Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001378454.1(ALMS1):c.8380C>T (p.Gln2794Ter)	SNV Germline	Chr2:73490339	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter	CA252950	rs_193919338	2 SubmittersRCV000004176
NM_001378454.1(ALMS1):c.10989G>A (p.Trp3663Ter)	SNV Germline	Chr2:73572866	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter	CA252955	rs_193919339	2 SubmittersRCV000004180
NM_001378454.1(ALMS1):c.8161C>T (p.Arg2721Ter)	SNV Germline	Chr2:73490120	Pathogenic	Condition: not provided Alstrom syndrome	Criteria Provided Multiple Submitters No Conflicts	CA252958	rs_193919340	5 SubmittersRCV003313026 RCV000004181
NM_001378454.1(ALMS1):c.1865A>G (p.Tyr622Cys)	SNV Germline	Chr2:73448392	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA325671	rs_193922693	3 SubmittersRCV000317177 RCV002408479
NM_001378454.1(ALMS1):c.10942G>T (p.Glu3648Ter)	SNV Germline	Chr2:73572819	Pathogenic	Alstrom syndrome	No Assertion Criteria Provided	CA261212	rs_397514576	1 SubmittersRCV000032964
NM_001378454.1(ALMS1):c.1897C>T (p.Gln633Ter)	SNV Germline	Chr2:73448424	Pathogenic	Condition: not provided Alstrom syndrome	Criteria Provided Single Submitter	CA220126	rs_398122995	2 SubmittersRCV000077846 RCV000210460
NM_001378454.1(ALMS1):c.9786G>A (p.Gln3262=)	SNV Germline	Chr2:73534828	Conflicting classifications of pathogenicity	Condition: not provided Alstrom syndrome	Criteria Provided Conflicting Classifications	CA236051	rs_757139660	2 SubmittersRCV000171295 RCV000675163
NM_001378454.1(ALMS1):c.11873-2A>T	SNV Germline	Chr2:73601193	Pathogenic	Condition: not provided Alstrom syndrome	Criteria Provided Multiple Submitters No Conflicts	CA236054	rs_786205527	3 SubmittersRCV000171296 RCV002516556
NM_001378454.1(ALMS1):c.11017C>A (p.Leu3673Ile)	SNV Germline	Chr2:73572894	Conflicting classifications of pathogenicity	Condition: not provided Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA240750	rs_549757247	6 SubmittersRCV000175083 RCV000634776 RCV002426835
NM_001378454.1(ALMS1):c.3092C>G (p.Thr1031Ser)	SNV Germline	Chr2:73449619	Conflicting classifications of pathogenicity	Condition: not provided Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA247726	rs_199922877	6 SubmittersRCV000418778 RCV000634783 RCV002321711
NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val)	SNV Germline	Chr2:73447980	Conflicting classifications of pathogenicity	not specified Monogenic diabetes Condition: not provided Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA247732	rs_73945001	15 SubmittersRCV000180331 RCV000445450 RCV000724486 RCV001080812 RCV002390443
NM_001378454.1(ALMS1):c.1838G>A (p.Gly613Asp)	SNV Germline	Chr2:73448365	Conflicting classifications of pathogenicity	Condition: not provided Monogenic diabetes not specified Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA247738	rs_148040591	10 SubmittersRCV000180334 RCV000445510 RCV000825702 RCV001086118 RCV002408782
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys)	SNV Germline	Chr2:73448563	Conflicting classifications of pathogenicity	not specified Alstrom syndrome Condition: not provided Monogenic diabetes Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA207921	rs_199573929	14 SubmittersRCV000194030 RCV000463604 RCV000726112 RCV001172511 RCV002415817
NM_001378454.1(ALMS1):c.6433C>T (p.Arg2145Ter)	SNV Germline	Chr2:73452960	Pathogenic	Alstrom syndrome Retinitis pigmentosa Retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA277244	rs_770558150	8 SubmittersRCV000194023 RCV001723763 RCV001073778 RCV003148669
NM_001378454.1(ALMS1):c.8453C>T (p.Thr2818Ile)	SNV Germline	Chr2:73490412	Conflicting classifications of pathogenicity	not specified Condition: not provided Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA208029	rs_373211307	7 SubmittersRCV000194094 RCV000726038 RCV001066778 RCV002408855
NM_001378454.1(ALMS1):c.10480C>T (p.Gln3494Ter)	SNV Germline	Chr2:73572357	Pathogenic	Alstrom syndrome Condition: not provided Cardiovascular phenotype Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA277038	rs_772624348	10 SubmittersRCV000192879 RCV001723762 RCV002399711 RCV004816321
NM_001378454.1(ALMS1):c.5142T>G (p.Tyr1714Ter)	SNV Germline	Chr2:73451669	Pathogenic	Alstrom syndrome Condition: not provided Retinal dystrophy, early-onset severe Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA276964	rs_772136379	10 SubmittersRCV000192391 RCV000494458 RCV001255897 RCV002336519
NM_001378454.1(ALMS1):c.671C>A (p.Pro224His)	SNV Germline	Chr2:73422881	Conflicting classifications of pathogenicity	Condition: not provided not specified Monogenic diabetes Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA349503	rs_11889925	14 SubmittersRCV000224355 RCV000424132 RCV000445509 RCV001082986 RCV002363032
NM_001378454.1(ALMS1):c.10303A>G (p.Lys3435Glu)	SNV Germline	Chr2:73559061	Conflicting classifications of pathogenicity	Monogenic diabetes not specified Condition: not provided Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA349410	rs_34071195	12 SubmittersRCV000445470 RCV000424086 RCV000710528 RCV001082556 RCV002381711
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser)	SNV Germline	Chr2:73572505	Conflicting classifications of pathogenicity	Condition: not provided not specified Monogenic diabetes Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA349169	rs_45501594	14 SubmittersRCV000224685 RCV000434829 RCV000445553 RCV001079318 RCV002408898
NM_001378454.1(ALMS1):c.2819T>A (p.Leu940Ter)	SNV Germline	Chr2:73449346	Pathogenic	Alstrom syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA352426	rs_539612316	8 SubmittersRCV000210366 RCV001818509 RCV002433919
NM_001378454.1(ALMS1):c.3781G>T (p.Glu1261Ter)	SNV Germline	Chr2:73450308	Pathogenic/Likely pathogenic	Alstrom syndrome	Criteria Provided Multiple Submitters No Conflicts	CA347276664	rs_1085307054	2 SubmittersRCV000490468
NM_001378454.1(ALMS1):c.6464A>G (p.Asp2155Gly)	SNV Germline	Chr2:73452991	Conflicting classifications of pathogenicity	Condition: not provided Monogenic diabetes Alstrom syndrome not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1714067	rs_58093963	11 SubmittersRCV000224895 RCV000445367 RCV001079332 RCV001729468 RCV002365167
NM_001378454.1(ALMS1):c.611A>C (p.Glu204Ala)	SNV Germline	Chr2:73419283	Conflicting classifications of pathogenicity	Alstrom syndrome Monogenic diabetes Condition: not provided Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA1712898	rs_200054604	8 SubmittersRCV000234342 RCV000445446 RCV001762541 RCV002356303 RCV001820750
NM_001378454.1(ALMS1):c.2065A>G (p.Thr689Ala)	SNV Germline	Chr2:73448592	Conflicting classifications of pathogenicity	Alstrom syndrome Condition: not provided Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA1713272	rs_201804994	8 SubmittersRCV000234517 RCV001723822 RCV002418023 RCV004782322
NM_001378454.1(ALMS1):c.3305A>C (p.Lys1102Thr)	SNV Germline	Chr2:73449832	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA1713500	rs_185586839	5 SubmittersRCV000231998 RCV002450702 RCV000734011
NM_001378454.1(ALMS1):c.4204A>G (p.Thr1402Ala)	SNV Germline	Chr2:73450731	Conflicting classifications of pathogenicity	Alstrom syndrome Condition: not provided Cardiovascular phenotype Retinal dystrophy	Criteria Provided Conflicting Classifications	CA1713659	rs_199649563	7 SubmittersRCV000229674 RCV000480638 RCV002327138 RCV004816445
NM_001378454.1(ALMS1):c.4329G>T (p.Leu1443Phe)	SNV Germline	Chr2:73450856	Conflicting classifications of pathogenicity	Alstrom syndrome not specified Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1713690	rs_192499639	10 SubmittersRCV000233652 RCV002265706 RCV001706267 RCV002327139
NM_001378454.1(ALMS1):c.4400G>T (p.Gly1467Val)	SNV Germline	Chr2:73450927	Conflicting classifications of pathogenicity	Condition: not provided Monogenic diabetes Alstrom syndrome Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA1713705	rs_78102263	8 SubmittersRCV000520376 RCV001172521 RCV001088077 RCV002327141 RCV001820749
NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile)	SNV Germline	Chr2:73451515	Conflicting classifications of pathogenicity	Alstrom syndrome not specified Monogenic diabetes Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1713808	rs_188807564	11 SubmittersRCV000227881 RCV000433447 RCV000445498 RCV001705277 RCV002338754
NM_001378454.1(ALMS1):c.5189A>G (p.Glu1730Gly)	SNV Germline	Chr2:73451716	Conflicting classifications of pathogenicity	Condition: not provided Alstrom syndrome not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1713836	rs_201390755	10 SubmittersRCV000731324 RCV001080878 RCV001701794 RCV002338755
NM_001378454.1(ALMS1):c.5433G>C (p.Lys1811Asn)	SNV Germline	Chr2:73451960	Conflicting classifications of pathogenicity	Alstrom syndrome not specified Monogenic diabetes Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1713883	rs_78039319	10 SubmittersRCV000233437 RCV000428195 RCV000445537 RCV001795371 RCV002347903
NM_001378454.1(ALMS1):c.5462C>T (p.Pro1821Leu)	SNV Germline	Chr2:73451989	Conflicting classifications of pathogenicity	Alstrom syndrome Condition: not provided Monogenic diabetes Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1713890	rs_200266868	7 SubmittersRCV000227137 RCV000731515 RCV001172523 RCV002347904
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=)	SNV Germline	Chr2:73490404	Conflicting classifications of pathogenicity	not specified Condition: not provided Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1714469	rs_137932254	13 SubmittersRCV000276445 RCV000710534 RCV001083501 RCV002444914
NM_001378454.1(ALMS1):c.11353A>G (p.Ile3785Val)	SNV Germline	Chr2:73573230	Conflicting classifications of pathogenicity	Alstrom syndrome Condition: not provided not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1715173	rs_201819880	10 SubmittersRCV000233166 RCV000437494 RCV000825109 RCV002444912
NM_001378454.1(ALMS1):c.11641C>T (p.His3881Tyr)	SNV Germline	Chr2:73599494	Conflicting classifications of pathogenicity	Alstrom syndrome Condition: not provided not specified Monogenic diabetes Cardiovascular phenotype Retinal dystrophy	Criteria Provided Conflicting Classifications	CA1715264	rs_142278066	14 SubmittersRCV000229716 RCV000413261 RCV000825113 RCV001172499 RCV002321884 RCV004816443
NM_001378454.1(ALMS1):c.3899C>A (p.Ser1300Ter)	SNV Germline	Chr2:73450426	Pathogenic	Alstrom syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA1713611	rs_769219669	2 SubmittersRCV001854999 RCV000760673
NM_001378454.1(ALMS1):c.8439A>G (p.Glu2813=)	SNV Germline	Chr2:73490398	Conflicting classifications of pathogenicity	not specified Alstrom syndrome	Criteria Provided Conflicting Classifications	CA10586839	rs_886038617	3 SubmittersRCV000251843 RCV000320205
NM_001378454.1(ALMS1):c.11204C>A (p.Ser3735Ter)	SNV Germline	Chr2:73573081	Pathogenic	Condition: not provided Alstrom syndrome Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10602888	rs_367877017	4 SubmittersRCV000277971 RCV000672084 RCV004816472
NM_001378454.1(ALMS1):c.1264G>A (p.Asp422Asn)	SNV Germline	Chr2:73426479	Conflicting classifications of pathogenicity	Alstrom syndrome ALMS1-related disorder	Criteria Provided Conflicting Classifications	CA10613939	rs_886056297	2 SubmittersRCV000266927 RCV003912419
NM_001378454.1(ALMS1):c.8479A>C (p.Arg2827=)	SNV Germline	Chr2:73490438	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10613951	rs_886056312	2 SubmittersRCV000356271 RCV003380552
NM_001378454.1(ALMS1):c.8816A>G (p.Asp2939Gly)	SNV Germline	Chr2:73490775	Conflicting classifications of pathogenicity	Alstrom syndrome ALMS1-related disorder	Criteria Provided Conflicting Classifications	CA10614378	rs_886056313	3 SubmittersRCV000275102 RCV003910303
NM_001378454.1(ALMS1):c.5931G>C (p.Lys1977Asn)	SNV Germline	Chr2:73452458	Conflicting classifications of pathogenicity	Alstrom syndrome ALMS1-related disorder	Criteria Provided Conflicting Classifications	CA10616149	rs_886056305	2 SubmittersRCV000343648 RCV003910301
NM_001378454.1(ALMS1):c.6139T>A (p.Ser2047Thr)	SNV Germline	Chr2:73452666	Conflicting classifications of pathogenicity	Alstrom syndrome ALMS1-related disorder	Criteria Provided Conflicting Classifications	CA10616150	rs_886056308	2 SubmittersRCV000358463 RCV003910302
NM_001378454.1(ALMS1):c.9886A>G (p.Thr3296Ala)	SNV Germline	Chr2:73534928	Conflicting classifications of pathogenicity	not specified Alstrom syndrome Monogenic diabetes Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1714800	rs_58806616	9 SubmittersRCV000413135 RCV000461539 RCV001172529 RCV001692093 RCV002379270
NM_001378454.1(ALMS1):c.7820C>G (p.Ala2607Gly)	SNV Germline	Chr2:73489779	Conflicting classifications of pathogenicity	not specified Alstrom syndrome Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA1714355	rs_140223281	5 SubmittersRCV000412739 RCV000860665 RCV002411280 RCV001729572
NM_001378454.1(ALMS1):c.10238A>G (p.Glu3413Gly)	SNV Germline	Chr2:73558996	Conflicting classifications of pathogenicity	not specified Alstrom syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1714949	rs_184779459	7 SubmittersRCV000413690 RCV000544449 RCV001569636 RCV002379273
NM_001378454.1(ALMS1):c.821G>A (p.Ser274Asn)	SNV Germline	Chr2:73424486	Conflicting classifications of pathogenicity	Condition: not provided Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1712994	rs_767513098	3 SubmittersRCV000427541 RCV001078806 RCV004022274
NM_001378454.1(ALMS1):c.759T>A (p.Pro253=)	SNV Germline	Chr2:73422969	Conflicting classifications of pathogenicity	not specified Alstrom syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1712945	rs_201478438	5 SubmittersRCV000445066 RCV001080958 RCV000767098 RCV002393053
NM_001378454.1(ALMS1):c.1237+2T>C	SNV Germline	Chr2:73424904	Likely pathogenic	Condition: not provided Alstrom syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16604259	rs_916056435	3 SubmittersRCV000444958 RCV000664556
NM_001378454.1(ALMS1):c.3290A>G (p.Tyr1097Cys)	SNV Germline	Chr2:73449817	Conflicting classifications of pathogenicity	Condition: not provided Alstrom syndrome not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1713496	rs_201816596	8 SubmittersRCV000418543 RCV000560896 RCV001821206 RCV002323649
NM_001378454.1(ALMS1):c.4134T>C (p.Ser1378=)	SNV Germline	Chr2:73450661	Conflicting classifications of pathogenicity	Condition: not provided Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1713642	rs_200491758	5 SubmittersRCV000727438 RCV001080209 RCV002329000
NM_001378454.1(ALMS1):c.11872+18G>A	SNV Germline	Chr2:73600899	Conflicting classifications of pathogenicity	not specified Condition: not provided Alstrom syndrome	Criteria Provided Conflicting Classifications	CA1715349	rs_139647347	7 SubmittersRCV000424257 RCV000514668 RCV001521079
NM_001378454.1(ALMS1):c.1634C>T (p.Thr545Ile)	SNV Germline	Chr2:73448161	Conflicting classifications of pathogenicity	Condition: not provided Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1713203	rs_772068213	5 SubmittersRCV000420579 RCV001828439 RCV004022464
NM_001378454.1(ALMS1):c.6302C>G (p.Ser2101Trp)	SNV Germline	Chr2:73452829	Conflicting classifications of pathogenicity	not specified Alstrom syndrome Monogenic diabetes Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA1714043	rs_28730854	5 SubmittersRCV000439863 RCV000865671 RCV001172506 RCV002365550 RCV001698278
NM_001378454.1(ALMS1):c.8890A>G (p.Ile2964Val)	SNV Germline	Chr2:73490849	Conflicting classifications of pathogenicity	Alstrom syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1714563	rs_529506570	4 SubmittersRCV001828458 RCV001704551 RCV002374730
NM_001378454.1(ALMS1):c.10892G>A (p.Arg3631His)	SNV Germline	Chr2:73572769	Conflicting classifications of pathogenicity	not specified Condition: not provided Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1715085	rs_142558799	10 SubmittersRCV000431898 RCV000766969 RCV001086177 RCV002418323
NM_001378454.1(ALMS1):c.1548C>G (p.Asp516Glu)	SNV Germline	Chr2:73448075	Conflicting classifications of pathogenicity	not specified Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1713191	rs_202002052	4 SubmittersRCV000443659 RCV000860715 RCV002402200
NM_001378454.1(ALMS1):c.11411G>C (p.Arg3804Thr)	SNV Germline	Chr2:73573288	Conflicting classifications of pathogenicity	Condition: not provided Alstrom syndrome Cardiovascular phenotype Retinal dystrophy	Criteria Provided Conflicting Classifications	CA1715186	rs_201028172	7 SubmittersRCV000434442 RCV000548287 RCV002451038 RCV004816663
NM_001378454.1(ALMS1):c.4344A>G (p.Leu1448=)	SNV Germline	Chr2:73450871	Conflicting classifications of pathogenicity	not specified Condition: not provided Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1713693	rs_200459890	6 SubmittersRCV000417591 RCV000734383 RCV001084110 RCV002328997
NM_001378454.1(ALMS1):c.5827C>T (p.Arg1943Cys)	SNV Germline	Chr2:73452354	Conflicting classifications of pathogenicity	Condition: not provided Alstrom syndrome not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1713946	rs_370398704	6 SubmittersRCV000430402 RCV000477620 RCV004689739 RCV002356626
NM_001378454.1(ALMS1):c.12004C>T (p.Arg4002Trp)	SNV Germline	Chr2:73601326	Conflicting classifications of pathogenicity	Condition: not provided Alstrom syndrome Cardiovascular phenotype not specified Retinal dystrophy	Criteria Provided Conflicting Classifications	CA1715400	rs_200897773	11 SubmittersRCV000436491 RCV000464330 RCV002348248 RCV004782381 RCV004816665
NM_001378454.1(ALMS1):c.12108C>G (p.Thr4036=)	SNV Germline	Chr2:73601430	Conflicting classifications of pathogenicity	Condition: not provided Alstrom syndrome	Criteria Provided Conflicting Classifications	CA1715426	rs_767174517	2 SubmittersRCV000424951 RCV001506189
NM_001378454.1(ALMS1):c.2536G>A (p.Gly846Arg)	SNV Germline	Chr2:73449063	Conflicting classifications of pathogenicity	Alstrom syndrome not specified Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1713374	rs_201154998	4 SubmittersRCV000468401 RCV000418320 RCV000767099 RCV002429455
NM_001378454.1(ALMS1):c.3103C>T (p.Pro1035Ser)	SNV Germline	Chr2:73449630	Conflicting classifications of pathogenicity	Condition: not provided Alstrom syndrome not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1713461	rs_531648685	6 SubmittersRCV000431219 RCV001242965 RCV001251290 RCV002323644
NM_001378454.1(ALMS1):c.4448T>C (p.Ile1483Thr)	SNV Germline	Chr2:73450975	Conflicting classifications of pathogenicity	Condition: not provided Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1713713	rs_370271775	5 SubmittersRCV000432091 RCV000665780 RCV002328999
NM_001378454.1(ALMS1):c.6082T>C (p.Ser2028Pro)	SNV Germline	Chr2:73452609	Conflicting classifications of pathogenicity	not specified Alstrom syndrome Monogenic diabetes Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1713998	rs_149096794	8 SubmittersRCV000436669 RCV000468666 RCV001172526 RCV001580495 RCV002356622
NM_001378454.1(ALMS1):c.6361G>C (p.Val2121Leu)	SNV Germline	Chr2:73452888	Conflicting classifications of pathogenicity	Condition: not provided Monogenic diabetes Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1714056	rs_200368564	6 SubmittersRCV000421757 RCV000445488 RCV001272958 RCV002365572
NM_001378454.1(ALMS1):c.6537C>T (p.Thr2179=)	SNV Germline	Chr2:73453064	Conflicting classifications of pathogenicity	not specified Condition: not provided Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1714080	rs_371511963	7 SubmittersRCV000431183 RCV000730690 RCV001084643 RCV002365556
NM_001378454.1(ALMS1):c.8411G>A (p.Arg2804His)	SNV Germline	Chr2:73490370	Conflicting classifications of pathogenicity	Alstrom syndrome Condition: not provided Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA1714465	rs_201252809	11 SubmittersRCV000468894 RCV000514773 RCV002446761 RCV003114574
NM_001378454.1(ALMS1):c.8883G>A (p.Pro2961=)	SNV Germline	Chr2:73490842	Conflicting classifications of pathogenicity	not specified Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1714562	rs_367862140	5 SubmittersRCV000441258 RCV000670946 RCV002446756
NM_001378454.1(ALMS1):c.11708G>A (p.Arg3903Gln)	SNV Germline	Chr2:73600717	Conflicting classifications of pathogenicity	not specified Alstrom syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1715302	rs_201673771	7 SubmittersRCV000434472 RCV000634782 RCV000766766 RCV002328975
NM_001378454.1(ALMS1):c.12438G>T (p.Arg4146=)	SNV Germline	Chr2:73608550	Conflicting classifications of pathogenicity	not specified Condition: not provided Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1715579	rs_35902379	6 SubmittersRCV000424426 RCV000732303 RCV001080112 RCV002379371
NM_001378454.1(ALMS1):c.2038C>G (p.Arg680Gly)	SNV Germline	Chr2:73448565	Conflicting classifications of pathogenicity	Monogenic diabetes not specified Condition: not provided Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1713262	rs_115444326	8 SubmittersRCV000445480 RCV000592736 RCV000727320 RCV001081278 RCV002418344
NM_001378454.1(ALMS1):c.4163C>T (p.Pro1388Leu)	SNV Germline	Chr2:73450690	Conflicting classifications of pathogenicity	Monogenic diabetes Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1713648	rs_377354387	5 SubmittersRCV000445475 RCV000537876 RCV004022532
NM_001378454.1(ALMS1):c.4405C>A (p.Pro1469Thr)	SNV Germline	Chr2:73450932	Conflicting classifications of pathogenicity	Monogenic diabetes Alstrom syndrome not specified Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1713706	rs_373638043	10 SubmittersRCV000445538 RCV000666784 RCV001201200 RCV001575003 RCV002329006
NM_001378454.1(ALMS1):c.5990A>G (p.Lys1997Arg)	SNV Germline	Chr2:73452517	Conflicting classifications of pathogenicity	Monogenic diabetes Alstrom syndrome Cardiovascular phenotype Retinal dystrophy	Criteria Provided Conflicting Classifications	CA1713977	rs_150331660	7 SubmittersRCV000445492 RCV000665779 RCV002356627 RCV004816667
NM_001378454.1(ALMS1):c.8257C>A (p.His2753Asn)	SNV Germline	Chr2:73490216	Conflicting classifications of pathogenicity	Monogenic diabetes Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1714432	rs_200718841	6 SubmittersRCV000445456 RCV000667911 RCV003168711
NM_001378454.1(ALMS1):c.9389C>G (p.Pro3130Arg)	SNV Germline	Chr2:73491348	Conflicting classifications of pathogenicity	Monogenic diabetes Condition: not provided not specified Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1714652	rs_200586877	9 SubmittersRCV000445473 RCV001552478 RCV001193867 RCV000577939 RCV002374731
NM_001378454.1(ALMS1):c.12295A>G (p.Arg4099Gly)	SNV Germline	Chr2:73602365	Conflicting classifications of pathogenicity	Monogenic diabetes Cardiovascular phenotype Alstrom syndrome	Criteria Provided Conflicting Classifications	CA16609247	rs_1057524885	3 SubmittersRCV000445485 RCV002365576 RCV002522730
NM_001378454.1(ALMS1):c.356A>G (p.Gln119Arg)	SNV Germline	Chr2:73408653	Conflicting classifications of pathogenicity	Alstrom syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1712819	rs_371516347	5 SubmittersRCV000469202 RCV001584125 RCV002451062
NM_001378454.1(ALMS1):c.7244C>A (p.Ser2415Ter)	SNV Germline	Chr2:73453771	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter	CA16611015	rs_1060500039	1 SubmittersRCV000472278
NM_001378454.1(ALMS1):c.10318A>G (p.Arg3440Gly)	SNV Germline	Chr2:73559076	Conflicting classifications of pathogenicity	Alstrom syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1714963	rs_746702722	5 SubmittersRCV000465433 RCV001539961 RCV002393076
NM_001378454.1(ALMS1):c.9006G>C (p.Lys3002Asn)	SNV Germline	Chr2:73490965	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1714582	rs_753980616	4 SubmittersRCV000466728 RCV004992221
NM_001378454.1(ALMS1):c.9712C>T (p.Arg3238Cys)	SNV Germline	Chr2:73519947	Conflicting classifications of pathogenicity	Condition: not provided Alstrom syndrome not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1714745	rs_201252375	7 SubmittersRCV000520369 RCV001082321 RCV001269158 RCV002374738
NM_001378454.1(ALMS1):c.4885C>T (p.Arg1629Trp)	SNV Germline	Chr2:73451412	Conflicting classifications of pathogenicity	Condition: not provided Alstrom syndrome not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1713784	rs_201874722	6 SubmittersRCV000493173 RCV001080781 RCV001821220 RCV002339109
NM_001378454.1(ALMS1):c.8920C>T (p.Pro2974Ser)	SNV Germline	Chr2:73490879	Conflicting classifications of pathogenicity	Alstrom syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA16611112	rs_1043429291	4 SubmittersRCV000461372 RCV000786095 RCV004629217
NM_001378454.1(ALMS1):c.1609C>G (p.Leu537Val)	SNV Germline	Chr2:73448136	Conflicting classifications of pathogenicity	Alstrom syndrome Condition: not provided Monogenic diabetes not specified Cardiovascular phenotype Retinal dystrophy	Criteria Provided Conflicting Classifications	CA1713199	rs_202111717	10 SubmittersRCV000476920 RCV000732324 RCV001172510 RCV001358710 RCV002393077 RCV004816673
NM_001378454.1(ALMS1):c.3689G>A (p.Gly1230Glu)	SNV Germline	Chr2:73450216	Conflicting classifications of pathogenicity	Alstrom syndrome Condition: not provided not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1713573	rs_372619046	6 SubmittersRCV000462849 RCV000523577 RCV001195325 RCV002348257
NM_001378454.1(ALMS1):c.5587C>T (p.Gln1863Ter)	SNV Germline	Chr2:73452114	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter	CA1713910	rs_769440001	1 SubmittersRCV000463457
NM_001378454.1(ALMS1):c.11407C>T (p.Pro3803Ser)	SNV Germline	Chr2:73573284	Conflicting classifications of pathogenicity	Alstrom syndrome Monogenic diabetes not specified Condition: not provided Cardiovascular phenotype ALMS1-related disorder	Criteria Provided Conflicting Classifications	CA1715185	rs_189032342	9 SubmittersRCV000471192 RCV001172498 RCV001260369 RCV001573772 RCV002451150 RCV004740247
NM_001378454.1(ALMS1):c.6442C>A (p.Pro2148Thr)	SNV Germline	Chr2:73452969	Conflicting classifications of pathogenicity	Condition: not provided Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1714063	rs_377360750	4 SubmittersRCV000480373 RCV000546991 RCV002367657
NM_001378454.1(ALMS1):c.9880G>C (p.Asp3294His)	SNV Germline	Chr2:73534922	Conflicting classifications of pathogenicity	Condition: not provided Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1714798	rs_200441305	4 SubmittersRCV000479594 RCV001085744 RCV002383930
NM_001378454.1(ALMS1):c.11584T>C (p.Ser3862Pro)	SNV Germline	Chr2:73599437	Conflicting classifications of pathogenicity	Condition: not provided Alstrom syndrome not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1715252	rs_202227966	6 SubmittersRCV000481715 RCV000704301 RCV000825863 RCV002356791
NM_001378454.1(ALMS1):c.11939C>T (p.Thr3980Ile)	SNV Germline	Chr2:73601261	Conflicting classifications of pathogenicity	Condition: not provided Alstrom syndrome not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1715388	rs_200568988	5 SubmittersRCV000485283 RCV001040891 RCV001264558 RCV002350076
NM_001378454.1(ALMS1):c.2184A>G (p.Gln728=)	SNV Germline	Chr2:73448711	Conflicting classifications of pathogenicity	Condition: not provided Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1713297	rs_572605877	5 SubmittersRCV000489973 RCV001834583 RCV002431427
NM_001378454.1(ALMS1):c.2535C>G (p.Asp845Glu)	SNV Germline	Chr2:73449062	Conflicting classifications of pathogenicity	Condition: not provided Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1713373	rs_77517267	4 SubmittersRCV000489305 RCV001084303 RCV002431429
NM_001378454.1(ALMS1):c.8281C>G (p.Pro2761Ala)	SNV Germline	Chr2:73490240	Conflicting classifications of pathogenicity	Condition: not provided Alstrom syndrome Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA1714439	rs_369650940	6 SubmittersRCV000489619 RCV000526705 RCV002431428 RCV003323567
NM_001378454.1(ALMS1):c.11765A>G (p.Asn3922Ser)	SNV Germline	Chr2:73600774	Conflicting classifications of pathogenicity	Condition: not provided Alstrom syndrome Monogenic diabetes Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA1715316	rs_199874928	7 SubmittersRCV000489710 RCV001088400 RCV001172500 RCV002329166 RCV002282171
NM_001378454.1(ALMS1):c.10354A>G (p.Asn3452Asp)	SNV Germline	Chr2:73559112	Conflicting classifications of pathogenicity	not specified Alstrom syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1714970	rs_573748379	6 SubmittersRCV000494528 RCV001271700 RCV000766679 RCV002395195
NM_001378454.1(ALMS1):c.346G>A (p.Val116Ile)	SNV Germline	Chr2:73408643	Conflicting classifications of pathogenicity	Condition: not provided Alstrom syndrome not specified Retinal dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA50351990	rs_752342634	7 SubmittersRCV000498257 RCV001319114 RCV003323572 RCV004816735 RCV004992284
NM_001378454.1(ALMS1):c.2893T>C (p.Tyr965His)	SNV Germline	Chr2:73449420	Conflicting classifications of pathogenicity	Condition: not provided Alstrom syndrome not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1713431	rs_201180147	6 SubmittersRCV000498266 RCV000798904 RCV000825867 RCV002438208
NM_001378454.1(ALMS1):c.5221G>C (p.Val1741Leu)	SNV Germline	Chr2:73451748	Conflicting classifications of pathogenicity	Condition: not provided Alstrom syndrome not specified Retinal dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA50396469	rs_962844498	7 SubmittersRCV000497636 RCV001351232 RCV003323573 RCV004816736 RCV004992285
NM_001378454.1(ALMS1):c.5827C>A (p.Arg1943Ser)	SNV Germline	Chr2:73452354	Conflicting classifications of pathogenicity	Condition: not provided Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA50397074	rs_370398704	5 SubmittersRCV000498239 RCV001370621 RCV004992286
NM_001378454.1(ALMS1):c.8904A>G (p.Gln2968=)	SNV Germline	Chr2:73490863	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Alstrom syndrome	Criteria Provided Conflicting Classifications	CA1714567	rs_777796888	4 SubmittersRCV000499936 RCV002376917 RCV001364424
NM_001378454.1(ALMS1):c.9460A>T (p.Thr3154Ser)	SNV Germline	Chr2:73491419	Conflicting classifications of pathogenicity	not specified Alstrom syndrome Cardiovascular phenotype Hearing impairment Condition: not provided	Criteria Provided Conflicting Classifications	CA1714662	rs_553507775	8 SubmittersRCV000499603 RCV001245670 RCV002376916 RCV001375363 RCV004691792
NM_001378454.1(ALMS1):c.10882C>T (p.Arg3628Ter)	SNV Germline	Chr2:73572759	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome Alstrom syndrome Retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA347286010	rs_1473611414	6 SubmittersRCV003222006 RCV000503366 RCV004817720 RCV001576245
NM_001378454.1(ALMS1):c.1451G>A (p.Gly484Asp)	SNV Germline	Chr2:73447978	Conflicting classifications of pathogenicity	not specified Alstrom syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1713175	rs_374663067	7 SubmittersRCV000523025 RCV000798208 RCV001707718 RCV002395252
NM_001378454.1(ALMS1):c.4024G>A (p.Val1342Ile)	SNV Germline	Chr2:73450551	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Alstrom syndrome	Criteria Provided Conflicting Classifications	CA1713624	rs_751346260	4 SubmittersRCV000522241 RCV002358409 RCV002481704
NM_001378454.1(ALMS1):c.5683T>A (p.Ser1895Thr)	SNV Germline	Chr2:73452210	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Alstrom syndrome	Criteria Provided Conflicting Classifications	CA347282958	rs_1288519568	4 SubmittersRCV000520759 RCV004023600 RCV001858012
NM_001378454.1(ALMS1):c.6827G>A (p.Arg2276Gln)	SNV Germline	Chr2:73453354	Conflicting classifications of pathogenicity	Alstrom syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1714130	rs_200979896	6 SubmittersRCV000545359 RCV000726963 RCV003159689
NM_001378454.1(ALMS1):c.10774A>G (p.Thr3592Ala)	SNV Germline	Chr2:73572651	Conflicting classifications of pathogenicity	Condition: not provided Alstrom syndrome not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1715057	rs_200467041	6 SubmittersRCV000524071 RCV000803220 RCV001255513 RCV002420308
NM_001378454.1(ALMS1):c.11255A>G (p.Asn3752Ser)	SNV Germline	Chr2:73573132	Conflicting classifications of pathogenicity	Condition: not provided not specified Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1715145	rs_199917289	7 SubmittersRCV000523193 RCV001328364 RCV001242906 RCV002438254
NM_001378454.1(ALMS1):c.12037G>A (p.Gly4013Ser)	SNV Germline	Chr2:73601359	Conflicting classifications of pathogenicity	Condition: not provided Alstrom syndrome Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA1715407	rs_541576664	7 SubmittersRCV000519349 RCV000765700 RCV003159669 RCV003387868
NM_001378454.1(ALMS1):c.2665A>G (p.Ile889Val)	SNV Germline	Chr2:73449192	Conflicting classifications of pathogenicity	Alstrom syndrome not specified Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1713394	rs_377282102	4 SubmittersRCV000559994 RCV000825112 RCV001566317 RCV002456083
NM_001378454.1(ALMS1):c.12164G>A (p.Arg4055Gln)	SNV Germline	Chr2:73602234	Conflicting classifications of pathogenicity	Alstrom syndrome Monogenic diabetes Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1715470	rs_752714698	7 SubmittersRCV000551773 RCV001172505 RCV001548165 RCV002358474
NM_001378454.1(ALMS1):c.4180C>T (p.Gln1394Ter)	SNV Germline	Chr2:73450707	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter	CA50393225	rs_969786171	1 SubmittersRCV000548073
NM_001378454.1(ALMS1):c.4222G>A (p.Val1408Ile)	SNV Germline	Chr2:73450749	Conflicting classifications of pathogenicity	Alstrom syndrome Monogenic diabetes Condition: not provided not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1713661	rs_200529564	7 SubmittersRCV000526065 RCV001172518 RCV001565361 RCV001375572 RCV002330845
NM_001378454.1(ALMS1):c.4316A>C (p.Tyr1439Ser)	SNV Germline	Chr2:73450843	Conflicting classifications of pathogenicity	Alstrom syndrome Monogenic diabetes Condition: not provided Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA1713687	rs_201971114	7 SubmittersRCV000540788 RCV001172520 RCV002284406 RCV002330846 RCV003330761
NM_001378454.1(ALMS1):c.8416T>G (p.Phe2806Val)	SNV Germline	Chr2:73490375	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype Retinal dystrophy	Criteria Provided Conflicting Classifications	CA1714466	rs_763332859	4 SubmittersRCV000541151 RCV002448655 RCV004817764
NM_001378454.1(ALMS1):c.1051C>T (p.Arg351Ter)	SNV Germline	Chr2:73424716	Pathogenic	Alstrom syndrome	Criteria Provided Multiple Submitters No Conflicts	CA347261385	rs_1275113273	4 SubmittersRCV000537166
NM_001378454.1(ALMS1):c.6637G>T (p.Asp2213Tyr)	SNV Germline	Chr2:73453164	Conflicting classifications of pathogenicity	Alstrom syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1714099	rs_367656336	6 SubmittersRCV000557119 RCV003222021 RCV002367800
NM_001378454.1(ALMS1):c.1816G>T (p.Gly606Ter)	SNV Germline	Chr2:73448343	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter	CA347265496	rs_1553403321	1 SubmittersRCV000528709
NM_001378454.1(ALMS1):c.3307C>G (p.Pro1103Ala)	SNV Germline	Chr2:73449834	Conflicting classifications of pathogenicity	Alstrom syndrome not specified Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1713501	rs_200257398	7 SubmittersRCV000534661 RCV001449720 RCV001549994 RCV002323937
NM_001378454.1(ALMS1):c.3727G>C (p.Glu1243Gln)	SNV Germline	Chr2:73450254	Conflicting classifications of pathogenicity	Alstrom syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1713581	rs_372620412	5 SubmittersRCV000549164 RCV002286752 RCV002350215
NM_001378454.1(ALMS1):c.4758A>G (p.Pro1586=)	SNV Germline	Chr2:73451285	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA1713759	rs_778600773	3 SubmittersRCV000551169 RCV002341288 RCV004817763
NM_001378454.1(ALMS1):c.6020A>G (p.Gln2007Arg)	SNV Germline	Chr2:73452547	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA50397314	rs_1047348249	3 SubmittersRCV000558186 RCV002358477
NM_001378454.1(ALMS1):c.5143A>T (p.Arg1715Ter)	SNV Germline	Chr2:73451670	Likely pathogenic	Alstrom syndrome	Criteria Provided Single Submitter	CA347280118	rs_773513360	1 SubmittersRCV000578023
NM_001378454.1(ALMS1):c.10822C>T (p.Arg3608Ter)	SNV Germline	Chr2:73572699	Pathogenic	Condition: not provided Alstrom syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA347285703	rs_1192396248	6 SubmittersRCV000578563 RCV000984142 RCV004629241
NM_001378454.1(ALMS1):c.11991G>A (p.Trp3997Ter)	SNV Germline	Chr2:73601313	Pathogenic/Likely pathogenic	Condition: not provided Alstrom syndrome	Criteria Provided Multiple Submitters No Conflicts	CA347266231	rs_1553421725	2 SubmittersRCV000578510 RCV001219856
NM_001378454.1(ALMS1):c.11328C>T (p.His3776=)	SNV Germline	Chr2:73573205	Conflicting classifications of pathogenicity	Condition: not provided Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1715169	rs_45596541	5 SubmittersRCV000726755 RCV001085927 RCV002448831
NM_001378454.1(ALMS1):c.3432C>T (p.Tyr1144=)	SNV Germline	Chr2:73449959	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Alstrom syndrome	Criteria Provided Conflicting Classifications	CA1713525	rs_768929630	3 SubmittersRCV000592676 RCV003160030 RCV003609158
NM_001378454.1(ALMS1):c.8359A>G (p.Ile2787Val)	SNV Germline	Chr2:73490318	Conflicting classifications of pathogenicity	Condition: not provided Alstrom syndrome not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1714456	rs_200075429	7 SubmittersRCV000595220 RCV000794425 RCV001175497 RCV002438538
NM_001378454.1(ALMS1):c.3375A>G (p.Val1125=)	SNV Germline	Chr2:73449902	Conflicting classifications of pathogenicity	Condition: not provided not specified Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1713514	rs_189914793	6 SubmittersRCV000727078 RCV000592923 RCV001088498 RCV002456303
NM_001378454.1(ALMS1):c.9589T>A (p.Ser3197Thr)	SNV Germline	Chr2:73519824	Conflicting classifications of pathogenicity	Condition: not provided Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1714705	rs_369682692	7 SubmittersRCV000595407 RCV000664857 RCV002377234
NM_001378454.1(ALMS1):c.813G>A (p.Ser271=)	SNV Germline	Chr2:73424478	Conflicting classifications of pathogenicity	Condition: not provided Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1712992	rs_775482774	4 SubmittersRCV000596701 RCV002476324 RCV002420577
NM_001378454.1(ALMS1):c.7441G>A (p.Ala2481Thr)	SNV Germline	Chr2:73453968	Conflicting classifications of pathogenicity	not specified Condition: not provided Alstrom syndrome Cardiovascular phenotype ALMS1-related disorder	Criteria Provided Conflicting Classifications	CA1714233	rs_760068474	5 SubmittersRCV000603830 RCV001539273 RCV001860344 RCV003380641 RCV004740370
NM_001378454.1(ALMS1):c.8837A>G (p.His2946Arg)	SNV Germline	Chr2:73490796	Conflicting classifications of pathogenicity	not specified Alstrom syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1714555	rs_574785830	5 SubmittersRCV000609389 RCV001050820 RCV001584424 RCV003160072
NM_001378454.1(ALMS1):c.7377C>T (p.Ser2459=)	SNV Germline	Chr2:73453904	Conflicting classifications of pathogenicity	not specified Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA427023734	rs_867561704	3 SubmittersRCV000612026 RCV002529520 RCV004992392
NM_001378454.1(ALMS1):c.10079-11C>T	SNV Germline	Chr2:73557209	Conflicting classifications of pathogenicity	Alstrom syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA1714873	rs_368250605	4 SubmittersRCV001523555 RCV001704708 RCV001821735
NM_001378454.1(ALMS1):c.9782-19C>A	SNV Germline	Chr2:73534805	Conflicting classifications of pathogenicity	not specified Alstrom syndrome	Criteria Provided Conflicting Classifications	CA1714781	rs_777706370	3 SubmittersRCV000612132 RCV002064006
NM_001378454.1(ALMS1):c.11748G>A (p.Glu3916=)	SNV Germline	Chr2:73600757	Conflicting classifications of pathogenicity	not specified Alstrom syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1715311	rs_373364340	5 SubmittersRCV000603620 RCV000861633 RCV001697874 RCV002331052
NM_001378454.1(ALMS1):c.861C>T (p.Asp287=)	SNV Germline	Chr2:73424526	Conflicting classifications of pathogenicity	Alstrom syndrome not specified Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1713001	rs_377281121	6 SubmittersRCV000634818 RCV000735884 RCV001571784 RCV002377375
NM_001378454.1(ALMS1):c.2152C>T (p.His718Tyr)	SNV Germline	Chr2:73448679	Conflicting classifications of pathogenicity	Alstrom syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1713290	rs_199572177	6 SubmittersRCV000634775 RCV002254938 RCV002431879
NM_001378454.1(ALMS1):c.4976C>A (p.Pro1659Gln)	SNV Germline	Chr2:73451503	Conflicting classifications of pathogenicity	Alstrom syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1713804	rs_199520788	3 SubmittersRCV000634801 RCV001574746 RCV002334076
NM_001378454.1(ALMS1):c.8005C>T (p.Arg2669Ter)	SNV Germline	Chr2:73489964	Pathogenic	Alstrom syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA347266861	rs_549857076	4 SubmittersRCV000634797 RCV000734688
NM_001378454.1(ALMS1):c.12363-6T>G	SNV Germline	Chr2:73608469	Conflicting classifications of pathogenicity	Alstrom syndrome	Criteria Provided Conflicting Classifications	CA658795821	rs_1553422641	2 SubmittersRCV000634789
NM_001378454.1(ALMS1):c.1174C>A (p.Arg392Ser)	SNV Germline	Chr2:73424839	Conflicting classifications of pathogenicity	Alstrom syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1713060	rs_3813227	3 SubmittersRCV000634790 RCV001584463 RCV002331134
NM_001378454.1(ALMS1):c.3412A>G (p.Thr1138Ala)	SNV Germline	Chr2:73449939	Conflicting classifications of pathogenicity	Alstrom syndrome Condition: not provided Cardiovascular phenotype Retinal dystrophy	Criteria Provided Conflicting Classifications	CA1713521	rs_201884768	7 SubmittersRCV000634786 RCV002264966 RCV002458020 RCV004817836
NM_001378454.1(ALMS1):c.3812C>A (p.Pro1271Gln)	SNV Germline	Chr2:73450339	Conflicting classifications of pathogenicity	Alstrom syndrome Monogenic diabetes Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1713596	rs_372563916	5 SubmittersRCV000634774 RCV001172517 RCV001557628 RCV002360539
NM_001378454.1(ALMS1):c.4390C>T (p.Gln1464Ter)	SNV Germline	Chr2:73450917	Pathogenic/Likely pathogenic	Alstrom syndrome	Criteria Provided Multiple Submitters No Conflicts	CA347278440	rs_904289501	2 SubmittersRCV000634809
NM_001378454.1(ALMS1):c.451-5T>G	SNV Germline	Chr2:73419118	Conflicting classifications of pathogenicity	Alstrom syndrome not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1712861	rs_774098604	5 SubmittersRCV000634822 RCV001193872 RCV002334077
NM_001378454.1(ALMS1):c.3464A>C (p.His1155Pro)	SNV Germline	Chr2:73449991	Conflicting classifications of pathogenicity	Alstrom syndrome Monogenic diabetes Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA1713530	rs_553406974	6 SubmittersRCV000634785 RCV001172516 RCV002460098 RCV004723005
NM_001378454.1(ALMS1):c.5197C>T (p.Gln1733Ter)	SNV Germline	Chr2:73451724	Pathogenic/Likely pathogenic	Alstrom syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA347280343	rs_750136202	2 SubmittersRCV000634810 RCV000760588
NM_001378454.1(ALMS1):c.6506C>T (p.Ser2169Leu)	SNV Germline	Chr2:73453033	Conflicting classifications of pathogenicity	Alstrom syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1714074	rs_368833782	5 SubmittersRCV000634793 RCV003156269 RCV004992426
NM_001378454.1(ALMS1):c.7983A>T (p.Glu2661Asp)	SNV Germline	Chr2:73489942	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA347266739	rs_1213279792	5 SubmittersRCV000634806 RCV002420703
NM_001378454.1(ALMS1):c.7674+1G>A	SNV Germline	Chr2:73455296	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_1417025395	1 SubmittersRCV000656410
NM_001378454.1(ALMS1):c.11784G>A (p.Trp3928Ter)	SNV Germline	Chr2:73600793	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_1318520999	1 SubmittersRCV000656411
NM_001378454.1(ALMS1):c.283C>T (p.Gln95Ter)	SNV Germline	Chr2:73386151	Pathogenic/Likely pathogenic	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_750326619	4 SubmittersRCV000672767 RCV003163069
NM_001378454.1(ALMS1):c.427C>T (p.Gln143Ter)	SNV Germline	Chr2:73408724	Conflicting classifications of pathogenicity	Alstrom syndrome ALMS1-related disorder Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_150825781	5 SubmittersRCV000665980 RCV003938018 RCV004629284
NM_001378454.1(ALMS1):c.601C>G (p.Gln201Glu)	SNV Germline	Chr2:73419273	Conflicting classifications of pathogenicity	Alstrom syndrome Condition: not provided Monogenic diabetes Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_376989302	9 SubmittersRCV000666004 RCV001572852 RCV001172507 RCV002352087
NM_001378454.1(ALMS1):c.709G>T (p.Glu237Ter)	SNV Germline	Chr2:73422919	Pathogenic/Likely pathogenic	Alstrom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_989080548	5 SubmittersRCV000671658
NM_001378454.1(ALMS1):c.780G>A (p.Lys260=)	SNV Germline	Chr2:73424445	Conflicting classifications of pathogenicity	Alstrom syndrome	Criteria Provided Conflicting Classifications		rs_1553400683	2 SubmittersRCV000665222
NM_001378454.1(ALMS1):c.10G>T (p.Glu4Ter)	SNV Unknown	Chr2:73385878	Likely pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_1553396092	1 SubmittersRCV000670265
NM_001378454.1(ALMS1):c.1339-12G>T	SNV Germline	Chr2:73432186	Conflicting classifications of pathogenicity	Alstrom syndrome	Criteria Provided Conflicting Classifications		rs_1260375872	2 SubmittersRCV000671542
NM_001378454.1(ALMS1):c.1339-8C>T	SNV Germline	Chr2:73432190	Conflicting classifications of pathogenicity	Alstrom syndrome	Criteria Provided Conflicting Classifications		rs_1553401596	2 SubmittersRCV000668725
NM_001378454.1(ALMS1):c.161T>A (p.Leu54Ter)	SNV Germline	Chr2:73386029	Pathogenic/Likely pathogenic	Alstrom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_755760721	2 SubmittersRCV000671016
NM_001378454.1(ALMS1):c.1432+4C>T	SNV Germline	Chr2:73432295	Conflicting classifications of pathogenicity	Alstrom syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_200933935	5 SubmittersRCV000666778 RCV001546882 RCV002388174
NM_001378454.1(ALMS1):c.325-6T>C	SNV Germline	Chr2:73408616	Conflicting classifications of pathogenicity	Alstrom syndrome	Criteria Provided Conflicting Classifications		rs_760582213	2 SubmittersRCV000668196
NM_001378454.1(ALMS1):c.325-1G>A	SNV Germline	Chr2:73408621	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_764337753	3 SubmittersRCV000674281 RCV002442400
NM_001378454.1(ALMS1):c.765-6T>A	SNV Germline	Chr2:73424424	Conflicting classifications of pathogenicity	Alstrom syndrome	Criteria Provided Conflicting Classifications		rs_755762723	2 SubmittersRCV000666259
NM_001378454.1(ALMS1):c.57G>A (p.Glu19=)	SNV Germline	Chr2:73385925	Conflicting classifications of pathogenicity	Alstrom syndrome	Criteria Provided Conflicting Classifications		rs_866503570	2 SubmittersRCV000665133
NM_001378454.1(ALMS1):c.3395A>G (p.Gln1132Arg)	SNV Germline	Chr2:73449922	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications		rs_202114540	5 SubmittersRCV000664599 RCV002458180 RCV003488786
NM_001378454.1(ALMS1):c.207C>T (p.Asp69=)	SNV Germline	Chr2:73386075	Conflicting classifications of pathogenicity	Alstrom syndrome not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_752874408	4 SubmittersRCV000667578 RCV000735877 RCV002422452
NM_001378454.1(ALMS1):c.4249C>T (p.Arg1417Trp)	SNV Germline	Chr2:73450776	Conflicting classifications of pathogenicity	Alstrom syndrome Condition: not provided Cardiovascular phenotype not specified Retinal dystrophy	Criteria Provided Conflicting Classifications		rs_199615803	10 SubmittersRCV000664923 RCV001558843 RCV002331299 RCV003323666 RCV004817864
NM_001378454.1(ALMS1):c.4267A>T (p.Thr1423Ser)	SNV Germline	Chr2:73450794	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications		rs_746145270	5 SubmittersRCV000665220 RCV004026082 RCV004768519
NM_001378454.1(ALMS1):c.296C>A (p.Ser99Ter)	SNV Unknown	Chr2:73386164	Likely pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_1553396296	1 SubmittersRCV000672713
NM_001378454.1(ALMS1):c.1432+1G>T	SNV Germline	Chr2:73432292	Likely pathogenic	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_1553401634	2 SubmittersRCV000672541 RCV002388181
NM_001378454.1(ALMS1):c.2103A>C (p.Pro701=)	SNV Germline	Chr2:73448630	Conflicting classifications of pathogenicity	Alstrom syndrome not specified Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_750362630	6 SubmittersRCV000665364 RCV001195320 RCV001731859 RCV002422449
NM_001378454.1(ALMS1):c.6433C>A (p.Arg2145=)	SNV Germline	Chr2:73452960	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_770558150	3 SubmittersRCV000665176 RCV002360691
NM_001378454.1(ALMS1):c.6496C>G (p.Leu2166Val)	SNV Germline	Chr2:73453023	Conflicting classifications of pathogenicity	Alstrom syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_1200119538	4 SubmittersRCV000671071 RCV003319394 RCV004993929
NM_001378454.1(ALMS1):c.6797T>A (p.Leu2266Ter)	SNV Germline	Chr2:73453324	Pathogenic/Likely pathogenic	Alstrom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_761071372	2 SubmittersRCV000670616
NM_001378454.1(ALMS1):c.2T>G (p.Met1Arg)	SNV Unknown	Chr2:73385870	Likely pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_1553396091	1 SubmittersRCV000666768
NM_001378454.1(ALMS1):c.2413A>G (p.Thr805Ala)	SNV Germline	Chr2:73448940	Conflicting classifications of pathogenicity	Alstrom syndrome not specified Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications		rs_772260271	6 SubmittersRCV000665170 RCV000735886 RCV002442390 RCV003317327
NM_001378454.1(ALMS1):c.1237+9C>G	SNV Germline	Chr2:73424911	Conflicting classifications of pathogenicity	Alstrom syndrome not specified	Criteria Provided Conflicting Classifications		rs_201471551	3 SubmittersRCV000669482 RCV001175435
NM_001378454.1(ALMS1):c.1238-20A>G	SNV Germline	Chr2:73426433	Conflicting classifications of pathogenicity	Alstrom syndrome	Criteria Provided Conflicting Classifications		rs_771811655	2 SubmittersRCV000664699
NM_001378454.1(ALMS1):c.2420C>G (p.Pro807Arg)	SNV Germline	Chr2:73448947	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_372717861	4 SubmittersRCV000666429 RCV002458181
NM_001378454.1(ALMS1):c.325-8A>C	SNV Germline	Chr2:73408614	Conflicting classifications of pathogenicity	Alstrom syndrome	Criteria Provided Conflicting Classifications		rs_200740825	2 SubmittersRCV000670279
NM_001378454.1(ALMS1):c.355C>T (p.Gln119Ter)	SNV Germline	Chr2:73408652	Pathogenic/Likely pathogenic	Alstrom syndrome Cardiovascular phenotype Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_751804613	6 SubmittersRCV000665317 RCV002460103 RCV003117464
NM_001378454.1(ALMS1):c.2128A>G (p.Thr710Ala)	SNV Germline	Chr2:73448655	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_367641723	5 SubmittersRCV000668922 RCV004026105
NM_001378454.1(ALMS1):c.2309C>T (p.Pro770Leu)	SNV Germline	Chr2:73448836	Conflicting classifications of pathogenicity	Alstrom syndrome Condition: not provided not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_187132771	6 SubmittersRCV000669480 RCV001564982 RCV001175437 RCV002442398
NM_001378454.1(ALMS1):c.647-4A>G	SNV Germline	Chr2:73422853	Conflicting classifications of pathogenicity	Alstrom syndrome	Criteria Provided Conflicting Classifications		rs_1553400427	2 SubmittersRCV000669516
NM_001378454.1(ALMS1):c.3278C>T (p.Pro1093Leu)	SNV Germline	Chr2:73449805	Conflicting classifications of pathogenicity	Alstrom syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_766187468	5 SubmittersRCV000664943 RCV002510950 RCV002442389
NM_001378454.1(ALMS1):c.717G>A (p.Ala239=)	SNV Germline	Chr2:73422927	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_373972884	4 SubmittersRCV000666125 RCV004629285
NM_001378454.1(ALMS1):c.765-12A>G	SNV Germline	Chr2:73424418	Conflicting classifications of pathogenicity	Alstrom syndrome	Criteria Provided Conflicting Classifications		rs_200209691	2 SubmittersRCV000670044
NM_001378454.1(ALMS1):c.7912T>A (p.Ser2638Thr)	SNV Germline	Chr2:73489871	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_548882067	3 SubmittersRCV000664836 RCV004629283
NM_001378454.1(ALMS1):c.8195T>C (p.Val2732Ala)	SNV Germline	Chr2:73490154	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_200859630	3 SubmittersRCV000666505 RCV004993924
NM_001378454.1(ALMS1):c.4483C>G (p.Leu1495Val)	SNV Germline	Chr2:73451010	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_373213201	4 SubmittersRCV000669193 RCV002331308
NM_001378454.1(ALMS1):c.1339-5A>G	SNV Germline	Chr2:73432193	Conflicting classifications of pathogenicity	Alstrom syndrome	Criteria Provided Conflicting Classifications		rs_373469023	2 SubmittersRCV000669277
NM_001378454.1(ALMS1):c.5758G>A (p.Val1920Ile)	SNV Germline	Chr2:73452285	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_373489525	2 SubmittersRCV000666114 RCV004026090
NM_001378454.1(ALMS1):c.5828G>T (p.Arg1943Leu)	SNV Germline	Chr2:73452355	Conflicting classifications of pathogenicity	Alstrom syndrome Condition: not provided Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications		rs_146669152	5 SubmittersRCV000668361 RCV001569834 RCV002352092 RCV001175496
NM_001378454.1(ALMS1):c.5417A>G (p.Tyr1806Cys)	SNV Germline	Chr2:73451944	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype ALMS1-related disorder	Criteria Provided Conflicting Classifications		rs_374046216	4 SubmittersRCV000665260 RCV002343414 RCV004740396
NM_001378454.1(ALMS1):c.9673C>T (p.Arg3225Cys)	SNV Germline	Chr2:73519908	Conflicting classifications of pathogenicity	Alstrom syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_200215551	4 SubmittersRCV000670054 RCV004820087 RCV002369805
NM_001378454.1(ALMS1):c.2521T>C (p.Ser841Pro)	SNV Germline	Chr2:73449048	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_949198387	4 SubmittersRCV000667978 RCV004026098
NM_001378454.1(ALMS1):c.9753A>G (p.Gln3251=)	SNV Germline	Chr2:73519988	Conflicting classifications of pathogenicity	Alstrom syndrome	Criteria Provided Conflicting Classifications		rs_1553412793	2 SubmittersRCV000664723
NM_001378454.1(ALMS1):c.5532C>T (p.Asn1844=)	SNV Germline	Chr2:73452059	Conflicting classifications of pathogenicity	Alstrom syndrome	Criteria Provided Conflicting Classifications		rs_369656698	2 SubmittersRCV000672358
NM_001378454.1(ALMS1):c.6926C>T (p.Thr2309Met)	SNV Germline	Chr2:73453453	Conflicting classifications of pathogenicity	Alstrom syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_147001219	6 SubmittersRCV000668078 RCV003424270 RCV002369801
NM_001378454.1(ALMS1):c.9782-13T>G	SNV Germline	Chr2:73534811	Conflicting classifications of pathogenicity	Alstrom syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_530508947	3 SubmittersRCV000673718 RCV004760693
NM_001378454.1(ALMS1):c.9782-6C>T	SNV Germline	Chr2:73534818	Conflicting classifications of pathogenicity	Alstrom syndrome	Criteria Provided Conflicting Classifications		rs_1414733616	2 SubmittersRCV000669400
NM_001378454.1(ALMS1):c.7541-6C>T	SNV Germline	Chr2:73455156	Conflicting classifications of pathogenicity	Alstrom syndrome not specified	Criteria Provided Conflicting Classifications		rs_1408073039	3 SubmittersRCV000672158 RCV001193271
NM_001378454.1(ALMS1):c.3268C>G (p.Pro1090Ala)	SNV Germline	Chr2:73449795	Conflicting classifications of pathogenicity	Alstrom syndrome not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_376232524	4 SubmittersRCV000670873 RCV001824862 RCV004026117
NM_001378454.1(ALMS1):c.4250G>A (p.Arg1417Gln)	SNV Germline	Chr2:73450777	Conflicting classifications of pathogenicity	Alstrom syndrome Monogenic diabetes	Criteria Provided Conflicting Classifications		rs_771362238	4 SubmittersRCV000665354 RCV001172519
NM_001378454.1(ALMS1):c.10079-19A>G	SNV Germline	Chr2:73557201	Conflicting classifications of pathogenicity	Alstrom syndrome	Criteria Provided Conflicting Classifications		rs_935864365	2 SubmittersRCV000671375
NM_001378454.1(ALMS1):c.10079-11C>A	SNV Germline	Chr2:73557209	Conflicting classifications of pathogenicity	Alstrom syndrome	Criteria Provided Conflicting Classifications		rs_368250605	2 SubmittersRCV000674179
NM_001378454.1(ALMS1):c.10079-4C>G	SNV Germline	Chr2:73557216	Conflicting classifications of pathogenicity	Alstrom syndrome	Criteria Provided Conflicting Classifications		rs_1446726516	2 SubmittersRCV000669041
NM_001378454.1(ALMS1):c.6076A>G (p.Lys2026Glu)	SNV Germline	Chr2:73452603	Conflicting classifications of pathogenicity	Alstrom syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_191286546	7 SubmittersRCV000666488 RCV004597854 RCV004026092
NM_001378454.1(ALMS1):c.10461C>T (p.Pro3487=)	SNV Germline	Chr2:73572338	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_202036843	3 SubmittersRCV000670439 RCV002397353
NM_001378454.1(ALMS1):c.9538C>G (p.Arg3180Gly)	SNV Germline	Chr2:73491497	Conflicting classifications of pathogenicity	Alstrom syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_563393715	6 SubmittersRCV000665028 RCV001706700 RCV002386141
NM_001378454.1(ALMS1):c.9908-15C>G	SNV Germline	Chr2:73550252	Conflicting classifications of pathogenicity	Alstrom syndrome	Criteria Provided Conflicting Classifications		rs_1389556610	2 SubmittersRCV000669998
NM_001378454.1(ALMS1):c.11548-3T>C	SNV Germline	Chr2:73599398	Conflicting classifications of pathogenicity	Alstrom syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_555547573	5 SubmittersRCV000665410 RCV000827508 RCV002360692
NM_001378454.1(ALMS1):c.10079-10G>A	SNV Germline	Chr2:73557210	Conflicting classifications of pathogenicity	Alstrom syndrome	Criteria Provided Conflicting Classifications		rs_778996015	2 SubmittersRCV000669814
NM_001378454.1(ALMS1):c.10079-1G>C	SNV Germline	Chr2:73557219	Likely pathogenic	Alstrom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1361885101	3 SubmittersRCV000673290
NM_001378454.1(ALMS1):c.7541-4C>G	SNV Germline	Chr2:73455158	Conflicting classifications of pathogenicity	Alstrom syndrome	Criteria Provided Conflicting Classifications		rs_1380143996	2 SubmittersRCV000674294
NM_001378454.1(ALMS1):c.11669-1G>A	SNV Germline	Chr2:73600677	Pathogenic/Likely pathogenic	Alstrom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_750737346	3 SubmittersRCV000668098
NM_001378454.1(ALMS1):c.7675-2A>G	SNV Germline	Chr2:73489632	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_748477695	2 SubmittersRCV000673225 RCV004026128
NM_001378454.1(ALMS1):c.10368A>G (p.Leu3456=)	SNV Germline	Chr2:73559126	Conflicting classifications of pathogenicity	Alstrom syndrome	Criteria Provided Conflicting Classifications		rs_929142880	2 SubmittersRCV000665048
NM_001378454.1(ALMS1):c.9539G>A (p.Arg3180Gln)	SNV Germline	Chr2:73491498	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications		rs_772197358	3 SubmittersRCV000669301 RCV004993926 RCV004800523
NM_001378454.1(ALMS1):c.10384+1G>A	SNV Germline	Chr2:73559143	Likely pathogenic	Alstrom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_766366221	3 SubmittersRCV000673328
NM_001378454.1(ALMS1):c.9539+1G>T	SNV Unknown	Chr2:73491499	Likely pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_1553409901	1 SubmittersRCV000668030
NM_001378454.1(ALMS1):c.11872+2T>A	SNV Germline	Chr2:73600883	Likely pathogenic	Alstrom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1553421657	2 SubmittersRCV000670386
NM_001378454.1(ALMS1):c.9669A>C (p.Glu3223Asp)	SNV Germline	Chr2:73519904	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_376206840	3 SubmittersRCV000670437 RCV002369806
NM_001378454.1(ALMS1):c.11873-11G>A	SNV Germline	Chr2:73601184	Conflicting classifications of pathogenicity	Alstrom syndrome	Criteria Provided Conflicting Classifications		rs_571456553	2 SubmittersRCV000665164
NM_001378454.1(ALMS1):c.10546C>T (p.Gln3516Ter)	SNV Germline	Chr2:73572423	Pathogenic/Likely pathogenic	Alstrom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_375019820	3 SubmittersRCV000666520
NM_001378454.1(ALMS1):c.10213+1G>A	SNV Germline	Chr2:73557355	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_374681570	4 SubmittersRCV000674944 RCV003380671
NM_001378454.1(ALMS1):c.12150C>A (p.Ser4050=)	SNV Germline	Chr2:73602220	Conflicting classifications of pathogenicity	Alstrom syndrome	Criteria Provided Conflicting Classifications		rs_1553421877	2 SubmittersRCV000664506
NM_001378454.1(ALMS1):c.10214-5C>T	SNV Germline	Chr2:73558967	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_751591632	3 SubmittersRCV000668904 RCV004026104
NM_001378454.1(ALMS1):c.9321A>G (p.Val3107=)	SNV Germline	Chr2:73491280	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications		rs_371108940	4 SubmittersRCV000664712 RCV002369790 RCV003128684
NM_001378454.1(ALMS1):c.10224T>C (p.Ala3408=)	SNV Germline	Chr2:73558982	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_1464934308	4 SubmittersRCV000665145 RCV002406504
NM_001378454.1(ALMS1):c.12463-10T>C	SNV Germline	Chr2:73609558	Conflicting classifications of pathogenicity	Alstrom syndrome	Criteria Provided Conflicting Classifications		rs_754172101	2 SubmittersRCV000669586
NM_001378454.1(ALMS1):c.10651A>G (p.Asn3551Asp)	SNV Germline	Chr2:73572528	Conflicting classifications of pathogenicity	Alstrom syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_200992340	5 SubmittersRCV000669927 RCV001662737 RCV002406513
NM_001378454.1(ALMS1):c.10385-9C>T	SNV Germline	Chr2:73572253	Conflicting classifications of pathogenicity	Alstrom syndrome	Criteria Provided Conflicting Classifications		rs_568809052	2 SubmittersRCV000673802
NM_001378454.1(ALMS1):c.10385-7T>G	SNV Germline	Chr2:73572255	Conflicting classifications of pathogenicity	Alstrom syndrome	Criteria Provided Conflicting Classifications		rs_1298945759	2 SubmittersRCV000668421
NM_001378454.1(ALMS1):c.9782-8C>T	SNV Germline	Chr2:73534816	Conflicting classifications of pathogenicity	Alstrom syndrome	Criteria Provided Conflicting Classifications		rs_1553414061	2 SubmittersRCV000671842
NM_001378454.1(ALMS1):c.9908-13C>G	SNV Germline	Chr2:73550254	Conflicting classifications of pathogenicity	Alstrom syndrome	Criteria Provided Conflicting Classifications		rs_373325114	2 SubmittersRCV000667157
NM_001378454.1(ALMS1):c.9908-13C>T	SNV Germline	Chr2:73550254	Conflicting classifications of pathogenicity	Alstrom syndrome not specified	Criteria Provided Conflicting Classifications		rs_373325114	3 SubmittersRCV000665478 RCV001553714
NM_001378454.1(ALMS1):c.10467C>T (p.His3489=)	SNV Germline	Chr2:73572344	Conflicting classifications of pathogenicity	Alstrom syndrome	Criteria Provided Conflicting Classifications		rs_371631738	2 SubmittersRCV000665001
NM_001378454.1(ALMS1):c.11511A>G (p.Leu3837=)	SNV Germline	Chr2:73573388	Conflicting classifications of pathogenicity	Alstrom syndrome	Criteria Provided Conflicting Classifications		rs_374164508	2 SubmittersRCV000674117
NM_001378454.1(ALMS1):c.11547+1G>A	SNV Unknown	Chr2:73573425	Likely pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_1553418638	1 SubmittersRCV000672617
NM_001378454.1(ALMS1):c.11626A>G (p.Asn3876Asp)	SNV Germline	Chr2:73599479	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications		rs_377130177	6 SubmittersRCV000665728 RCV002352085 RCV003148821
NM_001378454.1(ALMS1):c.11668+17A>G	SNV Germline	Chr2:73599538	Conflicting classifications of pathogenicity	Alstrom syndrome	Criteria Provided Conflicting Classifications		rs_201109126	2 SubmittersRCV000665685
NM_001378454.1(ALMS1):c.10731T>C (p.Ile3577=)	SNV Germline	Chr2:73572608	Conflicting classifications of pathogenicity	Alstrom syndrome	Criteria Provided Conflicting Classifications		rs_1553418487	2 SubmittersRCV000664722
NM_001378454.1(ALMS1):c.11669-14A>G	SNV Germline	Chr2:73600664	Conflicting classifications of pathogenicity	Alstrom syndrome	Criteria Provided Conflicting Classifications		rs_768036112	2 SubmittersRCV000665510
NM_001378454.1(ALMS1):c.11669-12C>T	SNV Germline	Chr2:73600666	Conflicting classifications of pathogenicity	Alstrom syndrome	Criteria Provided Conflicting Classifications		rs_774970704	2 SubmittersRCV000666907
NM_001378454.1(ALMS1):c.12114+1G>T	SNV Unknown	Chr2:73601437	Likely pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_376719320	1 SubmittersRCV000671240
NM_001378454.1(ALMS1):c.12198G>A (p.Arg4066=)	SNV Germline	Chr2:73602268	Conflicting classifications of pathogenicity	Alstrom syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_199603690	7 SubmittersRCV000664649 RCV001576145 RCV002360690
NM_001378454.1(ALMS1):c.12284C>T (p.Pro4095Leu)	SNV Germline	Chr2:73602354	Conflicting classifications of pathogenicity	Alstrom syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_750502331	5 SubmittersRCV000668351 RCV001584539 RCV002360697
NM_001378454.1(ALMS1):c.12299-6G>A	SNV Germline	Chr2:73603235	Conflicting classifications of pathogenicity	Alstrom syndrome	Criteria Provided Conflicting Classifications		rs_771317399	2 SubmittersRCV000673246
NM_001378454.1(ALMS1):c.12299-15T>C	SNV Germline	Chr2:73603226	Conflicting classifications of pathogenicity	Alstrom syndrome	Criteria Provided Conflicting Classifications		rs_1553422033	2 SubmittersRCV000669229
NM_001378454.1(ALMS1):c.12299-14C>T	SNV Germline	Chr2:73603227	Conflicting classifications of pathogenicity	Alstrom syndrome	Criteria Provided Conflicting Classifications		rs_1352077204	2 SubmittersRCV000671774
NM_001378454.1(ALMS1):c.11873-11G>T	SNV Germline	Chr2:73601184	Conflicting classifications of pathogenicity	Alstrom syndrome not specified	Criteria Provided Conflicting Classifications		rs_571456553	3 SubmittersRCV000666973 RCV002282301
NM_001378454.1(ALMS1):c.12330C>G (p.Ile4110Met)	SNV Germline	Chr2:73603272	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_375524122	4 SubmittersRCV000669766 RCV002360699
NM_001378454.1(ALMS1):c.12299-1G>A	SNV Germline	Chr2:73603240	Likely pathogenic	Alstrom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1313101326	3 SubmittersRCV000667123
NM_001378454.1(ALMS1):c.11873-4G>A	SNV Germline	Chr2:73601191	Conflicting classifications of pathogenicity	Alstrom syndrome	Criteria Provided Conflicting Classifications		rs_1553421697	2 SubmittersRCV000674182
NM_001378454.1(ALMS1):c.12363-12G>A	SNV Germline	Chr2:73608463	Conflicting classifications of pathogenicity	Alstrom syndrome	Criteria Provided Conflicting Classifications		rs_749504196	3 SubmittersRCV000670795
NM_001378454.1(ALMS1):c.11897A>T (p.Glu3966Val)	SNV Germline	Chr2:73601219	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_377523400	4 SubmittersRCV000665249 RCV002334232
NM_001378454.1(ALMS1):c.12442C>T (p.Arg4148Ter)	SNV Germline	Chr2:73608554	Conflicting classifications of pathogenicity	Alstrom syndrome Condition: not provided Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications		rs_192496253	8 SubmittersRCV000668094 RCV001584538 RCV002388179 RCV004768529
NM_001378454.1(ALMS1):c.12463-9C>G	SNV Germline	Chr2:73609559	Conflicting classifications of pathogenicity	Alstrom syndrome	Criteria Provided Conflicting Classifications		rs_1553422761	2 SubmittersRCV000671015
NM_001378454.1(ALMS1):c.12463-14C>G	SNV Germline	Chr2:73609554	Conflicting classifications of pathogenicity	Alstrom syndrome not specified	Criteria Provided Conflicting Classifications		rs_766656843	3 SubmittersRCV000665787 RCV001797775
NM_001378454.1(ALMS1):c.568C>A (p.Leu190Met)	SNV Germline	Chr2:73419240	Conflicting classifications of pathogenicity	Alstrom syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_375838474	4 SubmittersRCV000691102 RCV001861907 RCV002343459
NM_001378454.1(ALMS1):c.9145A>G (p.Ile3049Val)	SNV Germline	Chr2:73491104	Conflicting classifications of pathogenicity	Alstrom syndrome not specified Condition: not provided Cardiovascular phenotype Retinal dystrophy	Criteria Provided Conflicting Classifications		rs_202228570	12 SubmittersRCV000705169 RCV001195365 RCV001552380 RCV002369958 RCV004817945
NM_001378454.1(ALMS1):c.9325C>G (p.Gln3109Glu)	SNV Germline	Chr2:73491284	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_1558667813	3 SubmittersRCV000688214 RCV004993948
NM_001378454.1(ALMS1):c.9538C>T (p.Arg3180Ter)	SNV Germline	Chr2:73491497	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_563393715	2 SubmittersRCV000707419
NM_001378454.1(ALMS1):c.11953A>G (p.Ile3985Val)	SNV Germline	Chr2:73601275	Conflicting classifications of pathogenicity	Alstrom syndrome not specified Condition: not provided Cardiovascular phenotype Retinal dystrophy	Criteria Provided Conflicting Classifications		rs_201728850	11 SubmittersRCV000705168 RCV001195324 RCV001560085 RCV002334381 RCV004817944
NM_001378454.1(ALMS1):c.3002G>T (p.Gly1001Val)	SNV Germline	Chr2:73449529	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype Monogenic diabetes	Criteria Provided Conflicting Classifications		rs_773630367	5 SubmittersRCV000691798 RCV004993956 RCV001172513
NM_001378454.1(ALMS1):c.30C>T (p.Gly10=)	SNV Germline	Chr2:73385898	Conflicting classifications of pathogenicity	Alstrom syndrome	Criteria Provided Conflicting Classifications		rs_1402244580	3 SubmittersRCV000690375
NM_001378454.1(ALMS1):c.1886G>A (p.Gly629Asp)	SNV Germline	Chr2:73448413	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications		rs_531859344	6 SubmittersRCV000697141 RCV002406602 RCV003442039
NM_001378454.1(ALMS1):c.4795A>G (p.Ile1599Val)	SNV Germline	Chr2:73451322	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications		rs_377671796	5 SubmittersRCV000685205 RCV002334248 RCV002466561
NM_001378454.1(ALMS1):c.280C>T (p.Pro94Ser)	SNV Germline	Chr2:73386148	Conflicting classifications of pathogenicity	Condition: not provided Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_775431837	6 SubmittersRCV000730500 RCV001509577 RCV002440570
NM_001378454.1(ALMS1):c.4843T>G (p.Leu1615Val)	SNV Germline	Chr2:73451370	Conflicting classifications of pathogenicity	Condition: not provided Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_375736124	3 SubmittersRCV000732117 RCV002536475 RCV004027027
NM_001378454.1(ALMS1):c.11463G>A (p.Glu3821=)	SNV Germline	Chr2:73573340	Conflicting classifications of pathogenicity	not specified Alstrom syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_750087396	6 SubmittersRCV000825705 RCV001085207 RCV000732160 RCV002334413
NM_001378454.1(ALMS1):c.6211A>G (p.Ile2071Val)	SNV Germline	Chr2:73452738	Conflicting classifications of pathogenicity	Condition: not provided Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_1020163869	3 SubmittersRCV000734522 RCV002535381 RCV004027086
NM_001378454.1(ALMS1):c.2136C>T (p.Leu712=)	SNV Germline	Chr2:73448663	Conflicting classifications of pathogenicity	not specified Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_747504060	3 SubmittersRCV000735885 RCV001454996 RCV002424750
NM_001378454.1(ALMS1):c.5918C>A (p.Pro1973Gln)	SNV Germline	Chr2:73452445	Conflicting classifications of pathogenicity	not specified Monogenic diabetes Condition: not provided Cardiovascular phenotype Alstrom syndrome	Criteria Provided Conflicting Classifications		rs_199615641	7 SubmittersRCV000735881 RCV001172524 RCV001796202 RCV002352257 RCV002535438
NM_001378454.1(ALMS1):c.9075A>G (p.Pro3025=)	SNV Germline	Chr2:73491034	Conflicting classifications of pathogenicity	not specified Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_1278648561	3 SubmittersRCV000735890 RCV002061025 RCV002442562
NM_001378454.1(ALMS1):c.12076A>G (p.Arg4026Gly)	SNV Germline	Chr2:73601398	Conflicting classifications of pathogenicity	not specified Monogenic diabetes Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_754439156	6 SubmittersRCV000735892 RCV001172502 RCV001830648 RCV002343607
NM_001378454.1(ALMS1):c.12285G>T (p.Pro4095=)	SNV Germline	Chr2:73602355	Conflicting classifications of pathogenicity	Alstrom syndrome not specified	Criteria Provided Conflicting Classifications		rs_776912137	2 SubmittersRCV001395431 RCV000735893
NM_001378454.1(ALMS1):c.11446C>T (p.Gln3816Ter)	SNV Germline	Chr2:73573323	Pathogenic	Condition: not provided Alstrom syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_940576720	4 SubmittersRCV000760859 RCV001061071 RCV002458368
NM_001378454.1(ALMS1):c.4743C>G (p.Tyr1581Ter)	SNV Germline	Chr2:73451270	Pathogenic/Likely pathogenic	Alstrom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1572935708	2 SubmittersRCV000791278
NM_001378454.1(ALMS1):c.298G>T (p.Glu100Ter)	SNV Germline	Chr2:73386166	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_1254495717	1 SubmittersRCV000818487
NM_001378454.1(ALMS1):c.3867T>G (p.Tyr1289Ter)	SNV Germline	Chr2:73450394	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_369314182	1 SubmittersRCV000802935
NM_001378454.1(ALMS1):c.4543G>A (p.Ala1515Thr)	SNV Germline	Chr2:73451070	Conflicting classifications of pathogenicity	Alstrom syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_183839621	3 SubmittersRCV000797512 RCV001547204 RCV002334493
NM_001378454.1(ALMS1):c.5444C>T (p.Ser1815Phe)	SNV Germline	Chr2:73451971	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_528863432	4 SubmittersRCV000802946 RCV002345794
NM_001378454.1(ALMS1):c.5903C>G (p.Ser1968Ter)	SNV Germline	Chr2:73452430	Pathogenic	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_1490127694	4 SubmittersRCV000820227 RCV004629350
NM_001378454.1(ALMS1):c.6183G>C (p.Gln2061His)	SNV Germline	Chr2:73452710	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_200041852	3 SubmittersRCV000810558 RCV002352407
NM_001378454.1(ALMS1):c.8763C>A (p.Cys2921Ter)	SNV Germline	Chr2:73490722	Pathogenic/Likely pathogenic	Alstrom syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_765908556	2 SubmittersRCV000816606 RCV003223681
NM_001378454.1(ALMS1):c.646+2T>C	SNV Germline	Chr2:73419320	Likely pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_1572911143	1 SubmittersRCV000817160
NM_001378454.1(ALMS1):c.4394C>T (p.Thr1465Met)	SNV Germline	Chr2:73450921	Conflicting classifications of pathogenicity	not specified Condition: not provided Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_200980776	4 SubmittersRCV000825866 RCV001785732 RCV001869271 RCV002332727
NM_001378454.1(ALMS1):c.8898T>A (p.Leu2966=)	SNV Germline	Chr2:73490857	Conflicting classifications of pathogenicity	not specified Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_1572970207	3 SubmittersRCV000825278 RCV003502552 RCV004994059
NM_001378454.1(ALMS1):c.11070C>T (p.Gly3690=)	SNV Germline	Chr2:73572947	Conflicting classifications of pathogenicity	Alstrom syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_371329585	6 SubmittersRCV000862761 RCV001731954 RCV002434068
NM_001378454.1(ALMS1):c.2122A>G (p.Thr708Ala)	SNV Germline	Chr2:73448649	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype ALMS1-related disorder	Criteria Provided Conflicting Classifications		rs_571389435	4 SubmittersRCV000868492 RCV002416028 RCV003411851
NM_001378454.1(ALMS1):c.5447A>G (p.Tyr1816Cys)	SNV Germline	Chr2:73451974	Conflicting classifications of pathogenicity	Alstrom syndrome not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_780110659	3 SubmittersRCV001406809 RCV001824898 RCV004027656
NM_001378454.1(ALMS1):c.8918C>T (p.Ala2973Val)	SNV Germline	Chr2:73490877	Conflicting classifications of pathogenicity	Alstrom syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_202110907	4 SubmittersRCV000866724 RCV001549857 RCV002372430
NM_001378454.1(ALMS1):c.11867A>G (p.His3956Arg)	SNV Germline	Chr2:73600876	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications		rs_553786370	4 SubmittersRCV000867592 RCV003380761 RCV004822252
NM_001378454.1(ALMS1):c.10020G>A (p.Arg3340=)	SNV Germline	Chr2:73550379	Conflicting classifications of pathogenicity	Condition: not provided Alstrom syndrome Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications		rs_746166271	5 SubmittersRCV000930443 RCV001424349 RCV002382106 RCV001818899
NM_001378454.1(ALMS1):c.1727C>G (p.Ser576Ter)	SNV Germline	Chr2:73448254	Pathogenic	Alstrom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_756389027	2 SubmittersRCV000986772
NM_001378454.1(ALMS1):c.2326C>T (p.Gln776Ter)	SNV Germline	Chr2:73448853	Pathogenic/Likely pathogenic	Alstrom syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_758195453	6 SubmittersRCV000986773 RCV002509585 RCV002445145
NM_001378454.1(ALMS1):c.9191T>G (p.Leu3064Ter)	SNV Unknown	Chr2:73491150	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_1434010689	1 SubmittersRCV000986775
NM_001378454.1(ALMS1):c.1208C>G (p.Ser403Ter)	SNV Germline	Chr2:73424873	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_1248541208	1 SubmittersRCV001095370
NM_001378454.1(ALMS1):c.1625T>A (p.Leu542Ter)	SNV Germline	Chr2:73448152	Pathogenic/Likely pathogenic	Condition: not provided Alstrom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1347176614	4 SubmittersRCV000997165 RCV001858855
NM_001378454.1(ALMS1):c.5297A>G (p.Asn1766Ser)	SNV Germline	Chr2:73451824	Conflicting classifications of pathogenicity	Condition: not provided Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_192863498	5 SubmittersRCV000997166 RCV001247402 RCV002346204
NM_001378454.1(ALMS1):c.805C>T (p.Arg269Ter)	SNV Germline	Chr2:73424470	Pathogenic	Alstrom syndrome Cone-rod dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1426009756	5 SubmittersRCV001389287 RCV002267747 RCV004721697
NM_001378454.1(ALMS1):c.5240A>T (p.Gln1747Leu)	SNV Germline	Chr2:73451767	Likely pathogenic	Alstrom syndrome	No Assertion Criteria Provided		rs_1572936360	1 SubmittersRCV001002868
NM_001378454.1(ALMS1):c.7132C>T (p.Leu2378Phe)	SNV Germline	Chr2:73453659	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_768751472	1 SubmittersRCV001199642
NM_001378454.1(ALMS1):c.7786C>T (p.Gln2596Ter)	SNV Germline	Chr2:73489745	Pathogenic	Alstrom syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1672934629	3 SubmittersRCV001199643 RCV001543586
NM_001378454.1(ALMS1):c.2617C>T (p.Gln873Ter)	SNV Germline	Chr2:73449144	Pathogenic	Condition: not provided Alstrom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1572932845	2 SubmittersRCV001008004 RCV001860585
NM_001378454.1(ALMS1):c.547G>T (p.Glu183Ter)	SNV Germline	Chr2:73419219	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_1671239143	1 SubmittersRCV001039891
NM_001378454.1(ALMS1):c.589C>T (p.Gln197Ter)	SNV Germline	Chr2:73419261	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_1671240457	1 SubmittersRCV001059830
NM_001378454.1(ALMS1):c.1834A>C (p.Thr612Pro)	SNV Germline	Chr2:73448361	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_775286973	3 SubmittersRCV001060336 RCV002409479
NM_001378454.1(ALMS1):c.2087C>A (p.Ser696Ter)	SNV Germline	Chr2:73448614	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_1490504758	2 SubmittersRCV001070227
NM_001378454.1(ALMS1):c.3011C>G (p.Ser1004Ter)	SNV Germline	Chr2:73449538	Pathogenic	Alstrom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1359874667	2 SubmittersRCV001067735
NM_001378454.1(ALMS1):c.3051G>A (p.Trp1017Ter)	SNV Germline	Chr2:73449578	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_1671883598	1 SubmittersRCV001056417
NM_001378454.1(ALMS1):c.3493C>T (p.Pro1165Ser)	SNV Germline	Chr2:73450020	Conflicting classifications of pathogenicity	Alstrom syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_767103091	5 SubmittersRCV001047898 RCV001565552 RCV002451193
NM_001378454.1(ALMS1):c.4049A>G (p.His1350Arg)	SNV Germline	Chr2:73450576	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Alstrom syndrome	Criteria Provided Conflicting Classifications		rs_373366352	4 SubmittersRCV001559084 RCV002320242 RCV001038492
NM_001378454.1(ALMS1):c.6950T>C (p.Leu2317Pro)	SNV Germline	Chr2:73453477	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications		rs_185469456	4 SubmittersRCV001042287 RCV002372773 RCV003318658
NM_001378454.1(ALMS1):c.7399G>T (p.Glu2467Ter)	SNV Germline	Chr2:73453926	Pathogenic/Likely pathogenic	Alstrom syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_1198051503	4 SubmittersRCV001064588 RCV002307674 RCV002379588
NM_001378454.1(ALMS1):c.7433C>G (p.Ser2478Ter)	SNV Germline	Chr2:73453960	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_1303829798	2 SubmittersRCV001053606
NM_001378454.1(ALMS1):c.9974C>G (p.Ser3325Ter)	SNV Germline	Chr2:73550333	Pathogenic/Likely pathogenic	Alstrom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_754690894	2 SubmittersRCV001050007
NM_001378454.1(ALMS1):c.10241A>G (p.His3414Arg)	SNV Germline	Chr2:73558999	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_1674601435	2 SubmittersRCV001057013 RCV004629429
NM_001378454.1(ALMS1):c.12373C>T (p.Gln4125Ter)	SNV Germline	Chr2:73608485	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_1174712970	1 SubmittersRCV001053482
NM_001378454.1(ALMS1):c.9782-1G>A	SNV Germline	Chr2:73534823	Likely pathogenic	Alstrom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1673992163	3 SubmittersRCV001060831
NM_001378454.1(ALMS1):c.12115-2A>T	SNV Germline	Chr2:73602183	Likely pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_1394193524	2 SubmittersRCV001051018
NM_001378454.1(ALMS1):c.11669-2A>G	SNV Germline	Chr2:73600676	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_952110960	4 SubmittersRCV001036039 RCV004030968
NM_001378454.1(ALMS1):c.857C>G (p.Ser286Ter)	SNV Germline	Chr2:73424522	Pathogenic/Likely pathogenic	Retinal dystrophy Alstrom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1270472063	3 SubmittersRCV001075112 RCV001387181
NM_001378454.1(ALMS1):c.4934C>A (p.Ser1645Ter)	SNV Germline	Chr2:73451461	Pathogenic	Retinal dystrophy Alstrom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_774594040	2 SubmittersRCV001075532 RCV002554760
NM_001378454.1(ALMS1):c.5452C>T (p.Arg1818Ter)	SNV Germline	Chr2:73451979	Pathogenic/Likely pathogenic	Retinal dystrophy Condition: not provided Alstrom syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_749339938	6 SubmittersRCV001075441 RCV001700694 RCV001862613 RCV003293870
NM_001378454.1(ALMS1):c.5538G>T (p.Leu1846=)	SNV Germline	Chr2:73452065	Conflicting classifications of pathogenicity	Retinal dystrophy Alstrom syndrome	Criteria Provided Conflicting Classifications		rs_768057574	2 SubmittersRCV001074548 RCV003768998
NM_001378454.1(ALMS1):c.7531C>T (p.Arg2511Ter)	SNV Germline	Chr2:73454058	Pathogenic	Retinal dystrophy Alstrom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1315351235	2 SubmittersRCV001075165 RCV001217468
NM_001378454.1(ALMS1):c.10933C>T (p.Gln3645Ter)	SNV Germline	Chr2:73572810	Pathogenic/Likely pathogenic	Retinal dystrophy Alstrom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1674967197	3 SubmittersRCV001074590 RCV001387842
NM_001378454.1(ALMS1):c.11413C>T (p.Arg3805Ter)	SNV Germline	Chr2:73573290	Pathogenic	Retinal dystrophy Alstrom syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_376091780	5 SubmittersRCV001073417 RCV001222044 RCV004720757
NM_001378454.1(ALMS1):c.2755C>T (p.Gln919Ter)	SNV Germline	Chr2:73449282	Pathogenic	Alstrom syndrome	No Assertion Criteria Provided		rs_1322100078	1 SubmittersRCV001257320
NM_001378454.1(ALMS1):c.5380C>T (p.Gln1794Ter)	SNV Germline	Chr2:73451907	Pathogenic/Likely pathogenic	Condition: not provided Alstrom syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_759024519	4 SubmittersRCV001091465 RCV002489732 RCV002348551
NM_001378454.1(ALMS1):c.6302C>A (p.Ser2101Ter)	SNV Germline	Chr2:73452829	Pathogenic	Condition: not provided Alstrom syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_28730854	9 SubmittersRCV001091888 RCV001230120 RCV002365792
NM_001378454.1(ALMS1):c.8117A>G (p.Glu2706Gly)	SNV Germline	Chr2:73490076	Conflicting classifications of pathogenicity	Monogenic diabetes Alstrom syndrome	Criteria Provided Conflicting Classifications		rs_768090632	3 SubmittersRCV001172527 RCV001873595
NM_001378454.1(ALMS1):c.9779A>C (p.Asp3260Ala)	SNV Germline	Chr2:73520014	Conflicting classifications of pathogenicity	Monogenic diabetes Alstrom syndrome	Criteria Provided Conflicting Classifications		rs_745518051	2 SubmittersRCV001172528 RCV002557481
NM_001378454.1(ALMS1):c.9976G>C (p.Ala3326Pro)	SNV Germline	Chr2:73550335	Conflicting classifications of pathogenicity	Condition: not provided Monogenic diabetes Alstrom syndrome Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications		rs_201213079	7 SubmittersRCV001546161 RCV001172530 RCV001324083 RCV002379672 RCV003387969
NM_001378454.1(ALMS1):c.11323C>G (p.Leu3775Val)	SNV Germline	Chr2:73573200	Conflicting classifications of pathogenicity	Monogenic diabetes Alstrom syndrome Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications		rs_771595125	6 SubmittersRCV001172497 RCV001244765 RCV002320387 RCV004813829
NM_001378454.1(ALMS1):c.12103G>A (p.Ala4035Thr)	SNV Germline	Chr2:73601425	Conflicting classifications of pathogenicity	Monogenic diabetes Alstrom syndrome not specified	Criteria Provided Conflicting Classifications		rs_757364858	5 SubmittersRCV001172504 RCV001833728 RCV001328464
NM_001378454.1(ALMS1):c.3136C>T (p.Gln1046Ter)	SNV Germline	Chr2:73449663	Pathogenic	Alstrom syndrome	No Assertion Criteria Provided		rs_1671885850	2 SubmittersRCV001175181
NM_001378454.1(ALMS1):c.9733G>A (p.Ala3245Thr)	SNV Germline	Chr2:73519968	Conflicting classifications of pathogenicity	not specified Alstrom syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_200432874	5 SubmittersRCV001175498 RCV001828590 RCV004590113 RCV004629476
NM_001378454.1(ALMS1):c.3484A>G (p.Thr1162Ala)	SNV Germline	Chr2:73450011	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype ALMS1-related disorder Alstrom syndrome	Criteria Provided Conflicting Classifications		rs_763680884	4 SubmittersRCV001193869 RCV003163489 RCV004740613 RCV002504220
NM_001378454.1(ALMS1):c.4709C>T (p.Ser1570Phe)	SNV Germline	Chr2:73451236	Conflicting classifications of pathogenicity	not specified Alstrom syndrome	Criteria Provided Conflicting Classifications		rs_765461259	2 SubmittersRCV001195322 RCV002560196
NM_001378454.1(ALMS1):c.8563G>T (p.Gly2855Ter)	SNV Germline	Chr2:73490522	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_1672957185	1 SubmittersRCV001215765
NM_001378454.1(ALMS1):c.10988G>A (p.Trp3663Ter)	SNV Germline	Chr2:73572865	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_1674968936	1 SubmittersRCV001222508
NM_001378454.1(ALMS1):c.367C>T (p.Gln123Ter)	SNV Germline	Chr2:73408664	Pathogenic/Likely pathogenic	Alstrom syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_1392057115	3 SubmittersRCV001204779 RCV003225156 RCV004033626
NM_001378454.1(ALMS1):c.2038C>T (p.Arg680Ter)	SNV Germline	Chr2:73448565	Pathogenic	Alstrom syndrome Cardiovascular phenotype Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_115444326	5 SubmittersRCV001206802 RCV002418690 RCV003159188
NM_001378454.1(ALMS1):c.2203C>T (p.Gln735Ter)	SNV Germline	Chr2:73448730	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_757152182	1 SubmittersRCV001210020
NM_001378454.1(ALMS1):c.3325C>T (p.Gln1109Ter)	SNV Germline	Chr2:73449852	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_1671890891	1 SubmittersRCV001204166
NM_001378454.1(ALMS1):c.6094G>T (p.Gly2032Ter)	SNV Germline	Chr2:73452621	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_1671971419	1 SubmittersRCV001205824
NM_001378454.1(ALMS1):c.10357A>T (p.Lys3453Ter)	SNV Germline	Chr2:73559115	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_1674604760	1 SubmittersRCV001204874
NM_001378454.1(ALMS1):c.450+2T>C	SNV Germline	Chr2:73408749	Likely pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_1671019928	2 SubmittersRCV001205765
NM_001378454.1(ALMS1):c.12299-2A>G	SNV Germline	Chr2:73603239	Likely pathogenic	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_759788656	2 SubmittersRCV001201575 RCV002365901
NM_001378454.1(ALMS1):c.350G>A (p.Trp117Ter)	SNV Germline	Chr2:73408647	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_1671017057	1 SubmittersRCV001231719
NM_001378454.1(ALMS1):c.3150C>A (p.Tyr1050Ter)	SNV Germline	Chr2:73449677	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_1671886193	1 SubmittersRCV001233211
NM_001378454.1(ALMS1):c.4318C>T (p.Gln1440Ter)	SNV Germline	Chr2:73450845	Pathogenic/Likely pathogenic	Alstrom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1208636696	2 SubmittersRCV001238178
NM_001378454.1(ALMS1):c.10575C>A (p.His3525Gln)	SNV Germline	Chr2:73572452	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_1674954136	2 SubmittersRCV001233156 RCV004994352
NM_001378454.1(ALMS1):c.442G>A (p.Asp148Asn)	SNV Germline	Chr2:73408739	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_757606922	4 SubmittersRCV001245663 RCV002327599
NM_001378454.1(ALMS1):c.2156G>A (p.Arg719Lys)	SNV Germline	Chr2:73448683	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_923816827	4 SubmittersRCV001246200 RCV004629523
NM_001378454.1(ALMS1):c.2222C>T (p.Thr741Ile)	SNV Germline	Chr2:73448749	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_758047046	2 SubmittersRCV001240867 RCV004034664
NM_001378454.1(ALMS1):c.4173C>A (p.Phe1391Leu)	SNV Germline	Chr2:73450700	Conflicting classifications of pathogenicity	Alstrom syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_370406004	5 SubmittersRCV001246472 RCV001773561 RCV002327601
NM_001378454.1(ALMS1):c.8108C>T (p.Pro2703Leu)	SNV Germline	Chr2:73490067	Conflicting classifications of pathogenicity	Alstrom syndrome Condition: not provided Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications		rs_199604280	7 SubmittersRCV001244561 RCV001876293 RCV002418841 RCV003399007
NM_001378454.1(ALMS1):c.11104C>T (p.Arg3702Ter)	SNV Germline	Chr2:73572981	Pathogenic	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_747747269	2 SubmittersRCV001246836 RCV002451604
NM_001378454.1(ALMS1):c.7674+1G>T	SNV Germline	Chr2:73455296	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_1417025395	1 SubmittersRCV001235762
NM_001378454.1(ALMS1):c.2467C>T (p.Gln823Ter)	SNV Germline	Chr2:73448994	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_201853697	2 SubmittersRCV001255894
NM_001378454.1(ALMS1):c.5926C>T (p.Gln1976Ter)	SNV Germline	Chr2:73452453	Pathogenic	Alstrom syndrome	No Assertion Criteria Provided		rs_533606326	1 SubmittersRCV001255898
NM_001378454.1(ALMS1):c.8779C>T (p.Arg2927Ter)	SNV Germline	Chr2:73490738	Pathogenic	Alstrom syndrome Cardiovascular phenotype Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts		rs_376244626	7 SubmittersRCV001255899 RCV004035356 RCV004814033
NM_001378454.1(ALMS1):c.10972C>T (p.Arg3658Ter)	SNV Germline	Chr2:73572849	Pathogenic	Alstrom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_780438592	3 SubmittersRCV001255907
NM_001378454.1(ALMS1):c.1681G>A (p.Ala561Thr)	SNV Germline	Chr2:73448208	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_776104521	3 SubmittersRCV001277426 RCV004035448
NM_001378454.1(ALMS1):c.3582A>G (p.Gln1194=)	SNV Germline	Chr2:73450109	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_768478218	3 SubmittersRCV001277431 RCV002451634
NM_001378454.1(ALMS1):c.3974T>G (p.Val1325Gly)	SNV Germline	Chr2:73450501	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications		rs_868269804	5 SubmittersRCV001277432 RCV002375321 RCV004590294
NM_001378454.1(ALMS1):c.5765T>C (p.Val1922Ala)	SNV Germline	Chr2:73452292	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_761428155	3 SubmittersRCV001278758 RCV002357068
NM_001378454.1(ALMS1):c.4454T>C (p.Ile1485Thr)	SNV Germline	Chr2:73450981	Conflicting classifications of pathogenicity	not specified Alstrom syndrome Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications		rs_564400636	5 SubmittersRCV001280687 RCV001830075 RCV004035514 RCV004778042
NM_001378454.1(ALMS1):c.2785G>T (p.Glu929Ter)	SNV Germline	Chr2:73449312	Pathogenic	Alstrom syndrome	No Assertion Criteria Provided		rs_1572933082	1 SubmittersRCV001293389
NM_001378454.1(ALMS1):c.2542A>G (p.Thr848Ala)	SNV Germline	Chr2:73449069	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_777811953	3 SubmittersRCV001297221 RCV002430089
NM_001378454.1(ALMS1):c.3255G>T (p.Gln1085His)	SNV Germline	Chr2:73449782	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_181507134	4 SubmittersRCV001298073 RCV004619602
NM_001378454.1(ALMS1):c.2464C>T (p.Gln822Ter)	SNV Germline	Chr2:73448991	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_568037602	1 SubmittersRCV001335703
NM_001378454.1(ALMS1):c.2466A>G (p.Gln822=)	SNV Germline	Chr2:73448993	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_755661115	3 SubmittersRCV001350743 RCV002447433
NM_001378454.1(ALMS1):c.847G>C (p.Glu283Gln)	SNV Germline	Chr2:73424512	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_780066739	3 SubmittersRCV001369135 RCV004037072
NM_001378454.1(ALMS1):c.6639C>G (p.Asp2213Glu)	SNV Germline	Chr2:73453166	Conflicting classifications of pathogenicity	Alstrom syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_769322538	4 SubmittersRCV001364202 RCV001762628 RCV004036904
NM_001378454.1(ALMS1):c.8765T>C (p.Ile2922Thr)	SNV Germline	Chr2:73490724	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype ALMS1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications		rs_201738475	6 SubmittersRCV001361942 RCV002377514 RCV003394001 RCV004720870
NM_001378454.1(ALMS1):c.11668+1G>A	SNV Germline	Chr2:73599522	Pathogenic	Alstrom syndrome	No Assertion Criteria Provided		rs_1181992959	1 SubmittersRCV001375482
NM_001378454.1(ALMS1):c.5684C>G (p.Ser1895Cys)	SNV Germline	Chr2:73452211	Likely pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_2103787360	1 SubmittersRCV001376207
NM_001378454.1(ALMS1):c.647-2A>T	SNV Germline	Chr2:73422855	Likely pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_1671310097	1 SubmittersRCV001379006
NM_001378454.1(ALMS1):c.1432+2T>A	SNV Germline	Chr2:73432293	Likely pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_2103734661	1 SubmittersRCV001378042
NM_001378454.1(ALMS1):c.196G>T (p.Glu66Ter)	SNV Germline	Chr2:73386064	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_1169223296	1 SubmittersRCV001389560
NM_001378454.1(ALMS1):c.211G>T (p.Glu71Ter)	SNV Germline	Chr2:73386079	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_757131983	1 SubmittersRCV001384370
NM_001378454.1(ALMS1):c.1348G>T (p.Glu450Ter)	SNV Germline	Chr2:73432207	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_2103734325	1 SubmittersRCV001381078
NM_001378454.1(ALMS1):c.1447G>T (p.Gly483Ter)	SNV Germline	Chr2:73447974	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_2103771067	1 SubmittersRCV001383106
NM_001378454.1(ALMS1):c.2041C>T (p.Gln681Ter)	SNV Germline	Chr2:73448568	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_190439406	1 SubmittersRCV001381071
NM_001378454.1(ALMS1):c.2071C>T (p.Gln691Ter)	SNV Germline	Chr2:73448598	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_752875933	1 SubmittersRCV001384848
NM_001378454.1(ALMS1):c.2896C>T (p.Gln966Ter)	SNV Germline	Chr2:73449423	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_761177629	1 SubmittersRCV001384822
NM_001378454.1(ALMS1):c.4210G>T (p.Glu1404Ter)	SNV Germline	Chr2:73450737	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_2103781864	1 SubmittersRCV001384452
NM_001378454.1(ALMS1):c.4715C>G (p.Ser1572Ter)	SNV Germline	Chr2:73451242	Pathogenic	Alstrom syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_2103783763	2 SubmittersRCV001384453 RCV003128764
NM_001378454.1(ALMS1):c.6831C>A (p.Cys2277Ter)	SNV Germline	Chr2:73453358	Pathogenic/Likely pathogenic	Alstrom syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_761713440	3 SubmittersRCV001386970 RCV002509681
NM_001378454.1(ALMS1):c.7405G>T (p.Glu2469Ter)	SNV Germline	Chr2:73453932	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_373586405	1 SubmittersRCV001386398
NM_001378454.1(ALMS1):c.7589C>G (p.Ser2530Ter)	SNV Germline	Chr2:73455210	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_1572939837	1 SubmittersRCV001380127
NM_001378454.1(ALMS1):c.8653C>T (p.Arg2885Ter)	SNV Germline	Chr2:73490612	Pathogenic	Alstrom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_776563011	3 SubmittersRCV001384454
NM_001378454.1(ALMS1):c.9442C>T (p.Gln3148Ter)	SNV Germline	Chr2:73491401	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_917667192	1 SubmittersRCV001382588
NM_001378454.1(ALMS1):c.9834T>A (p.Tyr3278Ter)	SNV Germline	Chr2:73534876	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_1573000972	1 SubmittersRCV001390728
NM_001378454.1(ALMS1):c.10385-2A>G	SNV Germline	Chr2:73572260	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_1255779642	1 SubmittersRCV001384456
NM_001378454.1(ALMS1):c.10750C>T (p.Gln3584Ter)	SNV Germline	Chr2:73572627	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_192823093	1 SubmittersRCV001384457
NM_001378454.1(ALMS1):c.11707C>T (p.Arg3903Ter)	SNV Germline	Chr2:73600716	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_1290800821	1 SubmittersRCV001389803
NM_001378454.1(ALMS1):c.12124C>T (p.Gln4042Ter)	SNV Germline	Chr2:73602194	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_1675708936	1 SubmittersRCV001386194
NM_001378454.1(ALMS1):c.6820C>T (p.Leu2274=)	SNV Germline	Chr2:73453347	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype Intellectual disability	Criteria Provided Conflicting Classifications		rs_1447282271	3 SubmittersRCV001418138 RCV002368309 RCV001533006
NM_001378454.1(ALMS1):c.11632C>T (p.Gln3878Ter)	SNV Germline	Chr2:73599485	Likely pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_1675625092	1 SubmittersRCV001420808
NM_001378454.1(ALMS1):c.12093A>G (p.Pro4031=)	SNV Germline	Chr2:73601415	Conflicting classifications of pathogenicity	Alstrom syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_758682688	3 SubmittersRCV001438521 RCV001732183 RCV004631708
NM_001378454.1(ALMS1):c.2059C>T (p.His687Tyr)	SNV Germline	Chr2:73448586	Conflicting classifications of pathogenicity	not specified Alstrom syndrome Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications		rs_771266951	4 SubmittersRCV001449788 RCV001872006 RCV004038480 RCV004779121
NM_001378454.1(ALMS1):c.8688A>G (p.Ala2896=)	SNV Germline	Chr2:73490647	Conflicting classifications of pathogenicity	Alstrom syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_1338132238	2 SubmittersRCV001461052 RCV003318689
NM_001378454.1(ALMS1):c.6087T>C (p.Thr2029=)	SNV Germline	Chr2:73452614	Conflicting classifications of pathogenicity	Alstrom syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_199967386	3 SubmittersRCV001503597 RCV001762702 RCV002359128
NM_001378454.1(ALMS1):c.10214-4G>A	SNV Germline	Chr2:73558968	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_757482053	2 SubmittersRCV001502684 RCV002414218
NM_001378454.1(ALMS1):c.4002C>G (p.Tyr1334Ter)	SNV Germline	Chr2:73450529	Likely pathogenic	Alstrom syndrome Condition: not provided	Criteria Provided Single Submitter		rs_2103780942	2 SubmittersRCV001832751 RCV001551491
NM_001378454.1(ALMS1):c.1966G>T (p.Glu656Ter)	SNV Germline	Chr2:73448493	Likely pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_773971557	1 SubmittersRCV001553710
NM_001378454.1(ALMS1):c.4987A>G (p.Thr1663Ala)	SNV Germline	Chr2:73451514	Conflicting classifications of pathogenicity	Condition: not provided not specified Cardiovascular phenotype Alstrom syndrome	Criteria Provided Conflicting Classifications		rs_770424780	7 SubmittersRCV001573767 RCV002282566 RCV002343749 RCV002488399
NM_001378454.1(ALMS1):c.3477G>T (p.Leu1159Phe)	SNV Germline	Chr2:73450004	Conflicting classifications of pathogenicity	Condition: not provided Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_575644902	3 SubmittersRCV001575958 RCV002569082 RCV004995950
NM_001378454.1(ALMS1):c.10816C>T (p.Arg3606Trp)	SNV Germline	Chr2:73572693	Pathogenic	Leber congenital amaurosis Alstrom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1250097723	2 SubmittersRCV001591899 RCV001866158
NM_001378454.1(ALMS1):c.1900C>T (p.Gln634Ter)	SNV Germline	Chr2:73448427	Pathogenic/Likely pathogenic	Alstrom syndrome Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts		rs_780843883	4 SubmittersRCV001728015 RCV004815607
NM_001378454.1(ALMS1):c.109G>C (p.Val37Leu)	SNV Germline	Chr2:73385977	Conflicting classifications of pathogenicity	Condition: not provided Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_774784126	4 SubmittersRCV001732283 RCV002032712 RCV002324170
NM_001378454.1(ALMS1):c.4886G>A (p.Arg1629Gln)	SNV Germline	Chr2:73451413	Conflicting classifications of pathogenicity	Condition: not provided Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_142917664	4 SubmittersRCV001732439 RCV002032717 RCV002334652
NM_001378454.1(ALMS1):c.619A>T (p.Arg207Ter)	SNV Germline	Chr2:73419291	Pathogenic/Likely pathogenic	Condition: not provided Cardiovascular phenotype Alstrom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_771994237	5 SubmittersRCV001732993 RCV002361009 RCV002496060
NM_001378454.1(ALMS1):c.4888C>T (p.Gln1630Ter)	SNV Germline	Chr2:73451415	Pathogenic	Alstrom syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_974309886	3 SubmittersRCV002032733 RCV001733459 RCV003365442
NM_001378454.1(ALMS1):c.3914A>G (p.His1305Arg)	SNV Germline	Chr2:73450441	Conflicting classifications of pathogenicity	Condition: not provided Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_1394932968	3 SubmittersRCV001757950 RCV002539885 RCV004631734
NM_001378454.1(ALMS1):c.12275G>A (p.Arg4092His)	SNV Germline	Chr2:73602345	Conflicting classifications of pathogenicity	Condition: not provided Alstrom syndrome Cardiovascular phenotype Retinal dystrophy	Criteria Provided Conflicting Classifications		rs_748624161	5 SubmittersRCV001758838 RCV001885025 RCV002370288 RCV004815622
NM_001378454.1(ALMS1):c.2396A>G (p.Gln799Arg)	SNV Germline	Chr2:73448923	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Alstrom syndrome	Criteria Provided Conflicting Classifications		rs_530083993	4 SubmittersRCV001763782 RCV002458590 RCV002488593
NM_001378454.1(ALMS1):c.1153A>G (p.Ser385Gly)	SNV Germline	Chr2:73424818	Conflicting classifications of pathogenicity	Condition: not provided Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_761174114	4 SubmittersRCV001800008 RCV001885238 RCV002361058
NM_001378454.1(ALMS1):c.4068G>C (p.Glu1356Asp)	SNV Germline	Chr2:73450595	Conflicting classifications of pathogenicity	Condition: not provided Alstrom syndrome Cardiovascular phenotype Retinal dystrophy	Criteria Provided Conflicting Classifications		rs_376812264	6 SubmittersRCV001810340 RCV001869572 RCV002324208 RCV004815639
NM_001378454.1(ALMS1):c.3463C>T (p.His1155Tyr)	SNV Germline	Chr2:73449990	Likely pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_2103779035	1 SubmittersRCV001808222
NM_001378454.1(ALMS1):c.5088A>C (p.Gly1696=)	SNV Germline	Chr2:73451615	Conflicting classifications of pathogenicity	not specified Alstrom syndrome	Criteria Provided Conflicting Classifications		rs_2103785042	2 SubmittersRCV001819658 RCV003609194
NM_001378454.1(ALMS1):c.12115-1G>T	SNV Germline	Chr2:73602184	Pathogenic/Likely pathogenic	Condition: not provided Alstrom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_769160407	2 SubmittersRCV001817885 RCV001869791
NM_001378454.1(ALMS1):c.11668+1G>T	SNV Germline	Chr2:73599522	Pathogenic/Likely pathogenic	Alstrom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1181992959	2 SubmittersRCV002034253
NM_001378454.1(ALMS1):c.4948C>T (p.Pro1650Ser)	SNV Germline	Chr2:73451475	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_765233016	3 SubmittersRCV001880541 RCV002334746
NM_001378454.1(ALMS1):c.1237+2T>G	SNV Germline	Chr2:73424904	Likely pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_916056435	1 SubmittersRCV002018989
NM_001378454.1(ALMS1):c.4435G>A (p.Gly1479Arg)	SNV Germline	Chr2:73450962	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_750765175	3 SubmittersRCV001967941 RCV004996138
NM_001378454.1(ALMS1):c.10078+1G>T	SNV Germline	Chr2:73550438	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_765075310	2 SubmittersRCV002036669 RCV002443082
NM_001378454.1(ALMS1):c.6886C>T (p.Gln2296Ter)	SNV Germline	Chr2:73453413	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_747355678	1 SubmittersRCV001994572
NM_001378454.1(ALMS1):c.4571C>G (p.Ser1524Ter)	SNV Germline	Chr2:73451098	Pathogenic/Likely pathogenic	Alstrom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1558649531	2 SubmittersRCV001999883
NM_001378454.1(ALMS1):c.8444C>G (p.Ser2815Ter)	SNV Germline	Chr2:73490403	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_2103891827	1 SubmittersRCV001994595
NM_001378454.1(ALMS1):c.11547+3A>T	SNV Germline	Chr2:73573427	Likely pathogenic	Alstrom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1271250182	2 SubmittersRCV001994206
NM_001378454.1(ALMS1):c.1359T>A (p.Tyr453Ter)	SNV Germline	Chr2:73432218	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_2103734375	1 SubmittersRCV001950321
NM_001378454.1(ALMS1):c.3576C>G (p.Tyr1192Ter)	SNV Germline	Chr2:73450103	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_1671899045	1 SubmittersRCV001950787
NM_001378454.1(ALMS1):c.1480A>T (p.Lys494Ter)	SNV Germline	Chr2:73448007	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_2103771218	1 SubmittersRCV001946737
NM_001378454.1(ALMS1):c.1844C>G (p.Ser615Ter)	SNV Germline	Chr2:73448371	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_2103772444	1 SubmittersRCV001946781
NM_001378454.1(ALMS1):c.6826C>T (p.Arg2276Ter)	SNV Germline	Chr2:73453353	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_1238145717	1 SubmittersRCV001905142
NM_001378454.1(ALMS1):c.3944C>T (p.Ala1315Val)	SNV Germline	Chr2:73450471	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_750671777	2 SubmittersRCV001952275 RCV004631827
NM_001378454.1(ALMS1):c.9385C>T (p.Gln3129Ter)	SNV Germline	Chr2:73491344	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_1314034889	1 SubmittersRCV001950216
NM_001378454.1(ALMS1):c.9325C>T (p.Gln3109Ter)	SNV Germline	Chr2:73491284	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_1558667813	1 SubmittersRCV001949248
NM_001378454.1(ALMS1):c.1756C>T (p.Gln586Ter)	SNV Germline	Chr2:73448283	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_2103772104	1 SubmittersRCV001949302
NM_001378454.1(ALMS1):c.2513C>A (p.Ser838Ter)	SNV Germline	Chr2:73449040	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_2103775505	1 SubmittersRCV001891078
NM_001378454.1(ALMS1):c.1433-2A>G	SNV Germline	Chr2:73447958	Likely pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_2103770992	1 SubmittersRCV002005086
NM_001378454.1(ALMS1):c.3295C>A (p.Gln1099Lys)	SNV Germline	Chr2:73449822	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_764823951	3 SubmittersRCV001997098 RCV003170125
NM_001378454.1(ALMS1):c.5117C>T (p.Ser1706Leu)	SNV Germline	Chr2:73451644	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_1187000436	2 SubmittersRCV001929837 RCV004039924
NM_001378454.1(ALMS1):c.1517T>C (p.Ile506Thr)	SNV Germline	Chr2:73448044	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_976096963	2 SubmittersRCV001912463 RCV003166990
NM_001378454.1(ALMS1):c.11882G>A (p.Trp3961Ter)	SNV Germline	Chr2:73601204	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_1332287946	1 SubmittersRCV001958906
NM_001378454.1(ALMS1):c.10834C>T (p.Gln3612Ter)	SNV Germline	Chr2:73572711	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_756345976	1 SubmittersRCV001963024
NM_001378454.1(ALMS1):c.5318T>A (p.Leu1773Ter)	SNV Germline	Chr2:73451845	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_2103786025	1 SubmittersRCV001958956
NM_001378454.1(ALMS1):c.1402G>C (p.Val468Leu)	SNV Germline	Chr2:73432261	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_1409680993	2 SubmittersRCV001935464 RCV004042711
NM_001378454.1(ALMS1):c.974C>T (p.Ser325Leu)	SNV Germline	Chr2:73424639	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_376632767	4 SubmittersRCV002039994 RCV002386600
NM_001378454.1(ALMS1):c.10519A>G (p.Met3507Val)	SNV Germline	Chr2:73572396	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_1350031802	3 SubmittersRCV001972115 RCV004042896
NM_001378454.1(ALMS1):c.5963A>G (p.Tyr1988Cys)	SNV Germline	Chr2:73452490	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_757977017	2 SubmittersRCV001972246 RCV004996133
NM_001378454.1(ALMS1):c.5966C>A (p.Ser1989Ter)	SNV Germline	Chr2:73452493	Pathogenic/Likely pathogenic	Alstrom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_777080769	2 SubmittersRCV001916985
NM_001378454.1(ALMS1):c.2536G>T (p.Gly846Ter)	SNV Germline	Chr2:73449063	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_201154998	1 SubmittersRCV001926991
NM_001378454.1(ALMS1):c.11554A>T (p.Asn3852Tyr)	SNV Germline	Chr2:73599407	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_753182165	2 SubmittersRCV001927034 RCV004631834
NM_001378454.1(ALMS1):c.8684G>A (p.Arg2895His)	SNV Germline	Chr2:73490643	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications		rs_755542969	3 SubmittersRCV001864390 RCV002370413 RCV002265038
NM_001378454.1(ALMS1):c.9804T>A (p.Tyr3268Ter)	SNV Germline	Chr2:73534846	Pathogenic/Likely pathogenic	Alstrom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_368412850	2 SubmittersRCV002000002
NM_001378454.1(ALMS1):c.9905C>G (p.Ser3302Ter)	SNV Germline	Chr2:73534947	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_1673996095	1 SubmittersRCV002037780
NM_001378454.1(ALMS1):c.9352G>T (p.Gly3118Ter)	SNV Germline	Chr2:73491311	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_2103895712	1 SubmittersRCV002037807
NM_001378454.1(ALMS1):c.6467T>A (p.Leu2156Ter)	SNV Germline	Chr2:73452994	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_2103790206	1 SubmittersRCV002035505
NM_001378454.1(ALMS1):c.10214A>T (p.Asp3405Val)	SNV Germline	Chr2:73558972	Conflicting classifications of pathogenicity	Alstrom syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_781411724	4 SubmittersRCV002002920 RCV004591681 RCV004631899
NM_001378454.1(ALMS1):c.3649A>T (p.Lys1217Ter)	SNV Germline	Chr2:73450176	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_779928593	1 SubmittersRCV001939541
NM_001378454.1(ALMS1):c.11669-1G>C	SNV Germline	Chr2:73600677	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_750737346	1 SubmittersRCV001942968
NM_001378454.1(ALMS1):c.3112C>T (p.Gln1038Ter)	SNV Germline	Chr2:73449639	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_2103777652	1 SubmittersRCV001918866
NM_001378454.1(ALMS1):c.73G>T (p.Glu25Ter)	SNV Germline	Chr2:73385941	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_1285425883	1 SubmittersRCV001931192
NM_001378454.1(ALMS1):c.10214-2A>G	SNV Germline	Chr2:73558970	Likely pathogenic	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_2104063527	2 SubmittersRCV002037586 RCV003299030
NM_001378454.1(ALMS1):c.7540+2T>C	SNV Germline	Chr2:73454069	Likely pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_1672009270	1 SubmittersRCV002041589
NM_001378454.1(ALMS1):c.2312G>A (p.Ser771Asn)	SNV Germline	Chr2:73448839	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_2103774719	3 SubmittersRCV001913295 RCV004631809
NM_001378454.1(ALMS1):c.8044G>T (p.Glu2682Ter)	SNV Germline	Chr2:73490003	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_779187578	1 SubmittersRCV001946915
NM_001378454.1(ALMS1):c.5307C>A (p.Tyr1769Ter)	SNV Germline	Chr2:73451834	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_758678450	1 SubmittersRCV001913033
NM_001378454.1(ALMS1):c.10212A>G (p.Ala3404=)	SNV Germline	Chr2:73557353	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_755401614	2 SubmittersRCV001949922 RCV002407103
NM_001378454.1(ALMS1):c.9637C>G (p.Leu3213Val)	SNV Germline	Chr2:73519872	Conflicting classifications of pathogenicity	Alstrom syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_575305602	4 SubmittersRCV001949926 RCV003314710 RCV004041865
NM_001378454.1(ALMS1):c.11873-1G>C	SNV Germline	Chr2:73601194	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_2104195295	1 SubmittersRCV001951050
NM_001378454.1(ALMS1):c.8965C>T (p.Gln2989Ter)	SNV Germline	Chr2:73490924	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_2103894102	1 SubmittersRCV001946851
NM_001378454.1(ALMS1):c.1052G>A (p.Arg351Gln)	SNV Germline	Chr2:73424717	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_563989825	3 SubmittersRCV001889052 RCV002406999
NM_001378454.1(ALMS1):c.3514T>A (p.Ser1172Thr)	SNV Germline	Chr2:73450041	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_756748918	3 SubmittersRCV001875167 RCV002458698
NM_001378454.1(ALMS1):c.5905C>G (p.Pro1969Ala)	SNV Germline	Chr2:73452432	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_552496175	3 SubmittersRCV001871089 RCV002359338
NM_001378454.1(ALMS1):c.9579T>A (p.Ser3193=)	SNV Germline	Chr2:73519814	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_769786449	2 SubmittersRCV001909072 RCV004042583
NM_001378454.1(ALMS1):c.8998C>T (p.Gln3000Ter)	SNV Germline	Chr2:73490957	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_200930613	1 SubmittersRCV001949365
NM_001378454.1(ALMS1):c.4271T>A (p.Leu1424Ter)	SNV Germline	Chr2:73450798	Pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_2103782122	1 SubmittersRCV001956227
NM_001378454.1(ALMS1):c.450+1G>A	SNV Germline	Chr2:73408748	Likely pathogenic	Alstrom syndrome	Criteria Provided Single Submitter		rs_1302255267	1 SubmittersRCV002000964
NM_001378454.1(ALMS1):c.9397C>G (p.Pro3133Ala)	SNV Germline	Chr2:73491356	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_45493191	3 SubmittersRCV001941416 RCV002370584
NM_001378454.1(ALMS1):c.9607C>T (p.Gln3203Ter)	SNV Germline	Chr2:73519842	Pathogenic/Likely pathogenic	Alstrom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_956247442	2 SubmittersRCV001888235
NM_001378454.1(ALMS1):c.12040C>T (p.Arg4014Trp)	SNV Germline	Chr2:73601362	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications		rs_543346172	4 SubmittersRCV001927697 RCV002344004 RCV004728922
NM_001378454.1(ALMS1):c.3422C>G (p.Ser1141Ter)	SNV Germline	Chr2:73449949	Pathogenic	Alstrom syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_780622565	2 SubmittersRCV002049361 RCV004631757

NM_001378454.1(ALMS1):c.8380C>T (p.Gln2794Ter)

SNV
Germline

Chr2:73490339

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

CA252950

rs_193919338

2 SubmittersRCV000004176

NM_001378454.1(ALMS1):c.10989G>A (p.Trp3663Ter)

SNV
Germline

Chr2:73572866

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

CA252955

rs_193919339

2 SubmittersRCV000004180

NM_001378454.1(ALMS1):c.8161C>T (p.Arg2721Ter)

SNV
Germline

Chr2:73490120

Pathogenic

Condition: not provided
Alstrom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA252958

rs_193919340

5 SubmittersRCV003313026 RCV000004181

NM_001378454.1(ALMS1):c.1865A>G (p.Tyr622Cys)

SNV
Germline

Chr2:73448392

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA325671

rs_193922693

3 SubmittersRCV000317177 RCV002408479

NM_001378454.1(ALMS1):c.10942G>T (p.Glu3648Ter)

SNV
Germline

Chr2:73572819

Pathogenic

Alstrom syndrome

No Assertion Criteria Provided

CA261212

rs_397514576

1 SubmittersRCV000032964

NM_001378454.1(ALMS1):c.1897C>T (p.Gln633Ter)

SNV
Germline

Chr2:73448424

Pathogenic

Condition: not provided
Alstrom syndrome

Criteria Provided
Single Submitter

CA220126

rs_398122995

2 SubmittersRCV000077846 RCV000210460

NM_001378454.1(ALMS1):c.9786G>A (p.Gln3262=)

SNV
Germline

Chr2:73534828

Conflicting classifications of pathogenicity

Condition: not provided
Alstrom syndrome

Criteria Provided
Conflicting Classifications

CA236051

rs_757139660

2 SubmittersRCV000171295 RCV000675163

NM_001378454.1(ALMS1):c.11873-2A>T

SNV
Germline

Chr2:73601193

Pathogenic

Condition: not provided
Alstrom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA236054

rs_786205527

3 SubmittersRCV000171296 RCV002516556

NM_001378454.1(ALMS1):c.11017C>A (p.Leu3673Ile)

SNV
Germline

Chr2:73572894

Conflicting classifications of pathogenicity

Condition: not provided
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA240750

rs_549757247

6 SubmittersRCV000175083 RCV000634776 RCV002426835

NM_001378454.1(ALMS1):c.3092C>G (p.Thr1031Ser)

SNV
Germline

Chr2:73449619

Conflicting classifications of pathogenicity

Condition: not provided
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA247726

rs_199922877

6 SubmittersRCV000418778 RCV000634783 RCV002321711

NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val)

SNV
Germline

Chr2:73447980

Conflicting classifications of pathogenicity

not specified
Monogenic diabetes
Condition: not provided
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA247732

rs_73945001

15 SubmittersRCV000180331 RCV000445450 RCV000724486 RCV001080812 RCV002390443

NM_001378454.1(ALMS1):c.1838G>A (p.Gly613Asp)

SNV
Germline

Chr2:73448365

Conflicting classifications of pathogenicity

Condition: not provided
Monogenic diabetes
not specified
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA247738

rs_148040591

10 SubmittersRCV000180334 RCV000445510 RCV000825702 RCV001086118 RCV002408782

NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys)

SNV
Germline

Chr2:73448563

Conflicting classifications of pathogenicity

not specified
Alstrom syndrome
Condition: not provided
Monogenic diabetes
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA207921

rs_199573929

14 SubmittersRCV000194030 RCV000463604 RCV000726112 RCV001172511 RCV002415817

NM_001378454.1(ALMS1):c.6433C>T (p.Arg2145Ter)

SNV
Germline

Chr2:73452960

Pathogenic

Alstrom syndrome
Retinitis pigmentosa
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA277244

rs_770558150

8 SubmittersRCV000194023 RCV001723763 RCV001073778 RCV003148669

NM_001378454.1(ALMS1):c.8453C>T (p.Thr2818Ile)

SNV
Germline

Chr2:73490412

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA208029

rs_373211307

7 SubmittersRCV000194094 RCV000726038 RCV001066778 RCV002408855

NM_001378454.1(ALMS1):c.10480C>T (p.Gln3494Ter)

SNV
Germline

Chr2:73572357

Pathogenic

Alstrom syndrome
Condition: not provided
Cardiovascular phenotype
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA277038

rs_772624348

10 SubmittersRCV000192879 RCV001723762 RCV002399711 RCV004816321

NM_001378454.1(ALMS1):c.5142T>G (p.Tyr1714Ter)

SNV
Germline

Chr2:73451669

Pathogenic

Alstrom syndrome
Condition: not provided
Retinal dystrophy, early-onset severe
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA276964

rs_772136379

10 SubmittersRCV000192391 RCV000494458 RCV001255897 RCV002336519

NM_001378454.1(ALMS1):c.671C>A (p.Pro224His)

SNV
Germline

Chr2:73422881

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Monogenic diabetes
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA349503

rs_11889925

14 SubmittersRCV000224355 RCV000424132 RCV000445509 RCV001082986 RCV002363032

NM_001378454.1(ALMS1):c.10303A>G (p.Lys3435Glu)

SNV
Germline

Chr2:73559061

Conflicting classifications of pathogenicity

Monogenic diabetes
not specified
Condition: not provided
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA349410

rs_34071195

12 SubmittersRCV000445470 RCV000424086 RCV000710528 RCV001082556 RCV002381711

NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser)

SNV
Germline

Chr2:73572505

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Monogenic diabetes
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA349169

rs_45501594

14 SubmittersRCV000224685 RCV000434829 RCV000445553 RCV001079318 RCV002408898

NM_001378454.1(ALMS1):c.2819T>A (p.Leu940Ter)

SNV
Germline

Chr2:73449346

Pathogenic

Alstrom syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA352426

rs_539612316

8 SubmittersRCV000210366 RCV001818509 RCV002433919

NM_001378454.1(ALMS1):c.3781G>T (p.Glu1261Ter)

SNV
Germline

Chr2:73450308

Pathogenic/Likely pathogenic

Alstrom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA347276664

rs_1085307054

2 SubmittersRCV000490468

NM_001378454.1(ALMS1):c.6464A>G (p.Asp2155Gly)

SNV
Germline

Chr2:73452991

Conflicting classifications of pathogenicity

Condition: not provided
Monogenic diabetes
Alstrom syndrome
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1714067

rs_58093963

11 SubmittersRCV000224895 RCV000445367 RCV001079332 RCV001729468 RCV002365167

NM_001378454.1(ALMS1):c.611A>C (p.Glu204Ala)

SNV
Germline

Chr2:73419283

Conflicting classifications of pathogenicity

Alstrom syndrome
Monogenic diabetes
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1712898

rs_200054604

8 SubmittersRCV000234342 RCV000445446 RCV001762541 RCV002356303 RCV001820750

NM_001378454.1(ALMS1):c.2065A>G (p.Thr689Ala)

SNV
Germline

Chr2:73448592

Conflicting classifications of pathogenicity

Alstrom syndrome
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1713272

rs_201804994

8 SubmittersRCV000234517 RCV001723822 RCV002418023 RCV004782322

NM_001378454.1(ALMS1):c.3305A>C (p.Lys1102Thr)

SNV
Germline

Chr2:73449832

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1713500

rs_185586839

5 SubmittersRCV000231998 RCV002450702 RCV000734011

NM_001378454.1(ALMS1):c.4204A>G (p.Thr1402Ala)

SNV
Germline

Chr2:73450731

Conflicting classifications of pathogenicity

Alstrom syndrome
Condition: not provided
Cardiovascular phenotype
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1713659

rs_199649563

7 SubmittersRCV000229674 RCV000480638 RCV002327138 RCV004816445

NM_001378454.1(ALMS1):c.4329G>T (p.Leu1443Phe)

SNV
Germline

Chr2:73450856

Conflicting classifications of pathogenicity

Alstrom syndrome
not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1713690

rs_192499639

10 SubmittersRCV000233652 RCV002265706 RCV001706267 RCV002327139

NM_001378454.1(ALMS1):c.4400G>T (p.Gly1467Val)

SNV
Germline

Chr2:73450927

Conflicting classifications of pathogenicity

Condition: not provided
Monogenic diabetes
Alstrom syndrome
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1713705

rs_78102263

8 SubmittersRCV000520376 RCV001172521 RCV001088077 RCV002327141 RCV001820749

NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile)

SNV
Germline

Chr2:73451515

Conflicting classifications of pathogenicity

Alstrom syndrome
not specified
Monogenic diabetes
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1713808

rs_188807564

11 SubmittersRCV000227881 RCV000433447 RCV000445498 RCV001705277 RCV002338754

NM_001378454.1(ALMS1):c.5189A>G (p.Glu1730Gly)

SNV
Germline

Chr2:73451716

Conflicting classifications of pathogenicity

Condition: not provided
Alstrom syndrome
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1713836

rs_201390755

10 SubmittersRCV000731324 RCV001080878 RCV001701794 RCV002338755

NM_001378454.1(ALMS1):c.5433G>C (p.Lys1811Asn)

SNV
Germline

Chr2:73451960

Conflicting classifications of pathogenicity

Alstrom syndrome
not specified
Monogenic diabetes
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1713883

rs_78039319

10 SubmittersRCV000233437 RCV000428195 RCV000445537 RCV001795371 RCV002347903

NM_001378454.1(ALMS1):c.5462C>T (p.Pro1821Leu)

SNV
Germline

Chr2:73451989

Conflicting classifications of pathogenicity

Alstrom syndrome
Condition: not provided
Monogenic diabetes
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1713890

rs_200266868

7 SubmittersRCV000227137 RCV000731515 RCV001172523 RCV002347904

NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=)

SNV
Germline

Chr2:73490404

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1714469

rs_137932254

13 SubmittersRCV000276445 RCV000710534 RCV001083501 RCV002444914

NM_001378454.1(ALMS1):c.11353A>G (p.Ile3785Val)

SNV
Germline

Chr2:73573230

Conflicting classifications of pathogenicity

Alstrom syndrome
Condition: not provided
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1715173

rs_201819880

10 SubmittersRCV000233166 RCV000437494 RCV000825109 RCV002444912

NM_001378454.1(ALMS1):c.11641C>T (p.His3881Tyr)

SNV
Germline

Chr2:73599494

Conflicting classifications of pathogenicity

Alstrom syndrome
Condition: not provided
not specified
Monogenic diabetes
Cardiovascular phenotype
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1715264

rs_142278066

14 SubmittersRCV000229716 RCV000413261 RCV000825113 RCV001172499 RCV002321884 RCV004816443

NM_001378454.1(ALMS1):c.3899C>A (p.Ser1300Ter)

SNV
Germline

Chr2:73450426

Pathogenic

Alstrom syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA1713611

rs_769219669

2 SubmittersRCV001854999 RCV000760673

NM_001378454.1(ALMS1):c.8439A>G (p.Glu2813=)

SNV
Germline

Chr2:73490398

Conflicting classifications of pathogenicity

not specified
Alstrom syndrome

Criteria Provided
Conflicting Classifications

CA10586839

rs_886038617

3 SubmittersRCV000251843 RCV000320205

NM_001378454.1(ALMS1):c.11204C>A (p.Ser3735Ter)

SNV
Germline

Chr2:73573081

Pathogenic

Condition: not provided
Alstrom syndrome
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10602888

rs_367877017

4 SubmittersRCV000277971 RCV000672084 RCV004816472

NM_001378454.1(ALMS1):c.1264G>A (p.Asp422Asn)

SNV
Germline

Chr2:73426479

Conflicting classifications of pathogenicity

Alstrom syndrome
ALMS1-related disorder

Criteria Provided
Conflicting Classifications

CA10613939

rs_886056297

2 SubmittersRCV000266927 RCV003912419

NM_001378454.1(ALMS1):c.8479A>C (p.Arg2827=)

SNV
Germline

Chr2:73490438

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10613951

rs_886056312

2 SubmittersRCV000356271 RCV003380552

NM_001378454.1(ALMS1):c.8816A>G (p.Asp2939Gly)

SNV
Germline

Chr2:73490775

Conflicting classifications of pathogenicity

Alstrom syndrome
ALMS1-related disorder

Criteria Provided
Conflicting Classifications

CA10614378

rs_886056313

3 SubmittersRCV000275102 RCV003910303

NM_001378454.1(ALMS1):c.5931G>C (p.Lys1977Asn)

SNV
Germline

Chr2:73452458

Conflicting classifications of pathogenicity

Alstrom syndrome
ALMS1-related disorder

Criteria Provided
Conflicting Classifications

CA10616149

rs_886056305

2 SubmittersRCV000343648 RCV003910301

NM_001378454.1(ALMS1):c.6139T>A (p.Ser2047Thr)

SNV
Germline

Chr2:73452666

Conflicting classifications of pathogenicity

Alstrom syndrome
ALMS1-related disorder

Criteria Provided
Conflicting Classifications

CA10616150

rs_886056308

2 SubmittersRCV000358463 RCV003910302

NM_001378454.1(ALMS1):c.9886A>G (p.Thr3296Ala)

SNV
Germline

Chr2:73534928

Conflicting classifications of pathogenicity

not specified
Alstrom syndrome
Monogenic diabetes
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1714800

rs_58806616

9 SubmittersRCV000413135 RCV000461539 RCV001172529 RCV001692093 RCV002379270

NM_001378454.1(ALMS1):c.7820C>G (p.Ala2607Gly)

SNV
Germline

Chr2:73489779

Conflicting classifications of pathogenicity

not specified
Alstrom syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1714355

rs_140223281

5 SubmittersRCV000412739 RCV000860665 RCV002411280 RCV001729572

NM_001378454.1(ALMS1):c.10238A>G (p.Glu3413Gly)

SNV
Germline

Chr2:73558996

Conflicting classifications of pathogenicity

not specified
Alstrom syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1714949

rs_184779459

7 SubmittersRCV000413690 RCV000544449 RCV001569636 RCV002379273

NM_001378454.1(ALMS1):c.821G>A (p.Ser274Asn)

SNV
Germline

Chr2:73424486

Conflicting classifications of pathogenicity

Condition: not provided
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1712994

rs_767513098

3 SubmittersRCV000427541 RCV001078806 RCV004022274

NM_001378454.1(ALMS1):c.759T>A (p.Pro253=)

SNV
Germline

Chr2:73422969

Conflicting classifications of pathogenicity

not specified
Alstrom syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1712945

rs_201478438

5 SubmittersRCV000445066 RCV001080958 RCV000767098 RCV002393053

NM_001378454.1(ALMS1):c.1237+2T>C

SNV
Germline

Chr2:73424904

Likely pathogenic

Condition: not provided
Alstrom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16604259

rs_916056435

3 SubmittersRCV000444958 RCV000664556

NM_001378454.1(ALMS1):c.3290A>G (p.Tyr1097Cys)

SNV
Germline

Chr2:73449817

Conflicting classifications of pathogenicity

Condition: not provided
Alstrom syndrome
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1713496

rs_201816596

8 SubmittersRCV000418543 RCV000560896 RCV001821206 RCV002323649

NM_001378454.1(ALMS1):c.4134T>C (p.Ser1378=)

SNV
Germline

Chr2:73450661

Conflicting classifications of pathogenicity

Condition: not provided
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1713642

rs_200491758

5 SubmittersRCV000727438 RCV001080209 RCV002329000

NM_001378454.1(ALMS1):c.11872+18G>A

SNV
Germline

Chr2:73600899

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Alstrom syndrome

Criteria Provided
Conflicting Classifications

CA1715349

rs_139647347

7 SubmittersRCV000424257 RCV000514668 RCV001521079

NM_001378454.1(ALMS1):c.1634C>T (p.Thr545Ile)

SNV
Germline

Chr2:73448161

Conflicting classifications of pathogenicity

Condition: not provided
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1713203

rs_772068213

5 SubmittersRCV000420579 RCV001828439 RCV004022464

NM_001378454.1(ALMS1):c.6302C>G (p.Ser2101Trp)

SNV
Germline

Chr2:73452829

Conflicting classifications of pathogenicity

not specified
Alstrom syndrome
Monogenic diabetes
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1714043

rs_28730854

5 SubmittersRCV000439863 RCV000865671 RCV001172506 RCV002365550 RCV001698278

NM_001378454.1(ALMS1):c.8890A>G (p.Ile2964Val)

SNV
Germline

Chr2:73490849

Conflicting classifications of pathogenicity

Alstrom syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1714563

rs_529506570

4 SubmittersRCV001828458 RCV001704551 RCV002374730

NM_001378454.1(ALMS1):c.10892G>A (p.Arg3631His)

SNV
Germline

Chr2:73572769

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1715085

rs_142558799

10 SubmittersRCV000431898 RCV000766969 RCV001086177 RCV002418323

NM_001378454.1(ALMS1):c.1548C>G (p.Asp516Glu)

SNV
Germline

Chr2:73448075

Conflicting classifications of pathogenicity

not specified
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1713191

rs_202002052

4 SubmittersRCV000443659 RCV000860715 RCV002402200

NM_001378454.1(ALMS1):c.11411G>C (p.Arg3804Thr)

SNV
Germline

Chr2:73573288

Conflicting classifications of pathogenicity

Condition: not provided
Alstrom syndrome
Cardiovascular phenotype
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1715186

rs_201028172

7 SubmittersRCV000434442 RCV000548287 RCV002451038 RCV004816663

NM_001378454.1(ALMS1):c.4344A>G (p.Leu1448=)

SNV
Germline

Chr2:73450871

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1713693

rs_200459890

6 SubmittersRCV000417591 RCV000734383 RCV001084110 RCV002328997

NM_001378454.1(ALMS1):c.5827C>T (p.Arg1943Cys)

SNV
Germline

Chr2:73452354

Conflicting classifications of pathogenicity

Condition: not provided
Alstrom syndrome
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1713946

rs_370398704

6 SubmittersRCV000430402 RCV000477620 RCV004689739 RCV002356626

NM_001378454.1(ALMS1):c.12004C>T (p.Arg4002Trp)

SNV
Germline

Chr2:73601326

Conflicting classifications of pathogenicity

Condition: not provided
Alstrom syndrome
Cardiovascular phenotype
not specified
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1715400

rs_200897773

11 SubmittersRCV000436491 RCV000464330 RCV002348248 RCV004782381 RCV004816665

NM_001378454.1(ALMS1):c.12108C>G (p.Thr4036=)

SNV
Germline

Chr2:73601430

Conflicting classifications of pathogenicity

Condition: not provided
Alstrom syndrome

Criteria Provided
Conflicting Classifications

CA1715426

rs_767174517

2 SubmittersRCV000424951 RCV001506189

NM_001378454.1(ALMS1):c.2536G>A (p.Gly846Arg)

SNV
Germline

Chr2:73449063

Conflicting classifications of pathogenicity

Alstrom syndrome
not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1713374

rs_201154998

4 SubmittersRCV000468401 RCV000418320 RCV000767099 RCV002429455

NM_001378454.1(ALMS1):c.3103C>T (p.Pro1035Ser)

SNV
Germline

Chr2:73449630

Conflicting classifications of pathogenicity

Condition: not provided
Alstrom syndrome
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1713461

rs_531648685

6 SubmittersRCV000431219 RCV001242965 RCV001251290 RCV002323644

NM_001378454.1(ALMS1):c.4448T>C (p.Ile1483Thr)

SNV
Germline

Chr2:73450975

Conflicting classifications of pathogenicity

Condition: not provided
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1713713

rs_370271775

5 SubmittersRCV000432091 RCV000665780 RCV002328999

NM_001378454.1(ALMS1):c.6082T>C (p.Ser2028Pro)

SNV
Germline

Chr2:73452609

Conflicting classifications of pathogenicity

not specified
Alstrom syndrome
Monogenic diabetes
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1713998

rs_149096794

8 SubmittersRCV000436669 RCV000468666 RCV001172526 RCV001580495 RCV002356622

NM_001378454.1(ALMS1):c.6361G>C (p.Val2121Leu)

SNV
Germline

Chr2:73452888

Conflicting classifications of pathogenicity

Condition: not provided
Monogenic diabetes
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1714056

rs_200368564

6 SubmittersRCV000421757 RCV000445488 RCV001272958 RCV002365572

NM_001378454.1(ALMS1):c.6537C>T (p.Thr2179=)

SNV
Germline

Chr2:73453064

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1714080

rs_371511963

7 SubmittersRCV000431183 RCV000730690 RCV001084643 RCV002365556

NM_001378454.1(ALMS1):c.8411G>A (p.Arg2804His)

SNV
Germline

Chr2:73490370

Conflicting classifications of pathogenicity

Alstrom syndrome
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1714465

rs_201252809

11 SubmittersRCV000468894 RCV000514773 RCV002446761 RCV003114574

NM_001378454.1(ALMS1):c.8883G>A (p.Pro2961=)

SNV
Germline

Chr2:73490842

Conflicting classifications of pathogenicity

not specified
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1714562

rs_367862140

5 SubmittersRCV000441258 RCV000670946 RCV002446756

NM_001378454.1(ALMS1):c.11708G>A (p.Arg3903Gln)

SNV
Germline

Chr2:73600717

Conflicting classifications of pathogenicity

not specified
Alstrom syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1715302

rs_201673771

7 SubmittersRCV000434472 RCV000634782 RCV000766766 RCV002328975

NM_001378454.1(ALMS1):c.12438G>T (p.Arg4146=)

SNV
Germline

Chr2:73608550

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1715579

rs_35902379

6 SubmittersRCV000424426 RCV000732303 RCV001080112 RCV002379371

NM_001378454.1(ALMS1):c.2038C>G (p.Arg680Gly)

SNV
Germline

Chr2:73448565

Conflicting classifications of pathogenicity

Monogenic diabetes
not specified
Condition: not provided
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1713262

rs_115444326

8 SubmittersRCV000445480 RCV000592736 RCV000727320 RCV001081278 RCV002418344

NM_001378454.1(ALMS1):c.4163C>T (p.Pro1388Leu)

SNV
Germline

Chr2:73450690

Conflicting classifications of pathogenicity

Monogenic diabetes
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1713648

rs_377354387

5 SubmittersRCV000445475 RCV000537876 RCV004022532

NM_001378454.1(ALMS1):c.4405C>A (p.Pro1469Thr)

SNV
Germline

Chr2:73450932

Conflicting classifications of pathogenicity

Monogenic diabetes
Alstrom syndrome
not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1713706

rs_373638043

10 SubmittersRCV000445538 RCV000666784 RCV001201200 RCV001575003 RCV002329006

NM_001378454.1(ALMS1):c.5990A>G (p.Lys1997Arg)

SNV
Germline

Chr2:73452517

Conflicting classifications of pathogenicity

Monogenic diabetes
Alstrom syndrome
Cardiovascular phenotype
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1713977

rs_150331660

7 SubmittersRCV000445492 RCV000665779 RCV002356627 RCV004816667

NM_001378454.1(ALMS1):c.8257C>A (p.His2753Asn)

SNV
Germline

Chr2:73490216

Conflicting classifications of pathogenicity

Monogenic diabetes
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1714432

rs_200718841

6 SubmittersRCV000445456 RCV000667911 RCV003168711

NM_001378454.1(ALMS1):c.9389C>G (p.Pro3130Arg)

SNV
Germline

Chr2:73491348

Conflicting classifications of pathogenicity

Monogenic diabetes
Condition: not provided
not specified
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1714652

rs_200586877

9 SubmittersRCV000445473 RCV001552478 RCV001193867 RCV000577939 RCV002374731

NM_001378454.1(ALMS1):c.12295A>G (p.Arg4099Gly)

SNV
Germline

Chr2:73602365

Conflicting classifications of pathogenicity

Monogenic diabetes
Cardiovascular phenotype
Alstrom syndrome

Criteria Provided
Conflicting Classifications

CA16609247

rs_1057524885

3 SubmittersRCV000445485 RCV002365576 RCV002522730

NM_001378454.1(ALMS1):c.356A>G (p.Gln119Arg)

SNV
Germline

Chr2:73408653

Conflicting classifications of pathogenicity

Alstrom syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1712819

rs_371516347

5 SubmittersRCV000469202 RCV001584125 RCV002451062

NM_001378454.1(ALMS1):c.7244C>A (p.Ser2415Ter)

SNV
Germline

Chr2:73453771

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

CA16611015

rs_1060500039

1 SubmittersRCV000472278

NM_001378454.1(ALMS1):c.10318A>G (p.Arg3440Gly)

SNV
Germline

Chr2:73559076

Conflicting classifications of pathogenicity

Alstrom syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1714963

rs_746702722

5 SubmittersRCV000465433 RCV001539961 RCV002393076

NM_001378454.1(ALMS1):c.9006G>C (p.Lys3002Asn)

SNV
Germline

Chr2:73490965

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1714582

rs_753980616

4 SubmittersRCV000466728 RCV004992221

NM_001378454.1(ALMS1):c.9712C>T (p.Arg3238Cys)

SNV
Germline

Chr2:73519947

Conflicting classifications of pathogenicity

Condition: not provided
Alstrom syndrome
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1714745

rs_201252375

7 SubmittersRCV000520369 RCV001082321 RCV001269158 RCV002374738

NM_001378454.1(ALMS1):c.4885C>T (p.Arg1629Trp)

SNV
Germline

Chr2:73451412

Conflicting classifications of pathogenicity

Condition: not provided
Alstrom syndrome
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1713784

rs_201874722

6 SubmittersRCV000493173 RCV001080781 RCV001821220 RCV002339109

NM_001378454.1(ALMS1):c.8920C>T (p.Pro2974Ser)

SNV
Germline

Chr2:73490879

Conflicting classifications of pathogenicity

Alstrom syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA16611112

rs_1043429291

4 SubmittersRCV000461372 RCV000786095 RCV004629217

NM_001378454.1(ALMS1):c.1609C>G (p.Leu537Val)

SNV
Germline

Chr2:73448136

Conflicting classifications of pathogenicity

Alstrom syndrome
Condition: not provided
Monogenic diabetes
not specified
Cardiovascular phenotype
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1713199

rs_202111717

10 SubmittersRCV000476920 RCV000732324 RCV001172510 RCV001358710 RCV002393077 RCV004816673

NM_001378454.1(ALMS1):c.3689G>A (p.Gly1230Glu)

SNV
Germline

Chr2:73450216

Conflicting classifications of pathogenicity

Alstrom syndrome
Condition: not provided
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1713573

rs_372619046

6 SubmittersRCV000462849 RCV000523577 RCV001195325 RCV002348257

NM_001378454.1(ALMS1):c.5587C>T (p.Gln1863Ter)

SNV
Germline

Chr2:73452114

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

CA1713910

rs_769440001

1 SubmittersRCV000463457

NM_001378454.1(ALMS1):c.11407C>T (p.Pro3803Ser)

SNV
Germline

Chr2:73573284

Conflicting classifications of pathogenicity

Alstrom syndrome
Monogenic diabetes
not specified
Condition: not provided
Cardiovascular phenotype
ALMS1-related disorder

Criteria Provided
Conflicting Classifications

CA1715185

rs_189032342

9 SubmittersRCV000471192 RCV001172498 RCV001260369 RCV001573772 RCV002451150 RCV004740247

NM_001378454.1(ALMS1):c.6442C>A (p.Pro2148Thr)

SNV
Germline

Chr2:73452969

Conflicting classifications of pathogenicity

Condition: not provided
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1714063

rs_377360750

4 SubmittersRCV000480373 RCV000546991 RCV002367657

NM_001378454.1(ALMS1):c.9880G>C (p.Asp3294His)

SNV
Germline

Chr2:73534922

Conflicting classifications of pathogenicity

Condition: not provided
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1714798

rs_200441305

4 SubmittersRCV000479594 RCV001085744 RCV002383930

NM_001378454.1(ALMS1):c.11584T>C (p.Ser3862Pro)

SNV
Germline

Chr2:73599437

Conflicting classifications of pathogenicity

Condition: not provided
Alstrom syndrome
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1715252

rs_202227966

6 SubmittersRCV000481715 RCV000704301 RCV000825863 RCV002356791

NM_001378454.1(ALMS1):c.11939C>T (p.Thr3980Ile)

SNV
Germline

Chr2:73601261

Conflicting classifications of pathogenicity

Condition: not provided
Alstrom syndrome
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1715388

rs_200568988

5 SubmittersRCV000485283 RCV001040891 RCV001264558 RCV002350076

NM_001378454.1(ALMS1):c.2184A>G (p.Gln728=)

SNV
Germline

Chr2:73448711

Conflicting classifications of pathogenicity

Condition: not provided
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1713297

rs_572605877

5 SubmittersRCV000489973 RCV001834583 RCV002431427

NM_001378454.1(ALMS1):c.2535C>G (p.Asp845Glu)

SNV
Germline

Chr2:73449062

Conflicting classifications of pathogenicity

Condition: not provided
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1713373

rs_77517267

4 SubmittersRCV000489305 RCV001084303 RCV002431429

NM_001378454.1(ALMS1):c.8281C>G (p.Pro2761Ala)

SNV
Germline

Chr2:73490240

Conflicting classifications of pathogenicity

Condition: not provided
Alstrom syndrome
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1714439

rs_369650940

6 SubmittersRCV000489619 RCV000526705 RCV002431428 RCV003323567

NM_001378454.1(ALMS1):c.11765A>G (p.Asn3922Ser)

SNV
Germline

Chr2:73600774

Conflicting classifications of pathogenicity

Condition: not provided
Alstrom syndrome
Monogenic diabetes
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1715316

rs_199874928

7 SubmittersRCV000489710 RCV001088400 RCV001172500 RCV002329166 RCV002282171

NM_001378454.1(ALMS1):c.10354A>G (p.Asn3452Asp)

SNV
Germline

Chr2:73559112

Conflicting classifications of pathogenicity

not specified
Alstrom syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1714970

rs_573748379

6 SubmittersRCV000494528 RCV001271700 RCV000766679 RCV002395195

NM_001378454.1(ALMS1):c.346G>A (p.Val116Ile)

SNV
Germline

Chr2:73408643

Conflicting classifications of pathogenicity

Condition: not provided
Alstrom syndrome
not specified
Retinal dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA50351990

rs_752342634

7 SubmittersRCV000498257 RCV001319114 RCV003323572 RCV004816735 RCV004992284

NM_001378454.1(ALMS1):c.2893T>C (p.Tyr965His)

SNV
Germline

Chr2:73449420

Conflicting classifications of pathogenicity

Condition: not provided
Alstrom syndrome
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1713431

rs_201180147

6 SubmittersRCV000498266 RCV000798904 RCV000825867 RCV002438208

NM_001378454.1(ALMS1):c.5221G>C (p.Val1741Leu)

SNV
Germline

Chr2:73451748

Conflicting classifications of pathogenicity

Condition: not provided
Alstrom syndrome
not specified
Retinal dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA50396469

rs_962844498

7 SubmittersRCV000497636 RCV001351232 RCV003323573 RCV004816736 RCV004992285

NM_001378454.1(ALMS1):c.5827C>A (p.Arg1943Ser)

SNV
Germline

Chr2:73452354

Conflicting classifications of pathogenicity

Condition: not provided
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA50397074

rs_370398704

5 SubmittersRCV000498239 RCV001370621 RCV004992286

NM_001378454.1(ALMS1):c.8904A>G (p.Gln2968=)

SNV
Germline

Chr2:73490863

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Alstrom syndrome

Criteria Provided
Conflicting Classifications

CA1714567

rs_777796888

4 SubmittersRCV000499936 RCV002376917 RCV001364424

NM_001378454.1(ALMS1):c.9460A>T (p.Thr3154Ser)

SNV
Germline

Chr2:73491419

Conflicting classifications of pathogenicity

not specified
Alstrom syndrome
Cardiovascular phenotype
Hearing impairment
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1714662

rs_553507775

8 SubmittersRCV000499603 RCV001245670 RCV002376916 RCV001375363 RCV004691792

NM_001378454.1(ALMS1):c.10882C>T (p.Arg3628Ter)

SNV
Germline

Chr2:73572759

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Alstrom syndrome
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA347286010

rs_1473611414

6 SubmittersRCV003222006 RCV000503366 RCV004817720 RCV001576245

NM_001378454.1(ALMS1):c.1451G>A (p.Gly484Asp)

SNV
Germline

Chr2:73447978

Conflicting classifications of pathogenicity

not specified
Alstrom syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1713175

rs_374663067

7 SubmittersRCV000523025 RCV000798208 RCV001707718 RCV002395252

NM_001378454.1(ALMS1):c.4024G>A (p.Val1342Ile)

SNV
Germline

Chr2:73450551

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Alstrom syndrome

Criteria Provided
Conflicting Classifications

CA1713624

rs_751346260

4 SubmittersRCV000522241 RCV002358409 RCV002481704

NM_001378454.1(ALMS1):c.5683T>A (p.Ser1895Thr)

SNV
Germline

Chr2:73452210

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Alstrom syndrome

Criteria Provided
Conflicting Classifications

CA347282958

rs_1288519568

4 SubmittersRCV000520759 RCV004023600 RCV001858012

NM_001378454.1(ALMS1):c.6827G>A (p.Arg2276Gln)

SNV
Germline

Chr2:73453354

Conflicting classifications of pathogenicity

Alstrom syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1714130

rs_200979896

6 SubmittersRCV000545359 RCV000726963 RCV003159689

NM_001378454.1(ALMS1):c.10774A>G (p.Thr3592Ala)

SNV
Germline

Chr2:73572651

Conflicting classifications of pathogenicity

Condition: not provided
Alstrom syndrome
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1715057

rs_200467041

6 SubmittersRCV000524071 RCV000803220 RCV001255513 RCV002420308

NM_001378454.1(ALMS1):c.11255A>G (p.Asn3752Ser)

SNV
Germline

Chr2:73573132

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1715145

rs_199917289

7 SubmittersRCV000523193 RCV001328364 RCV001242906 RCV002438254

NM_001378454.1(ALMS1):c.12037G>A (p.Gly4013Ser)

SNV
Germline

Chr2:73601359

Conflicting classifications of pathogenicity

Condition: not provided
Alstrom syndrome
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1715407

rs_541576664

7 SubmittersRCV000519349 RCV000765700 RCV003159669 RCV003387868

NM_001378454.1(ALMS1):c.2665A>G (p.Ile889Val)

SNV
Germline

Chr2:73449192

Conflicting classifications of pathogenicity

Alstrom syndrome
not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1713394

rs_377282102

4 SubmittersRCV000559994 RCV000825112 RCV001566317 RCV002456083

NM_001378454.1(ALMS1):c.12164G>A (p.Arg4055Gln)

SNV
Germline

Chr2:73602234

Conflicting classifications of pathogenicity

Alstrom syndrome
Monogenic diabetes
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1715470

rs_752714698

7 SubmittersRCV000551773 RCV001172505 RCV001548165 RCV002358474

NM_001378454.1(ALMS1):c.4180C>T (p.Gln1394Ter)

SNV
Germline

Chr2:73450707

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

CA50393225

rs_969786171

1 SubmittersRCV000548073

NM_001378454.1(ALMS1):c.4222G>A (p.Val1408Ile)

SNV
Germline

Chr2:73450749

Conflicting classifications of pathogenicity

Alstrom syndrome
Monogenic diabetes
Condition: not provided
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1713661

rs_200529564

7 SubmittersRCV000526065 RCV001172518 RCV001565361 RCV001375572 RCV002330845

NM_001378454.1(ALMS1):c.4316A>C (p.Tyr1439Ser)

SNV
Germline

Chr2:73450843

Conflicting classifications of pathogenicity

Alstrom syndrome
Monogenic diabetes
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1713687

rs_201971114

7 SubmittersRCV000540788 RCV001172520 RCV002284406 RCV002330846 RCV003330761

NM_001378454.1(ALMS1):c.8416T>G (p.Phe2806Val)

SNV
Germline

Chr2:73490375

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1714466

rs_763332859

4 SubmittersRCV000541151 RCV002448655 RCV004817764

NM_001378454.1(ALMS1):c.1051C>T (p.Arg351Ter)

SNV
Germline

Chr2:73424716

Pathogenic

Alstrom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA347261385

rs_1275113273

4 SubmittersRCV000537166

NM_001378454.1(ALMS1):c.6637G>T (p.Asp2213Tyr)

SNV
Germline

Chr2:73453164

Conflicting classifications of pathogenicity

Alstrom syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1714099

rs_367656336

6 SubmittersRCV000557119 RCV003222021 RCV002367800

NM_001378454.1(ALMS1):c.1816G>T (p.Gly606Ter)

SNV
Germline

Chr2:73448343

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

CA347265496

rs_1553403321

1 SubmittersRCV000528709

NM_001378454.1(ALMS1):c.3307C>G (p.Pro1103Ala)

SNV
Germline

Chr2:73449834

Conflicting classifications of pathogenicity

Alstrom syndrome
not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1713501

rs_200257398

7 SubmittersRCV000534661 RCV001449720 RCV001549994 RCV002323937

NM_001378454.1(ALMS1):c.3727G>C (p.Glu1243Gln)

SNV
Germline

Chr2:73450254

Conflicting classifications of pathogenicity

Alstrom syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1713581

rs_372620412

5 SubmittersRCV000549164 RCV002286752 RCV002350215

NM_001378454.1(ALMS1):c.4758A>G (p.Pro1586=)

SNV
Germline

Chr2:73451285

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1713759

rs_778600773

3 SubmittersRCV000551169 RCV002341288 RCV004817763

NM_001378454.1(ALMS1):c.6020A>G (p.Gln2007Arg)

SNV
Germline

Chr2:73452547

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA50397314

rs_1047348249

3 SubmittersRCV000558186 RCV002358477

NM_001378454.1(ALMS1):c.5143A>T (p.Arg1715Ter)

SNV
Germline

Chr2:73451670

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

CA347280118

rs_773513360

1 SubmittersRCV000578023

NM_001378454.1(ALMS1):c.10822C>T (p.Arg3608Ter)

SNV
Germline

Chr2:73572699

Pathogenic

Condition: not provided
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA347285703

rs_1192396248

6 SubmittersRCV000578563 RCV000984142 RCV004629241

NM_001378454.1(ALMS1):c.11991G>A (p.Trp3997Ter)

SNV
Germline

Chr2:73601313

Pathogenic/Likely pathogenic

Condition: not provided
Alstrom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA347266231

rs_1553421725

2 SubmittersRCV000578510 RCV001219856

NM_001378454.1(ALMS1):c.11328C>T (p.His3776=)

SNV
Germline

Chr2:73573205

Conflicting classifications of pathogenicity

Condition: not provided
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1715169

rs_45596541

5 SubmittersRCV000726755 RCV001085927 RCV002448831

NM_001378454.1(ALMS1):c.3432C>T (p.Tyr1144=)

SNV
Germline

Chr2:73449959

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Alstrom syndrome

Criteria Provided
Conflicting Classifications

CA1713525

rs_768929630

3 SubmittersRCV000592676 RCV003160030 RCV003609158

NM_001378454.1(ALMS1):c.8359A>G (p.Ile2787Val)

SNV
Germline

Chr2:73490318

Conflicting classifications of pathogenicity

Condition: not provided
Alstrom syndrome
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1714456

rs_200075429

7 SubmittersRCV000595220 RCV000794425 RCV001175497 RCV002438538

NM_001378454.1(ALMS1):c.3375A>G (p.Val1125=)

SNV
Germline

Chr2:73449902

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1713514

rs_189914793

6 SubmittersRCV000727078 RCV000592923 RCV001088498 RCV002456303

NM_001378454.1(ALMS1):c.9589T>A (p.Ser3197Thr)

SNV
Germline

Chr2:73519824

Conflicting classifications of pathogenicity

Condition: not provided
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1714705

rs_369682692

7 SubmittersRCV000595407 RCV000664857 RCV002377234

NM_001378454.1(ALMS1):c.813G>A (p.Ser271=)

SNV
Germline

Chr2:73424478

Conflicting classifications of pathogenicity

Condition: not provided
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1712992

rs_775482774

4 SubmittersRCV000596701 RCV002476324 RCV002420577

NM_001378454.1(ALMS1):c.7441G>A (p.Ala2481Thr)

SNV
Germline

Chr2:73453968

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Alstrom syndrome
Cardiovascular phenotype
ALMS1-related disorder

Criteria Provided
Conflicting Classifications

CA1714233

rs_760068474

5 SubmittersRCV000603830 RCV001539273 RCV001860344 RCV003380641 RCV004740370

NM_001378454.1(ALMS1):c.8837A>G (p.His2946Arg)

SNV
Germline

Chr2:73490796

Conflicting classifications of pathogenicity

not specified
Alstrom syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1714555

rs_574785830

5 SubmittersRCV000609389 RCV001050820 RCV001584424 RCV003160072

NM_001378454.1(ALMS1):c.7377C>T (p.Ser2459=)

SNV
Germline

Chr2:73453904

Conflicting classifications of pathogenicity

not specified
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA427023734

rs_867561704

3 SubmittersRCV000612026 RCV002529520 RCV004992392

NM_001378454.1(ALMS1):c.10079-11C>T

SNV
Germline

Chr2:73557209

Conflicting classifications of pathogenicity

Alstrom syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1714873

rs_368250605

4 SubmittersRCV001523555 RCV001704708 RCV001821735

NM_001378454.1(ALMS1):c.9782-19C>A

SNV
Germline

Chr2:73534805

Conflicting classifications of pathogenicity

not specified
Alstrom syndrome

Criteria Provided
Conflicting Classifications

CA1714781

rs_777706370

3 SubmittersRCV000612132 RCV002064006

NM_001378454.1(ALMS1):c.11748G>A (p.Glu3916=)

SNV
Germline

Chr2:73600757

Conflicting classifications of pathogenicity

not specified
Alstrom syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1715311

rs_373364340

5 SubmittersRCV000603620 RCV000861633 RCV001697874 RCV002331052

NM_001378454.1(ALMS1):c.861C>T (p.Asp287=)

SNV
Germline

Chr2:73424526

Conflicting classifications of pathogenicity

Alstrom syndrome
not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1713001

rs_377281121

6 SubmittersRCV000634818 RCV000735884 RCV001571784 RCV002377375

NM_001378454.1(ALMS1):c.2152C>T (p.His718Tyr)

SNV
Germline

Chr2:73448679

Conflicting classifications of pathogenicity

Alstrom syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1713290

rs_199572177

6 SubmittersRCV000634775 RCV002254938 RCV002431879

NM_001378454.1(ALMS1):c.4976C>A (p.Pro1659Gln)

SNV
Germline

Chr2:73451503

Conflicting classifications of pathogenicity

Alstrom syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1713804

rs_199520788

3 SubmittersRCV000634801 RCV001574746 RCV002334076

NM_001378454.1(ALMS1):c.8005C>T (p.Arg2669Ter)

SNV
Germline

Chr2:73489964

Pathogenic

Alstrom syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA347266861

rs_549857076

4 SubmittersRCV000634797 RCV000734688

NM_001378454.1(ALMS1):c.12363-6T>G

SNV
Germline

Chr2:73608469

Conflicting classifications of pathogenicity

Alstrom syndrome

Criteria Provided
Conflicting Classifications

CA658795821

rs_1553422641

2 SubmittersRCV000634789

NM_001378454.1(ALMS1):c.1174C>A (p.Arg392Ser)

SNV
Germline

Chr2:73424839

Conflicting classifications of pathogenicity

Alstrom syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1713060

rs_3813227

3 SubmittersRCV000634790 RCV001584463 RCV002331134

NM_001378454.1(ALMS1):c.3412A>G (p.Thr1138Ala)

SNV
Germline

Chr2:73449939

Conflicting classifications of pathogenicity

Alstrom syndrome
Condition: not provided
Cardiovascular phenotype
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1713521

rs_201884768

7 SubmittersRCV000634786 RCV002264966 RCV002458020 RCV004817836

NM_001378454.1(ALMS1):c.3812C>A (p.Pro1271Gln)

SNV
Germline

Chr2:73450339

Conflicting classifications of pathogenicity

Alstrom syndrome
Monogenic diabetes
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1713596

rs_372563916

5 SubmittersRCV000634774 RCV001172517 RCV001557628 RCV002360539

NM_001378454.1(ALMS1):c.4390C>T (p.Gln1464Ter)

SNV
Germline

Chr2:73450917

Pathogenic/Likely pathogenic

Alstrom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA347278440

rs_904289501

2 SubmittersRCV000634809

NM_001378454.1(ALMS1):c.451-5T>G

SNV
Germline

Chr2:73419118

Conflicting classifications of pathogenicity

Alstrom syndrome
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1712861

rs_774098604

5 SubmittersRCV000634822 RCV001193872 RCV002334077

NM_001378454.1(ALMS1):c.3464A>C (p.His1155Pro)

SNV
Germline

Chr2:73449991

Conflicting classifications of pathogenicity

Alstrom syndrome
Monogenic diabetes
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1713530

rs_553406974

6 SubmittersRCV000634785 RCV001172516 RCV002460098 RCV004723005

NM_001378454.1(ALMS1):c.5197C>T (p.Gln1733Ter)

SNV
Germline

Chr2:73451724

Pathogenic/Likely pathogenic

Alstrom syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA347280343

rs_750136202

2 SubmittersRCV000634810 RCV000760588

NM_001378454.1(ALMS1):c.6506C>T (p.Ser2169Leu)

SNV
Germline

Chr2:73453033

Conflicting classifications of pathogenicity

Alstrom syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1714074

rs_368833782

5 SubmittersRCV000634793 RCV003156269 RCV004992426

NM_001378454.1(ALMS1):c.7983A>T (p.Glu2661Asp)

SNV
Germline

Chr2:73489942

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA347266739

rs_1213279792

5 SubmittersRCV000634806 RCV002420703

NM_001378454.1(ALMS1):c.7674+1G>A

SNV
Germline

Chr2:73455296

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_1417025395

1 SubmittersRCV000656410

NM_001378454.1(ALMS1):c.11784G>A (p.Trp3928Ter)

SNV
Germline

Chr2:73600793

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_1318520999

1 SubmittersRCV000656411

NM_001378454.1(ALMS1):c.283C>T (p.Gln95Ter)

SNV
Germline

Chr2:73386151

Pathogenic/Likely pathogenic

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_750326619

4 SubmittersRCV000672767 RCV003163069

NM_001378454.1(ALMS1):c.427C>T (p.Gln143Ter)

SNV
Germline

Chr2:73408724

Conflicting classifications of pathogenicity

Alstrom syndrome
ALMS1-related disorder
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_150825781

5 SubmittersRCV000665980 RCV003938018 RCV004629284

NM_001378454.1(ALMS1):c.601C>G (p.Gln201Glu)

SNV
Germline

Chr2:73419273

Conflicting classifications of pathogenicity

Alstrom syndrome
Condition: not provided
Monogenic diabetes
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_376989302

9 SubmittersRCV000666004 RCV001572852 RCV001172507 RCV002352087

NM_001378454.1(ALMS1):c.709G>T (p.Glu237Ter)

SNV
Germline

Chr2:73422919

Pathogenic/Likely pathogenic

Alstrom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_989080548

5 SubmittersRCV000671658

NM_001378454.1(ALMS1):c.780G>A (p.Lys260=)

SNV
Germline

Chr2:73424445

Conflicting classifications of pathogenicity

Alstrom syndrome

Criteria Provided
Conflicting Classifications

rs_1553400683

2 SubmittersRCV000665222

NM_001378454.1(ALMS1):c.10G>T (p.Glu4Ter)

SNV
Unknown

Chr2:73385878

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_1553396092

1 SubmittersRCV000670265

NM_001378454.1(ALMS1):c.1339-12G>T

SNV
Germline

Chr2:73432186

Conflicting classifications of pathogenicity

Alstrom syndrome

Criteria Provided
Conflicting Classifications

rs_1260375872

2 SubmittersRCV000671542

NM_001378454.1(ALMS1):c.1339-8C>T

SNV
Germline

Chr2:73432190

Conflicting classifications of pathogenicity

Alstrom syndrome

Criteria Provided
Conflicting Classifications

rs_1553401596

2 SubmittersRCV000668725

NM_001378454.1(ALMS1):c.161T>A (p.Leu54Ter)

SNV
Germline

Chr2:73386029

Pathogenic/Likely pathogenic

Alstrom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_755760721

2 SubmittersRCV000671016

NM_001378454.1(ALMS1):c.1432+4C>T

SNV
Germline

Chr2:73432295

Conflicting classifications of pathogenicity

Alstrom syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_200933935

5 SubmittersRCV000666778 RCV001546882 RCV002388174

NM_001378454.1(ALMS1):c.325-6T>C

SNV
Germline

Chr2:73408616

Conflicting classifications of pathogenicity

Alstrom syndrome

Criteria Provided
Conflicting Classifications

rs_760582213

2 SubmittersRCV000668196

NM_001378454.1(ALMS1):c.325-1G>A

SNV
Germline

Chr2:73408621

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_764337753

3 SubmittersRCV000674281 RCV002442400

NM_001378454.1(ALMS1):c.765-6T>A

SNV
Germline

Chr2:73424424

Conflicting classifications of pathogenicity

Alstrom syndrome

Criteria Provided
Conflicting Classifications

rs_755762723

2 SubmittersRCV000666259

NM_001378454.1(ALMS1):c.57G>A (p.Glu19=)

SNV
Germline

Chr2:73385925

Conflicting classifications of pathogenicity

Alstrom syndrome

Criteria Provided
Conflicting Classifications

rs_866503570

2 SubmittersRCV000665133

NM_001378454.1(ALMS1):c.3395A>G (p.Gln1132Arg)

SNV
Germline

Chr2:73449922

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

rs_202114540

5 SubmittersRCV000664599 RCV002458180 RCV003488786

NM_001378454.1(ALMS1):c.207C>T (p.Asp69=)

SNV
Germline

Chr2:73386075

Conflicting classifications of pathogenicity

Alstrom syndrome
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_752874408

4 SubmittersRCV000667578 RCV000735877 RCV002422452

NM_001378454.1(ALMS1):c.4249C>T (p.Arg1417Trp)

SNV
Germline

Chr2:73450776

Conflicting classifications of pathogenicity

Alstrom syndrome
Condition: not provided
Cardiovascular phenotype
not specified
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_199615803

10 SubmittersRCV000664923 RCV001558843 RCV002331299 RCV003323666 RCV004817864

NM_001378454.1(ALMS1):c.4267A>T (p.Thr1423Ser)

SNV
Germline

Chr2:73450794

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_746145270

5 SubmittersRCV000665220 RCV004026082 RCV004768519

NM_001378454.1(ALMS1):c.296C>A (p.Ser99Ter)

SNV
Unknown

Chr2:73386164

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_1553396296

1 SubmittersRCV000672713

NM_001378454.1(ALMS1):c.1432+1G>T

SNV
Germline

Chr2:73432292

Likely pathogenic

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553401634

2 SubmittersRCV000672541 RCV002388181

NM_001378454.1(ALMS1):c.2103A>C (p.Pro701=)

SNV
Germline

Chr2:73448630

Conflicting classifications of pathogenicity

Alstrom syndrome
not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_750362630

6 SubmittersRCV000665364 RCV001195320 RCV001731859 RCV002422449

NM_001378454.1(ALMS1):c.6433C>A (p.Arg2145=)

SNV
Germline

Chr2:73452960

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_770558150

3 SubmittersRCV000665176 RCV002360691

NM_001378454.1(ALMS1):c.6496C>G (p.Leu2166Val)

SNV
Germline

Chr2:73453023

Conflicting classifications of pathogenicity

Alstrom syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1200119538

4 SubmittersRCV000671071 RCV003319394 RCV004993929

NM_001378454.1(ALMS1):c.6797T>A (p.Leu2266Ter)

SNV
Germline

Chr2:73453324

Pathogenic/Likely pathogenic

Alstrom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_761071372

2 SubmittersRCV000670616

NM_001378454.1(ALMS1):c.2T>G (p.Met1Arg)

SNV
Unknown

Chr2:73385870

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_1553396091

1 SubmittersRCV000666768

NM_001378454.1(ALMS1):c.2413A>G (p.Thr805Ala)

SNV
Germline

Chr2:73448940

Conflicting classifications of pathogenicity

Alstrom syndrome
not specified
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_772260271

6 SubmittersRCV000665170 RCV000735886 RCV002442390 RCV003317327

NM_001378454.1(ALMS1):c.1237+9C>G

SNV
Germline

Chr2:73424911

Conflicting classifications of pathogenicity

Alstrom syndrome
not specified

Criteria Provided
Conflicting Classifications

rs_201471551

3 SubmittersRCV000669482 RCV001175435

NM_001378454.1(ALMS1):c.1238-20A>G

SNV
Germline

Chr2:73426433

Conflicting classifications of pathogenicity

Alstrom syndrome

Criteria Provided
Conflicting Classifications

rs_771811655

2 SubmittersRCV000664699

NM_001378454.1(ALMS1):c.2420C>G (p.Pro807Arg)

SNV
Germline

Chr2:73448947

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_372717861

4 SubmittersRCV000666429 RCV002458181

NM_001378454.1(ALMS1):c.325-8A>C

SNV
Germline

Chr2:73408614

Conflicting classifications of pathogenicity

Alstrom syndrome

Criteria Provided
Conflicting Classifications

rs_200740825

2 SubmittersRCV000670279

NM_001378454.1(ALMS1):c.355C>T (p.Gln119Ter)

SNV
Germline

Chr2:73408652

Pathogenic/Likely pathogenic

Alstrom syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_751804613

6 SubmittersRCV000665317 RCV002460103 RCV003117464

NM_001378454.1(ALMS1):c.2128A>G (p.Thr710Ala)

SNV
Germline

Chr2:73448655

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_367641723

5 SubmittersRCV000668922 RCV004026105

NM_001378454.1(ALMS1):c.2309C>T (p.Pro770Leu)

SNV
Germline

Chr2:73448836

Conflicting classifications of pathogenicity

Alstrom syndrome
Condition: not provided
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_187132771

6 SubmittersRCV000669480 RCV001564982 RCV001175437 RCV002442398

NM_001378454.1(ALMS1):c.647-4A>G

SNV
Germline

Chr2:73422853

Conflicting classifications of pathogenicity

Alstrom syndrome

Criteria Provided
Conflicting Classifications

rs_1553400427

2 SubmittersRCV000669516

NM_001378454.1(ALMS1):c.3278C>T (p.Pro1093Leu)

SNV
Germline

Chr2:73449805

Conflicting classifications of pathogenicity

Alstrom syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_766187468

5 SubmittersRCV000664943 RCV002510950 RCV002442389

NM_001378454.1(ALMS1):c.717G>A (p.Ala239=)

SNV
Germline

Chr2:73422927

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_373972884

4 SubmittersRCV000666125 RCV004629285

NM_001378454.1(ALMS1):c.765-12A>G

SNV
Germline

Chr2:73424418

Conflicting classifications of pathogenicity

Alstrom syndrome

Criteria Provided
Conflicting Classifications

rs_200209691

2 SubmittersRCV000670044

NM_001378454.1(ALMS1):c.7912T>A (p.Ser2638Thr)

SNV
Germline

Chr2:73489871

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_548882067

3 SubmittersRCV000664836 RCV004629283

NM_001378454.1(ALMS1):c.8195T>C (p.Val2732Ala)

SNV
Germline

Chr2:73490154

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_200859630

3 SubmittersRCV000666505 RCV004993924

NM_001378454.1(ALMS1):c.4483C>G (p.Leu1495Val)

SNV
Germline

Chr2:73451010

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_373213201

4 SubmittersRCV000669193 RCV002331308

NM_001378454.1(ALMS1):c.1339-5A>G

SNV
Germline

Chr2:73432193

Conflicting classifications of pathogenicity

Alstrom syndrome

Criteria Provided
Conflicting Classifications

rs_373469023

2 SubmittersRCV000669277

NM_001378454.1(ALMS1):c.5758G>A (p.Val1920Ile)

SNV
Germline

Chr2:73452285

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_373489525

2 SubmittersRCV000666114 RCV004026090

NM_001378454.1(ALMS1):c.5828G>T (p.Arg1943Leu)

SNV
Germline

Chr2:73452355

Conflicting classifications of pathogenicity

Alstrom syndrome
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

rs_146669152

5 SubmittersRCV000668361 RCV001569834 RCV002352092 RCV001175496

NM_001378454.1(ALMS1):c.5417A>G (p.Tyr1806Cys)

SNV
Germline

Chr2:73451944

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype
ALMS1-related disorder

Criteria Provided
Conflicting Classifications

rs_374046216

4 SubmittersRCV000665260 RCV002343414 RCV004740396

NM_001378454.1(ALMS1):c.9673C>T (p.Arg3225Cys)

SNV
Germline

Chr2:73519908

Conflicting classifications of pathogenicity

Alstrom syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_200215551

4 SubmittersRCV000670054 RCV004820087 RCV002369805

NM_001378454.1(ALMS1):c.2521T>C (p.Ser841Pro)

SNV
Germline

Chr2:73449048

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_949198387

4 SubmittersRCV000667978 RCV004026098

NM_001378454.1(ALMS1):c.9753A>G (p.Gln3251=)

SNV
Germline

Chr2:73519988

Conflicting classifications of pathogenicity

Alstrom syndrome

Criteria Provided
Conflicting Classifications

rs_1553412793

2 SubmittersRCV000664723

NM_001378454.1(ALMS1):c.5532C>T (p.Asn1844=)

SNV
Germline

Chr2:73452059

Conflicting classifications of pathogenicity

Alstrom syndrome

Criteria Provided
Conflicting Classifications

rs_369656698

2 SubmittersRCV000672358

NM_001378454.1(ALMS1):c.6926C>T (p.Thr2309Met)

SNV
Germline

Chr2:73453453

Conflicting classifications of pathogenicity

Alstrom syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_147001219

6 SubmittersRCV000668078 RCV003424270 RCV002369801

NM_001378454.1(ALMS1):c.9782-13T>G

SNV
Germline

Chr2:73534811

Conflicting classifications of pathogenicity

Alstrom syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_530508947

3 SubmittersRCV000673718 RCV004760693

NM_001378454.1(ALMS1):c.9782-6C>T

SNV
Germline

Chr2:73534818

Conflicting classifications of pathogenicity

Alstrom syndrome

Criteria Provided
Conflicting Classifications

rs_1414733616

2 SubmittersRCV000669400

NM_001378454.1(ALMS1):c.7541-6C>T

SNV
Germline

Chr2:73455156

Conflicting classifications of pathogenicity

Alstrom syndrome
not specified

Criteria Provided
Conflicting Classifications

rs_1408073039

3 SubmittersRCV000672158 RCV001193271

NM_001378454.1(ALMS1):c.3268C>G (p.Pro1090Ala)

SNV
Germline

Chr2:73449795

Conflicting classifications of pathogenicity

Alstrom syndrome
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_376232524

4 SubmittersRCV000670873 RCV001824862 RCV004026117

NM_001378454.1(ALMS1):c.4250G>A (p.Arg1417Gln)

SNV
Germline

Chr2:73450777

Conflicting classifications of pathogenicity

Alstrom syndrome
Monogenic diabetes

Criteria Provided
Conflicting Classifications

rs_771362238

4 SubmittersRCV000665354 RCV001172519

NM_001378454.1(ALMS1):c.10079-19A>G

SNV
Germline

Chr2:73557201

Conflicting classifications of pathogenicity

Alstrom syndrome

Criteria Provided
Conflicting Classifications

rs_935864365

2 SubmittersRCV000671375

NM_001378454.1(ALMS1):c.10079-11C>A

SNV
Germline

Chr2:73557209

Conflicting classifications of pathogenicity

Alstrom syndrome

Criteria Provided
Conflicting Classifications

rs_368250605

2 SubmittersRCV000674179

NM_001378454.1(ALMS1):c.10079-4C>G

SNV
Germline

Chr2:73557216

Conflicting classifications of pathogenicity

Alstrom syndrome

Criteria Provided
Conflicting Classifications

rs_1446726516

2 SubmittersRCV000669041

NM_001378454.1(ALMS1):c.6076A>G (p.Lys2026Glu)

SNV
Germline

Chr2:73452603

Conflicting classifications of pathogenicity

Alstrom syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_191286546

7 SubmittersRCV000666488 RCV004597854 RCV004026092

NM_001378454.1(ALMS1):c.10461C>T (p.Pro3487=)

SNV
Germline

Chr2:73572338

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_202036843

3 SubmittersRCV000670439 RCV002397353

NM_001378454.1(ALMS1):c.9538C>G (p.Arg3180Gly)

SNV
Germline

Chr2:73491497

Conflicting classifications of pathogenicity

Alstrom syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_563393715

6 SubmittersRCV000665028 RCV001706700 RCV002386141

NM_001378454.1(ALMS1):c.9908-15C>G

SNV
Germline

Chr2:73550252

Conflicting classifications of pathogenicity

Alstrom syndrome

Criteria Provided
Conflicting Classifications

rs_1389556610

2 SubmittersRCV000669998

NM_001378454.1(ALMS1):c.11548-3T>C

SNV
Germline

Chr2:73599398

Conflicting classifications of pathogenicity

Alstrom syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_555547573

5 SubmittersRCV000665410 RCV000827508 RCV002360692

NM_001378454.1(ALMS1):c.10079-10G>A

SNV
Germline

Chr2:73557210

Conflicting classifications of pathogenicity

Alstrom syndrome

Criteria Provided
Conflicting Classifications

rs_778996015

2 SubmittersRCV000669814

NM_001378454.1(ALMS1):c.10079-1G>C

SNV
Germline

Chr2:73557219

Likely pathogenic

Alstrom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1361885101

3 SubmittersRCV000673290

NM_001378454.1(ALMS1):c.7541-4C>G

SNV
Germline

Chr2:73455158

Conflicting classifications of pathogenicity

Alstrom syndrome

Criteria Provided
Conflicting Classifications

rs_1380143996

2 SubmittersRCV000674294

NM_001378454.1(ALMS1):c.11669-1G>A

SNV
Germline

Chr2:73600677

Pathogenic/Likely pathogenic

Alstrom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_750737346

3 SubmittersRCV000668098

NM_001378454.1(ALMS1):c.7675-2A>G

SNV
Germline

Chr2:73489632

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_748477695

2 SubmittersRCV000673225 RCV004026128

NM_001378454.1(ALMS1):c.10368A>G (p.Leu3456=)

SNV
Germline

Chr2:73559126

Conflicting classifications of pathogenicity

Alstrom syndrome

Criteria Provided
Conflicting Classifications

rs_929142880

2 SubmittersRCV000665048

NM_001378454.1(ALMS1):c.9539G>A (p.Arg3180Gln)

SNV
Germline

Chr2:73491498

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_772197358

3 SubmittersRCV000669301 RCV004993926 RCV004800523

NM_001378454.1(ALMS1):c.10384+1G>A

SNV
Germline

Chr2:73559143

Likely pathogenic

Alstrom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_766366221

3 SubmittersRCV000673328

NM_001378454.1(ALMS1):c.9539+1G>T

SNV
Unknown

Chr2:73491499

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_1553409901

1 SubmittersRCV000668030

NM_001378454.1(ALMS1):c.11872+2T>A

SNV
Germline

Chr2:73600883

Likely pathogenic

Alstrom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553421657

2 SubmittersRCV000670386

NM_001378454.1(ALMS1):c.9669A>C (p.Glu3223Asp)

SNV
Germline

Chr2:73519904

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_376206840

3 SubmittersRCV000670437 RCV002369806

NM_001378454.1(ALMS1):c.11873-11G>A

SNV
Germline

Chr2:73601184

Conflicting classifications of pathogenicity

Alstrom syndrome

Criteria Provided
Conflicting Classifications

rs_571456553

2 SubmittersRCV000665164

NM_001378454.1(ALMS1):c.10546C>T (p.Gln3516Ter)

SNV
Germline

Chr2:73572423

Pathogenic/Likely pathogenic

Alstrom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_375019820

3 SubmittersRCV000666520

NM_001378454.1(ALMS1):c.10213+1G>A

SNV
Germline

Chr2:73557355

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_374681570

4 SubmittersRCV000674944 RCV003380671

NM_001378454.1(ALMS1):c.12150C>A (p.Ser4050=)

SNV
Germline

Chr2:73602220

Conflicting classifications of pathogenicity

Alstrom syndrome

Criteria Provided
Conflicting Classifications

rs_1553421877

2 SubmittersRCV000664506

NM_001378454.1(ALMS1):c.10214-5C>T

SNV
Germline

Chr2:73558967

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_751591632

3 SubmittersRCV000668904 RCV004026104

NM_001378454.1(ALMS1):c.9321A>G (p.Val3107=)

SNV
Germline

Chr2:73491280

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_371108940

4 SubmittersRCV000664712 RCV002369790 RCV003128684

NM_001378454.1(ALMS1):c.10224T>C (p.Ala3408=)

SNV
Germline

Chr2:73558982

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1464934308

4 SubmittersRCV000665145 RCV002406504

NM_001378454.1(ALMS1):c.12463-10T>C

SNV
Germline

Chr2:73609558

Conflicting classifications of pathogenicity

Alstrom syndrome

Criteria Provided
Conflicting Classifications

rs_754172101

2 SubmittersRCV000669586

NM_001378454.1(ALMS1):c.10651A>G (p.Asn3551Asp)

SNV
Germline

Chr2:73572528

Conflicting classifications of pathogenicity

Alstrom syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_200992340

5 SubmittersRCV000669927 RCV001662737 RCV002406513

NM_001378454.1(ALMS1):c.10385-9C>T

SNV
Germline

Chr2:73572253

Conflicting classifications of pathogenicity

Alstrom syndrome

Criteria Provided
Conflicting Classifications

rs_568809052

2 SubmittersRCV000673802

NM_001378454.1(ALMS1):c.10385-7T>G

SNV
Germline

Chr2:73572255

Conflicting classifications of pathogenicity

Alstrom syndrome

Criteria Provided
Conflicting Classifications

rs_1298945759

2 SubmittersRCV000668421

NM_001378454.1(ALMS1):c.9782-8C>T

SNV
Germline

Chr2:73534816

Conflicting classifications of pathogenicity

Alstrom syndrome

Criteria Provided
Conflicting Classifications

rs_1553414061

2 SubmittersRCV000671842

NM_001378454.1(ALMS1):c.9908-13C>G

SNV
Germline

Chr2:73550254

Conflicting classifications of pathogenicity

Alstrom syndrome

Criteria Provided
Conflicting Classifications

rs_373325114

2 SubmittersRCV000667157

NM_001378454.1(ALMS1):c.9908-13C>T

SNV
Germline

Chr2:73550254

Conflicting classifications of pathogenicity

Alstrom syndrome
not specified

Criteria Provided
Conflicting Classifications

rs_373325114

3 SubmittersRCV000665478 RCV001553714

NM_001378454.1(ALMS1):c.10467C>T (p.His3489=)

SNV
Germline

Chr2:73572344

Conflicting classifications of pathogenicity

Alstrom syndrome

Criteria Provided
Conflicting Classifications

rs_371631738

2 SubmittersRCV000665001

NM_001378454.1(ALMS1):c.11511A>G (p.Leu3837=)

SNV
Germline

Chr2:73573388

Conflicting classifications of pathogenicity

Alstrom syndrome

Criteria Provided
Conflicting Classifications

rs_374164508

2 SubmittersRCV000674117

NM_001378454.1(ALMS1):c.11547+1G>A

SNV
Unknown

Chr2:73573425

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_1553418638

1 SubmittersRCV000672617

NM_001378454.1(ALMS1):c.11626A>G (p.Asn3876Asp)

SNV
Germline

Chr2:73599479

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_377130177

6 SubmittersRCV000665728 RCV002352085 RCV003148821

NM_001378454.1(ALMS1):c.11668+17A>G

SNV
Germline

Chr2:73599538

Conflicting classifications of pathogenicity

Alstrom syndrome

Criteria Provided
Conflicting Classifications

rs_201109126

2 SubmittersRCV000665685

NM_001378454.1(ALMS1):c.10731T>C (p.Ile3577=)

SNV
Germline

Chr2:73572608

Conflicting classifications of pathogenicity

Alstrom syndrome

Criteria Provided
Conflicting Classifications

rs_1553418487

2 SubmittersRCV000664722

NM_001378454.1(ALMS1):c.11669-14A>G

SNV
Germline

Chr2:73600664

Conflicting classifications of pathogenicity

Alstrom syndrome

Criteria Provided
Conflicting Classifications

rs_768036112

2 SubmittersRCV000665510

NM_001378454.1(ALMS1):c.11669-12C>T

SNV
Germline

Chr2:73600666

Conflicting classifications of pathogenicity

Alstrom syndrome

Criteria Provided
Conflicting Classifications

rs_774970704

2 SubmittersRCV000666907

NM_001378454.1(ALMS1):c.12114+1G>T

SNV
Unknown

Chr2:73601437

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_376719320

1 SubmittersRCV000671240

NM_001378454.1(ALMS1):c.12198G>A (p.Arg4066=)

SNV
Germline

Chr2:73602268

Conflicting classifications of pathogenicity

Alstrom syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_199603690

7 SubmittersRCV000664649 RCV001576145 RCV002360690

NM_001378454.1(ALMS1):c.12284C>T (p.Pro4095Leu)

SNV
Germline

Chr2:73602354

Conflicting classifications of pathogenicity

Alstrom syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_750502331

5 SubmittersRCV000668351 RCV001584539 RCV002360697

NM_001378454.1(ALMS1):c.12299-6G>A

SNV
Germline

Chr2:73603235

Conflicting classifications of pathogenicity

Alstrom syndrome

Criteria Provided
Conflicting Classifications

rs_771317399

2 SubmittersRCV000673246

NM_001378454.1(ALMS1):c.12299-15T>C

SNV
Germline

Chr2:73603226

Conflicting classifications of pathogenicity

Alstrom syndrome

Criteria Provided
Conflicting Classifications

rs_1553422033

2 SubmittersRCV000669229

NM_001378454.1(ALMS1):c.12299-14C>T

SNV
Germline

Chr2:73603227

Conflicting classifications of pathogenicity

Alstrom syndrome

Criteria Provided
Conflicting Classifications

rs_1352077204

2 SubmittersRCV000671774

NM_001378454.1(ALMS1):c.11873-11G>T

SNV
Germline

Chr2:73601184

Conflicting classifications of pathogenicity

Alstrom syndrome
not specified

Criteria Provided
Conflicting Classifications

rs_571456553

3 SubmittersRCV000666973 RCV002282301

NM_001378454.1(ALMS1):c.12330C>G (p.Ile4110Met)

SNV
Germline

Chr2:73603272

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_375524122

4 SubmittersRCV000669766 RCV002360699

NM_001378454.1(ALMS1):c.12299-1G>A

SNV
Germline

Chr2:73603240

Likely pathogenic

Alstrom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1313101326

3 SubmittersRCV000667123

NM_001378454.1(ALMS1):c.11873-4G>A

SNV
Germline

Chr2:73601191

Conflicting classifications of pathogenicity

Alstrom syndrome

Criteria Provided
Conflicting Classifications

rs_1553421697

2 SubmittersRCV000674182

NM_001378454.1(ALMS1):c.12363-12G>A

SNV
Germline

Chr2:73608463

Conflicting classifications of pathogenicity

Alstrom syndrome

Criteria Provided
Conflicting Classifications

rs_749504196

3 SubmittersRCV000670795

NM_001378454.1(ALMS1):c.11897A>T (p.Glu3966Val)

SNV
Germline

Chr2:73601219

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_377523400

4 SubmittersRCV000665249 RCV002334232

NM_001378454.1(ALMS1):c.12442C>T (p.Arg4148Ter)

SNV
Germline

Chr2:73608554

Conflicting classifications of pathogenicity

Alstrom syndrome
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

rs_192496253

8 SubmittersRCV000668094 RCV001584538 RCV002388179 RCV004768529

NM_001378454.1(ALMS1):c.12463-9C>G

SNV
Germline

Chr2:73609559

Conflicting classifications of pathogenicity

Alstrom syndrome

Criteria Provided
Conflicting Classifications

rs_1553422761

2 SubmittersRCV000671015

NM_001378454.1(ALMS1):c.12463-14C>G

SNV
Germline

Chr2:73609554

Conflicting classifications of pathogenicity

Alstrom syndrome
not specified

Criteria Provided
Conflicting Classifications

rs_766656843

3 SubmittersRCV000665787 RCV001797775

NM_001378454.1(ALMS1):c.568C>A (p.Leu190Met)

SNV
Germline

Chr2:73419240

Conflicting classifications of pathogenicity

Alstrom syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_375838474

4 SubmittersRCV000691102 RCV001861907 RCV002343459

NM_001378454.1(ALMS1):c.9145A>G (p.Ile3049Val)

SNV
Germline

Chr2:73491104

Conflicting classifications of pathogenicity

Alstrom syndrome
not specified
Condition: not provided
Cardiovascular phenotype
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_202228570

12 SubmittersRCV000705169 RCV001195365 RCV001552380 RCV002369958 RCV004817945

NM_001378454.1(ALMS1):c.9325C>G (p.Gln3109Glu)

SNV
Germline

Chr2:73491284

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1558667813

3 SubmittersRCV000688214 RCV004993948

NM_001378454.1(ALMS1):c.9538C>T (p.Arg3180Ter)

SNV
Germline

Chr2:73491497

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_563393715

2 SubmittersRCV000707419

NM_001378454.1(ALMS1):c.11953A>G (p.Ile3985Val)

SNV
Germline

Chr2:73601275

Conflicting classifications of pathogenicity

Alstrom syndrome
not specified
Condition: not provided
Cardiovascular phenotype
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_201728850

11 SubmittersRCV000705168 RCV001195324 RCV001560085 RCV002334381 RCV004817944

NM_001378454.1(ALMS1):c.3002G>T (p.Gly1001Val)

SNV
Germline

Chr2:73449529

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype
Monogenic diabetes

Criteria Provided
Conflicting Classifications

rs_773630367

5 SubmittersRCV000691798 RCV004993956 RCV001172513

NM_001378454.1(ALMS1):c.30C>T (p.Gly10=)

SNV
Germline

Chr2:73385898

Conflicting classifications of pathogenicity

Alstrom syndrome

Criteria Provided
Conflicting Classifications

rs_1402244580

3 SubmittersRCV000690375

NM_001378454.1(ALMS1):c.1886G>A (p.Gly629Asp)

SNV
Germline

Chr2:73448413

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_531859344

6 SubmittersRCV000697141 RCV002406602 RCV003442039

NM_001378454.1(ALMS1):c.4795A>G (p.Ile1599Val)

SNV
Germline

Chr2:73451322

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_377671796

5 SubmittersRCV000685205 RCV002334248 RCV002466561

NM_001378454.1(ALMS1):c.280C>T (p.Pro94Ser)

SNV
Germline

Chr2:73386148

Conflicting classifications of pathogenicity

Condition: not provided
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_775431837

6 SubmittersRCV000730500 RCV001509577 RCV002440570

NM_001378454.1(ALMS1):c.4843T>G (p.Leu1615Val)

SNV
Germline

Chr2:73451370

Conflicting classifications of pathogenicity

Condition: not provided
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_375736124

3 SubmittersRCV000732117 RCV002536475 RCV004027027

NM_001378454.1(ALMS1):c.11463G>A (p.Glu3821=)

SNV
Germline

Chr2:73573340

Conflicting classifications of pathogenicity

not specified
Alstrom syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_750087396

6 SubmittersRCV000825705 RCV001085207 RCV000732160 RCV002334413

NM_001378454.1(ALMS1):c.6211A>G (p.Ile2071Val)

SNV
Germline

Chr2:73452738

Conflicting classifications of pathogenicity

Condition: not provided
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1020163869

3 SubmittersRCV000734522 RCV002535381 RCV004027086

NM_001378454.1(ALMS1):c.2136C>T (p.Leu712=)

SNV
Germline

Chr2:73448663

Conflicting classifications of pathogenicity

not specified
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_747504060

3 SubmittersRCV000735885 RCV001454996 RCV002424750

NM_001378454.1(ALMS1):c.5918C>A (p.Pro1973Gln)

SNV
Germline

Chr2:73452445

Conflicting classifications of pathogenicity

not specified
Monogenic diabetes
Condition: not provided
Cardiovascular phenotype
Alstrom syndrome

Criteria Provided
Conflicting Classifications

rs_199615641

7 SubmittersRCV000735881 RCV001172524 RCV001796202 RCV002352257 RCV002535438

NM_001378454.1(ALMS1):c.9075A>G (p.Pro3025=)

SNV
Germline

Chr2:73491034

Conflicting classifications of pathogenicity

not specified
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1278648561

3 SubmittersRCV000735890 RCV002061025 RCV002442562

NM_001378454.1(ALMS1):c.12076A>G (p.Arg4026Gly)

SNV
Germline

Chr2:73601398

Conflicting classifications of pathogenicity

not specified
Monogenic diabetes
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_754439156

6 SubmittersRCV000735892 RCV001172502 RCV001830648 RCV002343607

NM_001378454.1(ALMS1):c.12285G>T (p.Pro4095=)

SNV
Germline

Chr2:73602355

Conflicting classifications of pathogenicity

Alstrom syndrome
not specified

Criteria Provided
Conflicting Classifications

rs_776912137

2 SubmittersRCV001395431 RCV000735893

NM_001378454.1(ALMS1):c.11446C>T (p.Gln3816Ter)

SNV
Germline

Chr2:73573323

Pathogenic

Condition: not provided
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_940576720

4 SubmittersRCV000760859 RCV001061071 RCV002458368

NM_001378454.1(ALMS1):c.4743C>G (p.Tyr1581Ter)

SNV
Germline

Chr2:73451270

Pathogenic/Likely pathogenic

Alstrom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1572935708

2 SubmittersRCV000791278

NM_001378454.1(ALMS1):c.298G>T (p.Glu100Ter)

SNV
Germline

Chr2:73386166

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_1254495717

1 SubmittersRCV000818487

NM_001378454.1(ALMS1):c.3867T>G (p.Tyr1289Ter)

SNV
Germline

Chr2:73450394

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_369314182

1 SubmittersRCV000802935

NM_001378454.1(ALMS1):c.4543G>A (p.Ala1515Thr)

SNV
Germline

Chr2:73451070

Conflicting classifications of pathogenicity

Alstrom syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_183839621

3 SubmittersRCV000797512 RCV001547204 RCV002334493

NM_001378454.1(ALMS1):c.5444C>T (p.Ser1815Phe)

SNV
Germline

Chr2:73451971

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_528863432

4 SubmittersRCV000802946 RCV002345794

NM_001378454.1(ALMS1):c.5903C>G (p.Ser1968Ter)

SNV
Germline

Chr2:73452430

Pathogenic

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_1490127694

4 SubmittersRCV000820227 RCV004629350

NM_001378454.1(ALMS1):c.6183G>C (p.Gln2061His)

SNV
Germline

Chr2:73452710

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_200041852

3 SubmittersRCV000810558 RCV002352407

NM_001378454.1(ALMS1):c.8763C>A (p.Cys2921Ter)

SNV
Germline

Chr2:73490722

Pathogenic/Likely pathogenic

Alstrom syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_765908556

2 SubmittersRCV000816606 RCV003223681

NM_001378454.1(ALMS1):c.646+2T>C

SNV
Germline

Chr2:73419320

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_1572911143

1 SubmittersRCV000817160

NM_001378454.1(ALMS1):c.4394C>T (p.Thr1465Met)

SNV
Germline

Chr2:73450921

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_200980776

4 SubmittersRCV000825866 RCV001785732 RCV001869271 RCV002332727

NM_001378454.1(ALMS1):c.8898T>A (p.Leu2966=)

SNV
Germline

Chr2:73490857

Conflicting classifications of pathogenicity

not specified
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1572970207

3 SubmittersRCV000825278 RCV003502552 RCV004994059

NM_001378454.1(ALMS1):c.11070C>T (p.Gly3690=)

SNV
Germline

Chr2:73572947

Conflicting classifications of pathogenicity

Alstrom syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_371329585

6 SubmittersRCV000862761 RCV001731954 RCV002434068

NM_001378454.1(ALMS1):c.2122A>G (p.Thr708Ala)

SNV
Germline

Chr2:73448649

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype
ALMS1-related disorder

Criteria Provided
Conflicting Classifications

rs_571389435

4 SubmittersRCV000868492 RCV002416028 RCV003411851

NM_001378454.1(ALMS1):c.5447A>G (p.Tyr1816Cys)

SNV
Germline

Chr2:73451974

Conflicting classifications of pathogenicity

Alstrom syndrome
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_780110659

3 SubmittersRCV001406809 RCV001824898 RCV004027656

NM_001378454.1(ALMS1):c.8918C>T (p.Ala2973Val)

SNV
Germline

Chr2:73490877

Conflicting classifications of pathogenicity

Alstrom syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_202110907

4 SubmittersRCV000866724 RCV001549857 RCV002372430

NM_001378454.1(ALMS1):c.11867A>G (p.His3956Arg)

SNV
Germline

Chr2:73600876

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_553786370

4 SubmittersRCV000867592 RCV003380761 RCV004822252

NM_001378454.1(ALMS1):c.10020G>A (p.Arg3340=)

SNV
Germline

Chr2:73550379

Conflicting classifications of pathogenicity

Condition: not provided
Alstrom syndrome
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

rs_746166271

5 SubmittersRCV000930443 RCV001424349 RCV002382106 RCV001818899

NM_001378454.1(ALMS1):c.1727C>G (p.Ser576Ter)

SNV
Germline

Chr2:73448254

Pathogenic

Alstrom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_756389027

2 SubmittersRCV000986772

NM_001378454.1(ALMS1):c.2326C>T (p.Gln776Ter)

SNV
Germline

Chr2:73448853

Pathogenic/Likely pathogenic

Alstrom syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_758195453

6 SubmittersRCV000986773 RCV002509585 RCV002445145

NM_001378454.1(ALMS1):c.9191T>G (p.Leu3064Ter)

SNV
Unknown

Chr2:73491150

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_1434010689

1 SubmittersRCV000986775

NM_001378454.1(ALMS1):c.1208C>G (p.Ser403Ter)

SNV
Germline

Chr2:73424873

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_1248541208

1 SubmittersRCV001095370

NM_001378454.1(ALMS1):c.1625T>A (p.Leu542Ter)

SNV
Germline

Chr2:73448152

Pathogenic/Likely pathogenic

Condition: not provided
Alstrom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1347176614

4 SubmittersRCV000997165 RCV001858855

NM_001378454.1(ALMS1):c.5297A>G (p.Asn1766Ser)

SNV
Germline

Chr2:73451824

Conflicting classifications of pathogenicity

Condition: not provided
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_192863498

5 SubmittersRCV000997166 RCV001247402 RCV002346204

NM_001378454.1(ALMS1):c.805C>T (p.Arg269Ter)

SNV
Germline

Chr2:73424470

Pathogenic

Alstrom syndrome
Cone-rod dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1426009756

5 SubmittersRCV001389287 RCV002267747 RCV004721697

NM_001378454.1(ALMS1):c.5240A>T (p.Gln1747Leu)

SNV
Germline

Chr2:73451767

Likely pathogenic

Alstrom syndrome

No Assertion Criteria Provided

rs_1572936360

1 SubmittersRCV001002868

NM_001378454.1(ALMS1):c.7132C>T (p.Leu2378Phe)

SNV
Germline

Chr2:73453659

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_768751472

1 SubmittersRCV001199642

NM_001378454.1(ALMS1):c.7786C>T (p.Gln2596Ter)

SNV
Germline

Chr2:73489745

Pathogenic

Alstrom syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1672934629

3 SubmittersRCV001199643 RCV001543586

NM_001378454.1(ALMS1):c.2617C>T (p.Gln873Ter)

SNV
Germline

Chr2:73449144

Pathogenic

Condition: not provided
Alstrom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1572932845

2 SubmittersRCV001008004 RCV001860585

NM_001378454.1(ALMS1):c.547G>T (p.Glu183Ter)

SNV
Germline

Chr2:73419219

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_1671239143

1 SubmittersRCV001039891

NM_001378454.1(ALMS1):c.589C>T (p.Gln197Ter)

SNV
Germline

Chr2:73419261

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_1671240457

1 SubmittersRCV001059830

NM_001378454.1(ALMS1):c.1834A>C (p.Thr612Pro)

SNV
Germline

Chr2:73448361

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_775286973

3 SubmittersRCV001060336 RCV002409479

NM_001378454.1(ALMS1):c.2087C>A (p.Ser696Ter)

SNV
Germline

Chr2:73448614

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_1490504758

2 SubmittersRCV001070227

NM_001378454.1(ALMS1):c.3011C>G (p.Ser1004Ter)

SNV
Germline

Chr2:73449538

Pathogenic

Alstrom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1359874667

2 SubmittersRCV001067735

NM_001378454.1(ALMS1):c.3051G>A (p.Trp1017Ter)

SNV
Germline

Chr2:73449578

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_1671883598

1 SubmittersRCV001056417

NM_001378454.1(ALMS1):c.3493C>T (p.Pro1165Ser)

SNV
Germline

Chr2:73450020

Conflicting classifications of pathogenicity

Alstrom syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_767103091

5 SubmittersRCV001047898 RCV001565552 RCV002451193

NM_001378454.1(ALMS1):c.4049A>G (p.His1350Arg)

SNV
Germline

Chr2:73450576

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Alstrom syndrome

Criteria Provided
Conflicting Classifications

rs_373366352

4 SubmittersRCV001559084 RCV002320242 RCV001038492

NM_001378454.1(ALMS1):c.6950T>C (p.Leu2317Pro)

SNV
Germline

Chr2:73453477

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_185469456

4 SubmittersRCV001042287 RCV002372773 RCV003318658

NM_001378454.1(ALMS1):c.7399G>T (p.Glu2467Ter)

SNV
Germline

Chr2:73453926

Pathogenic/Likely pathogenic

Alstrom syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_1198051503

4 SubmittersRCV001064588 RCV002307674 RCV002379588

NM_001378454.1(ALMS1):c.7433C>G (p.Ser2478Ter)

SNV
Germline

Chr2:73453960

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_1303829798

2 SubmittersRCV001053606

NM_001378454.1(ALMS1):c.9974C>G (p.Ser3325Ter)

SNV
Germline

Chr2:73550333

Pathogenic/Likely pathogenic

Alstrom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_754690894

2 SubmittersRCV001050007

NM_001378454.1(ALMS1):c.10241A>G (p.His3414Arg)

SNV
Germline

Chr2:73558999

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1674601435

2 SubmittersRCV001057013 RCV004629429

NM_001378454.1(ALMS1):c.12373C>T (p.Gln4125Ter)

SNV
Germline

Chr2:73608485

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_1174712970

1 SubmittersRCV001053482

NM_001378454.1(ALMS1):c.9782-1G>A

SNV
Germline

Chr2:73534823

Likely pathogenic

Alstrom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1673992163

3 SubmittersRCV001060831

NM_001378454.1(ALMS1):c.12115-2A>T

SNV
Germline

Chr2:73602183

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_1394193524

2 SubmittersRCV001051018

NM_001378454.1(ALMS1):c.11669-2A>G

SNV
Germline

Chr2:73600676

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_952110960

4 SubmittersRCV001036039 RCV004030968

NM_001378454.1(ALMS1):c.857C>G (p.Ser286Ter)

SNV
Germline

Chr2:73424522

Pathogenic/Likely pathogenic

Retinal dystrophy
Alstrom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1270472063

3 SubmittersRCV001075112 RCV001387181

NM_001378454.1(ALMS1):c.4934C>A (p.Ser1645Ter)

SNV
Germline

Chr2:73451461

Pathogenic

Retinal dystrophy
Alstrom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_774594040

2 SubmittersRCV001075532 RCV002554760

NM_001378454.1(ALMS1):c.5452C>T (p.Arg1818Ter)

SNV
Germline

Chr2:73451979

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_749339938

6 SubmittersRCV001075441 RCV001700694 RCV001862613 RCV003293870

NM_001378454.1(ALMS1):c.5538G>T (p.Leu1846=)

SNV
Germline

Chr2:73452065

Conflicting classifications of pathogenicity

Retinal dystrophy
Alstrom syndrome

Criteria Provided
Conflicting Classifications

rs_768057574

2 SubmittersRCV001074548 RCV003768998

NM_001378454.1(ALMS1):c.7531C>T (p.Arg2511Ter)

SNV
Germline

Chr2:73454058

Pathogenic

Retinal dystrophy
Alstrom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1315351235

2 SubmittersRCV001075165 RCV001217468

NM_001378454.1(ALMS1):c.10933C>T (p.Gln3645Ter)

SNV
Germline

Chr2:73572810

Pathogenic/Likely pathogenic

Retinal dystrophy
Alstrom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1674967197

3 SubmittersRCV001074590 RCV001387842

NM_001378454.1(ALMS1):c.11413C>T (p.Arg3805Ter)

SNV
Germline

Chr2:73573290

Pathogenic

Retinal dystrophy
Alstrom syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_376091780

5 SubmittersRCV001073417 RCV001222044 RCV004720757

NM_001378454.1(ALMS1):c.2755C>T (p.Gln919Ter)

SNV
Germline

Chr2:73449282

Pathogenic

Alstrom syndrome

No Assertion Criteria Provided

rs_1322100078

1 SubmittersRCV001257320

NM_001378454.1(ALMS1):c.5380C>T (p.Gln1794Ter)

SNV
Germline

Chr2:73451907

Pathogenic/Likely pathogenic

Condition: not provided
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_759024519

4 SubmittersRCV001091465 RCV002489732 RCV002348551

NM_001378454.1(ALMS1):c.6302C>A (p.Ser2101Ter)

SNV
Germline

Chr2:73452829

Pathogenic

Condition: not provided
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_28730854

9 SubmittersRCV001091888 RCV001230120 RCV002365792

NM_001378454.1(ALMS1):c.8117A>G (p.Glu2706Gly)

SNV
Germline

Chr2:73490076

Conflicting classifications of pathogenicity

Monogenic diabetes
Alstrom syndrome

Criteria Provided
Conflicting Classifications

rs_768090632

3 SubmittersRCV001172527 RCV001873595

NM_001378454.1(ALMS1):c.9779A>C (p.Asp3260Ala)

SNV
Germline

Chr2:73520014

Conflicting classifications of pathogenicity

Monogenic diabetes
Alstrom syndrome

Criteria Provided
Conflicting Classifications

rs_745518051

2 SubmittersRCV001172528 RCV002557481

NM_001378454.1(ALMS1):c.9976G>C (p.Ala3326Pro)

SNV
Germline

Chr2:73550335

Conflicting classifications of pathogenicity

Condition: not provided
Monogenic diabetes
Alstrom syndrome
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

rs_201213079

7 SubmittersRCV001546161 RCV001172530 RCV001324083 RCV002379672 RCV003387969

NM_001378454.1(ALMS1):c.11323C>G (p.Leu3775Val)

SNV
Germline

Chr2:73573200

Conflicting classifications of pathogenicity

Monogenic diabetes
Alstrom syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_771595125

6 SubmittersRCV001172497 RCV001244765 RCV002320387 RCV004813829

NM_001378454.1(ALMS1):c.12103G>A (p.Ala4035Thr)

SNV
Germline

Chr2:73601425

Conflicting classifications of pathogenicity

Monogenic diabetes
Alstrom syndrome
not specified

Criteria Provided
Conflicting Classifications

rs_757364858

5 SubmittersRCV001172504 RCV001833728 RCV001328464

NM_001378454.1(ALMS1):c.3136C>T (p.Gln1046Ter)

SNV
Germline

Chr2:73449663

Pathogenic

Alstrom syndrome

No Assertion Criteria Provided

rs_1671885850

2 SubmittersRCV001175181

NM_001378454.1(ALMS1):c.9733G>A (p.Ala3245Thr)

SNV
Germline

Chr2:73519968

Conflicting classifications of pathogenicity

not specified
Alstrom syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_200432874

5 SubmittersRCV001175498 RCV001828590 RCV004590113 RCV004629476

NM_001378454.1(ALMS1):c.3484A>G (p.Thr1162Ala)

SNV
Germline

Chr2:73450011

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
ALMS1-related disorder
Alstrom syndrome

Criteria Provided
Conflicting Classifications

rs_763680884

4 SubmittersRCV001193869 RCV003163489 RCV004740613 RCV002504220

NM_001378454.1(ALMS1):c.4709C>T (p.Ser1570Phe)

SNV
Germline

Chr2:73451236

Conflicting classifications of pathogenicity

not specified
Alstrom syndrome

Criteria Provided
Conflicting Classifications

rs_765461259

2 SubmittersRCV001195322 RCV002560196

NM_001378454.1(ALMS1):c.8563G>T (p.Gly2855Ter)

SNV
Germline

Chr2:73490522

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_1672957185

1 SubmittersRCV001215765

NM_001378454.1(ALMS1):c.10988G>A (p.Trp3663Ter)

SNV
Germline

Chr2:73572865

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_1674968936

1 SubmittersRCV001222508

NM_001378454.1(ALMS1):c.367C>T (p.Gln123Ter)

SNV
Germline

Chr2:73408664

Pathogenic/Likely pathogenic

Alstrom syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_1392057115

3 SubmittersRCV001204779 RCV003225156 RCV004033626

NM_001378454.1(ALMS1):c.2038C>T (p.Arg680Ter)

SNV
Germline

Chr2:73448565

Pathogenic

Alstrom syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_115444326

5 SubmittersRCV001206802 RCV002418690 RCV003159188

NM_001378454.1(ALMS1):c.2203C>T (p.Gln735Ter)

SNV
Germline

Chr2:73448730

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_757152182

1 SubmittersRCV001210020

NM_001378454.1(ALMS1):c.3325C>T (p.Gln1109Ter)

SNV
Germline

Chr2:73449852

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_1671890891

1 SubmittersRCV001204166

NM_001378454.1(ALMS1):c.6094G>T (p.Gly2032Ter)

SNV
Germline

Chr2:73452621

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_1671971419

1 SubmittersRCV001205824

NM_001378454.1(ALMS1):c.10357A>T (p.Lys3453Ter)

SNV
Germline

Chr2:73559115

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_1674604760

1 SubmittersRCV001204874

NM_001378454.1(ALMS1):c.450+2T>C

SNV
Germline

Chr2:73408749

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_1671019928

2 SubmittersRCV001205765

NM_001378454.1(ALMS1):c.12299-2A>G

SNV
Germline

Chr2:73603239

Likely pathogenic

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_759788656

2 SubmittersRCV001201575 RCV002365901

NM_001378454.1(ALMS1):c.350G>A (p.Trp117Ter)

SNV
Germline

Chr2:73408647

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_1671017057

1 SubmittersRCV001231719

NM_001378454.1(ALMS1):c.3150C>A (p.Tyr1050Ter)

SNV
Germline

Chr2:73449677

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_1671886193

1 SubmittersRCV001233211

NM_001378454.1(ALMS1):c.4318C>T (p.Gln1440Ter)

SNV
Germline

Chr2:73450845

Pathogenic/Likely pathogenic

Alstrom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1208636696

2 SubmittersRCV001238178

NM_001378454.1(ALMS1):c.10575C>A (p.His3525Gln)

SNV
Germline

Chr2:73572452

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1674954136

2 SubmittersRCV001233156 RCV004994352

NM_001378454.1(ALMS1):c.442G>A (p.Asp148Asn)

SNV
Germline

Chr2:73408739

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_757606922

4 SubmittersRCV001245663 RCV002327599

NM_001378454.1(ALMS1):c.2156G>A (p.Arg719Lys)

SNV
Germline

Chr2:73448683

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_923816827

4 SubmittersRCV001246200 RCV004629523

NM_001378454.1(ALMS1):c.2222C>T (p.Thr741Ile)

SNV
Germline

Chr2:73448749

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_758047046

2 SubmittersRCV001240867 RCV004034664

NM_001378454.1(ALMS1):c.4173C>A (p.Phe1391Leu)

SNV
Germline

Chr2:73450700

Conflicting classifications of pathogenicity

Alstrom syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_370406004

5 SubmittersRCV001246472 RCV001773561 RCV002327601

NM_001378454.1(ALMS1):c.8108C>T (p.Pro2703Leu)

SNV
Germline

Chr2:73490067

Conflicting classifications of pathogenicity

Alstrom syndrome
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

rs_199604280

7 SubmittersRCV001244561 RCV001876293 RCV002418841 RCV003399007

NM_001378454.1(ALMS1):c.11104C>T (p.Arg3702Ter)

SNV
Germline

Chr2:73572981

Pathogenic

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_747747269

2 SubmittersRCV001246836 RCV002451604

NM_001378454.1(ALMS1):c.7674+1G>T

SNV
Germline

Chr2:73455296

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_1417025395

1 SubmittersRCV001235762

NM_001378454.1(ALMS1):c.2467C>T (p.Gln823Ter)

SNV
Germline

Chr2:73448994

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_201853697

2 SubmittersRCV001255894

NM_001378454.1(ALMS1):c.5926C>T (p.Gln1976Ter)

SNV
Germline

Chr2:73452453

Pathogenic

Alstrom syndrome

No Assertion Criteria Provided

rs_533606326

1 SubmittersRCV001255898

NM_001378454.1(ALMS1):c.8779C>T (p.Arg2927Ter)

SNV
Germline

Chr2:73490738

Pathogenic

Alstrom syndrome
Cardiovascular phenotype
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_376244626

7 SubmittersRCV001255899 RCV004035356 RCV004814033

NM_001378454.1(ALMS1):c.10972C>T (p.Arg3658Ter)

SNV
Germline

Chr2:73572849

Pathogenic

Alstrom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_780438592

3 SubmittersRCV001255907

NM_001378454.1(ALMS1):c.1681G>A (p.Ala561Thr)

SNV
Germline

Chr2:73448208

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_776104521

3 SubmittersRCV001277426 RCV004035448

NM_001378454.1(ALMS1):c.3582A>G (p.Gln1194=)

SNV
Germline

Chr2:73450109

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_768478218

3 SubmittersRCV001277431 RCV002451634

NM_001378454.1(ALMS1):c.3974T>G (p.Val1325Gly)

SNV
Germline

Chr2:73450501

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_868269804

5 SubmittersRCV001277432 RCV002375321 RCV004590294

NM_001378454.1(ALMS1):c.5765T>C (p.Val1922Ala)

SNV
Germline

Chr2:73452292

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_761428155

3 SubmittersRCV001278758 RCV002357068

NM_001378454.1(ALMS1):c.4454T>C (p.Ile1485Thr)

SNV
Germline

Chr2:73450981

Conflicting classifications of pathogenicity

not specified
Alstrom syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_564400636

5 SubmittersRCV001280687 RCV001830075 RCV004035514 RCV004778042

NM_001378454.1(ALMS1):c.2785G>T (p.Glu929Ter)

SNV
Germline

Chr2:73449312

Pathogenic

Alstrom syndrome

No Assertion Criteria Provided

rs_1572933082

1 SubmittersRCV001293389

NM_001378454.1(ALMS1):c.2542A>G (p.Thr848Ala)

SNV
Germline

Chr2:73449069

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_777811953

3 SubmittersRCV001297221 RCV002430089

NM_001378454.1(ALMS1):c.3255G>T (p.Gln1085His)

SNV
Germline

Chr2:73449782

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_181507134

4 SubmittersRCV001298073 RCV004619602

NM_001378454.1(ALMS1):c.2464C>T (p.Gln822Ter)

SNV
Germline

Chr2:73448991

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_568037602

1 SubmittersRCV001335703

NM_001378454.1(ALMS1):c.2466A>G (p.Gln822=)

SNV
Germline

Chr2:73448993

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_755661115

3 SubmittersRCV001350743 RCV002447433

NM_001378454.1(ALMS1):c.847G>C (p.Glu283Gln)

SNV
Germline

Chr2:73424512

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_780066739

3 SubmittersRCV001369135 RCV004037072

NM_001378454.1(ALMS1):c.6639C>G (p.Asp2213Glu)

SNV
Germline

Chr2:73453166

Conflicting classifications of pathogenicity

Alstrom syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_769322538

4 SubmittersRCV001364202 RCV001762628 RCV004036904

NM_001378454.1(ALMS1):c.8765T>C (p.Ile2922Thr)

SNV
Germline

Chr2:73490724

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype
ALMS1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_201738475

6 SubmittersRCV001361942 RCV002377514 RCV003394001 RCV004720870

NM_001378454.1(ALMS1):c.11668+1G>A

SNV
Germline

Chr2:73599522

Pathogenic

Alstrom syndrome

No Assertion Criteria Provided

rs_1181992959

1 SubmittersRCV001375482

NM_001378454.1(ALMS1):c.5684C>G (p.Ser1895Cys)

SNV
Germline

Chr2:73452211

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_2103787360

1 SubmittersRCV001376207

NM_001378454.1(ALMS1):c.647-2A>T

SNV
Germline

Chr2:73422855

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_1671310097

1 SubmittersRCV001379006

NM_001378454.1(ALMS1):c.1432+2T>A

SNV
Germline

Chr2:73432293

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_2103734661

1 SubmittersRCV001378042

NM_001378454.1(ALMS1):c.196G>T (p.Glu66Ter)

SNV
Germline

Chr2:73386064

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_1169223296

1 SubmittersRCV001389560

NM_001378454.1(ALMS1):c.211G>T (p.Glu71Ter)

SNV
Germline

Chr2:73386079

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_757131983

1 SubmittersRCV001384370

NM_001378454.1(ALMS1):c.1348G>T (p.Glu450Ter)

SNV
Germline

Chr2:73432207

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_2103734325

1 SubmittersRCV001381078

NM_001378454.1(ALMS1):c.1447G>T (p.Gly483Ter)

SNV
Germline

Chr2:73447974

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_2103771067

1 SubmittersRCV001383106

NM_001378454.1(ALMS1):c.2041C>T (p.Gln681Ter)

SNV
Germline

Chr2:73448568

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_190439406

1 SubmittersRCV001381071

NM_001378454.1(ALMS1):c.2071C>T (p.Gln691Ter)

SNV
Germline

Chr2:73448598

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_752875933

1 SubmittersRCV001384848

NM_001378454.1(ALMS1):c.2896C>T (p.Gln966Ter)

SNV
Germline

Chr2:73449423

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_761177629

1 SubmittersRCV001384822

NM_001378454.1(ALMS1):c.4210G>T (p.Glu1404Ter)

SNV
Germline

Chr2:73450737

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_2103781864

1 SubmittersRCV001384452

NM_001378454.1(ALMS1):c.4715C>G (p.Ser1572Ter)

SNV
Germline

Chr2:73451242

Pathogenic

Alstrom syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2103783763

2 SubmittersRCV001384453 RCV003128764

NM_001378454.1(ALMS1):c.6831C>A (p.Cys2277Ter)

SNV
Germline

Chr2:73453358

Pathogenic/Likely pathogenic

Alstrom syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_761713440

3 SubmittersRCV001386970 RCV002509681

NM_001378454.1(ALMS1):c.7405G>T (p.Glu2469Ter)

SNV
Germline

Chr2:73453932

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_373586405

1 SubmittersRCV001386398

NM_001378454.1(ALMS1):c.7589C>G (p.Ser2530Ter)

SNV
Germline

Chr2:73455210

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_1572939837

1 SubmittersRCV001380127

NM_001378454.1(ALMS1):c.8653C>T (p.Arg2885Ter)

SNV
Germline

Chr2:73490612

Pathogenic

Alstrom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_776563011

3 SubmittersRCV001384454

NM_001378454.1(ALMS1):c.9442C>T (p.Gln3148Ter)

SNV
Germline

Chr2:73491401

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_917667192

1 SubmittersRCV001382588

NM_001378454.1(ALMS1):c.9834T>A (p.Tyr3278Ter)

SNV
Germline

Chr2:73534876

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_1573000972

1 SubmittersRCV001390728

NM_001378454.1(ALMS1):c.10385-2A>G

SNV
Germline

Chr2:73572260

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_1255779642

1 SubmittersRCV001384456

NM_001378454.1(ALMS1):c.10750C>T (p.Gln3584Ter)

SNV
Germline

Chr2:73572627

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_192823093

1 SubmittersRCV001384457

NM_001378454.1(ALMS1):c.11707C>T (p.Arg3903Ter)

SNV
Germline

Chr2:73600716

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_1290800821

1 SubmittersRCV001389803

NM_001378454.1(ALMS1):c.12124C>T (p.Gln4042Ter)

SNV
Germline

Chr2:73602194

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_1675708936

1 SubmittersRCV001386194

NM_001378454.1(ALMS1):c.6820C>T (p.Leu2274=)

SNV
Germline

Chr2:73453347

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype
Intellectual disability

Criteria Provided
Conflicting Classifications

rs_1447282271

3 SubmittersRCV001418138 RCV002368309 RCV001533006

NM_001378454.1(ALMS1):c.11632C>T (p.Gln3878Ter)

SNV
Germline

Chr2:73599485

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_1675625092

1 SubmittersRCV001420808

NM_001378454.1(ALMS1):c.12093A>G (p.Pro4031=)

SNV
Germline

Chr2:73601415

Conflicting classifications of pathogenicity

Alstrom syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_758682688

3 SubmittersRCV001438521 RCV001732183 RCV004631708

NM_001378454.1(ALMS1):c.2059C>T (p.His687Tyr)

SNV
Germline

Chr2:73448586

Conflicting classifications of pathogenicity

not specified
Alstrom syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_771266951

4 SubmittersRCV001449788 RCV001872006 RCV004038480 RCV004779121

NM_001378454.1(ALMS1):c.8688A>G (p.Ala2896=)

SNV
Germline

Chr2:73490647

Conflicting classifications of pathogenicity

Alstrom syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1338132238

2 SubmittersRCV001461052 RCV003318689

NM_001378454.1(ALMS1):c.6087T>C (p.Thr2029=)

SNV
Germline

Chr2:73452614

Conflicting classifications of pathogenicity

Alstrom syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_199967386

3 SubmittersRCV001503597 RCV001762702 RCV002359128

NM_001378454.1(ALMS1):c.10214-4G>A

SNV
Germline

Chr2:73558968

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_757482053

2 SubmittersRCV001502684 RCV002414218

NM_001378454.1(ALMS1):c.4002C>G (p.Tyr1334Ter)

SNV
Germline

Chr2:73450529

Likely pathogenic

Alstrom syndrome
Condition: not provided

Criteria Provided
Single Submitter

rs_2103780942

2 SubmittersRCV001832751 RCV001551491

NM_001378454.1(ALMS1):c.1966G>T (p.Glu656Ter)

SNV
Germline

Chr2:73448493

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_773971557

1 SubmittersRCV001553710

NM_001378454.1(ALMS1):c.4987A>G (p.Thr1663Ala)

SNV
Germline

Chr2:73451514

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiovascular phenotype
Alstrom syndrome

Criteria Provided
Conflicting Classifications

rs_770424780

7 SubmittersRCV001573767 RCV002282566 RCV002343749 RCV002488399

NM_001378454.1(ALMS1):c.3477G>T (p.Leu1159Phe)

SNV
Germline

Chr2:73450004

Conflicting classifications of pathogenicity

Condition: not provided
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_575644902

3 SubmittersRCV001575958 RCV002569082 RCV004995950

NM_001378454.1(ALMS1):c.10816C>T (p.Arg3606Trp)

SNV
Germline

Chr2:73572693

Pathogenic

Leber congenital amaurosis
Alstrom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1250097723

2 SubmittersRCV001591899 RCV001866158

NM_001378454.1(ALMS1):c.1900C>T (p.Gln634Ter)

SNV
Germline

Chr2:73448427

Pathogenic/Likely pathogenic

Alstrom syndrome
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_780843883

4 SubmittersRCV001728015 RCV004815607

NM_001378454.1(ALMS1):c.109G>C (p.Val37Leu)

SNV
Germline

Chr2:73385977

Conflicting classifications of pathogenicity

Condition: not provided
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_774784126

4 SubmittersRCV001732283 RCV002032712 RCV002324170

NM_001378454.1(ALMS1):c.4886G>A (p.Arg1629Gln)

SNV
Germline

Chr2:73451413

Conflicting classifications of pathogenicity

Condition: not provided
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_142917664

4 SubmittersRCV001732439 RCV002032717 RCV002334652

NM_001378454.1(ALMS1):c.619A>T (p.Arg207Ter)

SNV
Germline

Chr2:73419291

Pathogenic/Likely pathogenic

Condition: not provided
Cardiovascular phenotype
Alstrom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_771994237

5 SubmittersRCV001732993 RCV002361009 RCV002496060

NM_001378454.1(ALMS1):c.4888C>T (p.Gln1630Ter)

SNV
Germline

Chr2:73451415

Pathogenic

Alstrom syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_974309886

3 SubmittersRCV002032733 RCV001733459 RCV003365442

NM_001378454.1(ALMS1):c.3914A>G (p.His1305Arg)

SNV
Germline

Chr2:73450441

Conflicting classifications of pathogenicity

Condition: not provided
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1394932968

3 SubmittersRCV001757950 RCV002539885 RCV004631734

NM_001378454.1(ALMS1):c.12275G>A (p.Arg4092His)

SNV
Germline

Chr2:73602345

Conflicting classifications of pathogenicity

Condition: not provided
Alstrom syndrome
Cardiovascular phenotype
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_748624161

5 SubmittersRCV001758838 RCV001885025 RCV002370288 RCV004815622

NM_001378454.1(ALMS1):c.2396A>G (p.Gln799Arg)

SNV
Germline

Chr2:73448923

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Alstrom syndrome

Criteria Provided
Conflicting Classifications

rs_530083993

4 SubmittersRCV001763782 RCV002458590 RCV002488593

NM_001378454.1(ALMS1):c.1153A>G (p.Ser385Gly)

SNV
Germline

Chr2:73424818

Conflicting classifications of pathogenicity

Condition: not provided
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_761174114

4 SubmittersRCV001800008 RCV001885238 RCV002361058

NM_001378454.1(ALMS1):c.4068G>C (p.Glu1356Asp)

SNV
Germline

Chr2:73450595

Conflicting classifications of pathogenicity

Condition: not provided
Alstrom syndrome
Cardiovascular phenotype
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_376812264

6 SubmittersRCV001810340 RCV001869572 RCV002324208 RCV004815639

NM_001378454.1(ALMS1):c.3463C>T (p.His1155Tyr)

SNV
Germline

Chr2:73449990

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_2103779035

1 SubmittersRCV001808222

NM_001378454.1(ALMS1):c.5088A>C (p.Gly1696=)

SNV
Germline

Chr2:73451615

Conflicting classifications of pathogenicity

not specified
Alstrom syndrome

Criteria Provided
Conflicting Classifications

rs_2103785042

2 SubmittersRCV001819658 RCV003609194

NM_001378454.1(ALMS1):c.12115-1G>T

SNV
Germline

Chr2:73602184

Pathogenic/Likely pathogenic

Condition: not provided
Alstrom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_769160407

2 SubmittersRCV001817885 RCV001869791

NM_001378454.1(ALMS1):c.11668+1G>T

SNV
Germline

Chr2:73599522

Pathogenic/Likely pathogenic

Alstrom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1181992959

2 SubmittersRCV002034253

NM_001378454.1(ALMS1):c.4948C>T (p.Pro1650Ser)

SNV
Germline

Chr2:73451475

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_765233016

3 SubmittersRCV001880541 RCV002334746

NM_001378454.1(ALMS1):c.1237+2T>G

SNV
Germline

Chr2:73424904

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_916056435

1 SubmittersRCV002018989

NM_001378454.1(ALMS1):c.4435G>A (p.Gly1479Arg)

SNV
Germline

Chr2:73450962

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_750765175

3 SubmittersRCV001967941 RCV004996138

NM_001378454.1(ALMS1):c.10078+1G>T

SNV
Germline

Chr2:73550438

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_765075310

2 SubmittersRCV002036669 RCV002443082

NM_001378454.1(ALMS1):c.6886C>T (p.Gln2296Ter)

SNV
Germline

Chr2:73453413

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_747355678

1 SubmittersRCV001994572

NM_001378454.1(ALMS1):c.4571C>G (p.Ser1524Ter)

SNV
Germline

Chr2:73451098

Pathogenic/Likely pathogenic

Alstrom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1558649531

2 SubmittersRCV001999883

NM_001378454.1(ALMS1):c.8444C>G (p.Ser2815Ter)

SNV
Germline

Chr2:73490403

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_2103891827

1 SubmittersRCV001994595

NM_001378454.1(ALMS1):c.11547+3A>T

SNV
Germline

Chr2:73573427

Likely pathogenic

Alstrom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1271250182

2 SubmittersRCV001994206

NM_001378454.1(ALMS1):c.1359T>A (p.Tyr453Ter)

SNV
Germline

Chr2:73432218

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_2103734375

1 SubmittersRCV001950321

NM_001378454.1(ALMS1):c.3576C>G (p.Tyr1192Ter)

SNV
Germline

Chr2:73450103

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_1671899045

1 SubmittersRCV001950787

NM_001378454.1(ALMS1):c.1480A>T (p.Lys494Ter)

SNV
Germline

Chr2:73448007

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_2103771218

1 SubmittersRCV001946737

NM_001378454.1(ALMS1):c.1844C>G (p.Ser615Ter)

SNV
Germline

Chr2:73448371

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_2103772444

1 SubmittersRCV001946781

NM_001378454.1(ALMS1):c.6826C>T (p.Arg2276Ter)

SNV
Germline

Chr2:73453353

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_1238145717

1 SubmittersRCV001905142

NM_001378454.1(ALMS1):c.3944C>T (p.Ala1315Val)

SNV
Germline

Chr2:73450471

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_750671777

2 SubmittersRCV001952275 RCV004631827

NM_001378454.1(ALMS1):c.9385C>T (p.Gln3129Ter)

SNV
Germline

Chr2:73491344

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_1314034889

1 SubmittersRCV001950216

NM_001378454.1(ALMS1):c.9325C>T (p.Gln3109Ter)

SNV
Germline

Chr2:73491284

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_1558667813

1 SubmittersRCV001949248

NM_001378454.1(ALMS1):c.1756C>T (p.Gln586Ter)

SNV
Germline

Chr2:73448283

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_2103772104

1 SubmittersRCV001949302

NM_001378454.1(ALMS1):c.2513C>A (p.Ser838Ter)

SNV
Germline

Chr2:73449040

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_2103775505

1 SubmittersRCV001891078

NM_001378454.1(ALMS1):c.1433-2A>G

SNV
Germline

Chr2:73447958

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_2103770992

1 SubmittersRCV002005086

NM_001378454.1(ALMS1):c.3295C>A (p.Gln1099Lys)

SNV
Germline

Chr2:73449822

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_764823951

3 SubmittersRCV001997098 RCV003170125

NM_001378454.1(ALMS1):c.5117C>T (p.Ser1706Leu)

SNV
Germline

Chr2:73451644

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1187000436

2 SubmittersRCV001929837 RCV004039924

NM_001378454.1(ALMS1):c.1517T>C (p.Ile506Thr)

SNV
Germline

Chr2:73448044

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_976096963

2 SubmittersRCV001912463 RCV003166990

NM_001378454.1(ALMS1):c.11882G>A (p.Trp3961Ter)

SNV
Germline

Chr2:73601204

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_1332287946

1 SubmittersRCV001958906

NM_001378454.1(ALMS1):c.10834C>T (p.Gln3612Ter)

SNV
Germline

Chr2:73572711

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_756345976

1 SubmittersRCV001963024

NM_001378454.1(ALMS1):c.5318T>A (p.Leu1773Ter)

SNV
Germline

Chr2:73451845

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_2103786025

1 SubmittersRCV001958956

NM_001378454.1(ALMS1):c.1402G>C (p.Val468Leu)

SNV
Germline

Chr2:73432261

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1409680993

2 SubmittersRCV001935464 RCV004042711

NM_001378454.1(ALMS1):c.974C>T (p.Ser325Leu)

SNV
Germline

Chr2:73424639

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_376632767

4 SubmittersRCV002039994 RCV002386600

NM_001378454.1(ALMS1):c.10519A>G (p.Met3507Val)

SNV
Germline

Chr2:73572396

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1350031802

3 SubmittersRCV001972115 RCV004042896

NM_001378454.1(ALMS1):c.5963A>G (p.Tyr1988Cys)

SNV
Germline

Chr2:73452490

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_757977017

2 SubmittersRCV001972246 RCV004996133

NM_001378454.1(ALMS1):c.5966C>A (p.Ser1989Ter)

SNV
Germline

Chr2:73452493

Pathogenic/Likely pathogenic

Alstrom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_777080769

2 SubmittersRCV001916985

NM_001378454.1(ALMS1):c.2536G>T (p.Gly846Ter)

SNV
Germline

Chr2:73449063

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_201154998

1 SubmittersRCV001926991

NM_001378454.1(ALMS1):c.11554A>T (p.Asn3852Tyr)

SNV
Germline

Chr2:73599407

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_753182165

2 SubmittersRCV001927034 RCV004631834

NM_001378454.1(ALMS1):c.8684G>A (p.Arg2895His)

SNV
Germline

Chr2:73490643

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_755542969

3 SubmittersRCV001864390 RCV002370413 RCV002265038

NM_001378454.1(ALMS1):c.9804T>A (p.Tyr3268Ter)

SNV
Germline

Chr2:73534846

Pathogenic/Likely pathogenic

Alstrom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_368412850

2 SubmittersRCV002000002

NM_001378454.1(ALMS1):c.9905C>G (p.Ser3302Ter)

SNV
Germline

Chr2:73534947

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_1673996095

1 SubmittersRCV002037780

NM_001378454.1(ALMS1):c.9352G>T (p.Gly3118Ter)

SNV
Germline

Chr2:73491311

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_2103895712

1 SubmittersRCV002037807

NM_001378454.1(ALMS1):c.6467T>A (p.Leu2156Ter)

SNV
Germline

Chr2:73452994

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_2103790206

1 SubmittersRCV002035505

NM_001378454.1(ALMS1):c.10214A>T (p.Asp3405Val)

SNV
Germline

Chr2:73558972

Conflicting classifications of pathogenicity

Alstrom syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_781411724

4 SubmittersRCV002002920 RCV004591681 RCV004631899

NM_001378454.1(ALMS1):c.3649A>T (p.Lys1217Ter)

SNV
Germline

Chr2:73450176

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_779928593

1 SubmittersRCV001939541

NM_001378454.1(ALMS1):c.11669-1G>C

SNV
Germline

Chr2:73600677

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_750737346

1 SubmittersRCV001942968

NM_001378454.1(ALMS1):c.3112C>T (p.Gln1038Ter)

SNV
Germline

Chr2:73449639

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_2103777652

1 SubmittersRCV001918866

NM_001378454.1(ALMS1):c.73G>T (p.Glu25Ter)

SNV
Germline

Chr2:73385941

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_1285425883

1 SubmittersRCV001931192

NM_001378454.1(ALMS1):c.10214-2A>G

SNV
Germline

Chr2:73558970

Likely pathogenic

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_2104063527

2 SubmittersRCV002037586 RCV003299030

NM_001378454.1(ALMS1):c.7540+2T>C

SNV
Germline

Chr2:73454069

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_1672009270

1 SubmittersRCV002041589

NM_001378454.1(ALMS1):c.2312G>A (p.Ser771Asn)

SNV
Germline

Chr2:73448839

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_2103774719

3 SubmittersRCV001913295 RCV004631809

NM_001378454.1(ALMS1):c.8044G>T (p.Glu2682Ter)

SNV
Germline

Chr2:73490003

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_779187578

1 SubmittersRCV001946915

NM_001378454.1(ALMS1):c.5307C>A (p.Tyr1769Ter)

SNV
Germline

Chr2:73451834

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_758678450

1 SubmittersRCV001913033

NM_001378454.1(ALMS1):c.10212A>G (p.Ala3404=)

SNV
Germline

Chr2:73557353

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_755401614

2 SubmittersRCV001949922 RCV002407103

NM_001378454.1(ALMS1):c.9637C>G (p.Leu3213Val)

SNV
Germline

Chr2:73519872

Conflicting classifications of pathogenicity

Alstrom syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_575305602

4 SubmittersRCV001949926 RCV003314710 RCV004041865

NM_001378454.1(ALMS1):c.11873-1G>C

SNV
Germline

Chr2:73601194

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_2104195295

1 SubmittersRCV001951050

NM_001378454.1(ALMS1):c.8965C>T (p.Gln2989Ter)

SNV
Germline

Chr2:73490924

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_2103894102

1 SubmittersRCV001946851

NM_001378454.1(ALMS1):c.1052G>A (p.Arg351Gln)

SNV
Germline

Chr2:73424717

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_563989825

3 SubmittersRCV001889052 RCV002406999

NM_001378454.1(ALMS1):c.3514T>A (p.Ser1172Thr)

SNV
Germline

Chr2:73450041

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_756748918

3 SubmittersRCV001875167 RCV002458698

NM_001378454.1(ALMS1):c.5905C>G (p.Pro1969Ala)

SNV
Germline

Chr2:73452432

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_552496175

3 SubmittersRCV001871089 RCV002359338

NM_001378454.1(ALMS1):c.9579T>A (p.Ser3193=)

SNV
Germline

Chr2:73519814

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_769786449

2 SubmittersRCV001909072 RCV004042583

NM_001378454.1(ALMS1):c.8998C>T (p.Gln3000Ter)

SNV
Germline

Chr2:73490957

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_200930613

1 SubmittersRCV001949365

NM_001378454.1(ALMS1):c.4271T>A (p.Leu1424Ter)

SNV
Germline

Chr2:73450798

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_2103782122

1 SubmittersRCV001956227

NM_001378454.1(ALMS1):c.450+1G>A

SNV
Germline

Chr2:73408748

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_1302255267

1 SubmittersRCV002000964

NM_001378454.1(ALMS1):c.9397C>G (p.Pro3133Ala)

SNV
Germline

Chr2:73491356

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_45493191

3 SubmittersRCV001941416 RCV002370584

NM_001378454.1(ALMS1):c.9607C>T (p.Gln3203Ter)

SNV
Germline

Chr2:73519842

Pathogenic/Likely pathogenic

Alstrom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_956247442

2 SubmittersRCV001888235

NM_001378454.1(ALMS1):c.12040C>T (p.Arg4014Trp)

SNV
Germline

Chr2:73601362

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_543346172

4 SubmittersRCV001927697 RCV002344004 RCV004728922

NM_001378454.1(ALMS1):c.3422C>G (p.Ser1141Ter)

SNV
Germline

Chr2:73449949

Pathogenic

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_780622565

2 SubmittersRCV002049361 RCV004631757

NM_001378454.1(ALMS1):c.61G>T (p.Glu21Ter)

SNV
Germline

Chr2:73385929

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_1438410766

1 SubmittersRCV001883877

NM_001378454.1(ALMS1):c.3436C>T (p.Gln1146Ter)

SNV
Germline

Chr2:73449963

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_2103778961

1 SubmittersRCV001918401

NM_001378454.1(ALMS1):c.7672A>T (p.Lys2558Ter)

SNV
Germline

Chr2:73455293

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_1200012970

1 SubmittersRCV001941203

NM_001378454.1(ALMS1):c.571G>T (p.Glu191Ter)

SNV
Germline

Chr2:73419243

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_765553310

1 SubmittersRCV001963079

NM_001378454.1(ALMS1):c.646+2T>A

SNV
Germline

Chr2:73419320

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_1572911143

1 SubmittersRCV002018638

NM_001378454.1(ALMS1):c.6049A>G (p.Ser2017Gly)

SNV
Germline

Chr2:73452576

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1021572525

2 SubmittersRCV001955755 RCV004996141

NM_001378454.1(ALMS1):c.10103C>G (p.Thr3368Ser)

SNV
Germline

Chr2:73557244

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1270212178

2 SubmittersRCV001975632 RCV004042171

NM_001378454.1(ALMS1):c.5425A>G (p.Arg1809Gly)

SNV
Germline

Chr2:73451952

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1257660889

3 SubmittersRCV001948672 RCV004996127

NM_001378454.1(ALMS1):c.10831C>T (p.Gln3611Ter)

SNV
Germline

Chr2:73572708

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_2104105305

1 SubmittersRCV001956532

NM_001378454.1(ALMS1):c.12363-2A>C

SNV
Germline

Chr2:73608473

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_2104216032

1 SubmittersRCV002048216

NM_001378454.1(ALMS1):c.3891C>A (p.Tyr1297Ter)

SNV
Germline

Chr2:73450418

Pathogenic/Likely pathogenic

Alstrom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2103780557

2 SubmittersRCV001881220

NM_001378454.1(ALMS1):c.9770G>A (p.Arg3257His)

SNV
Germline

Chr2:73520005

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Alstrom syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_748153319

3 SubmittersRCV002386761 RCV001984619 RCV004784016

NM_001378454.1(ALMS1):c.12362+1G>A

SNV
Germline

Chr2:73603305

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_2104203068

1 SubmittersRCV002021811

NM_001378454.1(ALMS1):c.1291G>T (p.Glu431Ter)

SNV
Germline

Chr2:73426506

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

rs_2103720460

1 SubmittersRCV001948815

NM_001378454.1(ALMS1):c.9782-4T>C

SNV
Germline

Chr2:73534820

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1313825506

2 SubmittersRCV002141063 RCV002373005

NM_001378454.1(ALMS1):c.8430A>G (p.Lys2810=)

SNV
Germline

Chr2:73490389

Conflicting classifications of pathogenicity

Alstrom syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1483404753

2 SubmittersRCV002192641 RCV004763327

NM_001378454.1(ALMS1):c.10385-5T>C

SNV
Germline

Chr2:73572257

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1345014390

2 SubmittersRCV002199633 RCV004631947

NM_001378454.1(ALMS1):c.7450A>T (p.Lys2484Ter)

SNV
Germline

Chr2:73453977

Pathogenic/Likely pathogenic

Alstrom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2103794046

3 SubmittersRCV002249247

NM_001378454.1(ALMS1):c.12363-5C>G

SNV
Germline

Chr2:73608470

Conflicting classifications of pathogenicity

Alstrom syndrome

Criteria Provided
Conflicting Classifications

rs_774448248

2 SubmittersRCV002272840

NM_001378454.1(ALMS1):c.3230C>G (p.Ser1077Ter)

SNV
Germline

Chr2:73449757

Pathogenic

Alstrom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003096185

NM_001378454.1(ALMS1):c.10825C>T (p.Gln3609Ter)

SNV
Germline

Chr2:73572702

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003107989

NM_001378454.1(ALMS1):c.10226C>G (p.Ala3409Gly)

SNV
Germline

Chr2:73558984

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Alstrom syndrome

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002281428 RCV002409633 RCV003101610

NM_001378454.1(ALMS1):c.2590G>T (p.Gly864Ter)

SNV
Unknown

Chr2:73449117

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002306457

NM_001378454.1(ALMS1):c.9064C>T (p.Gln3022Ter)

SNV
Unknown

Chr2:73491023

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002306475

NM_001378454.1(ALMS1):c.1000A>T (p.Lys334Ter)

SNV
Unknown

Chr2:73424665

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002306707

NM_001378454.1(ALMS1):c.3952G>T (p.Gly1318Ter)

SNV
Unknown

Chr2:73450479

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002306783

NM_001378454.1(ALMS1):c.10798G>T (p.Glu3600Ter)

SNV
Unknown

Chr2:73572675

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002306792

NM_001378454.1(ALMS1):c.9427A>T (p.Lys3143Ter)

SNV
Unknown

Chr2:73491386

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002306811

NM_001378454.1(ALMS1):c.10288A>T (p.Lys3430Ter)

SNV
Unknown

Chr2:73559046

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002309553

NM_001378454.1(ALMS1):c.5560A>T (p.Arg1854Ter)

SNV
Unknown

Chr2:73452087

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002309566

NM_001378454.1(ALMS1):c.5929A>T (p.Lys1977Ter)

SNV
Unknown

Chr2:73452456

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002309640

NM_001378454.1(ALMS1):c.5620A>T (p.Lys1874Ter)

SNV
Germline

Chr2:73452147

Pathogenic/Likely pathogenic

Alstrom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002309657

NM_001378454.1(ALMS1):c.10402G>T (p.Glu3468Ter)

SNV
Unknown

Chr2:73572279

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002309735

NM_001378454.1(ALMS1):c.8490T>A (p.Cys2830Ter)

SNV
Unknown

Chr2:73490449

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002309844

NM_001378454.1(ALMS1):c.5653A>T (p.Lys1885Ter)

SNV
Unknown

Chr2:73452180

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002309848

NM_001378454.1(ALMS1):c.6205A>T (p.Lys2069Ter)

SNV
Unknown

Chr2:73452732

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002309849

NM_001378454.1(ALMS1):c.10121C>A (p.Ser3374Ter)

SNV
Unknown

Chr2:73557262

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002309970

NM_001378454.1(ALMS1):c.5239C>T (p.Gln1747Ter)

SNV
Unknown

Chr2:73451766

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002310006

NM_001378454.1(ALMS1):c.1324G>T (p.Glu442Ter)

SNV
Unknown

Chr2:73426539

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002310043

NM_001378454.1(ALMS1):c.3176T>A (p.Leu1059Ter)

SNV
Unknown

Chr2:73449703

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002310063

NM_001378454.1(ALMS1):c.8435T>A (p.Leu2812Ter)

SNV
Unknown

Chr2:73490394

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002307883

NM_001378454.1(ALMS1):c.9121A>T (p.Arg3041Ter)

SNV
Unknown

Chr2:73491080

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002308310

NM_001378454.1(ALMS1):c.4300A>T (p.Lys1434Ter)

SNV
Unknown

Chr2:73450827

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002308322

NM_001378454.1(ALMS1):c.3778G>T (p.Glu1260Ter)

SNV
Unknown

Chr2:73450305

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002308363

NM_001378454.1(ALMS1):c.1645G>T (p.Glu549Ter)

SNV
Unknown

Chr2:73448172

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002309023

NM_001378454.1(ALMS1):c.5977A>T (p.Lys1993Ter)

SNV
Unknown

Chr2:73452504

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002309208

NM_001378454.1(ALMS1):c.4960A>T (p.Lys1654Ter)

SNV
Unknown

Chr2:73451487

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002309246

NM_001378454.1(ALMS1):c.6175C>T (p.Gln2059Ter)

SNV
Unknown

Chr2:73452702

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002309346

NM_001378454.1(ALMS1):c.7544G>A (p.Trp2515Ter)

SNV
Unknown

Chr2:73455165

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002309358

NM_001378454.1(ALMS1):c.5964C>A (p.Tyr1988Ter)

SNV
Unknown

Chr2:73452491

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002309484

NM_001378454.1(ALMS1):c.478C>T (p.Gln160Ter)

SNV
Germline

Chr2:73419150

Pathogenic/Likely pathogenic

Alstrom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002309487

NM_001378454.1(ALMS1):c.3868A>T (p.Arg1290Ter)

SNV
Unknown

Chr2:73450395

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002309514

NM_001378454.1(ALMS1):c.9226A>T (p.Lys3076Ter)

SNV
Unknown

Chr2:73491185

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002306936

NM_001378454.1(ALMS1):c.10321A>T (p.Lys3441Ter)

SNV
Unknown

Chr2:73559079

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002306962

NM_001378454.1(ALMS1):c.985G>T (p.Glu329Ter)

SNV
Unknown

Chr2:73424650

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002307018

NM_001378454.1(ALMS1):c.4351G>T (p.Glu1451Ter)

SNV
Unknown

Chr2:73450878

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002307188

NM_001378454.1(ALMS1):c.10984G>T (p.Glu3662Ter)

SNV
Unknown

Chr2:73572861

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002307275

NM_001378454.1(ALMS1):c.1336A>T (p.Lys446Ter)

SNV
Unknown

Chr2:73426551

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002307282

NM_001378454.1(ALMS1):c.11943T>A (p.Cys3981Ter)

SNV
Unknown

Chr2:73601265

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002307286

NM_001378454.1(ALMS1):c.2689A>T (p.Lys897Ter)

SNV
Unknown

Chr2:73449216

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002310087

NM_001378454.1(ALMS1):c.7777G>T (p.Glu2593Ter)

SNV
Unknown

Chr2:73489736

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002310122

NM_001378454.1(ALMS1):c.10874T>A (p.Leu3625Ter)

SNV
Unknown

Chr2:73572751

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002310141

NM_001378454.1(ALMS1):c.12193G>T (p.Glu4065Ter)

SNV
Unknown

Chr2:73602263

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002310164

NM_001378454.1(ALMS1):c.1178C>A (p.Ser393Ter)

SNV
Unknown

Chr2:73424843

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002310185

NM_001378454.1(ALMS1):c.9823A>T (p.Lys3275Ter)

SNV
Unknown

Chr2:73534865

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002310252

NM_001378454.1(ALMS1):c.10346G>A (p.Trp3449Ter)

SNV
Unknown

Chr2:73559104

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002310259

NM_001378454.1(ALMS1):c.5903C>A (p.Ser1968Ter)

SNV
Unknown

Chr2:73452430

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002310273

NM_001378454.1(ALMS1):c.2333T>A (p.Leu778Ter)

SNV
Unknown

Chr2:73448860

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002310310

NM_001378454.1(ALMS1):c.7806T>A (p.Cys2602Ter)

SNV
Unknown

Chr2:73489765

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002310367

NM_001378454.1(ALMS1):c.8077G>T (p.Glu2693Ter)

SNV
Unknown

Chr2:73490036

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002310405

NM_001378454.1(ALMS1):c.6487G>T (p.Glu2163Ter)

SNV
Unknown

Chr2:73453014

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002310422

NM_001378454.1(ALMS1):c.6910A>T (p.Lys2304Ter)

SNV
Unknown

Chr2:73453437

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002310433

NM_001378454.1(ALMS1):c.5553C>A (p.Tyr1851Ter)

SNV
Unknown

Chr2:73452080

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002310463

NM_001378454.1(ALMS1):c.1045A>T (p.Lys349Ter)

SNV
Unknown

Chr2:73424710

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002310468

NM_001378454.1(ALMS1):c.5830A>T (p.Arg1944Ter)

SNV
Unknown

Chr2:73452357

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002310511

NM_001378454.1(ALMS1):c.6070A>T (p.Lys2024Ter)

SNV
Unknown

Chr2:73452597

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002310541

NM_001378454.1(ALMS1):c.9850C>T (p.Gln3284Ter)

SNV
Unknown

Chr2:73534892

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002310550

NM_001378454.1(ALMS1):c.7898T>A (p.Leu2633Ter)

SNV
Unknown

Chr2:73489857

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002310576

NM_001378454.1(ALMS1):c.2686C>T (p.Gln896Ter)

SNV
Unknown

Chr2:73449213

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002308420

NM_001378454.1(ALMS1):c.3490A>G (p.Ile1164Val)

SNV
Germline

Chr2:73450017

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Alstrom syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002459047 RCV003102382

NM_001378454.1(ALMS1):c.3839C>G (p.Ala1280Gly)

SNV
Germline

Chr2:73450366

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Alstrom syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002364077 RCV003120911

NM_001378454.1(ALMS1):c.451-2A>G

SNV
Germline

Chr2:73419121

Likely pathogenic

Cardiovascular phenotype
Alstrom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002340115 RCV003094749

NM_001378454.1(ALMS1):c.11840A>G (p.Lys3947Arg)

SNV
Germline

Chr2:73600849

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Alstrom syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002337674 RCV003102626

NM_001378454.1(ALMS1):c.12417A>T (p.Lys4139Asn)

SNV
Germline

Chr2:73608529

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Alstrom syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002380311 RCV003098556

NM_001378454.1(ALMS1):c.7641A>G (p.Leu2547=)

SNV
Germline

Chr2:73455262

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Alstrom syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002396370 RCV003099705

NM_001378454.1(ALMS1):c.10421G>A (p.Arg3474His)

SNV
Germline

Chr2:73572298

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Alstrom syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

4 SubmittersRCV002392423 RCV003095284 RCV003229919

NM_001378454.1(ALMS1):c.1966G>A (p.Glu656Lys)

SNV
Germline

Chr2:73448493

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Alstrom syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002423439 RCV003097396

NM_001378454.1(ALMS1):c.2403T>C (p.Thr801=)

SNV
Germline

Chr2:73448930

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Alstrom syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002450291 RCV003101791 RCV004725282

NM_001378454.1(ALMS1):c.2008T>A (p.Ser670Thr)

SNV
Germline

Chr2:73448535

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Alstrom syndrome
not specified

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002417367 RCV003097423 RCV003324036

NM_001378454.1(ALMS1):c.2223T>A (p.Thr741=)

SNV
Germline

Chr2:73448750

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Alstrom syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002428150 RCV003101143

NM_001378454.1(ALMS1):c.2555C>T (p.Ala852Val)

SNV
Germline

Chr2:73449082

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Alstrom syndrome
not specified

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002455840 RCV003101969 RCV003331365

NM_001378454.1(ALMS1):c.2566A>G (p.Thr856Ala)

SNV
Germline

Chr2:73449093

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Alstrom syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002425978 RCV003101981

NM_001378454.1(ALMS1):c.2875G>A (p.Glu959Lys)

SNV
Germline

Chr2:73449402

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003102817 RCV002437750 RCV004785724

NM_001378454.1(ALMS1):c.284A>G (p.Gln95Arg)

SNV
Germline

Chr2:73386152

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Alstrom syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002437770 RCV003102818

NM_001378454.1(ALMS1):c.2969A>G (p.Gln990Arg)

SNV
Germline

Chr2:73449496

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Alstrom syndrome

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002442111 RCV003883828 RCV003102933

NM_001378454.1(ALMS1):c.8299A>G (p.Lys2767Glu)

SNV
Germline

Chr2:73490258

Conflicting classifications of pathogenicity

Condition: not provided
Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002464678 RCV003103171 RCV004067546

NM_001378454.1(ALMS1):c.10853G>A (p.Gly3618Asp)

SNV
Germline

Chr2:73572730

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002470622 RCV004067606

NM_001378454.1(ALMS1):c.1562C>G (p.Ala521Gly)

SNV
Germline

Chr2:73448089

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003058592 RCV004070249

NM_001378454.1(ALMS1):c.8079A>G (p.Glu2693=)

SNV
Germline

Chr2:73490038

Conflicting classifications of pathogenicity

Alstrom syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003076426 RCV003171029

NM_001378454.1(ALMS1):c.7975C>T (p.Pro2659Ser)

SNV
Germline

Chr2:73489934

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003068612 RCV004992472

NM_001378454.1(ALMS1):c.3233C>T (p.Ala1078Val)

SNV
Germline

Chr2:73449760

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003063631 RCV004071617

NM_001378454.1(ALMS1):c.1969C>T (p.Gln657Ter)

SNV
Germline

Chr2:73448496

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003085748

NM_001378454.1(ALMS1):c.8258A>G (p.His2753Arg)

SNV
Germline

Chr2:73490217

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003092342 RCV004992495

NM_001378454.1(ALMS1):c.6061C>T (p.Gln2021Ter)

SNV
Germline

Chr2:73452588

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003072768

NM_001378454.1(ALMS1):c.1352C>A (p.Ser451Ter)

SNV
Germline

Chr2:73432211

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002587913

NM_001378454.1(ALMS1):c.9889G>A (p.Val3297Ile)

SNV
Germline

Chr2:73534931

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002588398 RCV003161890

NM_001378454.1(ALMS1):c.8822A>G (p.Gln2941Arg)

SNV
Germline

Chr2:73490781

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002595765 RCV004992520

NM_001378454.1(ALMS1):c.422C>T (p.Thr141Ile)

SNV
Germline

Chr2:73408719

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002633455 RCV004070743

NM_001378454.1(ALMS1):c.8042C>G (p.Ser2681Ter)

SNV
Germline

Chr2:73490001

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002651485

NM_001378454.1(ALMS1):c.8935C>T (p.Gln2979Ter)

SNV
Germline

Chr2:73490894

Pathogenic

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002664243 RCV004072131

NM_001378454.1(ALMS1):c.11002C>T (p.Gln3668Ter)

SNV
Germline

Chr2:73572879

Pathogenic

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002634379 RCV004072132

NM_001378454.1(ALMS1):c.3049T>A (p.Trp1017Arg)

SNV
Germline

Chr2:73449576

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002634210 RCV004634201

NM_001378454.1(ALMS1):c.3701C>T (p.Pro1234Leu)

SNV
Germline

Chr2:73450228

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002659630 RCV004070844

NM_001378454.1(ALMS1):c.11374C>T (p.Gln3792Ter)

SNV
Germline

Chr2:73573251

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002644522

NM_001378454.1(ALMS1):c.8221C>T (p.Gln2741Ter)

SNV
Germline

Chr2:73490180

Pathogenic

Alstrom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002510385

NM_001378454.1(ALMS1):c.4229C>T (p.Ala1410Val)

SNV
Germline

Chr2:73450756

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002573081 RCV004064465

NM_001378454.1(ALMS1):c.6319C>T (p.Gln2107Ter)

SNV
Germline

Chr2:73452846

Pathogenic

Alstrom syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002635268 RCV003232643

NM_001378454.1(ALMS1):c.4436G>A (p.Gly1479Glu)

SNV
Germline

Chr2:73450963

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002635629 RCV004990814

NM_001378454.1(ALMS1):c.11960G>A (p.Trp3987Ter)

SNV
Germline

Chr2:73601282

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002630828

NM_001378454.1(ALMS1):c.5025C>G (p.Tyr1675Ter)

SNV
Germline

Chr2:73451552

Pathogenic

Alstrom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002649976

NM_001378454.1(ALMS1):c.7540+1G>T

SNV
Germline

Chr2:73454068

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002659491

NM_001378454.1(ALMS1):c.5277T>G (p.Tyr1759Ter)

SNV
Germline

Chr2:73451804

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002710764

NM_001378454.1(ALMS1):c.5896A>T (p.Lys1966Ter)

SNV
Germline

Chr2:73452423

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002726657

NM_001378454.1(ALMS1):c.5825C>G (p.Ser1942Ter)

SNV
Germline

Chr2:73452352

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002761722

NM_001378454.1(ALMS1):c.2110C>T (p.Gln704Ter)

SNV
Germline

Chr2:73448637

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002741731

NM_001378454.1(ALMS1):c.11272A>G (p.Thr3758Ala)

SNV
Germline

Chr2:73573149

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype
ALMS1-related disorder

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002795836 RCV004064854 RCV004741336

NM_001378454.1(ALMS1):c.10079-2A>G

SNV
Germline

Chr2:73557218

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002801489

NM_001378454.1(ALMS1):c.11400C>A (p.Cys3800Ter)

SNV
Germline

Chr2:73573277

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002824668

NM_001378454.1(ALMS1):c.1013G>A (p.Arg338His)

SNV
Germline

Chr2:73424678

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002828959 RCV004990882

NM_001378454.1(ALMS1):c.4004C>G (p.Ser1335Ter)

SNV
Germline

Chr2:73450531

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002838901

NM_001378454.1(ALMS1):c.3895C>T (p.Gln1299Ter)

SNV
Germline

Chr2:73450422

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002838903

NM_001378454.1(ALMS1):c.11547+2T>C

SNV
Germline

Chr2:73573426

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002825620

NM_001378454.1(ALMS1):c.12199A>T (p.Lys4067Ter)

SNV
Germline

Chr2:73602269

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002825623

NM_001378454.1(ALMS1):c.7540+1G>A

SNV
Germline

Chr2:73454068

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002834330

NM_001378454.1(ALMS1):c.8739T>G (p.Tyr2913Ter)

SNV
Germline

Chr2:73490698

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002862442

NM_001378454.1(ALMS1):c.12259C>T (p.Gln4087Ter)

SNV
Germline

Chr2:73602329

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002881448

NM_001378454.1(ALMS1):c.3253C>T (p.Gln1085Ter)

SNV
Germline

Chr2:73449780

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002853419

NM_001378454.1(ALMS1):c.7067C>A (p.Ser2356Ter)

SNV
Germline

Chr2:73453594

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002847194

NM_001378454.1(ALMS1):c.9781+1G>C

SNV
Germline

Chr2:73520017

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002848245

NM_001378454.1(ALMS1):c.5854C>T (p.Gln1952Ter)

SNV
Germline

Chr2:73452381

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002899021

NM_001378454.1(ALMS1):c.5350A>T (p.Lys1784Ter)

SNV
Germline

Chr2:73451877

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002889643

NM_001378454.1(ALMS1):c.4G>T (p.Glu2Ter)

SNV
Germline

Chr2:73385872

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002867716

NM_001378454.1(ALMS1):c.12215T>A (p.Leu4072Ter)

SNV
Germline

Chr2:73602285

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002867752

NM_001378454.1(ALMS1):c.2292C>G (p.Tyr764Ter)

SNV
Germline

Chr2:73448819

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002894450

NM_001378454.1(ALMS1):c.3631A>G (p.Ile1211Val)

SNV
Germline

Chr2:73450158

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002899696 RCV004632087

NM_001378454.1(ALMS1):c.4321C>T (p.Gln1441Ter)

SNV
Germline

Chr2:73450848

Pathogenic/Likely pathogenic

Alstrom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002913535

NM_001378454.1(ALMS1):c.5887G>T (p.Glu1963Ter)

SNV
Germline

Chr2:73452414

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002913544

NM_001378454.1(ALMS1):c.9805A>T (p.Lys3269Ter)

SNV
Germline

Chr2:73534847

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002927712

NM_001378454.1(ALMS1):c.9584A>C (p.Lys3195Thr)

SNV
Germline

Chr2:73519819

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002943168 RCV004632113

NM_001378454.1(ALMS1):c.7087C>G (p.Leu2363Val)

SNV
Germline

Chr2:73453614

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002971878 RCV004990940

NM_001378454.1(ALMS1):c.1721C>T (p.Ser574Phe)

SNV
Germline

Chr2:73448248

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002954249 RCV004632119

NM_001378454.1(ALMS1):c.2663C>G (p.Ser888Ter)

SNV
Germline

Chr2:73449190

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002966654

NM_001378454.1(ALMS1):c.12114+1G>A

SNV
Germline

Chr2:73601437

Likely pathogenic

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002942529 RCV004067256

NM_001378454.1(ALMS1):c.9841C>T (p.Gln3281Ter)

SNV
Germline

Chr2:73534883

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003017885

NM_001378454.1(ALMS1):c.4751C>G (p.Ala1584Gly)

SNV
Germline

Chr2:73451278

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003000079 RCV004068517

NM_001378454.1(ALMS1):c.7145A>G (p.Gln2382Arg)

SNV
Germline

Chr2:73453672

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002972560 RCV004065137

NM_001378454.1(ALMS1):c.2231C>G (p.Ser744Ter)

SNV
Germline

Chr2:73448758

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002979168

NM_001378454.1(ALMS1):c.1579G>T (p.Glu527Ter)

SNV
Germline

Chr2:73448106

Pathogenic

Alstrom syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003010335 RCV004725458

NM_001378454.1(ALMS1):c.11170C>T (p.Gln3724Ter)

SNV
Germline

Chr2:73573047

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003013886

NM_001378454.1(ALMS1):c.1946C>G (p.Ser649Ter)

SNV
Germline

Chr2:73448473

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003031010

NM_001378454.1(ALMS1):c.10063C>T (p.Gln3355Ter)

SNV
Germline

Chr2:73550422

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003017647

NM_001378454.1(ALMS1):c.7866C>A (p.Cys2622Ter)

SNV
Germline

Chr2:73489825

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003024045

NM_001378454.1(ALMS1):c.7244C>G (p.Ser2415Ter)

SNV
Germline

Chr2:73453771

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003026968

NM_001378454.1(ALMS1):c.3050G>A (p.Trp1017Ter)

SNV
Germline

Chr2:73449577

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003032208

NM_001378454.1(ALMS1):c.1625T>G (p.Leu542Ter)

SNV
Germline

Chr2:73448152

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003046880

NM_001378454.1(ALMS1):c.12397A>T (p.Arg4133Ter)

SNV
Germline

Chr2:73608509

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003056056

NM_001378454.1(ALMS1):c.6538G>T (p.Gly2180Ter)

SNV
Germline

Chr2:73453065

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003056296

NM_001378454.1(ALMS1):c.31G>T (p.Glu11Ter)

SNV
Germline

Chr2:73385899

Pathogenic/Likely pathogenic

Cardiovascular phenotype
Alstrom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003171643 RCV003609261

NM_001378454.1(ALMS1):c.9540-2A>G

SNV
Germline

Chr2:73519773

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003335826

NM_001378454.1(ALMS1):c.12313C>T (p.Gln4105Ter)

SNV
Germline

Chr2:73603255

Pathogenic

Cardiovascular phenotype
Alstrom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003382170 RCV003502728

NM_001378454.1(ALMS1):c.6703A>T (p.Lys2235Ter)

SNV
Germline

Chr2:73453230

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003502766

NM_001378454.1(ALMS1):c.1594C>T (p.Gln532Ter)

SNV
Germline

Chr2:73448121

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003502964

NM_001378454.1(ALMS1):c.9907+1G>A

SNV
Germline

Chr2:73534950

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003503618

NM_001378454.1(ALMS1):c.12409A>T (p.Lys4137Ter)

SNV
Germline

Chr2:73608521

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003503627

NM_001378454.1(ALMS1):c.7234A>T (p.Lys2412Ter)

SNV
Germline

Chr2:73453761

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003504090

NM_001378454.1(ALMS1):c.10842G>T (p.Gln3614His)

SNV
Germline

Chr2:73572719

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003504092 RCV004992635

NM_001378454.1(ALMS1):c.6993C>A (p.Cys2331Ter)

SNV
Germline

Chr2:73453520

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003504443

NM_001378454.1(ALMS1):c.3466C>T (p.Gln1156Ter)

SNV
Germline

Chr2:73449993

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003504208

NM_001378454.1(ALMS1):c.2705C>G (p.Ser902Ter)

SNV
Germline

Chr2:73449232

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003504506

NM_001378454.1(ALMS1):c.3751C>T (p.Gln1251Ter)

SNV
Germline

Chr2:73450278

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003504508

NM_001378454.1(ALMS1):c.4036C>T (p.Gln1346Ter)

SNV
Germline

Chr2:73450563

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003504509

NM_001378454.1(ALMS1):c.4360G>T (p.Glu1454Ter)

SNV
Germline

Chr2:73450887

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003504510

NM_001378454.1(ALMS1):c.5132T>G (p.Leu1711Ter)

SNV
Germline

Chr2:73451659

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003504511

NM_001378454.1(ALMS1):c.12391A>T (p.Lys4131Ter)

SNV
Germline

Chr2:73608503

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003502237

NM_001378454.1(ALMS1):c.46G>T (p.Glu16Ter)

SNV
Germline

Chr2:73385914

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003502112

NM_001378454.1(ALMS1):c.8637C>A (p.Cys2879Ter)

SNV
Germline

Chr2:73490596

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003502320

NM_001378454.1(ALMS1):c.496C>T (p.Gln166Ter)

SNV
Germline

Chr2:73419168

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003503094

NM_001378454.1(ALMS1):c.5746G>T (p.Glu1916Ter)

SNV
Germline

Chr2:73452273

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003502969

NM_001378454.1(ALMS1):c.765-1G>C

SNV
Germline

Chr2:73424429

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003503031

NM_001378454.1(ALMS1):c.8153C>A (p.Ser2718Ter)

SNV
Germline

Chr2:73490112

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003503310

NM_001378454.1(ALMS1):c.2797A>T (p.Lys933Ter)

SNV
Germline

Chr2:73449324

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003503374

NM_001378454.1(ALMS1):c.9751C>T (p.Gln3251Ter)

SNV
Germline

Chr2:73519986

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003609357

NM_001378454.1(ALMS1):c.9068C>G (p.Ser3023Ter)

SNV
Germline

Chr2:73491027

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003609616

NM_001378454.1(ALMS1):c.847G>T (p.Glu283Ter)

SNV
Germline

Chr2:73424512

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003610179

NM_001378454.1(ALMS1):c.2494G>T (p.Glu832Ter)

SNV
Germline

Chr2:73449021

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003610219

NM_001378454.1(ALMS1):c.5396C>G (p.Ser1799Ter)

SNV
Germline

Chr2:73451923

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003610236

NM_001378454.1(ALMS1):c.12299-1G>C

SNV
Germline

Chr2:73603240

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003610336

NM_001378454.1(ALMS1):c.10909C>T (p.Gln3637Ter)

SNV
Germline

Chr2:73572786

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003610273

NM_001378454.1(ALMS1):c.5583T>A (p.Tyr1861Ter)

SNV
Germline

Chr2:73452110

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003608800

NM_001378454.1(ALMS1):c.5307C>G (p.Tyr1769Ter)

SNV
Germline

Chr2:73451834

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003608739

NM_001378454.1(ALMS1):c.10132C>T (p.Gln3378Ter)

SNV
Germline

Chr2:73557273

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003608744

NM_001378454.1(ALMS1):c.595G>T (p.Glu199Ter)

SNV
Germline

Chr2:73419267

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003608817

NM_001378454.1(ALMS1):c.823G>T (p.Glu275Ter)

SNV
Germline

Chr2:73424488

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003608829

NM_001378454.1(ALMS1):c.2446A>T (p.Lys816Ter)

SNV
Germline

Chr2:73448973

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003608820

NM_001378454.1(ALMS1):c.214G>T (p.Glu72Ter)

SNV
Germline

Chr2:73386082

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003608945

NM_001378454.1(ALMS1):c.11548-2A>G

SNV
Germline

Chr2:73599399

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003609107

NM_001378454.1(ALMS1):c.236G>A (p.Trp79Ter)

SNV
Germline

Chr2:73386104

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003610592

NM_001378454.1(ALMS1):c.2182C>T (p.Gln728Ter)

SNV
Germline

Chr2:73448709

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003610633

NM_001378454.1(ALMS1):c.5722C>T (p.Gln1908Ter)

SNV
Germline

Chr2:73452249

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003610584

NM_001378454.1(ALMS1):c.2179C>T (p.Gln727Ter)

SNV
Germline

Chr2:73448706

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003609921

NM_001378454.1(ALMS1):c.2827C>T (p.Gln943Ter)

SNV
Germline

Chr2:73449354

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003818681

NM_001378454.1(ALMS1):c.237G>A (p.Trp79Ter)

SNV
Germline

Chr2:73386105

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003828817

NM_001378454.1(ALMS1):c.784G>T (p.Glu262Ter)

SNV
Germline

Chr2:73424449

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003865896

NM_001378454.1(ALMS1):c.10999C>T (p.Gln3667Ter)

SNV
Germline

Chr2:73572876

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003875381

NM_001378454.1(ALMS1):c.10213+1G>T

SNV
Germline

Chr2:73557355

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003871907

NM_001378454.1(ALMS1):c.12217C>T (p.Gln4073Ter)

SNV
Germline

Chr2:73602287

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003876737

NM_001378454.1(ALMS1):c.1432+2T>C

SNV
Germline

Chr2:73432293

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003876854

NM_001378454.1(ALMS1):c.11137C>T (p.Gln3713Ter)

SNV
Germline

Chr2:73573014

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003875051

NM_001378454.1(ALMS1):c.12456T>G (p.Tyr4152Ter)

SNV
Germline

Chr2:73608568

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004576151

NM_001378454.1(ALMS1):c.889C>T (p.Gln297Ter)

SNV
Germline

Chr2:73424554

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004577263

NM_001378454.1(ALMS1):c.3295C>T (p.Gln1099Ter)

SNV
Germline

Chr2:73449822

Likely pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004691661

NM_001378454.1(ALMS1):c.5972C>G (p.Ser1991Ter)

SNV
Germline

Chr2:73452499

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004699957

NM_001378454.1(ALMS1):c.5719C>T (p.Gln1907Ter)

SNV
Unknown

Chr2:73452246

Pathogenic

Alstrom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004775656