Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001360.3(DHCR7):c.356A>T (p.His119Leu)	SNV Germline	Chr11:71442319	Conflicting classifications of pathogenicity	Smith-Lemli-Opitz syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA253936	rs_28938174	5 SubmittersRCV000007182 RCV000274996 RCV004585991
NM_001360.3(DHCR7):c.730G>A (p.Gly244Arg)	SNV Germline	Chr11:71438980	Pathogenic/Likely pathogenic	Smith-Lemli-Opitz syndrome Condition: not provided DHCR7-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA253939	rs_121909764	9 SubmittersRCV000007183 RCV001804715 RCV004748505
NM_001360.3(DHCR7):c.744G>T (p.Trp248Cys)	SNV Germline	Chr11:71438966	Pathogenic	Smith-Lemli-Opitz syndrome	No Assertion Criteria Provided	CA253942	rs_104894212	1 SubmittersRCV000007184
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met)	SNV Germline	Chr11:71444036	Pathogenic/Likely pathogenic	Smith-Lemli-Opitz syndrome Condition: not provided Abnormal brain morphology See cases	Criteria Provided Multiple Submitters No Conflicts	CA221665	rs_80338853	17 SubmittersRCV000007185 RCV000079651 RCV000454251 RCV003985253
NM_001360.3(DHCR7):c.453G>A (p.Trp151Ter)	SNV Germline	Chr11:71441400	Pathogenic	Smith-Lemli-Opitz syndrome	No Assertion Criteria Provided	CA253945	rs_104894213	1 SubmittersRCV000007186
NM_001360.3(DHCR7):c.976G>T (p.Val326Leu)	SNV Germline	Chr11:71435827	Pathogenic/Likely pathogenic	Smith-Lemli-Opitz syndrome Condition: not provided DHCR7-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA340609	rs_80338859	13 SubmittersRCV000007187 RCV001550331 RCV004748506
NM_001360.3(DHCR7):c.1054C>T (p.Arg352Trp)	SNV Germline	Chr11:71435749	Pathogenic	Smith-Lemli-Opitz syndrome Microcephaly Condition: not provided DHCR7-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA340612	rs_80338860	14 SubmittersRCV000007189 RCV001252750 RCV000259783 RCV003934805
NM_001360.3(DHCR7):c.1210C>T (p.Arg404Cys)	SNV Germline	Chr11:71435593	Pathogenic	Smith-Lemli-Opitz syndrome Condition: not provided Inborn genetic diseases DHCR7-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA340615	rs_61757582	14 SubmittersRCV000007190 RCV000723830 RCV001266513 RCV003407290
NM_001360.3(DHCR7):c.866C>T (p.Thr289Ile)	SNV Germline	Chr11:71437909	Pathogenic/Likely pathogenic	Smith-Lemli-Opitz syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA253946	rs_121909765	9 SubmittersRCV000007191 RCV000412788 RCV002371766
NM_001360.3(DHCR7):c.839A>G (p.Tyr280Cys)	SNV Germline	Chr11:71437936	Pathogenic/Likely pathogenic	Smith-Lemli-Opitz syndrome DHCR7-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA253949	rs_121909766	3 SubmittersRCV000007192 RCV003407291
NM_001360.3(DHCR7):c.3G>A (p.Met1Ile)	SNV Germline	Chr11:71444950	Pathogenic/Likely pathogenic	Smith-Lemli-Opitz syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA118510	rs_121909767	9 SubmittersRCV000169218 RCV001528227
NM_001360.3(DHCR7):c.1342G>A (p.Glu448Lys)	SNV Germline	Chr11:71435461	Pathogenic/Likely pathogenic	Smith-Lemli-Opitz syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA118513	rs_80338864	13 SubmittersRCV000020435 RCV000790762
NM_001360.3(DHCR7):c.1A>G (p.Met1Val)	SNV Germline	Chr11:71444952	Pathogenic/Likely pathogenic	Condition: not provided Smith-Lemli-Opitz syndrome Inborn genetic diseases DHCR7-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA118516	rs_104886033	19 SubmittersRCV000224026 RCV000169384 RCV001267308 RCV003390651
NM_001360.3(DHCR7):c.1055G>A (p.Arg352Gln)	SNV Germline	Chr11:71435748	Pathogenic	Smith-Lemli-Opitz syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA253952	rs_121909768	10 SubmittersRCV000007197 RCV000254828
NM_001360.3(DHCR7):c.1228G>A (p.Gly410Ser)	SNV Germline	Chr11:71435575	Pathogenic	Smith-Lemli-Opitz syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA221650	rs_80338862	14 SubmittersRCV000020434 RCV000079640 RCV002316198
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter)	SNV Germline	Chr11:71441401	Pathogenic/Likely pathogenic	Smith-Lemli-Opitz syndrome Condition: not provided Inborn genetic diseases DHCR7-related disorder Elevated circulating 7-dehydrocholesterol concentration Small for gestational age 2-3 toe syndactyly Primary microcephaly	Criteria Provided Multiple Submitters No Conflicts	CA221671	rs_11555217	37 SubmittersRCV000020436 RCV000079655 RCV002336089 RCV003415725 RCV000414879
NM_001360.3(DHCR7):c.506C>T (p.Ser169Leu)	SNV Germline	Chr11:71441347	Pathogenic/Likely pathogenic	Smith-Lemli-Opitz syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA341824	rs_80338855	11 SubmittersRCV000020437 RCV001818169 RCV002345251
NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys)	SNV Germline	Chr11:71438986	Pathogenic/Likely pathogenic	Smith-Lemli-Opitz syndrome DHCR7-related disorder Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA341827	rs_80338856	16 SubmittersRCV000020438 RCV004748531 RCV000389331 RCV002371778
NM_001360.3(DHCR7):c.725G>A (p.Arg242His)	SNV Germline	Chr11:71438985	Pathogenic/Likely pathogenic	Smith-Lemli-Opitz syndrome Condition: not provided DHCR7-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA341830	rs_80338857	15 SubmittersRCV000020439 RCV001529736 RCV004748532
NM_001360.3(DHCR7):c.906C>G (p.Phe302Leu)	SNV Germline	Chr11:71437869	Pathogenic/Likely pathogenic	Smith-Lemli-Opitz syndrome Inborn genetic diseases DHCR7-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA341833	rs_80338858	9 SubmittersRCV000020440 RCV002371779 RCV004748533
NM_001360.3(DHCR7):c.412+3A>T	SNV Germline	Chr11:71442260	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Multiple Submitters No Conflicts	CA259777	rs_786200926	3 SubmittersRCV000023212
NM_001360.3(DHCR7):c.1012G>A (p.Val338Met)	SNV Germline	Chr11:71435791	Conflicting classifications of pathogenicity	not specified Condition: not provided Smith-Lemli-Opitz syndrome Inborn genetic diseases DHCR7-related disorder	Criteria Provided Conflicting Classifications	CA221647	rs_72954276	9 SubmittersRCV000079638 RCV000585931 RCV001027947 RCV002313764 RCV003915058
NM_001360.3(DHCR7):c.1368C>T (p.Gly456=)	SNV Germline	Chr11:71435435	Conflicting classifications of pathogenicity	Smith-Lemli-Opitz syndrome not specified Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA221653	rs_144562471	9 SubmittersRCV000261724 RCV000247087 RCV000723626 RCV002316237
NM_001360.3(DHCR7):c.1384T>C (p.Tyr462His)	SNV Germline	Chr11:71435419	Conflicting classifications of pathogenicity	Condition: not provided Smith-Lemli-Opitz syndrome	Criteria Provided Conflicting Classifications	CA221656	rs_201270451	4 SubmittersRCV000079645 RCV000411557
NM_001360.3(DHCR7):c.151C>T (p.Pro51Ser)	SNV Germline	Chr11:71444163	Pathogenic	Condition: not provided Smith-Lemli-Opitz syndrome	Criteria Provided Multiple Submitters No Conflicts	CA221659	rs_104886035	6 SubmittersRCV000079646 RCV000178160
NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr)	SNV Germline	Chr11:71444115	Conflicting classifications of pathogenicity	Smith-Lemli-Opitz syndrome Condition: not provided Inborn genetic diseases not specified DHCR7-related disorder	Criteria Provided Conflicting Classifications	CA221662	rs_143999854	14 SubmittersRCV000509217 RCV000681711 RCV002313765 RCV003987353 RCV003415846
NM_001360.3(DHCR7):c.321+10C>T	SNV Germline	Chr11:71443983	Conflicting classifications of pathogenicity	not specified Smith-Lemli-Opitz syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA147248	rs_377108406	10 SubmittersRCV000079652 RCV000999843 RCV001705739
NM_001360.3(DHCR7):c.400G>T (p.Val134Leu)	SNV Germline	Chr11:71442275	Conflicting classifications of pathogenicity	Condition: not provided Smith-Lemli-Opitz syndrome Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA221668	rs_201466849	8 SubmittersRCV000079653 RCV000674435 RCV002354276 RCV004700393
NM_001360.3(DHCR7):c.485C>T (p.Ala162Val)	SNV Germline	Chr11:71441368	Conflicting classifications of pathogenicity	Condition: not provided Smith-Lemli-Opitz syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA221674	rs_398123606	6 SubmittersRCV000079656 RCV001274683 RCV002313766
NM_001360.3(DHCR7):c.69C>T (p.Thr23=)	SNV Germline	Chr11:71444884	Conflicting classifications of pathogenicity	Condition: not provided Smith-Lemli-Opitz syndrome Inborn genetic diseases DHCR7-related disorder	Criteria Provided Conflicting Classifications	CA221677	rs_199798127	5 SubmittersRCV000079658 RCV001439438 RCV002362726 RCV003935033
NM_001360.3(DHCR7):c.70G>T (p.Ala24Ser)	SNV Germline	Chr11:71444883	Conflicting classifications of pathogenicity	not specified Smith-Lemli-Opitz syndrome Condition: not provided Inborn genetic diseases DHCR7-related disorder	Criteria Provided Conflicting Classifications	CA147253	rs_146867923	9 SubmittersRCV000079659 RCV000380891 RCV001554963 RCV002313767 RCV003925050
NM_001360.3(DHCR7):c.841G>A (p.Val281Met)	SNV Germline	Chr11:71437934	Pathogenic/Likely pathogenic	Condition: not provided Smith-Lemli-Opitz syndrome Inborn genetic diseases DHCR7-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA221680	rs_398123607	12 SubmittersRCV000079660 RCV000180218 RCV000624268 RCV003935034
NM_001360.3(DHCR7):c.964-1G>C	SNV Germline	Chr11:71435840	Pathogenic/Likely pathogenic	Condition: not provided Smith-Lemli-Opitz syndrome Inborn genetic diseases See cases DHCR7-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA090917	rs_138659167	58 SubmittersRCV000079661 RCV000180570 RCV000623789 RCV002251968 RCV003390775
NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg)	SNV Germline	Chr11:71441392	Pathogenic/Likely pathogenic	Smith-Lemli-Opitz syndrome Condition: not provided Inborn genetic diseases DHCR7-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA233884	rs_143312232	16 SubmittersRCV000179381 RCV000790776 RCV002312988 RCV003917496
NM_001360.3(DHCR7):c.208G>A (p.Gly70Ser)	SNV Germline	Chr11:71444106	Conflicting classifications of pathogenicity	not specified Condition: not provided Smith-Lemli-Opitz syndrome Inborn genetic diseases DHCR7-related disorder	Criteria Provided Conflicting Classifications	CA233887	rs_144512551	8 SubmittersRCV000153144 RCV000897661 RCV001487990 RCV002415645 RCV003917497
NM_001360.3(DHCR7):c.126C>T (p.Ser42=)	SNV Germline	Chr11:71444188	Conflicting classifications of pathogenicity	not specified Smith-Lemli-Opitz syndrome Condition: not provided Inborn genetic diseases DHCR7-related disorder	Criteria Provided Conflicting Classifications	CA233407	rs_150928869	13 SubmittersRCV000152714 RCV000633529 RCV001657862 RCV002316959 RCV003975191
NM_001360.3(DHCR7):c.1092G>A (p.Thr364=)	SNV Germline	Chr11:71435711	Conflicting classifications of pathogenicity	not specified Smith-Lemli-Opitz syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA179963	rs_35946774	8 SubmittersRCV000153140 RCV000332036 RCV001706018 RCV002312674
NM_001360.3(DHCR7):c.522C>T (p.Phe174=)	SNV Germline	Chr11:71441331	Conflicting classifications of pathogenicity	Condition: not provided Smith-Lemli-Opitz syndrome	Criteria Provided Conflicting Classifications	CA233881	rs_140648594	4 SubmittersRCV000153142 RCV001087960
NM_001360.3(DHCR7):c.1426T>C (p.Ter476Gln)	SNV Germline	Chr11:71435377	Conflicting classifications of pathogenicity	Smith-Lemli-Opitz syndrome	Criteria Provided Conflicting Classifications	CA274163	rs_775034584	3 SubmittersRCV000169316
NM_001360.3(DHCR7):c.1139G>A (p.Cys380Tyr)	SNV Germline	Chr11:71435664	Pathogenic/Likely pathogenic	Smith-Lemli-Opitz syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA274343	rs_779709646	8 SubmittersRCV000169472 RCV001171660 RCV002453569
NM_001360.3(DHCR7):c.461C>T (p.Thr154Met)	SNV Germline	Chr11:71441392	Pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Multiple Submitters No Conflicts	CA274131	rs_143312232	7 SubmittersRCV000169290
NM_001360.3(DHCR7):c.292C>T (p.Gln98Ter)	SNV Germline	Chr11:71444022	Pathogenic	Smith-Lemli-Opitz syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA273887	rs_104886039	9 SubmittersRCV000169020 RCV000489856 RCV005549916
NM_001360.3(DHCR7):c.111G>A (p.Trp37Ter)	SNV Germline	Chr11:71444203	Pathogenic/Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Multiple Submitters No Conflicts	CA274449	rs_750345068	5 SubmittersRCV000169596
NM_001360.3(DHCR7):c.28C>G (p.Pro10Ala)	SNV Germline	Chr11:71444925	Conflicting classifications of pathogenicity	Condition: not provided Smith-Lemli-Opitz syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA243233	rs_139166382	7 SubmittersRCV000177130 RCV001832013 RCV002433771
NM_001360.3(DHCR7):c.399C>T (p.Ala133=)	SNV Germline	Chr11:71442276	Conflicting classifications of pathogenicity	not specified Smith-Lemli-Opitz syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA246033	rs_147424205	12 SubmittersRCV000243526 RCV000400238 RCV001706145 RCV002312727
NM_001360.3(DHCR7):c.582C>T (p.Phe194=)	SNV Germline	Chr11:71441271	Conflicting classifications of pathogenicity	Condition: not provided Smith-Lemli-Opitz syndrome	Criteria Provided Conflicting Classifications	CA246628	rs_150603941	4 SubmittersRCV000179382 RCV001081677
NM_001360.3(DHCR7):c.709C>T (p.Leu237=)	SNV Germline	Chr11:71439001	Conflicting classifications of pathogenicity	Condition: not provided Smith-Lemli-Opitz syndrome	Criteria Provided Conflicting Classifications	CA247131	rs_755941916	2 SubmittersRCV000179821 RCV001083804
NM_001360.3(DHCR7):c.906C>T (p.Phe302=)	SNV Germline	Chr11:71437869	Conflicting classifications of pathogenicity	Condition: not provided Smith-Lemli-Opitz syndrome Inborn genetic diseases DHCR7-related disorder	Criteria Provided Conflicting Classifications	CA247591	rs_80338858	8 SubmittersRCV000724362 RCV001086880 RCV002372104 RCV003937634
NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg)	SNV Germline	Chr11:71437868	Pathogenic/Likely pathogenic	Smith-Lemli-Opitz syndrome Condition: not provided See cases Inborn genetic diseases DHCR7-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA275430	rs_142808899	14 SubmittersRCV000180217 RCV000724095 RCV002252024 RCV002372105 RCV003907631
NM_001360.3(DHCR7):c.1362G>A (p.Lys454=)	SNV Germline	Chr11:71435441	Conflicting classifications of pathogenicity	Condition: not provided Smith-Lemli-Opitz syndrome Inborn genetic diseases DHCR7-related disorder	Criteria Provided Conflicting Classifications	CA248056	rs_147850435	5 SubmittersRCV000180568 RCV001080017 RCV002314676 RCV004748640
NM_001360.3(DHCR7):c.1270G>A (p.Gly424Ser)	SNV Germline	Chr11:71435533	Conflicting classifications of pathogenicity	Condition: not provided Smith-Lemli-Opitz syndrome	Criteria Provided Conflicting Classifications	CA248059	rs_368150818	3 SubmittersRCV000513082 RCV002054152
NM_001360.3(DHCR7):c.1396G>A (p.Val466Met)	SNV Germline	Chr11:71435407	Pathogenic/Likely pathogenic	Smith-Lemli-Opitz syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA6162239	rs_760428437	6 SubmittersRCV000536496 RCV000255209
NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu)	SNV Germline	Chr7:143330772	Pathogenic	Condition: not provided Smith-Lemli-Opitz syndrome Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form Tip-toe gait CLCN1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA4537163	rs_150885084	13 SubmittersRCV000305463 RCV001753743 RCV000560216 RCV003319192 RCV004535246
NM_001360.3(DHCR7):c.740C>T (p.Ala247Val)	SNV Germline	Chr11:71438970	Pathogenic/Likely pathogenic	Condition: not provided Smith-Lemli-Opitz syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10603223	rs_886041354	6 SubmittersRCV000383910 RCV000670451
NM_001360.3(DHCR7):c.91C>T (p.Arg31Cys)	SNV Germline	Chr11:71444862	Conflicting classifications of pathogenicity	Condition: not provided Smith-Lemli-Opitz syndrome not specified	Criteria Provided Conflicting Classifications	CA6162709	rs_367585401	7 SubmittersRCV000681774 RCV001114198 RCV001797701
NM_001360.3(DHCR7):c.1099C>T (p.Arg367Cys)	SNV Germline	Chr11:71435704	Conflicting classifications of pathogenicity	Condition: not provided not specified Smith-Lemli-Opitz syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6162313	rs_531038145	7 SubmittersRCV000259933 RCV003155146 RCV001828180 RCV002317798
NM_001360.3(DHCR7):c.139C>T (p.Leu47=)	SNV Germline	Chr11:71444175	Conflicting classifications of pathogenicity	Condition: not provided Smith-Lemli-Opitz syndrome not specified Inborn genetic diseases DHCR7-related disorder	Criteria Provided Conflicting Classifications	CA6162680	rs_140721259	7 SubmittersRCV000279800 RCV001483712 RCV001532990 RCV002314006 RCV003909950
NM_001360.3(DHCR7):c.1138T>C (p.Cys380Arg)	SNV Germline	Chr11:71435665	Pathogenic/Likely pathogenic	Condition: not provided Smith-Lemli-Opitz syndrome Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA6162305	rs_373306653	6 SubmittersRCV000725474 RCV000408382 RCV002321954
NM_001360.3(DHCR7):c.375C>T (p.Tyr125=)	SNV Germline	Chr11:71442300	Conflicting classifications of pathogenicity	Condition: not provided Smith-Lemli-Opitz syndrome not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6162599	rs_779401555	5 SubmittersRCV000291809 RCV001493916 RCV002307479 RCV002348006
NM_001360.3(DHCR7):c.729C>T (p.Pro243=)	SNV Germline	Chr11:71438981	Conflicting classifications of pathogenicity	Condition: not provided Smith-Lemli-Opitz syndrome Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA6162478	rs_145284180	7 SubmittersRCV000375257 RCV001086349 RCV002379139 RCV005238847
NM_001360.3(DHCR7):c.855C>T (p.Phe285=)	SNV Germline	Chr11:71437920	Conflicting classifications of pathogenicity	Condition: not provided Smith-Lemli-Opitz syndrome DHCR7-related disorder	Criteria Provided Conflicting Classifications	CA6162415	rs_781026169	5 SubmittersRCV000352664 RCV001088276 RCV003967772
NM_001360.3(DHCR7):c.927C>A (p.Gly309=)	SNV Germline	Chr11:71437848	Conflicting classifications of pathogenicity	Condition: not provided Smith-Lemli-Opitz syndrome Inborn genetic diseases DHCR7-related disorder	Criteria Provided Conflicting Classifications	CA6162402	rs_149974099	8 SubmittersRCV000275747 RCV000344149 RCV002314029 RCV003910023
NM_001360.3(DHCR7):c.840C>T (p.Tyr280=)	SNV Germline	Chr11:71437935	Conflicting classifications of pathogenicity	Condition: not provided Smith-Lemli-Opitz syndrome DHCR7-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6162416	rs_148468879	6 SubmittersRCV000263526 RCV000394015 RCV003967791 RCV003380538
NM_001360.3(DHCR7):c.1365C>T (p.Tyr455=)	SNV Germline	Chr11:71435438	Conflicting classifications of pathogenicity	Condition: not provided Smith-Lemli-Opitz syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6162248	rs_557097410	5 SubmittersRCV000333245 RCV001085996 RCV002317822
NM_001360.3(DHCR7):c.198C>T (p.Cys66=)	SNV Germline	Chr11:71444116	Conflicting classifications of pathogenicity	Condition: not provided Smith-Lemli-Opitz syndrome DHCR7-related disorder	Criteria Provided Conflicting Classifications	CA6162667	rs_775127532	3 SubmittersRCV000376184 RCV001485677 RCV003967798
NM_001360.3(DHCR7):c.1273G>A (p.Gly425Ser)	SNV Germline	Chr11:71435530	Conflicting classifications of pathogenicity	Smith-Lemli-Opitz syndrome Condition: not provided DHCR7-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6162273	rs_760242	7 SubmittersRCV000316974 RCV000595632 RCV003920263 RCV002374522
NM_001360.3(DHCR7):c.964-1G>T	SNV Germline	Chr11:71435840	Pathogenic/Likely pathogenic	Smith-Lemli-Opitz syndrome Condition: not provided Inborn genetic diseases DHCR7-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA6162346	rs_138659167	12 SubmittersRCV000383519 RCV001538276 RCV002522204 RCV003391078
NM_001360.3(DHCR7):c.1389C>T (p.Thr463=)	SNV Germline	Chr11:71435414	Conflicting classifications of pathogenicity	Smith-Lemli-Opitz syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6162241	rs_200477386	4 SubmittersRCV000301805 RCV003298368
NM_001360.3(DHCR7):c.1083C>A (p.Phe361Leu)	SNV Germline	Chr11:71435720	Conflicting classifications of pathogenicity	Smith-Lemli-Opitz syndrome	Criteria Provided Conflicting Classifications	CA6162320	rs_780088227	2 SubmittersRCV000292578
NM_001360.3(DHCR7):c.99-5C>T	SNV Germline	Chr11:71444220	Conflicting classifications of pathogenicity	Smith-Lemli-Opitz syndrome Condition: not provided Inborn genetic diseases DHCR7-related disorder	Criteria Provided Conflicting Classifications	CA6162688	rs_372886043	8 SubmittersRCV000328550 RCV000591841 RCV002379182 RCV003930297
NM_001360.3(DHCR7):c.-195G>T	SNV Germline	Chr11:71448353	Conflicting classifications of pathogenicity	Smith-Lemli-Opitz syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10639335	rs_141057811	4 SubmittersRCV000278979 RCV001785555
NM_001360.3(DHCR7):c.*119G>A	SNV Germline	Chr11:71435256	Conflicting classifications of pathogenicity	Smith-Lemli-Opitz syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10640023	rs_151230950	4 SubmittersRCV000361729 RCV001575569
NM_001360.3(DHCR7):c.1091C>T (p.Thr364Met)	SNV Germline	Chr11:71435712	Conflicting classifications of pathogenicity	Smith-Lemli-Opitz syndrome not specified Condition: not provided Inborn genetic diseases DHCR7-related disorder	Criteria Provided Conflicting Classifications	CA6162314	rs_567600444	9 SubmittersRCV000386515 RCV000503164 RCV000731830 RCV002314045 RCV003950037
NM_001360.3(DHCR7):c.1199G>A (p.Trp400Ter)	SNV Unknown	Chr11:71435604	Likely pathogenic	Smith-Lemli-Opitz syndrome	No Assertion Criteria Provided	CA16041545	rs_1057516493	1 SubmittersRCV000411064
NM_001360.3(DHCR7):c.991C>T (p.Gln331Ter)	SNV Germline	Chr11:71435812	Pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA16041548	rs_1057516610	2 SubmittersRCV000409015
NM_001360.3(DHCR7):c.981C>A (p.Tyr327Ter)	SNV Unknown	Chr11:71435822	Likely pathogenic	Smith-Lemli-Opitz syndrome	No Assertion Criteria Provided	CA16041549	rs_1057516375	1 SubmittersRCV000411396
NM_001360.3(DHCR7):c.963+2T>G	SNV Germline	Chr11:71437810	Pathogenic/Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16041550	rs_1057517070	3 SubmittersRCV000410293
NM_001360.3(DHCR7):c.963+1G>T	SNV Germline	Chr11:71437811	Pathogenic/Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16041551	rs_1057516973	3 SubmittersRCV000411265
NM_001360.3(DHCR7):c.831+2T>A	SNV Germline	Chr11:71438877	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA16041552	rs_1057516920	3 SubmittersRCV000409593
NM_001360.3(DHCR7):c.627-1G>A	SNV Germline	Chr11:71439084	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA16041554	rs_1057517210	3 SubmittersRCV000411331
NM_001360.3(DHCR7):c.413-1G>A	SNV Unknown	Chr11:71441441	Likely pathogenic	Smith-Lemli-Opitz syndrome	No Assertion Criteria Provided	CA16041555	rs_1057517307	1 SubmittersRCV000409542
NM_001360.3(DHCR7):c.82C>T (p.Gln28Ter)	SNV Germline	Chr11:71444871	Pathogenic/Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Multiple Submitters No Conflicts	CA6162713	rs_756564881	3 SubmittersRCV000411258
NM_001360.3(DHCR7):c.16C>T (p.Gln6Ter)	SNV Germline	Chr11:71444937	Pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA16041556	rs_1057516977	2 SubmittersRCV000411661
NM_001360.3(DHCR7):c.1011C>T (p.Ala337=)	SNV Germline	Chr11:71435792	Conflicting classifications of pathogenicity	not specified Condition: not provided Smith-Lemli-Opitz syndrome	Criteria Provided Conflicting Classifications	CA6162334	rs_369382960	4 SubmittersRCV000428469 RCV000734339 RCV001274174
NM_001360.3(DHCR7):c.440G>A (p.Gly147Asp)	SNV Germline	Chr11:71441413	Pathogenic/Likely pathogenic	Condition: not provided Smith-Lemli-Opitz syndrome	Criteria Provided Multiple Submitters No Conflicts	CA6162559	rs_777425801	9 SubmittersRCV000421810 RCV000665794
NM_001360.3(DHCR7):c.1328G>A (p.Arg443His)	SNV Germline	Chr11:71435475	Pathogenic/Likely pathogenic	Smith-Lemli-Opitz syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA6162261	rs_781687341	7 SubmittersRCV000449623 RCV002473005
NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala)	SNV Germline	Chr11:71444864	Conflicting classifications of pathogenicity	Smith-Lemli-Opitz syndrome Condition: not provided Inborn genetic diseases DHCR7-related disorder	Criteria Provided Conflicting Classifications	CA6162711	rs_200334114	13 SubmittersRCV000449598 RCV000728279 RCV002374732 RCV003418143
NM_001360.3(DHCR7):c.655T>G (p.Tyr219Asp)	SNV Germline	Chr11:71439055	Conflicting classifications of pathogenicity	Condition: not provided Smith-Lemli-Opitz syndrome not specified	Criteria Provided Conflicting Classifications	CA6162499	rs_779896782	7 SubmittersRCV000493359 RCV000668765 RCV002271516
NM_001360.3(DHCR7):c.1337G>A (p.Arg446Gln)	SNV Germline	Chr11:71435466	Pathogenic/Likely pathogenic	Condition: not provided Smith-Lemli-Opitz syndrome Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA6162258	rs_751604696	10 SubmittersRCV000498273 RCV000576656 RCV002311810
NM_001360.3(DHCR7):c.964-5C>T	SNV Germline	Chr11:71435844	Conflicting classifications of pathogenicity	not specified Smith-Lemli-Opitz syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6162348	rs_767108226	4 SubmittersRCV000507384 RCV002496966 RCV002527349
NM_001360.3(DHCR7):c.1406G>C (p.Arg469Pro)	SNV Germline	Chr11:71435397	Conflicting classifications of pathogenicity	Condition: not provided Smith-Lemli-Opitz syndrome DHCR7-related disorder	Criteria Provided Conflicting Classifications	CA6162236	rs_201150384	5 SubmittersRCV000519844 RCV000670231 RCV003392349
NM_001360.3(DHCR7):c.1018G>A (p.Val340Ile)	SNV Germline	Chr11:71435785	Conflicting classifications of pathogenicity	Smith-Lemli-Opitz syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6162332	rs_148081697	3 SubmittersRCV000551112 RCV002314950
NM_001360.3(DHCR7):c.970T>C (p.Tyr324His)	SNV Germline	Chr11:71435833	Pathogenic/Likely pathogenic	Smith-Lemli-Opitz syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA381702573	rs_1173707321	4 SubmittersRCV000525900 RCV001280755
NM_001360.3(DHCR7):c.470T>C (p.Leu157Pro)	SNV Germline	Chr11:71441383	Pathogenic/Likely pathogenic	Smith-Lemli-Opitz syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA6162556	rs_753960624	9 SubmittersRCV000578237 RCV000724648
NM_001360.3(DHCR7):c.123G>A (p.Ala41=)	SNV Germline	Chr11:71444191	Conflicting classifications of pathogenicity	Condition: not provided Smith-Lemli-Opitz syndrome	Criteria Provided Conflicting Classifications	CA6162684	rs_376263149	2 SubmittersRCV000597018 RCV001416167
NM_001360.3(DHCR7):c.882C>T (p.Thr294=)	SNV Germline	Chr11:71437893	Conflicting classifications of pathogenicity	Condition: not provided Smith-Lemli-Opitz syndrome	Criteria Provided Conflicting Classifications	CA6162408	rs_748858240	2 SubmittersRCV000596624 RCV001459056
NM_001360.3(DHCR7):c.670G>A (p.Glu224Lys)	SNV Germline	Chr11:71439040	Conflicting classifications of pathogenicity	Condition: not provided Smith-Lemli-Opitz syndrome	Criteria Provided Conflicting Classifications	CA6162492	rs_373121544	4 SubmittersRCV000596201 RCV000671914
NM_001360.3(DHCR7):c.862G>A (p.Glu288Lys)	SNV Germline	Chr11:71437913	Conflicting classifications of pathogenicity	Condition: not provided Smith-Lemli-Opitz syndrome Inborn genetic diseases DHCR7-related disorder	Criteria Provided Conflicting Classifications	CA6162412	rs_565893436	9 SubmittersRCV000593358 RCV000674146 RCV001267309 RCV004748841
NM_001360.3(DHCR7):c.723G>T (p.Gly241=)	SNV Germline	Chr11:71438987	Conflicting classifications of pathogenicity	Condition: not provided Smith-Lemli-Opitz syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6162480	rs_369654651	3 SubmittersRCV000597719 RCV001088762 RCV003302920
NM_001360.3(DHCR7):c.92G>A (p.Arg31His)	SNV Germline	Chr11:71444861	Conflicting classifications of pathogenicity	Condition: not provided not specified Smith-Lemli-Opitz syndrome	Criteria Provided Conflicting Classifications	CA6162708	rs_370307688	6 SubmittersRCV000594191 RCV001821731 RCV003617849
NM_001360.3(DHCR7):c.1410G>A (p.Leu470=)	SNV Germline	Chr11:71435393	Conflicting classifications of pathogenicity	Condition: not provided Smith-Lemli-Opitz syndrome Inborn genetic diseases DHCR7-related disorder	Criteria Provided Conflicting Classifications	CA6162233	rs_375993195	5 SubmittersRCV000592908 RCV001275364 RCV002315895 RCV003962723
NM_001360.3(DHCR7):c.288C>T (p.Ala96=)	SNV Germline	Chr11:71444026	Conflicting classifications of pathogenicity	Condition: not provided Smith-Lemli-Opitz syndrome Inborn genetic diseases DHCR7-related disorder	Criteria Provided Conflicting Classifications	CA6162646	rs_745595242	6 SubmittersRCV000595639 RCV001083941 RCV004024831 RCV004748848
NM_001360.3(DHCR7):c.412+4G>A	SNV Germline	Chr11:71442259	Conflicting classifications of pathogenicity	not specified Smith-Lemli-Opitz syndrome DHCR7-related disorder	Criteria Provided Conflicting Classifications	CA6162588	rs_776841323	3 SubmittersRCV000616541 RCV002532795 RCV003935697
NM_001360.3(DHCR7):c.1409T>A (p.Leu470Gln)	SNV Germline	Chr11:71435394	Pathogenic/Likely pathogenic	Inborn genetic diseases Smith-Lemli-Opitz syndrome	Criteria Provided Multiple Submitters No Conflicts	CA381700454	rs_1331331095	4 SubmittersRCV000622787 RCV000762863
NM_001360.3(DHCR7):c.1426T>A (p.Ter476Lys)	SNV Unknown	Chr11:71435377	Likely pathogenic	Smith-Lemli-Opitz syndrome	No Assertion Criteria Provided	CA381700381	rs_775034584	1 SubmittersRCV000674641
NM_001360.3(DHCR7):c.1349G>A (p.Arg450His)	SNV Germline	Chr11:71435454	Conflicting classifications of pathogenicity	Smith-Lemli-Opitz syndrome not specified Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA224323879	rs_542266962	7 SubmittersRCV000674850 RCV003226367 RCV002317913 RCV001556929
NM_001360.3(DHCR7):c.1210C>G (p.Arg404Gly)	SNV Germline	Chr11:71435593	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381701468	rs_61757582	2 SubmittersRCV000674716
NM_001360.3(DHCR7):c.1079T>C (p.Leu360Pro)	SNV Germline	Chr11:71435724	Pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381702131	rs_1555145619	2 SubmittersRCV000668758
NM_001360.3(DHCR7):c.1022T>C (p.Leu341Pro)	SNV Germline	Chr11:71435781	Conflicting classifications of pathogenicity	Smith-Lemli-Opitz syndrome Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA381702390	rs_1317526744	4 SubmittersRCV000666425 RCV002369797 RCV002510951
NM_001360.3(DHCR7):c.808A>G (p.Met270Val)	SNV Germline	Chr11:71438902	Pathogenic/Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Multiple Submitters No Conflicts	CA381703233	rs_1555146021	3 SubmittersRCV000672300
NM_001360.3(DHCR7):c.704T>C (p.Phe235Ser)	SNV Germline	Chr11:71439006	Pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381703447	rs_1555146061	2 SubmittersRCV000665754
NM_001360.3(DHCR7):c.521T>C (p.Phe174Ser)	SNV Germline	Chr11:71441332	Conflicting classifications of pathogenicity	Smith-Lemli-Opitz syndrome not specified	Criteria Provided Conflicting Classifications	CA6162542	rs_769218623	6 SubmittersRCV000670698 RCV001797780
NM_001360.3(DHCR7):c.413-2A>G	SNV Germline	Chr11:71441442	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Multiple Submitters No Conflicts	CA6162564	rs_775575609	4 SubmittersRCV000664497
NM_001360.3(DHCR7):c.326T>C (p.Leu109Pro)	SNV Germline	Chr11:71442349	Pathogenic/Likely pathogenic	Smith-Lemli-Opitz syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA224280150	rs_121912195	6 SubmittersRCV000665858 RCV001568654 RCV002442392
NM_001360.3(DHCR7):c.1327C>T (p.Arg443Cys)	SNV Germline	Chr11:71435476	Pathogenic/Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Multiple Submitters No Conflicts	CA6162263	rs_535561852	5 SubmittersRCV000673491
NM_001360.3(DHCR7):c.1277A>C (p.His426Pro)	SNV Germline	Chr11:71435526	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381701125	rs_1354718634	2 SubmittersRCV000669736
NM_001360.3(DHCR7):c.1222T>C (p.Tyr408His)	SNV Germline	Chr11:71435581	Pathogenic/Likely pathogenic	Smith-Lemli-Opitz syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA224324187	rs_1046560765	5 SubmittersRCV000667912 RCV003327443
NM_001360.3(DHCR7):c.1097G>T (p.Gly366Val)	SNV Germline	Chr11:71435706	Pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381702049	rs_1555145614	2 SubmittersRCV000666844
NM_001360.3(DHCR7):c.939G>A (p.Trp313Ter)	SNV Germline	Chr11:71437836	Pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381702926	rs_1555145862	2 SubmittersRCV000664491
NM_001360.3(DHCR7):c.861C>A (p.Asn287Lys)	SNV Germline	Chr11:71437914	Likely pathogenic	Smith-Lemli-Opitz syndrome DHCR7-related disorder	Criteria Provided Single Submitter	CA6162413	rs_766495775	3 SubmittersRCV000675015 RCV004748898
NM_001360.3(DHCR7):c.682C>T (p.Arg228Trp)	SNV Germline	Chr11:71439028	Conflicting classifications of pathogenicity	Smith-Lemli-Opitz syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA6162491	rs_775773057	6 SubmittersRCV000674773 RCV002282323 RCV001267993
NM_001360.3(DHCR7):c.296T>C (p.Leu99Pro)	SNV Germline	Chr11:71444018	Pathogenic/Likely pathogenic	Smith-Lemli-Opitz syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA6162643	rs_104886041	4 SubmittersRCV000668709 RCV000756013
NM_001360.3(DHCR7):c.1342G>C (p.Glu448Gln)	SNV Germline	Chr11:71435461	Conflicting classifications of pathogenicity	Smith-Lemli-Opitz syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA381700721	rs_80338864	5 SubmittersRCV000670693 RCV001556238 RCV002222595
NM_001360.3(DHCR7):c.1146C>A (p.Tyr382Ter)	SNV Germline	Chr11:71435657	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Multiple Submitters No Conflicts	CA381701822	rs_1555145605	5 SubmittersRCV000667423
NM_001360.3(DHCR7):c.915C>G (p.Tyr305Ter)	SNV Germline	Chr11:71437860	Pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381702981	rs_1555145867	2 SubmittersRCV000672544
NM_001360.3(DHCR7):c.894C>A (p.Cys298Ter)	SNV Unknown	Chr11:71437881	Likely pathogenic	Smith-Lemli-Opitz syndrome	No Assertion Criteria Provided	CA381703032	rs_769639753	1 SubmittersRCV000668079
NM_001360.3(DHCR7):c.870G>A (p.Trp290Ter)	SNV Germline	Chr11:71437905	Pathogenic/Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Multiple Submitters No Conflicts	CA6162410	rs_774187452	3 SubmittersRCV000667799
NM_001360.3(DHCR7):c.728C>G (p.Pro243Arg)	SNV Germline	Chr11:71438982	Pathogenic/Likely pathogenic	Smith-Lemli-Opitz syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA6162479	rs_777248132	4 SubmittersRCV000674586 RCV005414528
NM_001360.3(DHCR7):c.626+1G>T	SNV Germline	Chr11:71441226	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381694276	rs_1471145742	2 SubmittersRCV000673429
NM_001360.3(DHCR7):c.1376G>A (p.Trp459Ter)	SNV Germline	Chr11:71435427	Pathogenic/Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Multiple Submitters No Conflicts	CA381700586	rs_1555145550	3 SubmittersRCV000674614
NM_001360.3(DHCR7):c.1336C>T (p.Arg446Trp)	SNV Germline	Chr11:71435467	Conflicting classifications of pathogenicity	Smith-Lemli-Opitz syndrome Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA6162259	rs_145043679	4 SubmittersRCV000666265 RCV002530674 RCV004588093
NM_001360.3(DHCR7):c.1210C>A (p.Arg404Ser)	SNV Germline	Chr11:71435593	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Multiple Submitters No Conflicts	CA381701470	rs_61757582	4 SubmittersRCV000668128
NM_001360.3(DHCR7):c.858G>A (p.Trp286Ter)	SNV Unknown	Chr11:71437917	Likely pathogenic	Smith-Lemli-Opitz syndrome	No Assertion Criteria Provided	CA381703114	rs_1555145877	1 SubmittersRCV000671381
NM_001360.3(DHCR7):c.626+1G>C	SNV Unknown	Chr11:71441226	Likely pathogenic	Smith-Lemli-Opitz syndrome	No Assertion Criteria Provided	CA381694277	rs_1471145742	1 SubmittersRCV000673564
NM_001360.3(DHCR7):c.433A>C (p.Ile145Leu)	SNV Germline	Chr11:71441420	Pathogenic/Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Multiple Submitters No Conflicts	CA381694688	rs_1555146475	4 SubmittersRCV000674923
NM_001360.3(DHCR7):c.322-2A>G	SNV Unknown	Chr11:71442355	Likely pathogenic	Smith-Lemli-Opitz syndrome	No Assertion Criteria Provided	CA381695221	rs_1555146618	1 SubmittersRCV000674568
NM_001360.3(DHCR7):c.99-1G>C	SNV Germline	Chr11:71444216	Likely pathogenic	Smith-Lemli-Opitz syndrome	No Assertion Criteria Provided	CA381696766	rs_1451108193	2 SubmittersRCV000664963
NM_001360.3(DHCR7):c.1084C>T (p.Arg362Cys)	SNV Germline	Chr11:71435719	Conflicting classifications of pathogenicity	Condition: not provided Smith-Lemli-Opitz syndrome not specified	Criteria Provided Conflicting Classifications	CA6162319	rs_371302153	4 SubmittersRCV000681854 RCV002485579 RCV001844225
NM_001360.3(DHCR7):c.1190C>T (p.Ser397Leu)	SNV Germline	Chr11:71435613	Pathogenic/Likely pathogenic	Smith-Lemli-Opitz syndrome Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA6162291	rs_773134475	6 SubmittersRCV000805883 RCV002312433
NM_001360.3(DHCR7):c.226G>A (p.Val76Ile)	SNV Germline	Chr11:71444088	Conflicting classifications of pathogenicity	not specified Smith-Lemli-Opitz syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6162660	rs_368473756	6 SubmittersRCV000728546 RCV000882330 RCV001672935 RCV002316093
NM_001360.3(DHCR7):c.1087C>T (p.Arg363Cys)	SNV Germline	Chr11:71435716	Conflicting classifications of pathogenicity	Condition: not provided Smith-Lemli-Opitz syndrome Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA6162316	rs_547012639	7 SubmittersRCV000734205 RCV001825434 RCV002316028 RCV003155295
NM_001360.3(DHCR7):c.987C>T (p.Pro329=)	SNV Germline	Chr11:71435816	Conflicting classifications of pathogenicity	not specified Smith-Lemli-Opitz syndrome Condition: not provided Inborn genetic diseases DHCR7-related disorder	Criteria Provided Conflicting Classifications	CA6162344	rs_145901607	7 SubmittersRCV000730756 RCV000876229 RCV001619826 RCV002314445 RCV003918162
NM_001360.3(DHCR7):c.1005G>A (p.Pro335=)	SNV Germline	Chr11:71435798	Conflicting classifications of pathogenicity	Condition: not provided Smith-Lemli-Opitz syndrome	Criteria Provided Conflicting Classifications	CA6162336	rs_768765843	2 SubmittersRCV000728106 RCV002060967
NM_001360.3(DHCR7):c.957G>A (p.Thr319=)	SNV Germline	Chr11:71437818	Conflicting classifications of pathogenicity	Condition: not provided Smith-Lemli-Opitz syndrome DHCR7-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6162397	rs_200157761	4 SubmittersRCV000728646 RCV001468387 RCV003908022 RCV005328376
NM_001360.3(DHCR7):c.771G>A (p.Ala257=)	SNV Germline	Chr11:71438939	Conflicting classifications of pathogenicity	Condition: not provided Smith-Lemli-Opitz syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6162464	rs_200232012	4 SubmittersRCV000728929 RCV001472401 RCV004026961
NM_001360.3(DHCR7):c.318C>T (p.Phe106=)	SNV Germline	Chr11:71443996	Conflicting classifications of pathogenicity	Condition: not provided Smith-Lemli-Opitz syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA475519984	rs_1386646132	3 SubmittersRCV000729326 RCV001475008 RCV002325446
NM_001360.3(DHCR7):c.1155C>T (p.Ala385=)	SNV Germline	Chr11:71435648	Conflicting classifications of pathogenicity	Condition: not provided Smith-Lemli-Opitz syndrome Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA6162298	rs_777517985	5 SubmittersRCV000730127 RCV001079656 RCV002360854 RCV003155298
NM_001360.3(DHCR7):c.15G>A (p.Ser5=)	SNV Germline	Chr11:71444938	Conflicting classifications of pathogenicity	Condition: not provided Smith-Lemli-Opitz syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6162731	rs_147038941	5 SubmittersRCV000730405 RCV001081042 RCV002397509
NM_001360.3(DHCR7):c.902A>G (p.His301Arg)	SNV Germline	Chr11:71437873	Pathogenic/Likely pathogenic	Condition: not provided Smith-Lemli-Opitz syndrome	Criteria Provided Multiple Submitters No Conflicts	CA381703011	rs_1565586067	4 SubmittersRCV000730533 RCV001027946
NM_001360.3(DHCR7):c.795T>C (p.His265=)	SNV Germline	Chr11:71438915	Conflicting classifications of pathogenicity	Condition: not provided Smith-Lemli-Opitz syndrome	Criteria Provided Conflicting Classifications	CA475569396	rs_1472363309	2 SubmittersRCV000730593 RCV001393876
NM_001360.3(DHCR7):c.1152C>T (p.Ser384=)	SNV Germline	Chr11:71435651	Conflicting classifications of pathogenicity	Condition: not provided Smith-Lemli-Opitz syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6162300	rs_145084285	3 SubmittersRCV000730599 RCV001088788 RCV002343597
NM_001360.3(DHCR7):c.615C>T (p.Ser205=)	SNV Germline	Chr11:71441238	Conflicting classifications of pathogenicity	Condition: not provided Smith-Lemli-Opitz syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6162524	rs_561379509	3 SubmittersRCV000730833 RCV001476900 RCV004026999
NM_001360.3(DHCR7):c.1203C>T (p.Gly401=)	SNV Germline	Chr11:71435600	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Smith-Lemli-Opitz syndrome	Criteria Provided Conflicting Classifications	CA6162289	rs_368867929	3 SubmittersRCV000732800 RCV002343603 RCV002535292
NM_001360.3(DHCR7):c.963+7A>G	SNV Germline	Chr11:71437805	Conflicting classifications of pathogenicity	Condition: not provided Smith-Lemli-Opitz syndrome	Criteria Provided Conflicting Classifications	CA6162394	rs_775201083	2 SubmittersRCV000733096 RCV002067142
NM_001360.3(DHCR7):c.831+7G>A	SNV Germline	Chr11:71438872	Conflicting classifications of pathogenicity	Condition: not provided Smith-Lemli-Opitz syndrome DHCR7-related disorder	Criteria Provided Conflicting Classifications	CA600241269	rs_1318919210	3 SubmittersRCV000734126 RCV002067162 RCV003892667
NM_001360.3(DHCR7):c.429T>G (p.Tyr143Ter)	SNV Germline	Chr11:71441424	Likely pathogenic	Condition: not provided Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381694696	rs_1393186135	2 SubmittersRCV000760785 RCV001830661
NM_001360.3(DHCR7):c.546G>A (p.Trp182Ter)	SNV Germline	Chr11:71441307	Pathogenic/Likely pathogenic	Smith-Lemli-Opitz syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA224279792	rs_1032242817	6 SubmittersRCV000761593 RCV003166024
NM_001360.3(DHCR7):c.438T>G (p.Asn146Lys)	SNV Germline	Chr11:71441415	Pathogenic/Likely pathogenic	Smith-Lemli-Opitz syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA6162560	rs_949177	4 SubmittersRCV000779078 RCV003222128
NM_001360.3(DHCR7):c.651C>A (p.Tyr217Ter)	SNV Germline	Chr11:71439059	Pathogenic	Smith-Lemli-Opitz syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA6162500	rs_749076525	4 SubmittersRCV000781323 RCV001572260
NM_001360.3(DHCR7):c.907G>T (p.Gly303Trp)	SNV Germline	Chr11:71437868	Conflicting classifications of pathogenicity	Smith-Lemli-Opitz syndrome	Criteria Provided Conflicting Classifications	CA6162404	rs_142808899	3 SubmittersRCV000794082
NM_001360.3(DHCR7):c.852C>A (p.Phe284Leu)	SNV Germline	Chr11:71437923	Pathogenic/Likely pathogenic	Smith-Lemli-Opitz syndrome Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA224326709	rs_184297154	5 SubmittersRCV000815482 RCV002442731
NM_001360.3(DHCR7):c.1A>C (p.Met1Leu)	SNV Unknown	Chr11:71444952	Pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381697227	rs_104886033	1 SubmittersRCV000856756
NM_001360.3(DHCR7):c.765C>T (p.Phe255=)	SNV Germline	Chr11:71438945	Conflicting classifications of pathogenicity	Smith-Lemli-Opitz syndrome Condition: not provided Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA6162468	rs_200132007	9 SubmittersRCV001000753 RCV001546710 RCV002390816 RCV004782586
NM_001360.3(DHCR7):c.99-10G>A	SNV Germline	Chr11:71444225	Conflicting classifications of pathogenicity	Smith-Lemli-Opitz syndrome not specified Condition: not provided DHCR7-related disorder	Criteria Provided Conflicting Classifications	CA6162689	rs_189549129	7 SubmittersRCV000874722 RCV001193585 RCV001698674 RCV003948217
NM_001360.3(DHCR7):c.735C>T (p.Ile245=)	SNV Germline	Chr11:71438975	Conflicting classifications of pathogenicity	Smith-Lemli-Opitz syndrome Condition: not provided Inborn genetic diseases DHCR7-related disorder	Criteria Provided Conflicting Classifications	CA6162477	rs_12800	7 SubmittersRCV000882022 RCV001575090 RCV002382030 RCV003895411
NM_001360.3(DHCR7):c.322-7G>A	SNV Germline	Chr11:71442360	Conflicting classifications of pathogenicity	Smith-Lemli-Opitz syndrome	Criteria Provided Conflicting Classifications	CA679803182	rs_1359774813	2 SubmittersRCV001110850
NM_001360.3(DHCR7):c.1290C>G (p.Tyr430Ter)	SNV Germline	Chr11:71435513	Pathogenic/Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Multiple Submitters No Conflicts	CA6162269	rs_140791666	2 SubmittersRCV001004586
NM_001360.3(DHCR7):c.1219A>T (p.Asn407Tyr)	SNV Germline	Chr11:71435584	Pathogenic/Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Multiple Submitters No Conflicts	CA6162285	rs_770819693	4 SubmittersRCV001004587
NM_001360.3(DHCR7):c.1112G>A (p.Trp371Ter)	SNV Germline	Chr11:71435691	Pathogenic/Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Multiple Submitters No Conflicts	CA381702003	rs_1591107421	2 SubmittersRCV001004588
NM_001360.3(DHCR7):c.696G>A (p.Trp232Ter)	SNV Germline	Chr11:71439014	Pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Multiple Submitters No Conflicts	CA381703470	rs_1591109892	2 SubmittersRCV001004374
NM_001360.3(DHCR7):c.321G>C (p.Gln107His)	SNV Germline	Chr11:71443993	Conflicting classifications of pathogenicity	Smith-Lemli-Opitz syndrome	Criteria Provided Conflicting Classifications	CA6162641	rs_104886040	4 SubmittersRCV001004377
NM_001360.3(DHCR7):c.127G>A (p.Val43Ile)	SNV Germline	Chr11:71444187	Conflicting classifications of pathogenicity	Microcephaly Condition: not provided Smith-Lemli-Opitz syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6162683	rs_200984695	6 SubmittersRCV001252793 RCV002264993 RCV002481808 RCV002372729
NM_001360.3(DHCR7):c.1325A>G (p.His442Arg)	SNV Germline	Chr11:71435478	Conflicting classifications of pathogenicity	Smith-Lemli-Opitz syndrome not specified	Criteria Provided Conflicting Classifications	CA381700842	rs_1949265616	2 SubmittersRCV001059047 RCV005432557
NM_001360.3(DHCR7):c.1084C>G (p.Arg362Gly)	SNV Germline	Chr11:71435719	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381702106	rs_371302153	1 SubmittersRCV001048197
NM_001360.3(DHCR7):c.952T>A (p.Tyr318Asn)	SNV Germline	Chr11:71437823	Pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381702899	rs_1177326550	1 SubmittersRCV001048198
NM_001360.3(DHCR7):c.*226C>T	SNV Germline	Chr11:71435149	Conflicting classifications of pathogenicity	Smith-Lemli-Opitz syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA6162204	rs_185557595	3 SubmittersRCV001109993 RCV003222225
NM_001360.3(DHCR7):c.*28G>T	SNV Germline	Chr11:71435347	Conflicting classifications of pathogenicity	Smith-Lemli-Opitz syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA6162223	rs_114143715	2 SubmittersRCV001109999 RCV001571273
NM_001360.3(DHCR7):c.231C>G (p.Thr77=)	SNV Germline	Chr11:71444083	Conflicting classifications of pathogenicity	Smith-Lemli-Opitz syndrome	Criteria Provided Conflicting Classifications	CA475520511	rs_4316537	2 SubmittersRCV001112841
NM_001360.3(DHCR7):c.99-11C>T	SNV Germline	Chr11:71444226	Conflicting classifications of pathogenicity	Smith-Lemli-Opitz syndrome	Criteria Provided Conflicting Classifications	CA6162690	rs_371964662	2 SubmittersRCV001114197
NM_001360.3(DHCR7):c.501G>A (p.Trp167Ter)	SNV Germline	Chr11:71441352	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381694550	rs_1427321619	2 SubmittersRCV001193583
NM_001360.3(DHCR7):c.1218C>G (p.Phe406Leu)	SNV Germline	Chr11:71435585	Conflicting classifications of pathogenicity	Smith-Lemli-Opitz syndrome not specified Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA381701426	rs_1949268068	6 SubmittersRCV001207177 RCV001819896 RCV002509629 RCV005540299
NM_001360.3(DHCR7):c.627C>A (p.Cys209Ter)	SNV Unknown	Chr11:71439083	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381703982	rs_1949322246	1 SubmittersRCV001263646
NM_001360.3(DHCR7):c.388C>T (p.Gln130Ter)	SNV Germline	Chr11:71442287	Pathogenic/Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Multiple Submitters No Conflicts	CA381694867	rs_1949357136	2 SubmittersRCV001263930
NM_001360.3(DHCR7):c.300T>A (p.Tyr100Ter)	SNV Unknown	Chr11:71444014	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381695963	rs_1949375897	1 SubmittersRCV001263931
NM_001360.3(DHCR7):c.116C>G (p.Ser39Ter)	SNV Unknown	Chr11:71444198	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381696720	rs_1467346010	1 SubmittersRCV001263932
NM_001360.3(DHCR7):c.1221C>A (p.Asn407Lys)	SNV Germline	Chr11:71435582	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Multiple Submitters No Conflicts	CA381701409	rs_1481450955	2 SubmittersRCV001286268
NM_001360.3(DHCR7):c.322-1G>A	SNV Germline	Chr11:71442354	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Multiple Submitters No Conflicts	CA381695218	rs_1565588719	3 SubmittersRCV001328809
NM_001360.3(DHCR7):c.782A>G (p.Glu261Gly)	SNV Germline	Chr11:71438928	Conflicting classifications of pathogenicity	Smith-Lemli-Opitz syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA381703289	rs_1406131499	3 SubmittersRCV001343203 RCV001751671
NM_001360.3(DHCR7):c.1337G>C (p.Arg446Pro)	SNV Germline	Chr11:71435466	Conflicting classifications of pathogenicity	Smith-Lemli-Opitz syndrome	Criteria Provided Conflicting Classifications	CA381700763	rs_751604696	2 SubmittersRCV001378030
NM_001360.3(DHCR7):c.1328G>T (p.Arg443Leu)	SNV Germline	Chr11:71435475	Likely pathogenic	Smith-Lemli-Opitz syndrome Condition: not provided DHCR7-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA6162262	rs_781687341	3 SubmittersRCV001377821 RCV002291753 RCV003898362
NM_001360.3(DHCR7):c.1324C>G (p.His442Asp)	SNV Germline	Chr11:71435479	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381700849	rs_2135939533	1 SubmittersRCV001376981
NM_001360.3(DHCR7):c.374A>G (p.Tyr125Cys)	SNV Germline	Chr11:71442301	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381694941	rs_2135945513	1 SubmittersRCV001378034
NM_001360.3(DHCR7):c.1328G>C (p.Arg443Pro)	SNV Germline	Chr11:71435475	Pathogenic/Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Multiple Submitters No Conflicts	CA6162260	rs_781687341	2 SubmittersRCV001384493
NM_001360.3(DHCR7):c.1295A>G (p.Tyr432Cys)	SNV Germline	Chr11:71435508	Pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Multiple Submitters No Conflicts	CA381701018	rs_1565584679	2 SubmittersRCV001390625
NM_001360.3(DHCR7):c.739G>A (p.Ala247Thr)	SNV Germline	Chr11:71438971	Conflicting classifications of pathogenicity	Smith-Lemli-Opitz syndrome not specified	Criteria Provided Conflicting Classifications	CA6162474	rs_767031102	3 SubmittersRCV001387184 RCV003331145
NM_001360.3(DHCR7):c.600C>G (p.Tyr200Ter)	SNV Germline	Chr11:71441253	Pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381694339	rs_2135944550	1 SubmittersRCV001390320
NM_001360.3(DHCR7):c.545G>A (p.Trp182Ter)	SNV Germline	Chr11:71441308	Pathogenic/Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Multiple Submitters No Conflicts	CA6162538	rs_536394774	3 SubmittersRCV001387625
NM_001360.3(DHCR7):c.1354G>A (p.Ala452Thr)	SNV Germline	Chr11:71435449	Conflicting classifications of pathogenicity	not specified Condition: not provided Smith-Lemli-Opitz syndrome	Criteria Provided Conflicting Classifications	CA6162250	rs_140400648	5 SubmittersRCV001420836 RCV001664869 RCV001831472
NM_001360.3(DHCR7):c.548G>A (p.Cys183Tyr)	SNV Germline	Chr11:71441305	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Multiple Submitters No Conflicts	CA381694450	rs_2135944619	2 SubmittersRCV001808194
NM_001360.3(DHCR7):c.744G>A (p.Trp248Ter)	SNV Germline	Chr11:71438966	Pathogenic/Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Multiple Submitters No Conflicts	CA381703366	rs_104894212	2 SubmittersRCV001839372
NM_001360.3(DHCR7):c.739G>T (p.Ala247Ser)	SNV Germline	Chr11:71438971	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381703374	rs_767031102	1 SubmittersRCV001978000
NM_001360.3(DHCR7):c.727C>T (p.Pro243Ser)	SNV Germline	Chr11:71438983	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Multiple Submitters No Conflicts	CA381703395	rs_1329227520	2 SubmittersRCV002018898
NM_001360.3(DHCR7):c.977T>G (p.Val326Gly)	SNV Germline	Chr11:71435826	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381702554	rs_1333822866	1 SubmittersRCV001984345
NM_001360.3(DHCR7):c.953A>G (p.Tyr318Cys)	SNV Germline	Chr11:71437822	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381702895	rs_1457166572	1 SubmittersRCV001994199
NM_001360.3(DHCR7):c.322-1G>C	SNV Germline	Chr11:71442354	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381695216	rs_1565588719	1 SubmittersRCV001996273
NM_001360.3(DHCR7):c.1294T>C (p.Tyr432His)	SNV Germline	Chr11:71435509	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA6162267	rs_747656720	1 SubmittersRCV002006640
NM_001360.3(DHCR7):c.821A>C (p.Asn274Thr)	SNV Germline	Chr11:71438889	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA6162452	rs_774275482	1 SubmittersRCV001971809
NM_001360.3(DHCR7):c.1220A>G (p.Asn407Ser)	SNV Germline	Chr11:71435583	Pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA6162284	rs_746591926	1 SubmittersRCV001942267
NM_001360.3(DHCR7):c.1083C>G (p.Phe361Leu)	SNV Germline	Chr11:71435720	Conflicting classifications of pathogenicity	Smith-Lemli-Opitz syndrome not specified	Criteria Provided Conflicting Classifications	CA381702110	rs_780088227	2 SubmittersRCV001946599 RCV004690197
NM_001360.3(DHCR7):c.1085G>A (p.Arg362His)	SNV Germline	Chr11:71435718	Conflicting classifications of pathogenicity	Smith-Lemli-Opitz syndrome DHCR7-related disorder	Criteria Provided Conflicting Classifications	CA6162317	rs_142213147	5 SubmittersRCV001971954 RCV004749793
NM_001360.3(DHCR7):c.925G>A (p.Gly309Ser)	SNV Germline	Chr11:71437850	Pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381702959	rs_2135941811	1 SubmittersRCV001972753
NM_001360.3(DHCR7):c.822C>A (p.Asn274Lys)	SNV Germline	Chr11:71438888	Pathogenic/Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Multiple Submitters No Conflicts	CA6162451	rs_139787408	2 SubmittersRCV001972754
NM_001360.3(DHCR7):c.575C>T (p.Ser192Phe)	SNV Germline	Chr11:71441278	Conflicting classifications of pathogenicity	Smith-Lemli-Opitz syndrome not specified	Criteria Provided Conflicting Classifications	CA6162531	rs_766299724	2 SubmittersRCV001949400 RCV004770316
NM_001360.3(DHCR7):c.1228G>C (p.Gly410Arg)	SNV Germline	Chr11:71435575	Pathogenic/Likely pathogenic	Smith-Lemli-Opitz syndrome DHCR7-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA381701371	rs_80338862	5 SubmittersRCV001972582 RCV003418255
NM_001360.3(DHCR7):c.1223A>T (p.Tyr408Phe)	SNV Germline	Chr11:71435580	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381701397	rs_1219026826	1 SubmittersRCV002006262
NM_001360.3(DHCR7):c.1360A>T (p.Lys454Ter)	SNV Germline	Chr11:71435443	Pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381700648	rs_2135939478	1 SubmittersRCV001896349
NM_001360.3(DHCR7):c.1424T>C (p.Phe475Ser)	SNV Germline	Chr11:71435379	Conflicting classifications of pathogenicity	Smith-Lemli-Opitz syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA381700390	rs_1478872904	4 SubmittersRCV002023987 RCV002463105 RCV003388085
NM_001360.3(DHCR7):c.322-9G>A	SNV Germline	Chr11:71442362	Conflicting classifications of pathogenicity	Smith-Lemli-Opitz syndrome	Criteria Provided Conflicting Classifications	CA2573147616	rs_2135945639	2 SubmittersRCV002147004
NM_001360.3(DHCR7):c.1254C>T (p.Tyr418=)	SNV Germline	Chr11:71435549	Conflicting classifications of pathogenicity	Smith-Lemli-Opitz syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA475860997	rs_1949267339	2 SubmittersRCV002153625 RCV003886568
NM_001360.3(DHCR7):c.1211G>A (p.Arg404His)	SNV Germline	Chr11:71435592	Likely pathogenic	Condition: not provided Smith-Lemli-Opitz syndrome	Criteria Provided Multiple Submitters No Conflicts	CA381701465	rs_1949268223	2 SubmittersRCV002211197 RCV003507402
NM_001360.3(DHCR7):c.197G>A (p.Cys66Tyr)	SNV Germline	Chr11:71444117	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381696534	rs_2120355008	1 SubmittersRCV002249025
NM_001360.3(DHCR7):c.1351T>C (p.Cys451Arg)	SNV Germline	Chr11:71435452	Pathogenic/Likely pathogenic	Smith-Lemli-Opitz syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA6162251	rs_761458977	4 SubmittersRCV002289056 RCV003154241
NM_001360.3(DHCR7):c.473G>A (p.Trp158Ter)	SNV Germline	Chr11:71441380	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381694608	rs_1343783336	1 SubmittersRCV002308585
NM_001360.3(DHCR7):c.567T>A (p.Tyr189Ter)	SNV Unknown	Chr11:71441286	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381694407	rs_2539227728	1 SubmittersRCV002309936
NM_001360.3(DHCR7):c.305T>A (p.Leu102Ter)	SNV Unknown	Chr11:71444009	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381695940	rs_1342235041	1 SubmittersRCV002310196
NM_001360.3(DHCR7):c.439G>A (p.Gly147Ser)	SNV Germline	Chr11:71441414	Conflicting classifications of pathogenicity	Inborn genetic diseases Smith-Lemli-Opitz syndrome	Criteria Provided Conflicting Classifications	CA381694674	rs_1248898751	2 SubmittersRCV002333704 RCV005002827
NM_001360.3(DHCR7):c.1397T>C (p.Val466Ala)	SNV Germline	Chr11:71435406	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381700493	rs_2539207660	1 SubmittersRCV003062426
NM_001360.3(DHCR7):c.1039G>A (p.Gly347Ser)	SNV Germline	Chr11:71435764	Pathogenic	Smith-Lemli-Opitz syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA381702314	rs_2135940013	2 SubmittersRCV003062427 RCV005433302
NM_001360.3(DHCR7):c.818T>G (p.Val273Gly)	SNV Germline	Chr11:71438892	Conflicting classifications of pathogenicity	Smith-Lemli-Opitz syndrome not specified	Criteria Provided Conflicting Classifications	CA381703209	rs_2539220754	2 SubmittersRCV003062429 RCV003235759
NM_001360.3(DHCR7):c.683G>A (p.Arg228Gln)	SNV Germline	Chr11:71439027	Conflicting classifications of pathogenicity	Smith-Lemli-Opitz syndrome	Criteria Provided Conflicting Classifications	CA6162490	rs_201556114	2 SubmittersRCV003062430
NM_001360.3(DHCR7):c.533T>A (p.Ile178Asn)	SNV Germline	Chr11:71441320	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381694480	rs_2539227981	1 SubmittersRCV003058338
NM_001360.3(DHCR7):c.952T>C (p.Tyr318His)	SNV Germline	Chr11:71437823	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381702898	rs_1177326550	1 SubmittersRCV003071562
NM_001360.3(DHCR7):c.249G>A (p.Ser83=)	SNV Germline	Chr11:71444065	Conflicting classifications of pathogenicity	Smith-Lemli-Opitz syndrome	Criteria Provided Conflicting Classifications	CA6162653	rs_759192320	2 SubmittersRCV003085460
NM_001360.3(DHCR7):c.1348C>T (p.Arg450Cys)	SNV Germline	Chr11:71435455	Likely pathogenic	Smith-Lemli-Opitz syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA6162254	rs_765154144	2 SubmittersRCV002587904 RCV005434003
NM_001360.3(DHCR7):c.88G>A (p.Gly30Ser)	SNV Germline	Chr11:71444865	Conflicting classifications of pathogenicity	Smith-Lemli-Opitz syndrome	Criteria Provided Conflicting Classifications	CA381696867	rs_1222259994	2 SubmittersRCV002632114
NM_001360.3(DHCR7):c.1040G>T (p.Gly347Val)	SNV Germline	Chr11:71435763	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA6162329	rs_770174208	1 SubmittersRCV002775319
NM_001360.3(DHCR7):c.1404C>G (p.Tyr468Ter)	SNV Germline	Chr11:71435399	Pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381700465	rs_1949262812	1 SubmittersRCV002797174
NM_001360.3(DHCR7):c.474G>A (p.Trp158Ter)	SNV Germline	Chr11:71441379	Pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381694605	rs_766443353	1 SubmittersRCV002871775
NM_001360.3(DHCR7):c.546G>T (p.Trp182Cys)	SNV Germline	Chr11:71441307	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381694454	rs_1032242817	1 SubmittersRCV002867733
NM_001360.3(DHCR7):c.725G>C (p.Arg242Pro)	SNV Germline	Chr11:71438985	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Multiple Submitters No Conflicts	CA381703399	rs_80338857	2 SubmittersRCV002894712
NM_001360.3(DHCR7):c.412+2T>C	SNV Germline	Chr11:71442261	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381694739	rs_2539231409	1 SubmittersRCV003029615
NM_001360.3(DHCR7):c.1385A>G (p.Tyr462Cys)	SNV Germline	Chr11:71435418	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381700543	rs_2135939447	1 SubmittersRCV003054609
NM_001360.3(DHCR7):c.1113G>A (p.Trp371Ter)	SNV Germline	Chr11:71435690	Pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381701992	rs_1294449428	1 SubmittersRCV003066242
NM_001360.3(DHCR7):c.99G>A (p.Trp33Ter)	SNV Unknown	Chr11:71444215	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381696764	rs_2539237303	1 SubmittersRCV003148487
NM_001360.3(DHCR7):c.911G>A (p.Trp304Ter)	SNV Germline	Chr11:71437864	Pathogenic/Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Multiple Submitters No Conflicts	CA381702993	rs_2539216620	2 SubmittersRCV003225697
NM_001360.3(DHCR7):c.248C>A (p.Ser83Ter)	SNV Germline	Chr11:71444066	Pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381696328	rs_764847274	1 SubmittersRCV003508112
NM_001360.3(DHCR7):c.908G>A (p.Gly303Glu)	SNV Germline	Chr11:71437867	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381702999	rs_2539216631	1 SubmittersRCV003508418
NM_001360.3(DHCR7):c.187C>T (p.Gln63Ter)	SNV Germline	Chr11:71444127	Pathogenic/Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Multiple Submitters No Conflicts	CA381696573	rs_1372014207	2 SubmittersRCV003508253
NM_001360.3(DHCR7):c.89G>A (p.Gly30Asp)	SNV Germline	Chr11:71444864	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381696865	rs_200334114	1 SubmittersRCV003508456
NM_001360.3(DHCR7):c.877A>T (p.Lys293Ter)	SNV Germline	Chr11:71437898	Pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381703070	rs_1591109039	1 SubmittersRCV003508828
NM_001360.3(DHCR7):c.901C>A (p.His301Asn)	SNV Germline	Chr11:71437874	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381703014	rs_1267495194	1 SubmittersRCV003508913
NM_001360.3(DHCR7):c.986C>T (p.Pro329Leu)	SNV Germline	Chr11:71435817	Pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381702529	rs_2539210698	1 SubmittersRCV003508852
NM_001360.3(DHCR7):c.546G>C (p.Trp182Cys)	SNV Germline	Chr11:71441307	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381694455	rs_1032242817	1 SubmittersRCV003508853
NM_001360.3(DHCR7):c.373T>C (p.Tyr125His)	SNV Germline	Chr11:71442302	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381694948	rs_1949357539	1 SubmittersRCV003506797
NM_001360.3(DHCR7):c.862G>T (p.Glu288Ter)	SNV Germline	Chr11:71437913	Pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381703104	rs_565893436	1 SubmittersRCV003507120
NM_001360.3(DHCR7):c.725G>T (p.Arg242Leu)	SNV Germline	Chr11:71438985	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381703398	rs_80338857	1 SubmittersRCV003506943
NM_001360.3(DHCR7):c.817G>A (p.Val273Ile)	SNV Germline	Chr11:71438893	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381703214	rs_2539220764	1 SubmittersRCV003507969
NM_001360.3(DHCR7):c.1365C>A (p.Tyr455Ter)	SNV Germline	Chr11:71435438	Pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381700622	rs_557097410	1 SubmittersRCV003507798
NM_001360.3(DHCR7):c.110G>A (p.Trp37Ter)	SNV Germline	Chr11:71444204	Pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381696736	rs_2539237238	1 SubmittersRCV003618108
NM_001360.3(DHCR7):c.1399C>T (p.Pro467Ser)	SNV Germline	Chr11:71435404	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381700486	rs_750211727	1 SubmittersRCV003618208
NM_001360.3(DHCR7):c.907G>C (p.Gly303Arg)	SNV Germline	Chr11:71437868	Pathogenic/Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Multiple Submitters No Conflicts	CA381703000	rs_142808899	3 SubmittersRCV003618247
NM_001360.3(DHCR7):c.1224C>G (p.Tyr408Ter)	SNV Germline	Chr11:71435579	Pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381701393	rs_777148033	1 SubmittersRCV003618213
NM_001360.3(DHCR7):c.1352G>T (p.Cys451Phe)	SNV Germline	Chr11:71435451	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381700677	rs_1325144749	1 SubmittersRCV003618289
NM_001360.3(DHCR7):c.770C>G (p.Ala257Gly)	SNV Germline	Chr11:71438940	Pathogenic/Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Multiple Submitters No Conflicts	CA381703312	rs_770925697	2 SubmittersRCV003618308
NM_001360.3(DHCR7):c.964-2A>C	SNV Germline	Chr11:71435841	Pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381702596	rs_2539210878	1 SubmittersRCV003618388
NM_001360.3(DHCR7):c.904T>G (p.Phe302Val)	SNV Germline	Chr11:71437871	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381703006	rs_2539216665	1 SubmittersRCV003618420
NM_001360.3(DHCR7):c.375C>G (p.Tyr125Ter)	SNV Germline	Chr11:71442300	Pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381694936	rs_779401555	1 SubmittersRCV003618647
NM_001360.3(DHCR7):c.926G>A (p.Gly309Asp)	SNV Germline	Chr11:71437849	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381702956	rs_1565586046	1 SubmittersRCV003618525
NM_001360.3(DHCR7):c.152C>T (p.Pro51Leu)	SNV Germline	Chr11:71444162	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381696652	rs_1949379416	1 SubmittersRCV003618571
NM_001360.3(DHCR7):c.838T>G (p.Tyr280Asp)	SNV Germline	Chr11:71437937	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381703160	rs_2539217163	1 SubmittersRCV003617491
NM_001360.3(DHCR7):c.375C>A (p.Tyr125Ter)	SNV Germline	Chr11:71442300	Pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381694934	rs_779401555	1 SubmittersRCV003617543
NM_001360.3(DHCR7):c.76C>T (p.Gln26Ter)	SNV Germline	Chr11:71444877	Pathogenic/Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Multiple Submitters No Conflicts	CA381696893	rs_1949389789	2 SubmittersRCV003617668
NM_001360.3(DHCR7):c.651C>G (p.Tyr217Ter)	SNV Germline	Chr11:71439059	Pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381703659	rs_749076525	1 SubmittersRCV003617751
NM_001360.3(DHCR7):c.278C>A (p.Thr93Lys)	SNV Germline	Chr11:71444036	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381696172	rs_80338853	1 SubmittersRCV003829575
NM_001360.3(DHCR7):c.98+1G>T	SNV Germline	Chr11:71444854	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter	CA381696847	rs_2539239056	1 SubmittersRCV003853217
NM_001360.3(DHCR7):c.413-12C>T	SNV Germline	Chr11:71441452	Conflicting classifications of pathogenicity	Smith-Lemli-Opitz syndrome	Criteria Provided Conflicting Classifications	CA6162565	rs_762754951	2 SubmittersRCV003877011
NM_001360.3(DHCR7):c.1327C>G (p.Arg443Gly)	SNV Germline	Chr11:71435476	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Multiple Submitters No Conflicts	CA381700830	rs_535561852	2 SubmittersRCV004526570
NM_001360.3(DHCR7):c.963+1G>A	SNV Germline	Chr11:71437811	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV004690676
NM_001360.3(DHCR7):c.1349G>T (p.Arg450Leu)	SNV Germline	Chr11:71435454	Pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005006671
NM_001360.3(DHCR7):c.831+1G>T	SNV Germline	Chr11:71438878	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005006676
NM_001360.3(DHCR7):c.523G>C (p.Asp175His)	SNV Germline	Chr11:71441330	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005006682
NM_001360.3(DHCR7):c.98+1G>C	SNV Germline	Chr11:71444854	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005004675
NM_001360.3(DHCR7):c.98+2T>C	SNV Germline	Chr11:71444853	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005130324
NM_001360.3(DHCR7):c.938G>A (p.Trp313Ter)	SNV Germline	Chr11:71437837	Pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005185238
NM_001360.3(DHCR7):c.1211G>T (p.Arg404Leu)	SNV Germline	Chr11:71435592	Likely pathogenic	Smith-Lemli-Opitz syndrome	Criteria Provided Single Submitter			2 SubmittersRCV005200700
NM_001360.3(DHCR7):c.963+1G>C	SNV Germline	Chr11:71437811	Likely pathogenic	Smith-Lemli-Opitz syndrome	No Assertion Criteria Provided			1 SubmittersRCV005619137
NM_001360.3(DHCR7):c.906C>A (p.Phe302Leu)	SNV Germline	Chr11:71437869	Likely pathogenic	Smith-Lemli-Opitz syndrome	No Assertion Criteria Provided			1 SubmittersRCV005619187

NM_001360.3(DHCR7):c.356A>T (p.His119Leu)

SNV
Germline

Chr11:71442319

Conflicting classifications of pathogenicity

Smith-Lemli-Opitz syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA253936

rs_28938174

5 SubmittersRCV000007182 RCV000274996 RCV004585991

NM_001360.3(DHCR7):c.730G>A (p.Gly244Arg)

SNV
Germline

Chr11:71438980

Pathogenic/Likely pathogenic

Smith-Lemli-Opitz syndrome
Condition: not provided
DHCR7-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA253939

rs_121909764

9 SubmittersRCV000007183 RCV001804715 RCV004748505

NM_001360.3(DHCR7):c.744G>T (p.Trp248Cys)

SNV
Germline

Chr11:71438966

Pathogenic

Smith-Lemli-Opitz syndrome

No Assertion Criteria Provided

CA253942

rs_104894212

1 SubmittersRCV000007184

NM_001360.3(DHCR7):c.278C>T (p.Thr93Met)

SNV
Germline

Chr11:71444036

Pathogenic/Likely pathogenic

Smith-Lemli-Opitz syndrome
Condition: not provided
Abnormal brain morphology
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA221665

rs_80338853

17 SubmittersRCV000007185 RCV000079651 RCV000454251 RCV003985253

NM_001360.3(DHCR7):c.453G>A (p.Trp151Ter)

SNV
Germline

Chr11:71441400

Pathogenic

Smith-Lemli-Opitz syndrome

No Assertion Criteria Provided

CA253945

rs_104894213

1 SubmittersRCV000007186

NM_001360.3(DHCR7):c.976G>T (p.Val326Leu)

SNV
Germline

Chr11:71435827

Pathogenic/Likely pathogenic

Smith-Lemli-Opitz syndrome
Condition: not provided
DHCR7-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA340609

rs_80338859

13 SubmittersRCV000007187 RCV001550331 RCV004748506

NM_001360.3(DHCR7):c.1054C>T (p.Arg352Trp)

SNV
Germline

Chr11:71435749

Pathogenic

Smith-Lemli-Opitz syndrome
Microcephaly
Condition: not provided
DHCR7-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA340612

rs_80338860

14 SubmittersRCV000007189 RCV001252750 RCV000259783 RCV003934805

NM_001360.3(DHCR7):c.1210C>T (p.Arg404Cys)

SNV
Germline

Chr11:71435593

Pathogenic

Smith-Lemli-Opitz syndrome
Condition: not provided
Inborn genetic diseases
DHCR7-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA340615

rs_61757582

14 SubmittersRCV000007190 RCV000723830 RCV001266513 RCV003407290

NM_001360.3(DHCR7):c.866C>T (p.Thr289Ile)

SNV
Germline

Chr11:71437909

Pathogenic/Likely pathogenic

Smith-Lemli-Opitz syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA253946

rs_121909765

9 SubmittersRCV000007191 RCV000412788 RCV002371766

NM_001360.3(DHCR7):c.839A>G (p.Tyr280Cys)

SNV
Germline

Chr11:71437936

Pathogenic/Likely pathogenic

Smith-Lemli-Opitz syndrome
DHCR7-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA253949

rs_121909766

3 SubmittersRCV000007192 RCV003407291

NM_001360.3(DHCR7):c.3G>A (p.Met1Ile)

SNV
Germline

Chr11:71444950

Pathogenic/Likely pathogenic

Smith-Lemli-Opitz syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA118510

rs_121909767

9 SubmittersRCV000169218 RCV001528227

NM_001360.3(DHCR7):c.1342G>A (p.Glu448Lys)

SNV
Germline

Chr11:71435461

Pathogenic/Likely pathogenic

Smith-Lemli-Opitz syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA118513

rs_80338864

13 SubmittersRCV000020435 RCV000790762

NM_001360.3(DHCR7):c.1A>G (p.Met1Val)

SNV
Germline

Chr11:71444952

Pathogenic/Likely pathogenic

Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases
DHCR7-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA118516

rs_104886033

19 SubmittersRCV000224026 RCV000169384 RCV001267308 RCV003390651

NM_001360.3(DHCR7):c.1055G>A (p.Arg352Gln)

SNV
Germline

Chr11:71435748

Pathogenic

Smith-Lemli-Opitz syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA253952

rs_121909768

10 SubmittersRCV000007197 RCV000254828

NM_001360.3(DHCR7):c.1228G>A (p.Gly410Ser)

SNV
Germline

Chr11:71435575

Pathogenic

Smith-Lemli-Opitz syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA221650

rs_80338862

14 SubmittersRCV000020434 RCV000079640 RCV002316198

NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter)

SNV
Germline

Chr11:71441401

Pathogenic/Likely pathogenic

Smith-Lemli-Opitz syndrome
Condition: not provided
Inborn genetic diseases
DHCR7-related disorder
Elevated circulating 7-dehydrocholesterol concentration
Small for gestational age
2-3 toe syndactyly
Primary microcephaly

Criteria Provided
Multiple Submitters
No Conflicts

CA221671

rs_11555217

37 SubmittersRCV000020436 RCV000079655 RCV002336089 RCV003415725 RCV000414879

NM_001360.3(DHCR7):c.506C>T (p.Ser169Leu)

SNV
Germline

Chr11:71441347

Pathogenic/Likely pathogenic

Smith-Lemli-Opitz syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA341824

rs_80338855

11 SubmittersRCV000020437 RCV001818169 RCV002345251

NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys)

SNV
Germline

Chr11:71438986

Pathogenic/Likely pathogenic

Smith-Lemli-Opitz syndrome
DHCR7-related disorder
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA341827

rs_80338856

16 SubmittersRCV000020438 RCV004748531 RCV000389331 RCV002371778

NM_001360.3(DHCR7):c.725G>A (p.Arg242His)

SNV
Germline

Chr11:71438985

Pathogenic/Likely pathogenic

Smith-Lemli-Opitz syndrome
Condition: not provided
DHCR7-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA341830

rs_80338857

15 SubmittersRCV000020439 RCV001529736 RCV004748532

NM_001360.3(DHCR7):c.906C>G (p.Phe302Leu)

SNV
Germline

Chr11:71437869

Pathogenic/Likely pathogenic

Smith-Lemli-Opitz syndrome
Inborn genetic diseases
DHCR7-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA341833

rs_80338858

9 SubmittersRCV000020440 RCV002371779 RCV004748533

NM_001360.3(DHCR7):c.412+3A>T

SNV
Germline

Chr11:71442260

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA259777

rs_786200926

3 SubmittersRCV000023212

NM_001360.3(DHCR7):c.1012G>A (p.Val338Met)

SNV
Germline

Chr11:71435791

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases
DHCR7-related disorder

Criteria Provided
Conflicting Classifications

CA221647

rs_72954276

9 SubmittersRCV000079638 RCV000585931 RCV001027947 RCV002313764 RCV003915058

NM_001360.3(DHCR7):c.1368C>T (p.Gly456=)

SNV
Germline

Chr11:71435435

Conflicting classifications of pathogenicity

Smith-Lemli-Opitz syndrome
not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA221653

rs_144562471

9 SubmittersRCV000261724 RCV000247087 RCV000723626 RCV002316237

NM_001360.3(DHCR7):c.1384T>C (p.Tyr462His)

SNV
Germline

Chr11:71435419

Conflicting classifications of pathogenicity

Condition: not provided
Smith-Lemli-Opitz syndrome

Criteria Provided
Conflicting Classifications

CA221656

rs_201270451

4 SubmittersRCV000079645 RCV000411557

NM_001360.3(DHCR7):c.151C>T (p.Pro51Ser)

SNV
Germline

Chr11:71444163

Pathogenic

Condition: not provided
Smith-Lemli-Opitz syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA221659

rs_104886035

6 SubmittersRCV000079646 RCV000178160

NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr)

SNV
Germline

Chr11:71444115

Conflicting classifications of pathogenicity

Smith-Lemli-Opitz syndrome
Condition: not provided
Inborn genetic diseases
not specified
DHCR7-related disorder

Criteria Provided
Conflicting Classifications

CA221662

rs_143999854

14 SubmittersRCV000509217 RCV000681711 RCV002313765 RCV003987353 RCV003415846

NM_001360.3(DHCR7):c.321+10C>T

SNV
Germline

Chr11:71443983

Conflicting classifications of pathogenicity

not specified
Smith-Lemli-Opitz syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA147248

rs_377108406

10 SubmittersRCV000079652 RCV000999843 RCV001705739

NM_001360.3(DHCR7):c.400G>T (p.Val134Leu)

SNV
Germline

Chr11:71442275

Conflicting classifications of pathogenicity

Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA221668

rs_201466849

8 SubmittersRCV000079653 RCV000674435 RCV002354276 RCV004700393

NM_001360.3(DHCR7):c.485C>T (p.Ala162Val)

SNV
Germline

Chr11:71441368

Conflicting classifications of pathogenicity

Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA221674

rs_398123606

6 SubmittersRCV000079656 RCV001274683 RCV002313766

NM_001360.3(DHCR7):c.69C>T (p.Thr23=)

SNV
Germline

Chr11:71444884

Conflicting classifications of pathogenicity

Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases
DHCR7-related disorder

Criteria Provided
Conflicting Classifications

CA221677

rs_199798127

5 SubmittersRCV000079658 RCV001439438 RCV002362726 RCV003935033

NM_001360.3(DHCR7):c.70G>T (p.Ala24Ser)

SNV
Germline

Chr11:71444883

Conflicting classifications of pathogenicity

not specified
Smith-Lemli-Opitz syndrome
Condition: not provided
Inborn genetic diseases
DHCR7-related disorder

Criteria Provided
Conflicting Classifications

CA147253

rs_146867923

9 SubmittersRCV000079659 RCV000380891 RCV001554963 RCV002313767 RCV003925050

NM_001360.3(DHCR7):c.841G>A (p.Val281Met)

SNV
Germline

Chr11:71437934

Pathogenic/Likely pathogenic

Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases
DHCR7-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA221680

rs_398123607

12 SubmittersRCV000079660 RCV000180218 RCV000624268 RCV003935034

NM_001360.3(DHCR7):c.964-1G>C

SNV
Germline

Chr11:71435840

Pathogenic/Likely pathogenic

Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases
See cases
DHCR7-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA090917

rs_138659167

58 SubmittersRCV000079661 RCV000180570 RCV000623789 RCV002251968 RCV003390775

NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg)

SNV
Germline

Chr11:71441392

Pathogenic/Likely pathogenic

Smith-Lemli-Opitz syndrome
Condition: not provided
Inborn genetic diseases
DHCR7-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA233884

rs_143312232

16 SubmittersRCV000179381 RCV000790776 RCV002312988 RCV003917496

NM_001360.3(DHCR7):c.208G>A (p.Gly70Ser)

SNV
Germline

Chr11:71444106

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases
DHCR7-related disorder

Criteria Provided
Conflicting Classifications

CA233887

rs_144512551

8 SubmittersRCV000153144 RCV000897661 RCV001487990 RCV002415645 RCV003917497

NM_001360.3(DHCR7):c.126C>T (p.Ser42=)

SNV
Germline

Chr11:71444188

Conflicting classifications of pathogenicity

not specified
Smith-Lemli-Opitz syndrome
Condition: not provided
Inborn genetic diseases
DHCR7-related disorder

Criteria Provided
Conflicting Classifications

CA233407

rs_150928869

13 SubmittersRCV000152714 RCV000633529 RCV001657862 RCV002316959 RCV003975191

NM_001360.3(DHCR7):c.1092G>A (p.Thr364=)

SNV
Germline

Chr11:71435711

Conflicting classifications of pathogenicity

not specified
Smith-Lemli-Opitz syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA179963

rs_35946774

8 SubmittersRCV000153140 RCV000332036 RCV001706018 RCV002312674

NM_001360.3(DHCR7):c.522C>T (p.Phe174=)

SNV
Germline

Chr11:71441331

Conflicting classifications of pathogenicity

Condition: not provided
Smith-Lemli-Opitz syndrome

Criteria Provided
Conflicting Classifications

CA233881

rs_140648594

4 SubmittersRCV000153142 RCV001087960

NM_001360.3(DHCR7):c.1426T>C (p.Ter476Gln)

SNV
Germline

Chr11:71435377

Conflicting classifications of pathogenicity

Smith-Lemli-Opitz syndrome

Criteria Provided
Conflicting Classifications

CA274163

rs_775034584

3 SubmittersRCV000169316

NM_001360.3(DHCR7):c.1139G>A (p.Cys380Tyr)

SNV
Germline

Chr11:71435664

Pathogenic/Likely pathogenic

Smith-Lemli-Opitz syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA274343

rs_779709646

8 SubmittersRCV000169472 RCV001171660 RCV002453569

NM_001360.3(DHCR7):c.461C>T (p.Thr154Met)

SNV
Germline

Chr11:71441392

Pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA274131

rs_143312232

7 SubmittersRCV000169290

NM_001360.3(DHCR7):c.292C>T (p.Gln98Ter)

SNV
Germline

Chr11:71444022

Pathogenic

Smith-Lemli-Opitz syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA273887

rs_104886039

9 SubmittersRCV000169020 RCV000489856 RCV005549916

NM_001360.3(DHCR7):c.111G>A (p.Trp37Ter)

SNV
Germline

Chr11:71444203

Pathogenic/Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA274449

rs_750345068

5 SubmittersRCV000169596

NM_001360.3(DHCR7):c.28C>G (p.Pro10Ala)

SNV
Germline

Chr11:71444925

Conflicting classifications of pathogenicity

Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA243233

rs_139166382

7 SubmittersRCV000177130 RCV001832013 RCV002433771

NM_001360.3(DHCR7):c.399C>T (p.Ala133=)

SNV
Germline

Chr11:71442276

Conflicting classifications of pathogenicity

not specified
Smith-Lemli-Opitz syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA246033

rs_147424205

12 SubmittersRCV000243526 RCV000400238 RCV001706145 RCV002312727

NM_001360.3(DHCR7):c.582C>T (p.Phe194=)

SNV
Germline

Chr11:71441271

Conflicting classifications of pathogenicity

Condition: not provided
Smith-Lemli-Opitz syndrome

Criteria Provided
Conflicting Classifications

CA246628

rs_150603941

4 SubmittersRCV000179382 RCV001081677

NM_001360.3(DHCR7):c.709C>T (p.Leu237=)

SNV
Germline

Chr11:71439001

Conflicting classifications of pathogenicity

Condition: not provided
Smith-Lemli-Opitz syndrome

Criteria Provided
Conflicting Classifications

CA247131

rs_755941916

2 SubmittersRCV000179821 RCV001083804

NM_001360.3(DHCR7):c.906C>T (p.Phe302=)

SNV
Germline

Chr11:71437869

Conflicting classifications of pathogenicity

Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases
DHCR7-related disorder

Criteria Provided
Conflicting Classifications

CA247591

rs_80338858

8 SubmittersRCV000724362 RCV001086880 RCV002372104 RCV003937634

NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg)

SNV
Germline

Chr11:71437868

Pathogenic/Likely pathogenic

Smith-Lemli-Opitz syndrome
Condition: not provided
See cases
Inborn genetic diseases
DHCR7-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA275430

rs_142808899

14 SubmittersRCV000180217 RCV000724095 RCV002252024 RCV002372105 RCV003907631

NM_001360.3(DHCR7):c.1362G>A (p.Lys454=)

SNV
Germline

Chr11:71435441

Conflicting classifications of pathogenicity

Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases
DHCR7-related disorder

Criteria Provided
Conflicting Classifications

CA248056

rs_147850435

5 SubmittersRCV000180568 RCV001080017 RCV002314676 RCV004748640

NM_001360.3(DHCR7):c.1270G>A (p.Gly424Ser)

SNV
Germline

Chr11:71435533

Conflicting classifications of pathogenicity

Condition: not provided
Smith-Lemli-Opitz syndrome

Criteria Provided
Conflicting Classifications

CA248059

rs_368150818

3 SubmittersRCV000513082 RCV002054152

NM_001360.3(DHCR7):c.1396G>A (p.Val466Met)

SNV
Germline

Chr11:71435407

Pathogenic/Likely pathogenic

Smith-Lemli-Opitz syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA6162239

rs_760428437

6 SubmittersRCV000536496 RCV000255209

NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu)

SNV
Germline

Chr7:143330772

Pathogenic

Condition: not provided
Smith-Lemli-Opitz syndrome
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Tip-toe gait
CLCN1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA4537163

rs_150885084

13 SubmittersRCV000305463 RCV001753743 RCV000560216 RCV003319192 RCV004535246

NM_001360.3(DHCR7):c.740C>T (p.Ala247Val)

SNV
Germline

Chr11:71438970

Pathogenic/Likely pathogenic

Condition: not provided
Smith-Lemli-Opitz syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10603223

rs_886041354

6 SubmittersRCV000383910 RCV000670451

NM_001360.3(DHCR7):c.91C>T (p.Arg31Cys)

SNV
Germline

Chr11:71444862

Conflicting classifications of pathogenicity

Condition: not provided
Smith-Lemli-Opitz syndrome
not specified

Criteria Provided
Conflicting Classifications

CA6162709

rs_367585401

7 SubmittersRCV000681774 RCV001114198 RCV001797701

NM_001360.3(DHCR7):c.1099C>T (p.Arg367Cys)

SNV
Germline

Chr11:71435704

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Smith-Lemli-Opitz syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6162313

rs_531038145

7 SubmittersRCV000259933 RCV003155146 RCV001828180 RCV002317798

NM_001360.3(DHCR7):c.139C>T (p.Leu47=)

SNV
Germline

Chr11:71444175

Conflicting classifications of pathogenicity

Condition: not provided
Smith-Lemli-Opitz syndrome
not specified
Inborn genetic diseases
DHCR7-related disorder

Criteria Provided
Conflicting Classifications

CA6162680

rs_140721259

7 SubmittersRCV000279800 RCV001483712 RCV001532990 RCV002314006 RCV003909950

NM_001360.3(DHCR7):c.1138T>C (p.Cys380Arg)

SNV
Germline

Chr11:71435665

Pathogenic/Likely pathogenic

Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA6162305

rs_373306653

6 SubmittersRCV000725474 RCV000408382 RCV002321954

NM_001360.3(DHCR7):c.375C>T (p.Tyr125=)

SNV
Germline

Chr11:71442300

Conflicting classifications of pathogenicity

Condition: not provided
Smith-Lemli-Opitz syndrome
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6162599

rs_779401555

5 SubmittersRCV000291809 RCV001493916 RCV002307479 RCV002348006

NM_001360.3(DHCR7):c.729C>T (p.Pro243=)

SNV
Germline

Chr11:71438981

Conflicting classifications of pathogenicity

Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA6162478

rs_145284180

7 SubmittersRCV000375257 RCV001086349 RCV002379139 RCV005238847

NM_001360.3(DHCR7):c.855C>T (p.Phe285=)

SNV
Germline

Chr11:71437920

Conflicting classifications of pathogenicity

Condition: not provided
Smith-Lemli-Opitz syndrome
DHCR7-related disorder

Criteria Provided
Conflicting Classifications

CA6162415

rs_781026169

5 SubmittersRCV000352664 RCV001088276 RCV003967772

NM_001360.3(DHCR7):c.927C>A (p.Gly309=)

SNV
Germline

Chr11:71437848

Conflicting classifications of pathogenicity

Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases
DHCR7-related disorder

Criteria Provided
Conflicting Classifications

CA6162402

rs_149974099

8 SubmittersRCV000275747 RCV000344149 RCV002314029 RCV003910023

NM_001360.3(DHCR7):c.840C>T (p.Tyr280=)

SNV
Germline

Chr11:71437935

Conflicting classifications of pathogenicity

Condition: not provided
Smith-Lemli-Opitz syndrome
DHCR7-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6162416

rs_148468879

6 SubmittersRCV000263526 RCV000394015 RCV003967791 RCV003380538

NM_001360.3(DHCR7):c.1365C>T (p.Tyr455=)

SNV
Germline

Chr11:71435438

Conflicting classifications of pathogenicity

Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6162248

rs_557097410

5 SubmittersRCV000333245 RCV001085996 RCV002317822

NM_001360.3(DHCR7):c.198C>T (p.Cys66=)

SNV
Germline

Chr11:71444116

Conflicting classifications of pathogenicity

Condition: not provided
Smith-Lemli-Opitz syndrome
DHCR7-related disorder

Criteria Provided
Conflicting Classifications

CA6162667

rs_775127532

3 SubmittersRCV000376184 RCV001485677 RCV003967798

NM_001360.3(DHCR7):c.1273G>A (p.Gly425Ser)

SNV
Germline

Chr11:71435530

Conflicting classifications of pathogenicity

Smith-Lemli-Opitz syndrome
Condition: not provided
DHCR7-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6162273

rs_760242

7 SubmittersRCV000316974 RCV000595632 RCV003920263 RCV002374522

NM_001360.3(DHCR7):c.964-1G>T

SNV
Germline

Chr11:71435840

Pathogenic/Likely pathogenic

Smith-Lemli-Opitz syndrome
Condition: not provided
Inborn genetic diseases
DHCR7-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA6162346

rs_138659167

12 SubmittersRCV000383519 RCV001538276 RCV002522204 RCV003391078

NM_001360.3(DHCR7):c.1389C>T (p.Thr463=)

SNV
Germline

Chr11:71435414

Conflicting classifications of pathogenicity

Smith-Lemli-Opitz syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6162241

rs_200477386

4 SubmittersRCV000301805 RCV003298368

NM_001360.3(DHCR7):c.1083C>A (p.Phe361Leu)

SNV
Germline

Chr11:71435720

Conflicting classifications of pathogenicity

Smith-Lemli-Opitz syndrome

Criteria Provided
Conflicting Classifications

CA6162320

rs_780088227

2 SubmittersRCV000292578

NM_001360.3(DHCR7):c.99-5C>T

SNV
Germline

Chr11:71444220

Conflicting classifications of pathogenicity

Smith-Lemli-Opitz syndrome
Condition: not provided
Inborn genetic diseases
DHCR7-related disorder

Criteria Provided
Conflicting Classifications

CA6162688

rs_372886043

8 SubmittersRCV000328550 RCV000591841 RCV002379182 RCV003930297

NM_001360.3(DHCR7):c.-195G>T

SNV
Germline

Chr11:71448353

Conflicting classifications of pathogenicity

Smith-Lemli-Opitz syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10639335

rs_141057811

4 SubmittersRCV000278979 RCV001785555

NM_001360.3(DHCR7):c.*119G>A

SNV
Germline

Chr11:71435256

Conflicting classifications of pathogenicity

Smith-Lemli-Opitz syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10640023

rs_151230950

4 SubmittersRCV000361729 RCV001575569

NM_001360.3(DHCR7):c.1091C>T (p.Thr364Met)

SNV
Germline

Chr11:71435712

Conflicting classifications of pathogenicity

Smith-Lemli-Opitz syndrome
not specified
Condition: not provided
Inborn genetic diseases
DHCR7-related disorder

Criteria Provided
Conflicting Classifications

CA6162314

rs_567600444

9 SubmittersRCV000386515 RCV000503164 RCV000731830 RCV002314045 RCV003950037

NM_001360.3(DHCR7):c.1199G>A (p.Trp400Ter)

SNV
Unknown

Chr11:71435604

Likely pathogenic

Smith-Lemli-Opitz syndrome

No Assertion Criteria Provided

CA16041545

rs_1057516493

1 SubmittersRCV000411064

NM_001360.3(DHCR7):c.991C>T (p.Gln331Ter)

SNV
Germline

Chr11:71435812

Pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA16041548

rs_1057516610

2 SubmittersRCV000409015

NM_001360.3(DHCR7):c.981C>A (p.Tyr327Ter)

SNV
Unknown

Chr11:71435822

Likely pathogenic

Smith-Lemli-Opitz syndrome

No Assertion Criteria Provided

CA16041549

rs_1057516375

1 SubmittersRCV000411396

NM_001360.3(DHCR7):c.963+2T>G

SNV
Germline

Chr11:71437810

Pathogenic/Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16041550

rs_1057517070

3 SubmittersRCV000410293

NM_001360.3(DHCR7):c.963+1G>T

SNV
Germline

Chr11:71437811

Pathogenic/Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16041551

rs_1057516973

3 SubmittersRCV000411265

NM_001360.3(DHCR7):c.831+2T>A

SNV
Germline

Chr11:71438877

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA16041552

rs_1057516920

3 SubmittersRCV000409593

NM_001360.3(DHCR7):c.627-1G>A

SNV
Germline

Chr11:71439084

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA16041554

rs_1057517210

3 SubmittersRCV000411331

NM_001360.3(DHCR7):c.413-1G>A

SNV
Unknown

Chr11:71441441

Likely pathogenic

Smith-Lemli-Opitz syndrome

No Assertion Criteria Provided

CA16041555

rs_1057517307

1 SubmittersRCV000409542

NM_001360.3(DHCR7):c.82C>T (p.Gln28Ter)

SNV
Germline

Chr11:71444871

Pathogenic/Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA6162713

rs_756564881

3 SubmittersRCV000411258

NM_001360.3(DHCR7):c.16C>T (p.Gln6Ter)

SNV
Germline

Chr11:71444937

Pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA16041556

rs_1057516977

2 SubmittersRCV000411661

NM_001360.3(DHCR7):c.1011C>T (p.Ala337=)

SNV
Germline

Chr11:71435792

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Smith-Lemli-Opitz syndrome

Criteria Provided
Conflicting Classifications

CA6162334

rs_369382960

4 SubmittersRCV000428469 RCV000734339 RCV001274174

NM_001360.3(DHCR7):c.440G>A (p.Gly147Asp)

SNV
Germline

Chr11:71441413

Pathogenic/Likely pathogenic

Condition: not provided
Smith-Lemli-Opitz syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA6162559

rs_777425801

9 SubmittersRCV000421810 RCV000665794

NM_001360.3(DHCR7):c.1328G>A (p.Arg443His)

SNV
Germline

Chr11:71435475

Pathogenic/Likely pathogenic

Smith-Lemli-Opitz syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA6162261

rs_781687341

7 SubmittersRCV000449623 RCV002473005

NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala)

SNV
Germline

Chr11:71444864

Conflicting classifications of pathogenicity

Smith-Lemli-Opitz syndrome
Condition: not provided
Inborn genetic diseases
DHCR7-related disorder

Criteria Provided
Conflicting Classifications

CA6162711

rs_200334114

13 SubmittersRCV000449598 RCV000728279 RCV002374732 RCV003418143

NM_001360.3(DHCR7):c.655T>G (p.Tyr219Asp)

SNV
Germline

Chr11:71439055

Conflicting classifications of pathogenicity

Condition: not provided
Smith-Lemli-Opitz syndrome
not specified

Criteria Provided
Conflicting Classifications

CA6162499

rs_779896782

7 SubmittersRCV000493359 RCV000668765 RCV002271516

NM_001360.3(DHCR7):c.1337G>A (p.Arg446Gln)

SNV
Germline

Chr11:71435466

Pathogenic/Likely pathogenic

Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA6162258

rs_751604696

10 SubmittersRCV000498273 RCV000576656 RCV002311810

NM_001360.3(DHCR7):c.964-5C>T

SNV
Germline

Chr11:71435844

Conflicting classifications of pathogenicity

not specified
Smith-Lemli-Opitz syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6162348

rs_767108226

4 SubmittersRCV000507384 RCV002496966 RCV002527349

NM_001360.3(DHCR7):c.1406G>C (p.Arg469Pro)

SNV
Germline

Chr11:71435397

Conflicting classifications of pathogenicity

Condition: not provided
Smith-Lemli-Opitz syndrome
DHCR7-related disorder

Criteria Provided
Conflicting Classifications

CA6162236

rs_201150384

5 SubmittersRCV000519844 RCV000670231 RCV003392349

NM_001360.3(DHCR7):c.1018G>A (p.Val340Ile)

SNV
Germline

Chr11:71435785

Conflicting classifications of pathogenicity

Smith-Lemli-Opitz syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6162332

rs_148081697

3 SubmittersRCV000551112 RCV002314950

NM_001360.3(DHCR7):c.970T>C (p.Tyr324His)

SNV
Germline

Chr11:71435833

Pathogenic/Likely pathogenic

Smith-Lemli-Opitz syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA381702573

rs_1173707321

4 SubmittersRCV000525900 RCV001280755

NM_001360.3(DHCR7):c.470T>C (p.Leu157Pro)

SNV
Germline

Chr11:71441383

Pathogenic/Likely pathogenic

Smith-Lemli-Opitz syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA6162556

rs_753960624

9 SubmittersRCV000578237 RCV000724648

NM_001360.3(DHCR7):c.123G>A (p.Ala41=)

SNV
Germline

Chr11:71444191

Conflicting classifications of pathogenicity

Condition: not provided
Smith-Lemli-Opitz syndrome

Criteria Provided
Conflicting Classifications

CA6162684

rs_376263149

2 SubmittersRCV000597018 RCV001416167

NM_001360.3(DHCR7):c.882C>T (p.Thr294=)

SNV
Germline

Chr11:71437893

Conflicting classifications of pathogenicity

Condition: not provided
Smith-Lemli-Opitz syndrome

Criteria Provided
Conflicting Classifications

CA6162408

rs_748858240

2 SubmittersRCV000596624 RCV001459056

NM_001360.3(DHCR7):c.670G>A (p.Glu224Lys)

SNV
Germline

Chr11:71439040

Conflicting classifications of pathogenicity

Condition: not provided
Smith-Lemli-Opitz syndrome

Criteria Provided
Conflicting Classifications

CA6162492

rs_373121544

4 SubmittersRCV000596201 RCV000671914

NM_001360.3(DHCR7):c.862G>A (p.Glu288Lys)

SNV
Germline

Chr11:71437913

Conflicting classifications of pathogenicity

Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases
DHCR7-related disorder

Criteria Provided
Conflicting Classifications

CA6162412

rs_565893436

9 SubmittersRCV000593358 RCV000674146 RCV001267309 RCV004748841

NM_001360.3(DHCR7):c.723G>T (p.Gly241=)

SNV
Germline

Chr11:71438987

Conflicting classifications of pathogenicity

Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6162480

rs_369654651

3 SubmittersRCV000597719 RCV001088762 RCV003302920

NM_001360.3(DHCR7):c.92G>A (p.Arg31His)

SNV
Germline

Chr11:71444861

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Smith-Lemli-Opitz syndrome

Criteria Provided
Conflicting Classifications

CA6162708

rs_370307688

6 SubmittersRCV000594191 RCV001821731 RCV003617849

NM_001360.3(DHCR7):c.1410G>A (p.Leu470=)

SNV
Germline

Chr11:71435393

Conflicting classifications of pathogenicity

Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases
DHCR7-related disorder

Criteria Provided
Conflicting Classifications

CA6162233

rs_375993195

5 SubmittersRCV000592908 RCV001275364 RCV002315895 RCV003962723

NM_001360.3(DHCR7):c.288C>T (p.Ala96=)

SNV
Germline

Chr11:71444026

Conflicting classifications of pathogenicity

Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases
DHCR7-related disorder

Criteria Provided
Conflicting Classifications

CA6162646

rs_745595242

6 SubmittersRCV000595639 RCV001083941 RCV004024831 RCV004748848

NM_001360.3(DHCR7):c.412+4G>A

SNV
Germline

Chr11:71442259

Conflicting classifications of pathogenicity

not specified
Smith-Lemli-Opitz syndrome
DHCR7-related disorder

Criteria Provided
Conflicting Classifications

CA6162588

rs_776841323

3 SubmittersRCV000616541 RCV002532795 RCV003935697

NM_001360.3(DHCR7):c.1409T>A (p.Leu470Gln)

SNV
Germline

Chr11:71435394

Pathogenic/Likely pathogenic

Inborn genetic diseases
Smith-Lemli-Opitz syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA381700454

rs_1331331095

4 SubmittersRCV000622787 RCV000762863

NM_001360.3(DHCR7):c.1426T>A (p.Ter476Lys)

SNV
Unknown

Chr11:71435377

Likely pathogenic

Smith-Lemli-Opitz syndrome

No Assertion Criteria Provided

CA381700381

rs_775034584

1 SubmittersRCV000674641

NM_001360.3(DHCR7):c.1349G>A (p.Arg450His)

SNV
Germline

Chr11:71435454

Conflicting classifications of pathogenicity

Smith-Lemli-Opitz syndrome
not specified
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA224323879

rs_542266962

7 SubmittersRCV000674850 RCV003226367 RCV002317913 RCV001556929

NM_001360.3(DHCR7):c.1210C>G (p.Arg404Gly)

SNV
Germline

Chr11:71435593

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381701468

rs_61757582

2 SubmittersRCV000674716

NM_001360.3(DHCR7):c.1079T>C (p.Leu360Pro)

SNV
Germline

Chr11:71435724

Pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381702131

rs_1555145619

2 SubmittersRCV000668758

NM_001360.3(DHCR7):c.1022T>C (p.Leu341Pro)

SNV
Germline

Chr11:71435781

Conflicting classifications of pathogenicity

Smith-Lemli-Opitz syndrome
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA381702390

rs_1317526744

4 SubmittersRCV000666425 RCV002369797 RCV002510951

NM_001360.3(DHCR7):c.808A>G (p.Met270Val)

SNV
Germline

Chr11:71438902

Pathogenic/Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA381703233

rs_1555146021

3 SubmittersRCV000672300

NM_001360.3(DHCR7):c.704T>C (p.Phe235Ser)

SNV
Germline

Chr11:71439006

Pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381703447

rs_1555146061

2 SubmittersRCV000665754

NM_001360.3(DHCR7):c.521T>C (p.Phe174Ser)

SNV
Germline

Chr11:71441332

Conflicting classifications of pathogenicity

Smith-Lemli-Opitz syndrome
not specified

Criteria Provided
Conflicting Classifications

CA6162542

rs_769218623

6 SubmittersRCV000670698 RCV001797780

NM_001360.3(DHCR7):c.413-2A>G

SNV
Germline

Chr11:71441442

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA6162564

rs_775575609

4 SubmittersRCV000664497

NM_001360.3(DHCR7):c.326T>C (p.Leu109Pro)

SNV
Germline

Chr11:71442349

Pathogenic/Likely pathogenic

Smith-Lemli-Opitz syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA224280150

rs_121912195

6 SubmittersRCV000665858 RCV001568654 RCV002442392

NM_001360.3(DHCR7):c.1327C>T (p.Arg443Cys)

SNV
Germline

Chr11:71435476

Pathogenic/Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA6162263

rs_535561852

5 SubmittersRCV000673491

NM_001360.3(DHCR7):c.1277A>C (p.His426Pro)

SNV
Germline

Chr11:71435526

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381701125

rs_1354718634

2 SubmittersRCV000669736

NM_001360.3(DHCR7):c.1222T>C (p.Tyr408His)

SNV
Germline

Chr11:71435581

Pathogenic/Likely pathogenic

Smith-Lemli-Opitz syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA224324187

rs_1046560765

5 SubmittersRCV000667912 RCV003327443

NM_001360.3(DHCR7):c.1097G>T (p.Gly366Val)

SNV
Germline

Chr11:71435706

Pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381702049

rs_1555145614

2 SubmittersRCV000666844

NM_001360.3(DHCR7):c.939G>A (p.Trp313Ter)

SNV
Germline

Chr11:71437836

Pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381702926

rs_1555145862

2 SubmittersRCV000664491

NM_001360.3(DHCR7):c.861C>A (p.Asn287Lys)

SNV
Germline

Chr11:71437914

Likely pathogenic

Smith-Lemli-Opitz syndrome
DHCR7-related disorder

Criteria Provided
Single Submitter

CA6162413

rs_766495775

3 SubmittersRCV000675015 RCV004748898

NM_001360.3(DHCR7):c.682C>T (p.Arg228Trp)

SNV
Germline

Chr11:71439028

Conflicting classifications of pathogenicity

Smith-Lemli-Opitz syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6162491

rs_775773057

6 SubmittersRCV000674773 RCV002282323 RCV001267993

NM_001360.3(DHCR7):c.296T>C (p.Leu99Pro)

SNV
Germline

Chr11:71444018

Pathogenic/Likely pathogenic

Smith-Lemli-Opitz syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA6162643

rs_104886041

4 SubmittersRCV000668709 RCV000756013

NM_001360.3(DHCR7):c.1342G>C (p.Glu448Gln)

SNV
Germline

Chr11:71435461

Conflicting classifications of pathogenicity

Smith-Lemli-Opitz syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA381700721

rs_80338864

5 SubmittersRCV000670693 RCV001556238 RCV002222595

NM_001360.3(DHCR7):c.1146C>A (p.Tyr382Ter)

SNV
Germline

Chr11:71435657

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA381701822

rs_1555145605

5 SubmittersRCV000667423

NM_001360.3(DHCR7):c.915C>G (p.Tyr305Ter)

SNV
Germline

Chr11:71437860

Pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381702981

rs_1555145867

2 SubmittersRCV000672544

NM_001360.3(DHCR7):c.894C>A (p.Cys298Ter)

SNV
Unknown

Chr11:71437881

Likely pathogenic

Smith-Lemli-Opitz syndrome

No Assertion Criteria Provided

CA381703032

rs_769639753

1 SubmittersRCV000668079

NM_001360.3(DHCR7):c.870G>A (p.Trp290Ter)

SNV
Germline

Chr11:71437905

Pathogenic/Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA6162410

rs_774187452

3 SubmittersRCV000667799

NM_001360.3(DHCR7):c.728C>G (p.Pro243Arg)

SNV
Germline

Chr11:71438982

Pathogenic/Likely pathogenic

Smith-Lemli-Opitz syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA6162479

rs_777248132

4 SubmittersRCV000674586 RCV005414528

NM_001360.3(DHCR7):c.626+1G>T

SNV
Germline

Chr11:71441226

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381694276

rs_1471145742

2 SubmittersRCV000673429

NM_001360.3(DHCR7):c.1376G>A (p.Trp459Ter)

SNV
Germline

Chr11:71435427

Pathogenic/Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA381700586

rs_1555145550

3 SubmittersRCV000674614

NM_001360.3(DHCR7):c.1336C>T (p.Arg446Trp)

SNV
Germline

Chr11:71435467

Conflicting classifications of pathogenicity

Smith-Lemli-Opitz syndrome
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6162259

rs_145043679

4 SubmittersRCV000666265 RCV002530674 RCV004588093

NM_001360.3(DHCR7):c.1210C>A (p.Arg404Ser)

SNV
Germline

Chr11:71435593

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA381701470

rs_61757582

4 SubmittersRCV000668128

NM_001360.3(DHCR7):c.858G>A (p.Trp286Ter)

SNV
Unknown

Chr11:71437917

Likely pathogenic

Smith-Lemli-Opitz syndrome

No Assertion Criteria Provided

CA381703114

rs_1555145877

1 SubmittersRCV000671381

NM_001360.3(DHCR7):c.626+1G>C

SNV
Unknown

Chr11:71441226

Likely pathogenic

Smith-Lemli-Opitz syndrome

No Assertion Criteria Provided

CA381694277

rs_1471145742

1 SubmittersRCV000673564

NM_001360.3(DHCR7):c.433A>C (p.Ile145Leu)

SNV
Germline

Chr11:71441420

Pathogenic/Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA381694688

rs_1555146475

4 SubmittersRCV000674923

NM_001360.3(DHCR7):c.322-2A>G

SNV
Unknown

Chr11:71442355

Likely pathogenic

Smith-Lemli-Opitz syndrome

No Assertion Criteria Provided

CA381695221

rs_1555146618

1 SubmittersRCV000674568

NM_001360.3(DHCR7):c.99-1G>C

SNV
Germline

Chr11:71444216

Likely pathogenic

Smith-Lemli-Opitz syndrome

No Assertion Criteria Provided

CA381696766

rs_1451108193

2 SubmittersRCV000664963

NM_001360.3(DHCR7):c.1084C>T (p.Arg362Cys)

SNV
Germline

Chr11:71435719

Conflicting classifications of pathogenicity

Condition: not provided
Smith-Lemli-Opitz syndrome
not specified

Criteria Provided
Conflicting Classifications

CA6162319

rs_371302153

4 SubmittersRCV000681854 RCV002485579 RCV001844225

NM_001360.3(DHCR7):c.1190C>T (p.Ser397Leu)

SNV
Germline

Chr11:71435613

Pathogenic/Likely pathogenic

Smith-Lemli-Opitz syndrome
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA6162291

rs_773134475

6 SubmittersRCV000805883 RCV002312433

NM_001360.3(DHCR7):c.226G>A (p.Val76Ile)

SNV
Germline

Chr11:71444088

Conflicting classifications of pathogenicity

not specified
Smith-Lemli-Opitz syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6162660

rs_368473756

6 SubmittersRCV000728546 RCV000882330 RCV001672935 RCV002316093

NM_001360.3(DHCR7):c.1087C>T (p.Arg363Cys)

SNV
Germline

Chr11:71435716

Conflicting classifications of pathogenicity

Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA6162316

rs_547012639

7 SubmittersRCV000734205 RCV001825434 RCV002316028 RCV003155295

NM_001360.3(DHCR7):c.987C>T (p.Pro329=)

SNV
Germline

Chr11:71435816

Conflicting classifications of pathogenicity

not specified
Smith-Lemli-Opitz syndrome
Condition: not provided
Inborn genetic diseases
DHCR7-related disorder

Criteria Provided
Conflicting Classifications

CA6162344

rs_145901607

7 SubmittersRCV000730756 RCV000876229 RCV001619826 RCV002314445 RCV003918162

NM_001360.3(DHCR7):c.1005G>A (p.Pro335=)

SNV
Germline

Chr11:71435798

Conflicting classifications of pathogenicity

Condition: not provided
Smith-Lemli-Opitz syndrome

Criteria Provided
Conflicting Classifications

CA6162336

rs_768765843

2 SubmittersRCV000728106 RCV002060967

NM_001360.3(DHCR7):c.957G>A (p.Thr319=)

SNV
Germline

Chr11:71437818

Conflicting classifications of pathogenicity

Condition: not provided
Smith-Lemli-Opitz syndrome
DHCR7-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6162397

rs_200157761

4 SubmittersRCV000728646 RCV001468387 RCV003908022 RCV005328376

NM_001360.3(DHCR7):c.771G>A (p.Ala257=)

SNV
Germline

Chr11:71438939

Conflicting classifications of pathogenicity

Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6162464

rs_200232012

4 SubmittersRCV000728929 RCV001472401 RCV004026961

NM_001360.3(DHCR7):c.318C>T (p.Phe106=)

SNV
Germline

Chr11:71443996

Conflicting classifications of pathogenicity

Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA475519984

rs_1386646132

3 SubmittersRCV000729326 RCV001475008 RCV002325446

NM_001360.3(DHCR7):c.1155C>T (p.Ala385=)

SNV
Germline

Chr11:71435648

Conflicting classifications of pathogenicity

Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA6162298

rs_777517985

5 SubmittersRCV000730127 RCV001079656 RCV002360854 RCV003155298

NM_001360.3(DHCR7):c.15G>A (p.Ser5=)

SNV
Germline

Chr11:71444938

Conflicting classifications of pathogenicity

Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6162731

rs_147038941

5 SubmittersRCV000730405 RCV001081042 RCV002397509

NM_001360.3(DHCR7):c.902A>G (p.His301Arg)

SNV
Germline

Chr11:71437873

Pathogenic/Likely pathogenic

Condition: not provided
Smith-Lemli-Opitz syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA381703011

rs_1565586067

4 SubmittersRCV000730533 RCV001027946

NM_001360.3(DHCR7):c.795T>C (p.His265=)

SNV
Germline

Chr11:71438915

Conflicting classifications of pathogenicity

Condition: not provided
Smith-Lemli-Opitz syndrome

Criteria Provided
Conflicting Classifications

CA475569396

rs_1472363309

2 SubmittersRCV000730593 RCV001393876

NM_001360.3(DHCR7):c.1152C>T (p.Ser384=)

SNV
Germline

Chr11:71435651

Conflicting classifications of pathogenicity

Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6162300

rs_145084285

3 SubmittersRCV000730599 RCV001088788 RCV002343597

NM_001360.3(DHCR7):c.615C>T (p.Ser205=)

SNV
Germline

Chr11:71441238

Conflicting classifications of pathogenicity

Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6162524

rs_561379509

3 SubmittersRCV000730833 RCV001476900 RCV004026999

NM_001360.3(DHCR7):c.1203C>T (p.Gly401=)

SNV
Germline

Chr11:71435600

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Smith-Lemli-Opitz syndrome

Criteria Provided
Conflicting Classifications

CA6162289

rs_368867929

3 SubmittersRCV000732800 RCV002343603 RCV002535292

NM_001360.3(DHCR7):c.963+7A>G

SNV
Germline

Chr11:71437805

Conflicting classifications of pathogenicity

Condition: not provided
Smith-Lemli-Opitz syndrome

Criteria Provided
Conflicting Classifications

CA6162394

rs_775201083

2 SubmittersRCV000733096 RCV002067142

NM_001360.3(DHCR7):c.831+7G>A

SNV
Germline

Chr11:71438872

Conflicting classifications of pathogenicity

Condition: not provided
Smith-Lemli-Opitz syndrome
DHCR7-related disorder

Criteria Provided
Conflicting Classifications

CA600241269

rs_1318919210

3 SubmittersRCV000734126 RCV002067162 RCV003892667

NM_001360.3(DHCR7):c.429T>G (p.Tyr143Ter)

SNV
Germline

Chr11:71441424

Likely pathogenic

Condition: not provided
Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381694696

rs_1393186135

2 SubmittersRCV000760785 RCV001830661

NM_001360.3(DHCR7):c.546G>A (p.Trp182Ter)

SNV
Germline

Chr11:71441307

Pathogenic/Likely pathogenic

Smith-Lemli-Opitz syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA224279792

rs_1032242817

6 SubmittersRCV000761593 RCV003166024

NM_001360.3(DHCR7):c.438T>G (p.Asn146Lys)

SNV
Germline

Chr11:71441415

Pathogenic/Likely pathogenic

Smith-Lemli-Opitz syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA6162560

rs_949177

4 SubmittersRCV000779078 RCV003222128

NM_001360.3(DHCR7):c.651C>A (p.Tyr217Ter)

SNV
Germline

Chr11:71439059

Pathogenic

Smith-Lemli-Opitz syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA6162500

rs_749076525

4 SubmittersRCV000781323 RCV001572260

NM_001360.3(DHCR7):c.907G>T (p.Gly303Trp)

SNV
Germline

Chr11:71437868

Conflicting classifications of pathogenicity

Smith-Lemli-Opitz syndrome

Criteria Provided
Conflicting Classifications

CA6162404

rs_142808899

3 SubmittersRCV000794082

NM_001360.3(DHCR7):c.852C>A (p.Phe284Leu)

SNV
Germline

Chr11:71437923

Pathogenic/Likely pathogenic

Smith-Lemli-Opitz syndrome
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA224326709

rs_184297154

5 SubmittersRCV000815482 RCV002442731

NM_001360.3(DHCR7):c.1A>C (p.Met1Leu)

SNV
Unknown

Chr11:71444952

Pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381697227

rs_104886033

1 SubmittersRCV000856756

NM_001360.3(DHCR7):c.765C>T (p.Phe255=)

SNV
Germline

Chr11:71438945

Conflicting classifications of pathogenicity

Smith-Lemli-Opitz syndrome
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA6162468

rs_200132007

9 SubmittersRCV001000753 RCV001546710 RCV002390816 RCV004782586

NM_001360.3(DHCR7):c.99-10G>A

SNV
Germline

Chr11:71444225

Conflicting classifications of pathogenicity

Smith-Lemli-Opitz syndrome
not specified
Condition: not provided
DHCR7-related disorder

Criteria Provided
Conflicting Classifications

CA6162689

rs_189549129

7 SubmittersRCV000874722 RCV001193585 RCV001698674 RCV003948217

NM_001360.3(DHCR7):c.735C>T (p.Ile245=)

SNV
Germline

Chr11:71438975

Conflicting classifications of pathogenicity

Smith-Lemli-Opitz syndrome
Condition: not provided
Inborn genetic diseases
DHCR7-related disorder

Criteria Provided
Conflicting Classifications

CA6162477

rs_12800

7 SubmittersRCV000882022 RCV001575090 RCV002382030 RCV003895411

NM_001360.3(DHCR7):c.322-7G>A

SNV
Germline

Chr11:71442360

Conflicting classifications of pathogenicity

Smith-Lemli-Opitz syndrome

Criteria Provided
Conflicting Classifications

CA679803182

rs_1359774813

2 SubmittersRCV001110850

NM_001360.3(DHCR7):c.1290C>G (p.Tyr430Ter)

SNV
Germline

Chr11:71435513

Pathogenic/Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA6162269

rs_140791666

2 SubmittersRCV001004586

NM_001360.3(DHCR7):c.1219A>T (p.Asn407Tyr)

SNV
Germline

Chr11:71435584

Pathogenic/Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA6162285

rs_770819693

4 SubmittersRCV001004587

NM_001360.3(DHCR7):c.1112G>A (p.Trp371Ter)

SNV
Germline

Chr11:71435691

Pathogenic/Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA381702003

rs_1591107421

2 SubmittersRCV001004588

NM_001360.3(DHCR7):c.696G>A (p.Trp232Ter)

SNV
Germline

Chr11:71439014

Pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA381703470

rs_1591109892

2 SubmittersRCV001004374

NM_001360.3(DHCR7):c.321G>C (p.Gln107His)

SNV
Germline

Chr11:71443993

Conflicting classifications of pathogenicity

Smith-Lemli-Opitz syndrome

Criteria Provided
Conflicting Classifications

CA6162641

rs_104886040

4 SubmittersRCV001004377

NM_001360.3(DHCR7):c.127G>A (p.Val43Ile)

SNV
Germline

Chr11:71444187

Conflicting classifications of pathogenicity

Microcephaly
Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6162683

rs_200984695

6 SubmittersRCV001252793 RCV002264993 RCV002481808 RCV002372729

NM_001360.3(DHCR7):c.1325A>G (p.His442Arg)

SNV
Germline

Chr11:71435478

Conflicting classifications of pathogenicity

Smith-Lemli-Opitz syndrome
not specified

Criteria Provided
Conflicting Classifications

CA381700842

rs_1949265616

2 SubmittersRCV001059047 RCV005432557

NM_001360.3(DHCR7):c.1084C>G (p.Arg362Gly)

SNV
Germline

Chr11:71435719

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381702106

rs_371302153

1 SubmittersRCV001048197

NM_001360.3(DHCR7):c.952T>A (p.Tyr318Asn)

SNV
Germline

Chr11:71437823

Pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381702899

rs_1177326550

1 SubmittersRCV001048198

NM_001360.3(DHCR7):c.*226C>T

SNV
Germline

Chr11:71435149

Conflicting classifications of pathogenicity

Smith-Lemli-Opitz syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6162204

rs_185557595

3 SubmittersRCV001109993 RCV003222225

NM_001360.3(DHCR7):c.*28G>T

SNV
Germline

Chr11:71435347

Conflicting classifications of pathogenicity

Smith-Lemli-Opitz syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6162223

rs_114143715

2 SubmittersRCV001109999 RCV001571273

NM_001360.3(DHCR7):c.231C>G (p.Thr77=)

SNV
Germline

Chr11:71444083

Conflicting classifications of pathogenicity

Smith-Lemli-Opitz syndrome

Criteria Provided
Conflicting Classifications

CA475520511

rs_4316537

2 SubmittersRCV001112841

NM_001360.3(DHCR7):c.99-11C>T

SNV
Germline

Chr11:71444226

Conflicting classifications of pathogenicity

Smith-Lemli-Opitz syndrome

Criteria Provided
Conflicting Classifications

CA6162690

rs_371964662

2 SubmittersRCV001114197

NM_001360.3(DHCR7):c.501G>A (p.Trp167Ter)

SNV
Germline

Chr11:71441352

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381694550

rs_1427321619

2 SubmittersRCV001193583

NM_001360.3(DHCR7):c.1218C>G (p.Phe406Leu)

SNV
Germline

Chr11:71435585

Conflicting classifications of pathogenicity

Smith-Lemli-Opitz syndrome
not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA381701426

rs_1949268068

6 SubmittersRCV001207177 RCV001819896 RCV002509629 RCV005540299

NM_001360.3(DHCR7):c.627C>A (p.Cys209Ter)

SNV
Unknown

Chr11:71439083

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381703982

rs_1949322246

1 SubmittersRCV001263646

NM_001360.3(DHCR7):c.388C>T (p.Gln130Ter)

SNV
Germline

Chr11:71442287

Pathogenic/Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA381694867

rs_1949357136

2 SubmittersRCV001263930

NM_001360.3(DHCR7):c.300T>A (p.Tyr100Ter)

SNV
Unknown

Chr11:71444014

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381695963

rs_1949375897

1 SubmittersRCV001263931

NM_001360.3(DHCR7):c.116C>G (p.Ser39Ter)

SNV
Unknown

Chr11:71444198

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381696720

rs_1467346010

1 SubmittersRCV001263932

NM_001360.3(DHCR7):c.1221C>A (p.Asn407Lys)

SNV
Germline

Chr11:71435582

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA381701409

rs_1481450955

2 SubmittersRCV001286268

NM_001360.3(DHCR7):c.322-1G>A

SNV
Germline

Chr11:71442354

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA381695218

rs_1565588719

3 SubmittersRCV001328809

NM_001360.3(DHCR7):c.782A>G (p.Glu261Gly)

SNV
Germline

Chr11:71438928

Conflicting classifications of pathogenicity

Smith-Lemli-Opitz syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA381703289

rs_1406131499

3 SubmittersRCV001343203 RCV001751671

NM_001360.3(DHCR7):c.1337G>C (p.Arg446Pro)

SNV
Germline

Chr11:71435466

Conflicting classifications of pathogenicity

Smith-Lemli-Opitz syndrome

Criteria Provided
Conflicting Classifications

CA381700763

rs_751604696

2 SubmittersRCV001378030

NM_001360.3(DHCR7):c.1328G>T (p.Arg443Leu)

SNV
Germline

Chr11:71435475

Likely pathogenic

Smith-Lemli-Opitz syndrome
Condition: not provided
DHCR7-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA6162262

rs_781687341

3 SubmittersRCV001377821 RCV002291753 RCV003898362

NM_001360.3(DHCR7):c.1324C>G (p.His442Asp)

SNV
Germline

Chr11:71435479

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381700849

rs_2135939533

1 SubmittersRCV001376981

NM_001360.3(DHCR7):c.374A>G (p.Tyr125Cys)

SNV
Germline

Chr11:71442301

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381694941

rs_2135945513

1 SubmittersRCV001378034

NM_001360.3(DHCR7):c.1328G>C (p.Arg443Pro)

SNV
Germline

Chr11:71435475

Pathogenic/Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA6162260

rs_781687341

2 SubmittersRCV001384493

NM_001360.3(DHCR7):c.1295A>G (p.Tyr432Cys)

SNV
Germline

Chr11:71435508

Pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA381701018

rs_1565584679

2 SubmittersRCV001390625

NM_001360.3(DHCR7):c.739G>A (p.Ala247Thr)

SNV
Germline

Chr11:71438971

Conflicting classifications of pathogenicity

Smith-Lemli-Opitz syndrome
not specified

Criteria Provided
Conflicting Classifications

CA6162474

rs_767031102

3 SubmittersRCV001387184 RCV003331145

NM_001360.3(DHCR7):c.600C>G (p.Tyr200Ter)

SNV
Germline

Chr11:71441253

Pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381694339

rs_2135944550

1 SubmittersRCV001390320

NM_001360.3(DHCR7):c.545G>A (p.Trp182Ter)

SNV
Germline

Chr11:71441308

Pathogenic/Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA6162538

rs_536394774

3 SubmittersRCV001387625

NM_001360.3(DHCR7):c.1354G>A (p.Ala452Thr)

SNV
Germline

Chr11:71435449

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Smith-Lemli-Opitz syndrome

Criteria Provided
Conflicting Classifications

CA6162250

rs_140400648

5 SubmittersRCV001420836 RCV001664869 RCV001831472

NM_001360.3(DHCR7):c.548G>A (p.Cys183Tyr)

SNV
Germline

Chr11:71441305

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA381694450

rs_2135944619

2 SubmittersRCV001808194

NM_001360.3(DHCR7):c.744G>A (p.Trp248Ter)

SNV
Germline

Chr11:71438966

Pathogenic/Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA381703366

rs_104894212

2 SubmittersRCV001839372

NM_001360.3(DHCR7):c.739G>T (p.Ala247Ser)

SNV
Germline

Chr11:71438971

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381703374

rs_767031102

1 SubmittersRCV001978000

NM_001360.3(DHCR7):c.727C>T (p.Pro243Ser)

SNV
Germline

Chr11:71438983

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA381703395

rs_1329227520

2 SubmittersRCV002018898

NM_001360.3(DHCR7):c.977T>G (p.Val326Gly)

SNV
Germline

Chr11:71435826

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381702554

rs_1333822866

1 SubmittersRCV001984345

NM_001360.3(DHCR7):c.953A>G (p.Tyr318Cys)

SNV
Germline

Chr11:71437822

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381702895

rs_1457166572

1 SubmittersRCV001994199

NM_001360.3(DHCR7):c.322-1G>C

SNV
Germline

Chr11:71442354

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381695216

rs_1565588719

1 SubmittersRCV001996273

NM_001360.3(DHCR7):c.1294T>C (p.Tyr432His)

SNV
Germline

Chr11:71435509

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA6162267

rs_747656720

1 SubmittersRCV002006640

NM_001360.3(DHCR7):c.821A>C (p.Asn274Thr)

SNV
Germline

Chr11:71438889

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA6162452

rs_774275482

1 SubmittersRCV001971809

NM_001360.3(DHCR7):c.1220A>G (p.Asn407Ser)

SNV
Germline

Chr11:71435583

Pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA6162284

rs_746591926

1 SubmittersRCV001942267

NM_001360.3(DHCR7):c.1083C>G (p.Phe361Leu)

SNV
Germline

Chr11:71435720

Conflicting classifications of pathogenicity

Smith-Lemli-Opitz syndrome
not specified

Criteria Provided
Conflicting Classifications

CA381702110

rs_780088227

2 SubmittersRCV001946599 RCV004690197

NM_001360.3(DHCR7):c.1085G>A (p.Arg362His)

SNV
Germline

Chr11:71435718

Conflicting classifications of pathogenicity

Smith-Lemli-Opitz syndrome
DHCR7-related disorder

Criteria Provided
Conflicting Classifications

CA6162317

rs_142213147

5 SubmittersRCV001971954 RCV004749793

NM_001360.3(DHCR7):c.925G>A (p.Gly309Ser)

SNV
Germline

Chr11:71437850

Pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381702959

rs_2135941811

1 SubmittersRCV001972753

NM_001360.3(DHCR7):c.822C>A (p.Asn274Lys)

SNV
Germline

Chr11:71438888

Pathogenic/Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA6162451

rs_139787408

2 SubmittersRCV001972754

NM_001360.3(DHCR7):c.575C>T (p.Ser192Phe)

SNV
Germline

Chr11:71441278

Conflicting classifications of pathogenicity

Smith-Lemli-Opitz syndrome
not specified

Criteria Provided
Conflicting Classifications

CA6162531

rs_766299724

2 SubmittersRCV001949400 RCV004770316

NM_001360.3(DHCR7):c.1228G>C (p.Gly410Arg)

SNV
Germline

Chr11:71435575

Pathogenic/Likely pathogenic

Smith-Lemli-Opitz syndrome
DHCR7-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA381701371

rs_80338862

5 SubmittersRCV001972582 RCV003418255

NM_001360.3(DHCR7):c.1223A>T (p.Tyr408Phe)

SNV
Germline

Chr11:71435580

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381701397

rs_1219026826

1 SubmittersRCV002006262

NM_001360.3(DHCR7):c.1360A>T (p.Lys454Ter)

SNV
Germline

Chr11:71435443

Pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381700648

rs_2135939478

1 SubmittersRCV001896349

NM_001360.3(DHCR7):c.1424T>C (p.Phe475Ser)

SNV
Germline

Chr11:71435379

Conflicting classifications of pathogenicity

Smith-Lemli-Opitz syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA381700390

rs_1478872904

4 SubmittersRCV002023987 RCV002463105 RCV003388085

NM_001360.3(DHCR7):c.322-9G>A

SNV
Germline

Chr11:71442362

Conflicting classifications of pathogenicity

Smith-Lemli-Opitz syndrome

Criteria Provided
Conflicting Classifications

CA2573147616

rs_2135945639

2 SubmittersRCV002147004

NM_001360.3(DHCR7):c.1254C>T (p.Tyr418=)

SNV
Germline

Chr11:71435549

Conflicting classifications of pathogenicity

Smith-Lemli-Opitz syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA475860997

rs_1949267339

2 SubmittersRCV002153625 RCV003886568

NM_001360.3(DHCR7):c.1211G>A (p.Arg404His)

SNV
Germline

Chr11:71435592

Likely pathogenic

Condition: not provided
Smith-Lemli-Opitz syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA381701465

rs_1949268223

2 SubmittersRCV002211197 RCV003507402

NM_001360.3(DHCR7):c.197G>A (p.Cys66Tyr)

SNV
Germline

Chr11:71444117

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381696534

rs_2120355008

1 SubmittersRCV002249025

NM_001360.3(DHCR7):c.1351T>C (p.Cys451Arg)

SNV
Germline

Chr11:71435452

Pathogenic/Likely pathogenic

Smith-Lemli-Opitz syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA6162251

rs_761458977

4 SubmittersRCV002289056 RCV003154241

NM_001360.3(DHCR7):c.473G>A (p.Trp158Ter)

SNV
Germline

Chr11:71441380

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381694608

rs_1343783336

1 SubmittersRCV002308585

NM_001360.3(DHCR7):c.567T>A (p.Tyr189Ter)

SNV
Unknown

Chr11:71441286

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381694407

rs_2539227728

1 SubmittersRCV002309936

NM_001360.3(DHCR7):c.305T>A (p.Leu102Ter)

SNV
Unknown

Chr11:71444009

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381695940

rs_1342235041

1 SubmittersRCV002310196

NM_001360.3(DHCR7):c.439G>A (p.Gly147Ser)

SNV
Germline

Chr11:71441414

Conflicting classifications of pathogenicity

Inborn genetic diseases
Smith-Lemli-Opitz syndrome

Criteria Provided
Conflicting Classifications

CA381694674

rs_1248898751

2 SubmittersRCV002333704 RCV005002827

NM_001360.3(DHCR7):c.1397T>C (p.Val466Ala)

SNV
Germline

Chr11:71435406

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381700493

rs_2539207660

1 SubmittersRCV003062426

NM_001360.3(DHCR7):c.1039G>A (p.Gly347Ser)

SNV
Germline

Chr11:71435764

Pathogenic

Smith-Lemli-Opitz syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA381702314

rs_2135940013

2 SubmittersRCV003062427 RCV005433302

NM_001360.3(DHCR7):c.818T>G (p.Val273Gly)

SNV
Germline

Chr11:71438892

Conflicting classifications of pathogenicity

Smith-Lemli-Opitz syndrome
not specified

Criteria Provided
Conflicting Classifications

CA381703209

rs_2539220754

2 SubmittersRCV003062429 RCV003235759

NM_001360.3(DHCR7):c.683G>A (p.Arg228Gln)

SNV
Germline

Chr11:71439027

Conflicting classifications of pathogenicity

Smith-Lemli-Opitz syndrome

Criteria Provided
Conflicting Classifications

CA6162490

rs_201556114

2 SubmittersRCV003062430

NM_001360.3(DHCR7):c.533T>A (p.Ile178Asn)

SNV
Germline

Chr11:71441320

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381694480

rs_2539227981

1 SubmittersRCV003058338

NM_001360.3(DHCR7):c.952T>C (p.Tyr318His)

SNV
Germline

Chr11:71437823

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381702898

rs_1177326550

1 SubmittersRCV003071562

NM_001360.3(DHCR7):c.249G>A (p.Ser83=)

SNV
Germline

Chr11:71444065

Conflicting classifications of pathogenicity

Smith-Lemli-Opitz syndrome

Criteria Provided
Conflicting Classifications

CA6162653

rs_759192320

2 SubmittersRCV003085460

NM_001360.3(DHCR7):c.1348C>T (p.Arg450Cys)

SNV
Germline

Chr11:71435455

Likely pathogenic

Smith-Lemli-Opitz syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA6162254

rs_765154144

2 SubmittersRCV002587904 RCV005434003

NM_001360.3(DHCR7):c.88G>A (p.Gly30Ser)

SNV
Germline

Chr11:71444865

Conflicting classifications of pathogenicity

Smith-Lemli-Opitz syndrome

Criteria Provided
Conflicting Classifications

CA381696867

rs_1222259994

2 SubmittersRCV002632114

NM_001360.3(DHCR7):c.1040G>T (p.Gly347Val)

SNV
Germline

Chr11:71435763

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA6162329

rs_770174208

1 SubmittersRCV002775319

NM_001360.3(DHCR7):c.1404C>G (p.Tyr468Ter)

SNV
Germline

Chr11:71435399

Pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381700465

rs_1949262812

1 SubmittersRCV002797174

NM_001360.3(DHCR7):c.474G>A (p.Trp158Ter)

SNV
Germline

Chr11:71441379

Pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381694605

rs_766443353

1 SubmittersRCV002871775

NM_001360.3(DHCR7):c.546G>T (p.Trp182Cys)

SNV
Germline

Chr11:71441307

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381694454

rs_1032242817

1 SubmittersRCV002867733

NM_001360.3(DHCR7):c.725G>C (p.Arg242Pro)

SNV
Germline

Chr11:71438985

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA381703399

rs_80338857

2 SubmittersRCV002894712

NM_001360.3(DHCR7):c.412+2T>C

SNV
Germline

Chr11:71442261

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381694739

rs_2539231409

1 SubmittersRCV003029615

NM_001360.3(DHCR7):c.1385A>G (p.Tyr462Cys)

SNV
Germline

Chr11:71435418

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381700543

rs_2135939447

1 SubmittersRCV003054609

NM_001360.3(DHCR7):c.1113G>A (p.Trp371Ter)

SNV
Germline

Chr11:71435690

Pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381701992

rs_1294449428

1 SubmittersRCV003066242

NM_001360.3(DHCR7):c.99G>A (p.Trp33Ter)

SNV
Unknown

Chr11:71444215

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381696764

rs_2539237303

1 SubmittersRCV003148487

NM_001360.3(DHCR7):c.911G>A (p.Trp304Ter)

SNV
Germline

Chr11:71437864

Pathogenic/Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA381702993

rs_2539216620

2 SubmittersRCV003225697

NM_001360.3(DHCR7):c.248C>A (p.Ser83Ter)

SNV
Germline

Chr11:71444066

Pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381696328

rs_764847274

1 SubmittersRCV003508112

NM_001360.3(DHCR7):c.908G>A (p.Gly303Glu)

SNV
Germline

Chr11:71437867

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381702999

rs_2539216631

1 SubmittersRCV003508418

NM_001360.3(DHCR7):c.187C>T (p.Gln63Ter)

SNV
Germline

Chr11:71444127

Pathogenic/Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA381696573

rs_1372014207

2 SubmittersRCV003508253

NM_001360.3(DHCR7):c.89G>A (p.Gly30Asp)

SNV
Germline

Chr11:71444864

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381696865

rs_200334114

1 SubmittersRCV003508456

NM_001360.3(DHCR7):c.877A>T (p.Lys293Ter)

SNV
Germline

Chr11:71437898

Pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381703070

rs_1591109039

1 SubmittersRCV003508828

NM_001360.3(DHCR7):c.901C>A (p.His301Asn)

SNV
Germline

Chr11:71437874

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381703014

rs_1267495194

1 SubmittersRCV003508913

NM_001360.3(DHCR7):c.986C>T (p.Pro329Leu)

SNV
Germline

Chr11:71435817

Pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381702529

rs_2539210698

1 SubmittersRCV003508852

NM_001360.3(DHCR7):c.546G>C (p.Trp182Cys)

SNV
Germline

Chr11:71441307

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381694455

rs_1032242817

1 SubmittersRCV003508853

NM_001360.3(DHCR7):c.373T>C (p.Tyr125His)

SNV
Germline

Chr11:71442302

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381694948

rs_1949357539

1 SubmittersRCV003506797

NM_001360.3(DHCR7):c.862G>T (p.Glu288Ter)

SNV
Germline

Chr11:71437913

Pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381703104

rs_565893436

1 SubmittersRCV003507120

NM_001360.3(DHCR7):c.725G>T (p.Arg242Leu)

SNV
Germline

Chr11:71438985

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381703398

rs_80338857

1 SubmittersRCV003506943

NM_001360.3(DHCR7):c.817G>A (p.Val273Ile)

SNV
Germline

Chr11:71438893

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381703214

rs_2539220764

1 SubmittersRCV003507969

NM_001360.3(DHCR7):c.1365C>A (p.Tyr455Ter)

SNV
Germline

Chr11:71435438

Pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381700622

rs_557097410

1 SubmittersRCV003507798

NM_001360.3(DHCR7):c.110G>A (p.Trp37Ter)

SNV
Germline

Chr11:71444204

Pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381696736

rs_2539237238

1 SubmittersRCV003618108

NM_001360.3(DHCR7):c.1399C>T (p.Pro467Ser)

SNV
Germline

Chr11:71435404

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381700486

rs_750211727

1 SubmittersRCV003618208

NM_001360.3(DHCR7):c.907G>C (p.Gly303Arg)

SNV
Germline

Chr11:71437868

Pathogenic/Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA381703000

rs_142808899

3 SubmittersRCV003618247

NM_001360.3(DHCR7):c.1224C>G (p.Tyr408Ter)

SNV
Germline

Chr11:71435579

Pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381701393

rs_777148033

1 SubmittersRCV003618213

NM_001360.3(DHCR7):c.1352G>T (p.Cys451Phe)

SNV
Germline

Chr11:71435451

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381700677

rs_1325144749

1 SubmittersRCV003618289

NM_001360.3(DHCR7):c.770C>G (p.Ala257Gly)

SNV
Germline

Chr11:71438940

Pathogenic/Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA381703312

rs_770925697

2 SubmittersRCV003618308

NM_001360.3(DHCR7):c.964-2A>C

SNV
Germline

Chr11:71435841

Pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381702596

rs_2539210878

1 SubmittersRCV003618388

NM_001360.3(DHCR7):c.904T>G (p.Phe302Val)

SNV
Germline

Chr11:71437871

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381703006

rs_2539216665

1 SubmittersRCV003618420

NM_001360.3(DHCR7):c.375C>G (p.Tyr125Ter)

SNV
Germline

Chr11:71442300

Pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381694936

rs_779401555

1 SubmittersRCV003618647

NM_001360.3(DHCR7):c.926G>A (p.Gly309Asp)

SNV
Germline

Chr11:71437849

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381702956

rs_1565586046

1 SubmittersRCV003618525

NM_001360.3(DHCR7):c.152C>T (p.Pro51Leu)

SNV
Germline

Chr11:71444162

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381696652

rs_1949379416

1 SubmittersRCV003618571

NM_001360.3(DHCR7):c.838T>G (p.Tyr280Asp)

SNV
Germline

Chr11:71437937

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381703160

rs_2539217163

1 SubmittersRCV003617491

NM_001360.3(DHCR7):c.375C>A (p.Tyr125Ter)

SNV
Germline

Chr11:71442300

Pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381694934

rs_779401555

1 SubmittersRCV003617543

NM_001360.3(DHCR7):c.76C>T (p.Gln26Ter)

SNV
Germline

Chr11:71444877

Pathogenic/Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA381696893

rs_1949389789

2 SubmittersRCV003617668

NM_001360.3(DHCR7):c.651C>G (p.Tyr217Ter)

SNV
Germline

Chr11:71439059

Pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381703659

rs_749076525

1 SubmittersRCV003617751

NM_001360.3(DHCR7):c.278C>A (p.Thr93Lys)

SNV
Germline

Chr11:71444036

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381696172

rs_80338853

1 SubmittersRCV003829575

NM_001360.3(DHCR7):c.98+1G>T

SNV
Germline

Chr11:71444854

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

CA381696847

rs_2539239056

1 SubmittersRCV003853217

NM_001360.3(DHCR7):c.413-12C>T

SNV
Germline

Chr11:71441452

Conflicting classifications of pathogenicity

Smith-Lemli-Opitz syndrome

Criteria Provided
Conflicting Classifications

CA6162565

rs_762754951

2 SubmittersRCV003877011

NM_001360.3(DHCR7):c.1327C>G (p.Arg443Gly)

SNV
Germline

Chr11:71435476

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA381700830

rs_535561852

2 SubmittersRCV004526570

NM_001360.3(DHCR7):c.963+1G>A

SNV
Germline

Chr11:71437811

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004690676

NM_001360.3(DHCR7):c.1349G>T (p.Arg450Leu)

SNV
Germline

Chr11:71435454

Pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005006671

NM_001360.3(DHCR7):c.831+1G>T

SNV
Germline

Chr11:71438878

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005006676

NM_001360.3(DHCR7):c.523G>C (p.Asp175His)

SNV
Germline

Chr11:71441330

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005006682

NM_001360.3(DHCR7):c.98+1G>C

SNV
Germline

Chr11:71444854

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005004675

NM_001360.3(DHCR7):c.98+2T>C

SNV
Germline

Chr11:71444853

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005130324

NM_001360.3(DHCR7):c.938G>A (p.Trp313Ter)

SNV
Germline

Chr11:71437837

Pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005185238

NM_001360.3(DHCR7):c.1211G>T (p.Arg404Leu)

SNV
Germline

Chr11:71435592

Likely pathogenic

Smith-Lemli-Opitz syndrome

Criteria Provided
Single Submitter

2 SubmittersRCV005200700

NM_001360.3(DHCR7):c.963+1G>C

SNV
Germline

Chr11:71437811

Likely pathogenic

Smith-Lemli-Opitz syndrome

No Assertion Criteria Provided

1 SubmittersRCV005619137

NM_001360.3(DHCR7):c.906C>A (p.Phe302Leu)

SNV
Germline

Chr11:71437869

Likely pathogenic

Smith-Lemli-Opitz syndrome

No Assertion Criteria Provided

1 SubmittersRCV005619187