Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln)	SNV Germline/somatic	Chr2:31529325	Pathogenic/Likely pathogenic	Micropenis Condition: not provided 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Autism spectrum disorder SRD5A2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA116158	rs_9332964	14 SubmittersRCV000003515 RCV000083663 RCV000288398 RCV003313913 RCV003944795
NM_000901.5(NR3C2):c.1609C>T (p.Arg537Ter)	SNV Germline	Chr4:148435252	Pathogenic	Autosomal dominant pseudohypoaldosteronism type 1 Autism spectrum disorder	Criteria Provided Single Submitter	CA119730	rs_121912562	2 SubmittersRCV000009086 RCV000754683
NM_001170629.2(CHD8):c.3519-2A>G	SNV Germline	Chr14:21403214	Pathogenic	Intellectual developmental disorder with autism and macrocephaly Condition: not provided Autism spectrum disorder	Criteria Provided Single Submitter		rs_1594344233	3 SubmittersRCV000032828 RCV001555708 RCV001291274
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn)	SNV Germline/somatic	Chr15:66435145	Pathogenic	RASopathy Condition: not provided Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 3 Melanoma Non-small cell lung carcinoma Autism spectrum disorder Noonan syndrome Cardio-facio-cutaneous syndrome MAP2K1-related RASopathy Cardiovascular phenotype Melorheostosis Cardiofaciocutaneous syndrome 3	Reviewed By Expert Panel	CA180743	rs_727504317	16 SubmittersRCV000158004 RCV000212506 RCV000208771 RCV000192193 RCV000423708 RCV000439184 RCV000754677 RCV000844673 RCV001095724 RCV002415455 RCV003224114
NM_000368.5(TSC1):c.346T>G (p.Leu116Val)	SNV Germline	Chr9:132925604	Conflicting classifications of pathogenicity	Autism spectrum disorder Tuberous sclerosis syndrome not specified Hereditary cancer-predisposing syndrome Isolated focal cortical dysplasia type II Condition: not provided Tuberous sclerosis 1 TSC1-related disorder	Criteria Provided Conflicting Classifications	CA007386	rs_199620268	16 SubmittersRCV000055027 RCV000055005 RCV000122184 RCV000163292 RCV000372436 RCV000725839 RCV001080106 RCV003934997
NM_000548.5(TSC2):c.2632C>T (p.Pro878Ser)	SNV Germline	Chr16:2075885	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Autism spectrum disorder not specified Hereditary cancer-predisposing syndrome Tuberous sclerosis 2	Criteria Provided Conflicting Classifications	CA017740	rs_397515077	8 SubmittersRCV000055315 RCV000055380 RCV000189909 RCV000562671 RCV000644061
NM_000548.5(TSC2):c.190A>G (p.Ile64Val)	SNV Germline	Chr16:2050451	Conflicting classifications of pathogenicity	Autism spectrum disorder Tuberous sclerosis 2 Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome Isolated focal cortical dysplasia type II	Criteria Provided Conflicting Classifications	CA016191	rs_397515081	7 SubmittersRCV000055320 RCV000644085 RCV001118864 RCV002408557 RCV003466927
NM_000548.5(TSC2):c.5072T>C (p.Met1691Thr)	SNV Germline	Chr16:2088051	Conflicting classifications of pathogenicity	Autism spectrum disorder Tuberous sclerosis 2 Tuberous sclerosis syndrome TSC2-related disorder Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA021670	rs_397515110	5 SubmittersRCV000055361 RCV000644174 RCV003996478 RCV004537241 RCV002336202
NM_000548.5(TSC2):c.5155G>A (p.Ala1719Thr)	SNV Germline	Chr16:2088134	Conflicting classifications of pathogenicity	Autism spectrum disorder Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Condition: not provided Tuberous sclerosis syndrome	Criteria Provided Conflicting Classifications	CA021901	rs_201206500	6 SubmittersRCV000055435 RCV000468508 RCV000572428 RCV003162430 RCV003996480
NM_000548.5(TSC2):c.3989C>T (p.Thr1330Met)	SNV Germline	Chr16:2083800	Conflicting classifications of pathogenicity	Autism spectrum disorder Tuberous sclerosis syndrome not specified Hereditary cancer-predisposing syndrome Condition: not provided Tuberous sclerosis 2 TSC2-related disorder	Criteria Provided Conflicting Classifications	CA019782	rs_397515209	9 SubmittersRCV000055507 RCV000055604 RCV000190025 RCV000571810 RCV001703964 RCV000458400 RCV004542721
NM_000548.5(TSC2):c.454C>G (p.His152Asp)	SNV Germline	Chr16:2054413	Conflicting classifications of pathogenicity	Autism spectrum disorder Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Condition: not provided Tuberous sclerosis syndrome	Criteria Provided Conflicting Classifications	CA020642	rs_397515285	7 SubmittersRCV000055607 RCV000465969 RCV000575914 RCV001557660 RCV003996482
NM_004667.6(HERC2):c.1781C>T (p.Pro594Leu)	SNV Germline	Chr15:28265707	Pathogenic	Developmental delay with autism spectrum disorder and gait instability	No Assertion Criteria Provided	CA145326	rs_397518474	1 SubmittersRCV000074397
NM_012243.3(SLC35A3):c.514C>T (p.Gln172Ter)	SNV Germline	Chr1:100011413	Pathogenic	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	Criteria Provided Multiple Submitters No Conflicts	CA145445	rs_398122524	3 SubmittersRCV000074503
NM_012243.3(SLC35A3):c.886A>G (p.Ser296Gly)	SNV Germline	Chr1:100017814	Pathogenic	Autism spectrum disorder - epilepsy - arthrogryposis syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA145448	rs_141952252	6 SubmittersRCV000074504 RCV001588895
NM_000540.3(RYR1):c.742G>C (p.Gly248Arg)	SNV Germline	Chr19:38446710	Pathogenic	Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Autism spectrum disorder due to AUTS2 deficiency	Reviewed By Expert Panel	CA024799	rs_1801086	8 SubmittersRCV000119714 RCV000704587 RCV002281946 RCV003330082
NM_001282531.3(ADNP):c.1211C>A (p.Ser404Ter)	SNV Germline	Chr20:50893503	Pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	No Assertion Criteria Provided	CA163343	rs_587777524	1 SubmittersRCV000128576
NM_001282531.3(ADNP):c.2157C>G (p.Tyr719Ter)	SNV Germline	Chr20:50892557	Pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA163346	rs_587777526	12 SubmittersRCV000128578 RCV000190684 RCV000483727
NM_001083962.2(TCF4):c.469C>T (p.Arg157Ter)	SNV Germline	Chr18:55350904	Pathogenic	Pitt-Hopkins syndrome Condition: not provided Autism spectrum disorder	Criteria Provided Multiple Submitters No Conflicts	CA272709	rs_587784464	4 SubmittersRCV000147723 RCV000484787 RCV003313939
NM_000719.7(CACNA1C):c.2684G>A (p.Arg895His)	SNV Germline	Chr12:2595894	Conflicting classifications of pathogenicity	Condition: not provided Long QT syndrome Autism spectrum disorder	Criteria Provided Conflicting Classifications	CA301420	rs_786205755	3 SubmittersRCV000170794 RCV000465144 RCV003126565
NM_001374828.1(ARID1B):c.2902C>T (p.Arg968Ter)	SNV Germline	Chr6:157148764	Pathogenic	Condition: not provided Coffin-Siris syndrome 1 ARID1B-related BAFopathy Autism spectrum disorder	Criteria Provided Multiple Submitters No Conflicts	CA203785	rs_794727977	7 SubmittersRCV000358610 RCV001330749 RCV001533110 RCV001291271
NM_002397.5(MEF2C):c.766C>T (p.Arg256Ter)	SNV Germline	Chr5:88731773	Pathogenic	Autism spectrum disorder Intellectual disability 5q14.3 microdeletion syndrome Intellectual disability, autosomal dominant 20	Criteria Provided Multiple Submitters No Conflicts		rs_796052733	4 SubmittersRCV000754665 RCV001257689 RCV001813767 RCV001852474
NM_002397.5(MEF2C):c.43C>T (p.Arg15Cys)	SNV Germline	Chr5:88823746	Pathogenic/Likely pathogenic	Condition: not provided Autism spectrum disorder Intellectual disability, autosomal dominant 20	Criteria Provided Multiple Submitters No Conflicts	CA315916	rs_796052728	3 SubmittersRCV000188145 RCV001291376 RCV002514022
NM_000548.5(TSC2):c.1081C>G (p.Leu361Val)	SNV Germline	Chr16:2060775	Conflicting classifications of pathogenicity	Condition: not provided Tuberous sclerosis 2 Autism spectrum disorder Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Isolated focal cortical dysplasia type II	Criteria Provided Conflicting Classifications	CA319427	rs_796053483	8 SubmittersRCV000189974 RCV000812345 RCV000754678 RCV002257481 RCV003996880 RCV003462292
NM_004667.6(HERC2):c.2747-3C>A	SNV Germline	Chr15:28255999	Conflicting classifications of pathogenicity	not specified Condition: not provided Developmental delay with autism spectrum disorder and gait instability	Criteria Provided Conflicting Classifications	CA249420	rs_200632307	5 SubmittersRCV000203211 RCV000727185 RCV003147405
NM_024757.5(EHMT1):c.3413G>A (p.Trp1138Ter)	SNV Germline	Chr9:137817477	Pathogenic	Autism spectrum disorder Kleefstra syndrome 1	Criteria Provided Single Submitter	CA10575851	rs_886037776	1 SubmittersRCV000241547
NM_018718.3(CEP41):c.320C>G (p.Ala107Gly)	SNV Germline	Chr7:130404666	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome 15 Familial Autism Spectrum Disorder	Criteria Provided Conflicting Classifications	CA4485603	rs_141025803	4 SubmittersRCV000224397 RCV000265231 RCV001261713
NM_017947.4(MOCOS):c.2326C>T (p.Arg776Cys)	SNV Germline	Chr18:36260092	Likely pathogenic	Xanthinuria type II Autism spectrum disorder	Criteria Provided Single Submitter	CA8941021	rs_750896617	3 SubmittersRCV000239542 RCV003313948
NM_001330700.2(TOP2B):c.187C>T (p.His63Tyr)	SNV Germline	Chr3:25645353	Likely pathogenic	Autism spectrum disorder	No Assertion Criteria Provided	CA10588830	rs_886039770	1 SubmittersRCV000256202
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter)	SNV Germline	Chr20:50892526	Pathogenic/Likely pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 8 conditions Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA10602716	rs_886041116	19 SubmittersRCV000258940 RCV000414762 RCV000497305 RCV000623455
NM_001282531.3(ADNP):c.2157C>A (p.Tyr719Ter)	SNV Germline	Chr20:50892557	Pathogenic	Condition: not provided ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	Criteria Provided Multiple Submitters No Conflicts	CA10603669	rs_587777526	5 SubmittersRCV000404317 RCV001265359
NM_022552.5(DNMT3A):c.1903C>T (p.Arg635Trp)	SNV Germline	Chr2:25243931	Conflicting classifications of pathogenicity	Tatton-Brown-Rahman overgrowth syndrome Condition: not provided Heyn-Sproul-Jackson syndrome Acute myeloid leukemia Tatton-Brown-Rahman overgrowth syndrome Tatton-Brown-Rahman overgrowth syndrome Autism spectrum disorder	Criteria Provided Conflicting Classifications	CA1555830	rs_144689354	5 SubmittersRCV000367312 RCV000433567 RCV003883148 RCV003313065
NM_000341.4(SLC3A1):c.808C>T (p.Arg270Ter)	SNV Germline	Chr2:44286074	Pathogenic	Cystinuria Condition: not provided Autism spectrum disorder	Criteria Provided Multiple Submitters No Conflicts	CA1640281	rs_200483989	9 SubmittersRCV000332132 RCV001723928 RCV003313951
NM_018718.3(CEP41):c.988G>C (p.Ala330Pro)	SNV Germline	Chr7:130399025	Conflicting classifications of pathogenicity	Joubert syndrome 15 Familial Autism Spectrum Disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA4485413	rs_368525533	4 SubmittersRCV000354546 RCV001261664 RCV003430934
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala)	SNV Germline	Chr7:130401907	Conflicting classifications of pathogenicity	not specified Joubert syndrome 15 Condition: not provided Familial Autism Spectrum Disorder CEP41-related disorder	Criteria Provided Conflicting Classifications	CA4485523	rs_143303575	9 SubmittersRCV000483238 RCV000878420 RCV001702359 RCV001261666 RCV003922590
NM_012309.5(SHANK2):c.900C>T (p.His300=)	SNV Germline	Chr11:71092434	Conflicting classifications of pathogenicity	Autism spectrum disorder SHANK2-related disorder	Criteria Provided Conflicting Classifications	CA6162059	rs_529058522	2 SubmittersRCV000356515 RCV004544518
NM_012309.5(SHANK2):c.613G>T (p.Ala205Ser)	SNV Germline	Chr11:71094668	Conflicting classifications of pathogenicity	Autism spectrum disorder SHANK2-related disorder	Criteria Provided Conflicting Classifications	CA6162097	rs_189053721	2 SubmittersRCV000273870 RCV004544519
NM_012309.5(SHANK2):c.51C>T (p.Ser17=)	SNV Germline	Chr11:71147276	Conflicting classifications of pathogenicity	Autism spectrum disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA6162188	rs_376267466	2 SubmittersRCV000365781 RCV003401304
NM_012309.5(SHANK2):c.332G>A (p.Arg111His)	SNV Germline	Chr11:71118908	Conflicting classifications of pathogenicity	Autism spectrum disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6162146	rs_368652424	2 SubmittersRCV000336199 RCV002520758
NM_012309.5(SHANK2):c.7C>T (p.Arg3Cys)	SNV Germline	Chr11:71147320	Conflicting classifications of pathogenicity	Autism spectrum disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6162193	rs_373379917	2 SubmittersRCV000271211 RCV002520760
NM_003097.6(SNRPN):c.3+10A>G	SNV Germline	Chr15:24974466	Conflicting classifications of pathogenicity	Autism spectrum disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA7431255	rs_112560608	2 SubmittersRCV000372539 RCV000951127
NM_012309.5(SHANK2):c.625G>A (p.Asp209Asn)	SNV Germline	Chr11:71094656	Conflicting classifications of pathogenicity	Autism spectrum disorder Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA6162095	rs_183556625	3 SubmittersRCV000368364 RCV002522203 RCV003409474
NM_012309.5(SHANK2):c.168G>A (p.Thr56=)	SNV Germline	Chr11:71147159	Conflicting classifications of pathogenicity	Autism spectrum disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA6162169	rs_150944234	2 SubmittersRCV000400062 RCV003401303
NM_012309.5(SHANK2):c.771A>G (p.Pro257=)	SNV Germline	Chr11:71092563	Conflicting classifications of pathogenicity	Autism spectrum disorder SHANK2-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA6162070	rs_200821952	3 SubmittersRCV000298133 RCV004537724 RCV003884455
NM_012309.5(SHANK2):c.581C>T (p.Pro194Leu)	SNV Germline	Chr11:71109952	Conflicting classifications of pathogenicity	Autism spectrum disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA6162108	rs_782210973	3 SubmittersRCV000328964 RCV003401302
NM_012309.5(SHANK2):c.136G>A (p.Gly46Ser)	SNV Germline	Chr11:71147191	Conflicting classifications of pathogenicity	Autism spectrum disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6162175	rs_201642016	2 SubmittersRCV000311122 RCV002520759
NM_003097.6(SNRPN):c.183T>C (p.Arg61=)	SNV Germline	Chr15:24976332	Conflicting classifications of pathogenicity	Autism spectrum disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA7431310	rs_373215950	2 SubmittersRCV000261541 RCV000909620
NM_001282531.3(ADNP):c.1102C>T (p.Gln368Ter)	SNV Germline	Chr20:50893612	Conflicting classifications of pathogenicity	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA10653227	rs_886056775	3 SubmittersRCV000269400 RCV003229829
NM_022552.5(DNMT3A):c.2711C>T (p.Pro904Leu)	SNV Germline/somatic	Chr2:25234307	Pathogenic/Likely pathogenic	Condition: not provided Tatton-Brown-Rahman overgrowth syndrome Autism spectrum disorder EBV-positive nodal T- and NK-cell lymphoma	Criteria Provided Multiple Submitters No Conflicts	CA1555464	rs_149095705	4 SubmittersRCV000413992 RCV003233631 RCV004559047
NM_015570.4(AUTS2):c.1483C>T (p.Arg495Ter)	SNV Germline	Chr7:70766128	Pathogenic	Condition: not provided Intellectual disability Autism spectrum disorder due to AUTS2 deficiency	Criteria Provided Multiple Submitters No Conflicts	CA16042597	rs_1057517708	5 SubmittersRCV000413202 RCV001260885 RCV001841277
NM_001282531.3(ADNP):c.2213C>G (p.Ser738Ter)	SNV Germline	Chr20:50892501	Pathogenic	Condition: not provided Inborn genetic diseases ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder See cases	Criteria Provided Multiple Submitters No Conflicts	CA16608474	rs_779340209	4 SubmittersRCV000428470 RCV000622544 RCV001618684 RCV003985350
NM_000188.3(HK1):c.1334C>T (p.Ser445Leu)	SNV Germline	Chr10:69382555	Pathogenic/Likely pathogenic	Condition: not provided Neurodevelopmental disorder with visual defects and brain anomalies Inborn genetic diseases Retinitis pigmentosa 79 Retinitis pigmentosa Hemolytic anemia due to hexokinase deficiency Autism spectrum disorder	Criteria Provided Multiple Submitters No Conflicts	CA16618972	rs_1064794848	14 SubmittersRCV000483739 RCV000850128 RCV001266687 RCV001254702 RCV001270352 RCV001770372 RCV003126749
NM_001170629.2(CHD8):c.3308G>T (p.Gly1103Val)	SNV Germline	Chr14:21403663	Likely pathogenic	Condition: not provided Intellectual developmental disorder with autism and macrocephaly Autism spectrum disorder CHD8-related disorder	Criteria Provided Single Submitter	CA16619836	rs_1064795655	3 SubmittersRCV000484621 RCV000709955 RCV001265457 RCV004551589
NM_015570.4(AUTS2):c.1295C>A (p.Pro432His)	SNV Germline	Chr7:70764832	Conflicting classifications of pathogenicity	Condition: not provided Autism spectrum disorder due to AUTS2 deficiency AUTS2-related disorder	Criteria Provided Conflicting Classifications	CA4280613	rs_767529359	4 SubmittersRCV000488170 RCV000626221 RCV003962354
NM_001170629.2(CHD8):c.2854C>T (p.Arg952Ter)	SNV Germline	Chr14:21406909	Pathogenic	Condition: not provided Autism spectrum disorder	Criteria Provided Single Submitter	CA388873929	rs_1131691548	2 SubmittersRCV000493912 RCV001265458
NM_001282531.3(ADNP):c.517C>T (p.Arg173Ter)	SNV Germline	Chr20:50894197	Pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA408977537	rs_1135401791	3 SubmittersRCV000496157 RCV001008669
NM_001282531.3(ADNP):c.2617G>T (p.Asp873Tyr)	SNV Germline	Chr20:50892097	Conflicting classifications of pathogenicity	not specified ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA9908560	rs_147299402	4 SubmittersRCV000499393 RCV000764249 RCV001545023
NM_004667.6(HERC2):c.8342G>C (p.Ser2781Thr)	SNV Germline	Chr15:28192070	Conflicting classifications of pathogenicity	Condition: not provided Developmental delay with autism spectrum disorder and gait instability Inborn genetic diseases HERC2-related disorder	Criteria Provided Conflicting Classifications	CA7441503	rs_146558015	4 SubmittersRCV000520647 RCV002289713 RCV002528277 RCV003962454
NM_004667.6(HERC2):c.4625G>A (p.Arg1542His)	SNV Germline	Chr15:28233196	Conflicting classifications of pathogenicity	Condition: not provided Developmental delay with autism spectrum disorder and gait instability	Criteria Provided Conflicting Classifications	CA7442599	rs_112385654	3 SubmittersRCV000522564 RCV003993998
NM_001170629.2(CHD8):c.4378C>T (p.Arg1460Ter)	SNV Germline	Chr14:21400605	Pathogenic	Intellectual developmental disorder with autism and macrocephaly Autism spectrum disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA388894481	rs_1454466097	3 SubmittersRCV000578341 RCV001265455 RCV002263815
NM_015570.4(AUTS2):c.946C>T (p.Arg316Ter)	SNV Germline	Chr7:70763073	Pathogenic/Likely pathogenic	Condition: not provided Autism spectrum disorder due to AUTS2 deficiency	Criteria Provided Multiple Submitters No Conflicts	CA367667532	rs_1554480537	5 SubmittersRCV000579225 RCV000677402
NM_001040142.2(SCN2A):c.2548C>T (p.Arg850Ter)	SNV Germline	Chr2:165342455	Pathogenic/Likely pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 11 Seizures, benign familial infantile, 3 Autism spectrum disorder See cases	Criteria Provided Multiple Submitters No Conflicts	CA349012892	rs_1553578503	5 SubmittersRCV000585495 RCV001055515 RCV003126828 RCV002252172
NM_001282531.3(ADNP):c.1337G>A (p.Trp446Ter)	SNV Germline	Chr20:50893377	Pathogenic	Inborn genetic diseases ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	Criteria Provided Multiple Submitters No Conflicts	CA408973839	rs_1555810308	2 SubmittersRCV000623945 RCV002506518
NM_001282531.3(ADNP):c.201G>C (p.Gln67His)	SNV Germline	Chr20:50902017	Likely pathogenic	Inborn genetic diseases ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	Criteria Provided Single Submitter	CA408981383	rs_1555812161	2 SubmittersRCV000622881 RCV001265428
NM_004667.6(HERC2):c.9710T>A (p.Leu3237Ter)	SNV Germline	Chr15:28175633	Pathogenic	Developmental delay with autism spectrum disorder and gait instability	Criteria Provided Single Submitter	CA391382866	rs_1555415658	1 SubmittersRCV000626149
NM_012243.3(SLC35A3):c.481C>T (p.Gln161Ter)	SNV Germline	Chr1:100011380	Conflicting classifications of pathogenicity	Autism spectrum disorder - epilepsy - arthrogryposis syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA341314931	rs_1553203137	2 SubmittersRCV000651915 RCV000731886
NM_012243.3(SLC35A3):c.342+1G>A	SNV Germline	Chr1:99999416	Likely pathogenic	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	Criteria Provided Single Submitter	CA341326777	rs_1553201582	1 SubmittersRCV000651919
NM_015570.4(AUTS2):c.742+1G>A	SNV Germline	Chr7:70698621	Pathogenic	Condition: not provided Autism spectrum disorder due to AUTS2 deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_1554464807	2 SubmittersRCV000657847 RCV001199170
NM_015570.4(AUTS2):c.1247A>G (p.Gln416Arg)	SNV Germline	Chr7:70764784	Conflicting classifications of pathogenicity	Autism spectrum disorder due to AUTS2 deficiency Condition: not provided	Criteria Provided Conflicting Classifications		rs_143679158	3 SubmittersRCV000660603 RCV001570820
NM_015100.4(POGZ):c.757C>T (p.Pro253Ser)	SNV Germline	Chr1:151428225	Conflicting classifications of pathogenicity	Autism spectrum disorder Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_926772662	3 SubmittersRCV000754542 RCV001558701 RCV002315987
NM_002397.5(MEF2C):c.403-1G>T	SNV Germline	Chr5:88752044	Pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter		rs_1561824498	1 SubmittersRCV000754666
NM_014141.6(CNTNAP2):c.1778-1G>C	SNV Germline	Chr7:147562137	Likely pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter		rs_1396313317	1 SubmittersRCV000754684
NM_152722.5(HEPACAM):c.803+1G>A	SNV Germline	Chr11:124923339	Conflicting classifications of pathogenicity	Autism spectrum disorder Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability	Criteria Provided Conflicting Classifications		rs_375712202	2 SubmittersRCV000754671 RCV003448336
NM_021008.4(DEAF1):c.664+2T>G	SNV Germline	Chr11:687909	Likely pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter		rs_1564950387	1 SubmittersRCV000754682
NM_002972.4(SBF1):c.1180G>T (p.Glu394Ter)	SNV Germline	Chr22:50465238	Likely pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter		rs_1569513495	1 SubmittersRCV000754681
NM_015570.4(AUTS2):c.1603C>T (p.His535Tyr)	SNV Germline	Chr7:70766248	Likely pathogenic	Autism spectrum disorder due to AUTS2 deficiency	Criteria Provided Single Submitter		rs_1563183492	1 SubmittersRCV000708594
NM_001282531.3(ADNP):c.356A>G (p.Lys119Arg)	SNV Germline	Chr20:50894358	Conflicting classifications of pathogenicity	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications		rs_182284347	3 SubmittersRCV001265426 RCV002315418 RCV002534573
NM_001282531.3(ADNP):c.733G>T (p.Glu245Ter)	SNV Germline	Chr20:50893981	Pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	Criteria Provided Single Submitter			1 SubmittersRCV000760200
NM_015570.4(AUTS2):c.376C>T (p.Arg126Ter)	SNV Germline	Chr7:69899352	Pathogenic/Likely pathogenic	Condition: not provided Intellectual disability, autosomal dominant 57 Autism spectrum disorder due to AUTS2 deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_1562957809	6 SubmittersRCV000760625 RCV002227495 RCV003224878
NM_015570.4(AUTS2):c.1600A>C (p.Thr534Pro)	SNV Germline	Chr7:70766245	Likely pathogenic	Multiple congenital anomalies Corpus callosum, agenesis of Autism spectrum disorder due to AUTS2 deficiency Congenital cerebellar hypoplasia	No Assertion Criteria Provided		rs_1563183469	2 SubmittersRCV000779651 RCV001257949
NM_003036.4(SKI):c.898C>T (p.Leu300Phe)	SNV Germline	Chr1:2229664	Conflicting classifications of pathogenicity	Condition: not provided Shprintzen-Goldberg syndrome Familial thoracic aortic aneurysm and aortic dissection Autism spectrum disorder	Criteria Provided Conflicting Classifications		rs_1569660908	4 SubmittersRCV001766666 RCV000803354 RCV002370130 RCV003127469
NM_015570.4(AUTS2):c.901C>T (p.Gln301Ter)	SNV Germline	Chr7:70763028	Pathogenic	Autism spectrum disorder due to AUTS2 deficiency	Criteria Provided Single Submitter		rs_1585645641	1 SubmittersRCV000824999
NM_173569.4(UBN2):c.2024+1G>A	SNV Germline	Chr7:139276148	Likely pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter		rs_1585016242	1 SubmittersRCV000850615
NM_004667.6(HERC2):c.8329A>G (p.Met2777Val)	SNV Germline	Chr15:28192083	Conflicting classifications of pathogenicity	Condition: not provided Developmental delay with autism spectrum disorder and gait instability	Criteria Provided Conflicting Classifications		rs_184647895	4 SubmittersRCV000964341 RCV001331289
NM_005909.5(MAP1B):c.3094G>T (p.Glu1032Ter)	SNV Germline	Chr5:72196449	Pathogenic; risk factor	Cognitive impairment White matter deficit Autism spectrum disorder Hypoplasia of the corpus callosum Periventricular nodular heterotopia Periventricular nodular heterotopia 9	No Assertion Criteria Provided		rs_1561315170	2 SubmittersRCV000984867 RCV001195717
NM_005909.5(MAP1B):c.4990C>T (p.Arg1664Ter)	SNV Germline	Chr5:72198345	Pathogenic/Likely pathogenic	White matter deficit Cognitive impairment Periventricular nodular heterotopia Autism spectrum disorder Hypoplasia of the corpus callosum Neurodevelopmental disorder Periventricular nodular heterotopia 9 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1580026238	4 SubmittersRCV000984868 RCV001262715 RCV001195719 RCV003326506
NM_004667.6(HERC2):c.4126C>T (p.Arg1376Ter)	SNV Unknown	Chr15:28234162	Likely pathogenic	Developmental delay with autism spectrum disorder and gait instability	Criteria Provided Single Submitter		rs_575492335	1 SubmittersRCV000989279
NM_004667.6(HERC2):c.1442C>T (p.Thr481Met)	SNV Germline	Chr15:28269252	Conflicting classifications of pathogenicity	Developmental delay with autism spectrum disorder and gait instability Condition: not provided	Criteria Provided Conflicting Classifications		rs_200457382	2 SubmittersRCV000989280 RCV003392718
NM_001282531.3(ADNP):c.-5-1G>C	SNV Unknown	Chr20:50904002	Pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	Criteria Provided Single Submitter		rs_1064796656	1 SubmittersRCV000990317
NM_015570.4(AUTS2):c.1604A>C (p.His535Pro)	SNV Germline	Chr7:70766249	Likely pathogenic	Autism spectrum disorder due to AUTS2 deficiency	Criteria Provided Single Submitter		rs_1585653240	1 SubmittersRCV000995503
NM_003073.5(SMARCB1):c.568C>T (p.Arg190Trp)	SNV Germline	Chr22:23803362	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Schwannomatosis 1 Autism spectrum disorder	Criteria Provided Conflicting Classifications		rs_1601405064	4 SubmittersRCV001024411 RCV001365280 RCV001195823 RCV003127587
NM_015570.4(AUTS2):c.784C>T (p.Gln262Ter)	SNV Germline	Chr7:70762911	Likely pathogenic	Autism spectrum disorder due to AUTS2 deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_1585645384	2 SubmittersRCV001027682
NM_012243.3(SLC35A3):c.751C>T (p.Gln251Ter)	SNV Germline	Chr1:100015418	Pathogenic	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	Criteria Provided Single Submitter		rs_1660027548	1 SubmittersRCV001070679
NM_021008.4(DEAF1):c.671G>A (p.Arg224Gln)	SNV Germline	Chr11:686991	Conflicting classifications of pathogenicity	Intellectual disability-epilepsy-extrapyramidal syndrome Autism spectrum disorder Condition: not provided DEAF1-related disorder	Criteria Provided Conflicting Classifications		rs_1415420832	4 SubmittersRCV001171489 RCV003127670 RCV003718379 RCV004528401
NM_012243.3(SLC35A3):c.724C>T (p.Arg242Ter)	SNV Germline	Chr1:100015391	Pathogenic	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	Criteria Provided Single Submitter		rs_1660025629	1 SubmittersRCV001232543
NM_001282531.3(ADNP):c.2150G>A (p.Arg717His)	SNV Germline	Chr20:50892564	Conflicting classifications of pathogenicity	Condition: not provided ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	Criteria Provided Conflicting Classifications		rs_756595568	2 SubmittersRCV001231654 RCV003142195
NM_001353921.2(ARHGEF9):c.889C>T (p.Arg297Cys)	SNV Germline	ChrX:63674094	Conflicting classifications of pathogenicity	Autism spectrum disorder Developmental and epileptic encephalopathy, 8 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_2050115619	3 SubmittersRCV001249523 RCV001879754 RCV002447235
NM_001282531.3(ADNP):c.280C>T (p.Arg94Cys)	SNV Germline	Chr20:50894434	Pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	No Assertion Criteria Provided		rs_1186714720	1 SubmittersRCV001251875
NM_173495.3(PTCHD1):c.898G>C (p.Gly300Arg)	SNV Unknown	ChrX:23380137	Likely pathogenic	Autism spectrum disorder	No Assertion Criteria Provided		rs_1922524280	1 SubmittersRCV001252599
NM_002834.5(PTPN11):c.317A>G (p.Asp106Gly)	SNV Germline	Chr12:112450497	Likely pathogenic	Autism spectrum disorder Noonan syndrome	Criteria Provided Single Submitter			2 SubmittersRCV001257614 RCV001261101
NM_018718.3(CEP41):c.602C>G (p.Ser201Cys)	SNV Germline	Chr7:130401921	Likely pathogenic	Familial Autism Spectrum Disorder	No Assertion Criteria Provided		rs_146662384	1 SubmittersRCV001261712
NM_001282531.3(ADNP):c.2938C>T (p.Gln980Ter)	SNV Unknown	Chr20:50891776	Likely pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	Criteria Provided Single Submitter		rs_1980763449	1 SubmittersRCV001262325
NM_001282531.3(ADNP):c.2213C>A (p.Ser738Ter)	SNV Germline	Chr20:50892501	Pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder Condition: not provided	Criteria Provided Single Submitter		rs_779340209	2 SubmittersRCV001265353 RCV001664791
NM_001282531.3(ADNP):c.1033C>T (p.Gln345Ter)	SNV Germline	Chr20:50893681	Pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	No Assertion Criteria Provided		rs_1981068436	1 SubmittersRCV001265357
NM_001282531.3(ADNP):c.484C>T (p.Gln162Ter)	SNV Germline	Chr20:50894230	Pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	No Assertion Criteria Provided		rs_1981147033	1 SubmittersRCV001265358
NM_015100.4(POGZ):c.3048G>T (p.Glu1016Asp)	SNV Germline	Chr1:151405987	Likely pathogenic	Autism spectrum disorder	No Assertion Criteria Provided		rs_1653514334	1 SubmittersRCV001291384
NM_001042681.2(RERE):c.2278C>T (p.Gln760Ter)	SNV Germline	Chr1:8361229	Likely pathogenic	Autism spectrum disorder	No Assertion Criteria Provided		rs_1641565884	1 SubmittersRCV001291371
NM_001172509.2(SATB2):c.1861A>T (p.Ile621Phe)	SNV Germline	Chr2:199272552	Likely pathogenic	Autism spectrum disorder	No Assertion Criteria Provided		rs_1692190479	1 SubmittersRCV001291383
NM_014991.6(WDFY3):c.2932A>T (p.Arg978Ter)	SNV Germline	Chr4:84797999	Likely pathogenic	Autism spectrum disorder	No Assertion Criteria Provided		rs_1749810683	1 SubmittersRCV001291370
NM_001374828.1(ARID1B):c.2746C>T (p.Gln916Ter)	SNV Germline	Chr6:157133192	Likely pathogenic	Autism spectrum disorder	No Assertion Criteria Provided		rs_1554301257	1 SubmittersRCV001291272
NM_006766.5(KAT6A):c.1582C>T (p.Pro528Ser)	SNV Germline	Chr8:41955312	Likely pathogenic	Autism spectrum disorder	No Assertion Criteria Provided		rs_1822869930	1 SubmittersRCV001291382
NM_001032221.6(STXBP1):c.560C>T (p.Pro187Leu)	SNV Germline	Chr9:127663335	Pathogenic/Likely pathogenic	Autism spectrum disorder Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 4 Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1841141204	7 SubmittersRCV001291380 RCV001863164 RCV002051934 RCV002350505 RCV003329397
NM_015338.6(ASXL1):c.1045C>T (p.Gln349Ter)	SNV Germline	Chr20:32432945	Likely pathogenic	Autism spectrum disorder	No Assertion Criteria Provided		rs_2011568558	1 SubmittersRCV001291374
NM_000548.5(TSC2):c.183A>G (p.Ile61Met)	SNV Germline	Chr16:2050444	Conflicting classifications of pathogenicity	Tuberous sclerosis 2 Autism spectrum disorder Isolated focal cortical dysplasia type II	Criteria Provided Conflicting Classifications		rs_2084961841	3 SubmittersRCV001304127 RCV003127778 RCV003462870
NM_015570.4(AUTS2):c.2T>C (p.Met1Thr)	SNV Germline	Chr7:69599655	Pathogenic	Autism spectrum disorder due to AUTS2 deficiency	Criteria Provided Single Submitter		rs_1792258600	1 SubmittersRCV001336298
NM_022552.5(DNMT3A):c.1004A>G (p.Lys335Arg)	SNV Germline	Chr2:25247601	Pathogenic/Likely pathogenic	Neonatal hypotonia Autism spectrum disorder Tatton-Brown-Rahman overgrowth syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_2149307214	3 SubmittersRCV001376132 RCV001871979 RCV002285481
NM_012243.3(SLC35A3):c.211C>T (p.Arg71Ter)	SNV Germline	Chr1:99999284	Pathogenic	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	Criteria Provided Single Submitter		rs_778502240	1 SubmittersRCV001384087
NM_015570.4(AUTS2):c.1611C>A (p.His537Gln)	SNV Germline	Chr7:70766256	Likely pathogenic	Autism spectrum disorder due to AUTS2 deficiency	No Assertion Criteria Provided		rs_1383001370	1 SubmittersRCV001788502
NM_015570.4(AUTS2):c.1A>T (p.Met1Leu)	SNV Germline	Chr7:69599654	Pathogenic	Autism spectrum disorder due to AUTS2 deficiency	Criteria Provided Single Submitter		rs_2129067294	1 SubmittersRCV001528177
NM_001330078.2(NRXN1):c.3430C>T (p.Arg1144Ter)	SNV Germline	Chr2:50236905	Pathogenic/Likely pathogenic	Condition: not provided Autism spectrum disorder Pitt-Hopkins-like syndrome 2	Criteria Provided Multiple Submitters No Conflicts		rs_1282230077	3 SubmittersRCV001546634 RCV003322895 RCV003619744
NM_001282531.3(ADNP):c.2561C>T (p.Ser854Phe)	SNV Germline	Chr20:50892153	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	Criteria Provided Conflicting Classifications		rs_376827094	4 SubmittersRCV001566175 RCV002458532 RCV003136107
NM_003590.5(CUL3):c.1636C>T (p.Arg546Ter)	SNV Germline	Chr2:224497824	Conflicting classifications of pathogenicity	Condition: not provided Neurodevelopmental disorder with or without autism or seizures Autism spectrum disorder	Criteria Provided Conflicting Classifications		rs_767240461	4 SubmittersRCV001593457 RCV002290728 RCV003127994
NM_001282531.3(ADNP):c.3095C>G (p.Ser1032Cys)	SNV Germline	Chr20:50891619	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	Criteria Provided Conflicting Classifications		rs_559915015	4 SubmittersRCV001708709 RCV002538652 RCV003136126
NM_001282531.3(ADNP):c.2189G>A (p.Arg730Gln)	SNV Germline	Chr20:50892525	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder ADNP-related disorder	Criteria Provided Conflicting Classifications		rs_377051194	5 SubmittersRCV001732533 RCV002543902 RCV003136128 RCV003941114
NM_015570.4(AUTS2):c.1018C>T (p.Gln340Ter)	SNV Germline	Chr7:70763145	Pathogenic/Likely pathogenic	Condition: not provided Autism spectrum disorder due to AUTS2 deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_2129556993	2 SubmittersRCV003238008 RCV003336430
NM_015570.4(AUTS2):c.478C>T (p.Gln160Ter)	SNV Germline	Chr7:69899454	Likely pathogenic	Autism spectrum disorder due to AUTS2 deficiency	Criteria Provided Single Submitter		rs_2129540473	1 SubmittersRCV001784118
NM_001282531.3(ADNP):c.2454C>G (p.Tyr818Ter)	SNV Germline	Chr20:50892260	Pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	Criteria Provided Multiple Submitters No Conflicts		rs_2122743080	2 SubmittersRCV001814826
NM_001282531.3(ADNP):c.2387G>A (p.Trp796Ter)	SNV Germline	Chr20:50892327	Pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	Criteria Provided Single Submitter		rs_2122743549	1 SubmittersRCV001823314
NM_012309.5(SHANK2):c.1924C>T (p.Arg642Ter)	SNV Germline	Chr11:70661608	Pathogenic	Autism spectrum disorder Rare disease with autism	Criteria Provided Single Submitter		rs_2134275196	2 SubmittersRCV001825309 RCV002287509
NM_004667.6(HERC2):c.1168C>T (p.Arg390Ter)	SNV Germline	Chr15:28270784	Pathogenic	Developmental delay with autism spectrum disorder and gait instability	Criteria Provided Single Submitter		rs_756221917	1 SubmittersRCV001839180
NM_016188.5(ACTL6B):c.1177G>A (p.Gly393Arg)	SNV Germline	Chr7:100646272	Pathogenic	Autism spectrum disorder	No Assertion Criteria Provided		rs_986702153	1 SubmittersRCV001849716
NM_016188.5(ACTL6B):c.460C>T (p.Leu154Phe)	SNV Germline	Chr7:100650045	Pathogenic	Autism spectrum disorder	No Assertion Criteria Provided		rs_2131335751	1 SubmittersRCV001849717
NM_016188.5(ACTL6B):c.892C>T (p.Arg298Ter)	SNV Germline	Chr7:100647015	Pathogenic	Autism spectrum disorder	No Assertion Criteria Provided		rs_2131333638	1 SubmittersRCV001849718
NM_016188.5(ACTL6B):c.523A>C (p.Thr175Pro)	SNV Germline	Chr7:100648768	Pathogenic	Autism spectrum disorder	No Assertion Criteria Provided		rs_2131334872	1 SubmittersRCV001849719
NM_016188.5(ACTL6B):c.1249G>T (p.Gly417Trp)	SNV Germline	Chr7:100643278	Pathogenic	Autism spectrum disorder	No Assertion Criteria Provided		rs_746964903	1 SubmittersRCV001849721
NM_001376.5(DYNC1H1):c.12419G>A (p.Arg4140His)	SNV Germline	Chr14:102042654	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease axonal type 2O Intellectual disability, autosomal dominant 13 Autism spectrum disorder	Criteria Provided Conflicting Classifications		rs_770451110	3 SubmittersRCV001957279 RCV002466275 RCV003126001
NM_012243.3(SLC35A3):c.595G>T (p.Glu199Ter)	SNV Germline	Chr1:100011494	Pathogenic	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	Criteria Provided Single Submitter		rs_2101370069	1 SubmittersRCV001939461
NM_006662.3(SRCAP):c.143C>T (p.Pro48Leu)	SNV Germline	Chr16:30704152	Conflicting classifications of pathogenicity	Condition: not provided Autism spectrum disorder	Criteria Provided Conflicting Classifications		rs_1170509653	2 SubmittersRCV001889798 RCV003125947
NM_012243.3(SLC35A3):c.21C>G (p.Tyr7Ter)	SNV Germline	Chr1:99993575	Pathogenic/Likely pathogenic	Autism spectrum disorder - epilepsy - arthrogryposis syndrome Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts		rs_775151826	2 SubmittersRCV001960201 RCV002561472
NM_001271.4(CHD2):c.5134C>T (p.His1712Tyr)	SNV Germline	Chr15:93020239	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy 94 Autism spectrum disorder	Criteria Provided Conflicting Classifications		rs_1006465697	2 SubmittersRCV001946251 RCV003126010
NM_012243.3(SLC35A3):c.842C>A (p.Ser281Ter)	SNV Germline	Chr1:100017770	Pathogenic	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	Criteria Provided Single Submitter		rs_1660258358	1 SubmittersRCV001914135
NM_022552.5(DNMT3A):c.1978T>C (p.Tyr660His)	SNV Germline	Chr2:25241666	Likely pathogenic	Tatton-Brown-Rahman overgrowth syndrome Autism spectrum disorder Condition: not provided	Criteria Provided Single Submitter		rs_1674056899	2 SubmittersRCV002226414 RCV003238890
NM_001282531.3(ADNP):c.662T>G (p.Ile221Ser)	SNV Germline	Chr20:50894052	Conflicting classifications of pathogenicity	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder Condition: not provided	Criteria Provided Conflicting Classifications		rs_747105829	2 SubmittersRCV002227699 RCV003101299
NM_012243.3(SLC35A3):c.74G>T (p.Arg25Leu)	SNV Germline	Chr1:99993628	Pathogenic	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	No Assertion Criteria Provided		rs_903783945	1 SubmittersRCV002248442
NM_012243.3(SLC35A3):c.-18-1G>T	SNV Germline	Chr1:99993536	Pathogenic	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	No Assertion Criteria Provided		rs_2101132521	1 SubmittersRCV002248445
NM_001282531.3(ADNP):c.2278G>T (p.Glu760Ter)	SNV Germline	Chr20:50892436	Likely pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	Criteria Provided Single Submitter		rs_1221864735	1 SubmittersRCV002251122
NM_015570.4(AUTS2):c.3008C>T (p.Ser1003Leu)	SNV Germline	Chr7:70790224	Conflicting classifications of pathogenicity	Autism spectrum disorder due to AUTS2 deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_543645962	2 SubmittersRCV002266797 RCV003164390
NM_004667.6(HERC2):c.13279C>T (p.Arg4427Ter)	SNV Germline	Chr15:28117148	Likely pathogenic	Developmental delay with autism spectrum disorder and gait instability	Criteria Provided Single Submitter		rs_1224448657	1 SubmittersRCV002266820
NM_001040142.2(SCN2A):c.1157G>A (p.Trp386Ter)	SNV Germline	Chr2:165313742	Pathogenic	unclassified developmental and epileptic encephalopathy Autism spectrum disorder	No Assertion Criteria Provided			1 SubmittersRCV003155987
NM_001282531.3(ADNP):c.2292T>G (p.Tyr764Ter)	SNV Germline	Chr20:50892422	Pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	Criteria Provided Single Submitter			1 SubmittersRCV002289213
NM_000264.5(PTCH1):c.2266C>T (p.Leu756Phe)	SNV Germline	Chr9:95467410	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Gorlin syndrome Autism spectrum disorder	Criteria Provided Conflicting Classifications			4 SubmittersRCV002443814 RCV003151408 RCV003098764 RCV003126251
NM_001282531.3(ADNP):c.1108C>G (p.Leu370Val)	SNV Germline	Chr20:50893606	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	Criteria Provided Conflicting Classifications			3 SubmittersRCV002428659 RCV003102065 RCV003492768
NM_001289080.2(CNTN6):c.1492+1G>T	SNV Unknown	Chr3:1352452	Likely pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter			1 SubmittersRCV002465064
NM_015570.4(AUTS2):c.1531G>A (p.Gly511Arg)	SNV Germline	Chr7:70766176	Conflicting classifications of pathogenicity	Autism spectrum disorder due to AUTS2 deficiency Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV002467479 RCV003222432
NM_015570.4(AUTS2):c.2609G>A (p.Arg870His)	SNV Germline	Chr7:70789825	Conflicting classifications of pathogenicity	Autism spectrum disorder due to AUTS2 deficiency Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV002471323 RCV002573603
NM_001282531.3(ADNP):c.2000G>T (p.Cys667Phe)	SNV Germline	Chr20:50892714	Likely pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	Criteria Provided Single Submitter			1 SubmittersRCV002471821
NM_015570.4(AUTS2):c.1135C>T (p.Gln379Ter)	SNV Germline	Chr7:70763262	Pathogenic	Autism spectrum disorder due to AUTS2 deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002472101
NM_000834.5(GRIN2B):c.1844A>G (p.Asn615Ser)	SNV Germline	Chr12:13608769	Pathogenic	GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder	Criteria Provided Single Submitter			1 SubmittersRCV002472265
NM_006766.5(KAT6A):c.3661G>A (p.Glu1221Lys)	SNV Germline	Chr8:41934559	Conflicting classifications of pathogenicity	Condition: not provided Autism spectrum disorder	Criteria Provided Conflicting Classifications			3 SubmittersRCV002612845 RCV003314041
NM_015570.4(AUTS2):c.3299C>A (p.Pro1100Gln)	SNV Germline	Chr7:70790515	Conflicting classifications of pathogenicity	Condition: not provided Autism spectrum disorder due to AUTS2 deficiency	Criteria Provided Conflicting Classifications			2 SubmittersRCV002636342 RCV003492773
NM_012243.3(SLC35A3):c.615G>A (p.Trp205Ter)	SNV Germline	Chr1:100011514	Pathogenic	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002900428
NM_004958.4(MTOR):c.1111G>T (p.Asp371Tyr)	SNV Germline	Chr1:11247824	Conflicting classifications of pathogenicity	Condition: not provided Autism spectrum disorder	Criteria Provided Conflicting Classifications			2 SubmittersRCV002996289 RCV003126262
NM_012243.3(SLC35A3):c.735G>A (p.Trp245Ter)	SNV Germline	Chr1:100015402	Pathogenic	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002988546
NM_015570.4(AUTS2):c.421A>G (p.Arg141Gly)	SNV Germline	Chr7:69899397	Conflicting classifications of pathogenicity	Condition: not provided Autism spectrum disorder due to AUTS2 deficiency	Criteria Provided Conflicting Classifications			2 SubmittersRCV003011234 RCV003333229
NM_012243.3(SLC35A3):c.340C>T (p.Gln114Ter)	SNV Germline	Chr1:99999413	Pathogenic	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003017355
NM_170606.3(KMT2C):c.13040C>T (p.Pro4347Leu)	SNV Germline	Chr7:152148887	Conflicting classifications of pathogenicity	Autism spectrum disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV003126281 RCV002931063
NM_015570.4(AUTS2):c.2005-1G>C	SNV Germline	Chr7:70781614	Likely pathogenic	Autism spectrum disorder due to AUTS2 deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003123341
NM_001271.4(CHD2):c.3427T>G (p.Tyr1143Asp)	SNV Germline	Chr15:92991489	Likely pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter			1 SubmittersRCV003127236
NM_001320.7(CSNK2B):c.72+1G>T	SNV Germline	Chr6:31666904	Likely pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter			1 SubmittersRCV003127240
NM_002397.5(MEF2C):c.301C>A (p.Pro101Thr)	SNV Germline	Chr5:88761286	Likely pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter			1 SubmittersRCV003127257
NM_001376.5(DYNC1H1):c.12653C>T (p.Thr4218Met)	SNV Germline	Chr14:102044014	Conflicting classifications of pathogenicity	Autism spectrum disorder Charcot-Marie-Tooth disease axonal type 2O	Criteria Provided Conflicting Classifications			2 SubmittersRCV003127280 RCV003643039
NM_001376.5(DYNC1H1):c.4396-1G>C	SNV Germline	Chr14:102001534	Likely pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter			1 SubmittersRCV003127281
NM_001161352.2(KCNMA1):c.1845C>G (p.Phe615Leu)	SNV Germline	Chr10:77039542	Likely pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter			1 SubmittersRCV003127290
NM_003797.5(EED):c.767T>C (p.Met256Thr)	SNV Germline	Chr11:86266123	Likely pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter			1 SubmittersRCV003127305
NM_001110792.2(MECP2):c.881A>G (p.Glu294Gly)	SNV Germline	ChrX:154030983	Likely pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter			1 SubmittersRCV003127312
NM_005215.4(DCC):c.617A>T (p.Asp206Val)	SNV Germline	Chr18:52906248	Likely pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter			1 SubmittersRCV003127317
NM_001378418.1(TCF20):c.2803C>T (p.Gln935Ter)	SNV Germline	Chr22:42212503	Pathogenic	Autism spectrum disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003127328 RCV003565619
NM_005654.6(NR2F1):c.1184G>C (p.Gly395Ala)	SNV Germline	Chr5:93593754	Likely pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter			1 SubmittersRCV003127332
NM_006618.5(KDM5B):c.4189C>T (p.Arg1397Ter)	SNV Germline	Chr1:202730015	Conflicting classifications of pathogenicity	Autism spectrum disorder Intellectual disability, autosomal recessive 65	Criteria Provided Conflicting Classifications			2 SubmittersRCV003127343 RCV003135286
NM_006766.5(KAT6A):c.4674C>A (p.Ser1558Arg)	SNV Germline	Chr8:41933546	Likely pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter			1 SubmittersRCV003127346
NM_014159.7(SETD2):c.5122C>T (p.Arg1708Ter)	SNV Germline	Chr3:47097975	Likely pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter			1 SubmittersRCV003127362
NM_014704.4(CEP104):c.1241T>A (p.Leu414Ter)	SNV Germline	Chr1:3836571	Likely pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter			1 SubmittersRCV003127370
NM_014727.3(KMT2B):c.428C>T (p.Ser143Phe)	SNV Germline	Chr19:35719533	Conflicting classifications of pathogenicity	Autism spectrum disorder Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV003127374 RCV003699028
NM_015001.3(SPEN):c.7232C>A (p.Ser2411Ter)	SNV Germline	Chr1:15933472	Likely pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter			1 SubmittersRCV003127378
NM_015151.4(DIP2A):c.1429+2T>G	SNV Germline	Chr21:46533649	Likely pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter			1 SubmittersRCV003127387
NM_015570.4(AUTS2):c.940C>T (p.Gln314Ter)	SNV Germline	Chr7:70763067	Pathogenic/Likely pathogenic	Autism spectrum disorder due to AUTS2 deficiency AUTS2-related disorder	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003127401 RCV003395701
NM_016604.4(KDM3B):c.3047-1G>A	SNV Germline	Chr5:138399859	Likely pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter			1 SubmittersRCV003127406
NM_018263.6(ASXL2):c.2326A>C (p.Thr776Pro)	SNV Germline	Chr2:25744011	Likely pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter			1 SubmittersRCV003127412
NM_001005273.3(CHD3):c.107A>T (p.Asp36Val)	SNV Germline	Chr17:7889670	Conflicting classifications of pathogenicity	Autism spectrum disorder CHD3-related disorder	Criteria Provided Conflicting Classifications			2 SubmittersRCV003127414 RCV003410264
NM_001375380.1(EBF3):c.232C>T (p.Gln78Ter)	SNV Germline	Chr10:129963426	Pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter			1 SubmittersRCV003127425
NM_022552.5(DNMT3A):c.745C>T (p.Gln249Ter)	SNV Germline	Chr2:25248147	Likely pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter			1 SubmittersRCV003127441
NM_001375765.1(GIGYF1):c.3106T>G (p.Ter1036Gly)	SNV Germline	Chr7:100681721	Pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter			1 SubmittersRCV003127444
NM_030632.3(ASXL3):c.3737C>A (p.Ser1246Ter)	SNV Germline	Chr18:33743585	Pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter			1 SubmittersRCV003127456
NM_052867.4(NALCN):c.19A>T (p.Ser7Cys)	SNV Germline	Chr13:101399108	Conflicting classifications of pathogenicity	Autism spectrum disorder Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV003127466 RCV003778680
NM_001129.5(AEBP1):c.2604C>A (p.Cys868Ter)	SNV Germline	Chr7:44113025	Likely pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter			1 SubmittersRCV003128038
NM_001148.6(ANK2):c.9184G>T (p.Glu3062Ter)	SNV Germline	Chr4:113357802	Pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter			1 SubmittersRCV003128046
NM_001162501.2(TNRC6B):c.2641C>T (p.Gln881Ter)	SNV Germline	Chr22:40266871	Pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter			1 SubmittersRCV003128048
NM_014989.7(RIMS1):c.1679-20550G>A	SNV Germline	Chr6:72213223	Likely pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter			1 SubmittersRCV003128056
NM_001170629.2(CHD8):c.3511C>T (p.Gln1171Ter)	SNV Germline	Chr14:21403460	Pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter			1 SubmittersRCV003128059
NM_001197104.2(KMT2A):c.10835+1G>A	SNV Germline	Chr11:118507610	Likely pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter			1 SubmittersRCV003128060
NM_015100.4(POGZ):c.1418A>G (p.Tyr473Cys)	SNV Germline	Chr1:151424054	Likely pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter			1 SubmittersRCV003128066
NM_015570.4(AUTS2):c.454C>T (p.Arg152Ter)	SNV Unknown	Chr7:69899430	Likely pathogenic	Autism spectrum disorder due to AUTS2 deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003153054
NM_015570.4(AUTS2):c.2224+1G>T	SNV Germline	Chr7:70785020	Likely pathogenic	Autism spectrum disorder due to AUTS2 deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003223549
NM_015570.4(AUTS2):c.1557C>A (p.Tyr519Ter)	SNV Unknown	Chr7:70766202	Likely pathogenic	Autism spectrum disorder due to AUTS2 deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003326212
NM_012243.3(SLC35A3):c.811G>T (p.Gly271Ter)	SNV Germline	Chr1:100017739	Pathogenic	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003745706
NM_012243.3(SLC35A3):c.635-2A>T	SNV Germline	Chr1:100015300	Likely pathogenic	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003745844
NM_012243.3(SLC35A3):c.188-1G>T	SNV Germline	Chr1:99999260	Likely pathogenic	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003745977
NM_015570.4(AUTS2):c.2411C>T (p.Pro804Leu)	SNV Germline	Chr7:70787311	Conflicting classifications of pathogenicity	Condition: not provided Autism spectrum disorder due to AUTS2 deficiency	Criteria Provided Conflicting Classifications			2 SubmittersRCV003732368 RCV004527463
NM_012243.3(SLC35A3):c.423G>A (p.Trp141Ter)	SNV Germline	Chr1:100007114	Pathogenic	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003847930
NM_015570.4(AUTS2):c.1902+1G>A	SNV Germline	Chr7:70774100	Pathogenic	Autism spectrum disorder due to AUTS2 deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003883293
NM_001282531.3(ADNP):c.2468T>G (p.Leu823Trp)	SNV Germline	Chr20:50892246	Likely pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	Criteria Provided Single Submitter			1 SubmittersRCV003991505

NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln)

SNV
Germline/somatic

Chr2:31529325

Pathogenic/Likely pathogenic

Micropenis
Condition: not provided
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
Autism spectrum disorder
SRD5A2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA116158

rs_9332964

14 SubmittersRCV000003515 RCV000083663 RCV000288398 RCV003313913 RCV003944795

NM_000901.5(NR3C2):c.1609C>T (p.Arg537Ter)

SNV
Germline

Chr4:148435252

Pathogenic

Autosomal dominant pseudohypoaldosteronism type 1
Autism spectrum disorder

Criteria Provided
Single Submitter

CA119730

rs_121912562

2 SubmittersRCV000009086 RCV000754683

NM_001170629.2(CHD8):c.3519-2A>G

SNV
Germline

Chr14:21403214

Pathogenic

Intellectual developmental disorder with autism and macrocephaly
Condition: not provided
Autism spectrum disorder

Criteria Provided
Single Submitter

rs_1594344233

3 SubmittersRCV000032828 RCV001555708 RCV001291274

NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn)

SNV
Germline/somatic

Chr15:66435145

Pathogenic

RASopathy
Condition: not provided
Cardio-facio-cutaneous syndrome
Cardiofaciocutaneous syndrome 3
Melanoma
Non-small cell lung carcinoma
Autism spectrum disorder
Noonan syndrome
Cardio-facio-cutaneous syndrome
MAP2K1-related RASopathy
Cardiovascular phenotype
Melorheostosis
Cardiofaciocutaneous syndrome 3

Reviewed By Expert Panel

CA180743

rs_727504317

16 SubmittersRCV000158004 RCV000212506 RCV000208771 RCV000192193 RCV000423708 RCV000439184 RCV000754677 RCV000844673 RCV001095724 RCV002415455 RCV003224114

NM_000368.5(TSC1):c.346T>G (p.Leu116Val)

SNV
Germline

Chr9:132925604

Conflicting classifications of pathogenicity

Autism spectrum disorder
Tuberous sclerosis syndrome
not specified
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Condition: not provided
Tuberous sclerosis 1
TSC1-related disorder

Criteria Provided
Conflicting Classifications

CA007386

rs_199620268

16 SubmittersRCV000055027 RCV000055005 RCV000122184 RCV000163292 RCV000372436 RCV000725839 RCV001080106 RCV003934997

NM_000548.5(TSC2):c.2632C>T (p.Pro878Ser)

SNV
Germline

Chr16:2075885

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Autism spectrum disorder
not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA017740

rs_397515077

8 SubmittersRCV000055315 RCV000055380 RCV000189909 RCV000562671 RCV000644061

NM_000548.5(TSC2):c.190A>G (p.Ile64Val)

SNV
Germline

Chr16:2050451

Conflicting classifications of pathogenicity

Autism spectrum disorder
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA016191

rs_397515081

7 SubmittersRCV000055320 RCV000644085 RCV001118864 RCV002408557 RCV003466927

NM_000548.5(TSC2):c.5072T>C (p.Met1691Thr)

SNV
Germline

Chr16:2088051

Conflicting classifications of pathogenicity

Autism spectrum disorder
Tuberous sclerosis 2
Tuberous sclerosis syndrome
TSC2-related disorder
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA021670

rs_397515110

5 SubmittersRCV000055361 RCV000644174 RCV003996478 RCV004537241 RCV002336202

NM_000548.5(TSC2):c.5155G>A (p.Ala1719Thr)

SNV
Germline

Chr16:2088134

Conflicting classifications of pathogenicity

Autism spectrum disorder
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA021901

rs_201206500

6 SubmittersRCV000055435 RCV000468508 RCV000572428 RCV003162430 RCV003996480

NM_000548.5(TSC2):c.3989C>T (p.Thr1330Met)

SNV
Germline

Chr16:2083800

Conflicting classifications of pathogenicity

Autism spectrum disorder
Tuberous sclerosis syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA019782

rs_397515209

9 SubmittersRCV000055507 RCV000055604 RCV000190025 RCV000571810 RCV001703964 RCV000458400 RCV004542721

NM_000548.5(TSC2):c.454C>G (p.His152Asp)

SNV
Germline

Chr16:2054413

Conflicting classifications of pathogenicity

Autism spectrum disorder
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA020642

rs_397515285

7 SubmittersRCV000055607 RCV000465969 RCV000575914 RCV001557660 RCV003996482

NM_004667.6(HERC2):c.1781C>T (p.Pro594Leu)

SNV
Germline

Chr15:28265707

Pathogenic

Developmental delay with autism spectrum disorder and gait instability

No Assertion Criteria Provided

CA145326

rs_397518474

1 SubmittersRCV000074397

NM_012243.3(SLC35A3):c.514C>T (p.Gln172Ter)

SNV
Germline

Chr1:100011413

Pathogenic

Autism spectrum disorder - epilepsy - arthrogryposis syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA145445

rs_398122524

3 SubmittersRCV000074503

NM_012243.3(SLC35A3):c.886A>G (p.Ser296Gly)

SNV
Germline

Chr1:100017814

Pathogenic

Autism spectrum disorder - epilepsy - arthrogryposis syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA145448

rs_141952252

6 SubmittersRCV000074504 RCV001588895

NM_000540.3(RYR1):c.742G>C (p.Gly248Arg)

SNV
Germline

Chr19:38446710

Pathogenic

Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Autism spectrum disorder due to AUTS2 deficiency

Reviewed By Expert Panel

CA024799

rs_1801086

8 SubmittersRCV000119714 RCV000704587 RCV002281946 RCV003330082

NM_001282531.3(ADNP):c.1211C>A (p.Ser404Ter)

SNV
Germline

Chr20:50893503

Pathogenic

ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder

No Assertion Criteria Provided

CA163343

rs_587777524

1 SubmittersRCV000128576

NM_001282531.3(ADNP):c.2157C>G (p.Tyr719Ter)

SNV
Germline

Chr20:50892557

Pathogenic

ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA163346

rs_587777526

12 SubmittersRCV000128578 RCV000190684 RCV000483727

NM_001083962.2(TCF4):c.469C>T (p.Arg157Ter)

SNV
Germline

Chr18:55350904

Pathogenic

Pitt-Hopkins syndrome
Condition: not provided
Autism spectrum disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA272709

rs_587784464

4 SubmittersRCV000147723 RCV000484787 RCV003313939

NM_000719.7(CACNA1C):c.2684G>A (p.Arg895His)

SNV
Germline

Chr12:2595894

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Autism spectrum disorder

Criteria Provided
Conflicting Classifications

CA301420

rs_786205755

3 SubmittersRCV000170794 RCV000465144 RCV003126565

NM_001374828.1(ARID1B):c.2902C>T (p.Arg968Ter)

SNV
Germline

Chr6:157148764

Pathogenic

Condition: not provided
Coffin-Siris syndrome 1
ARID1B-related BAFopathy
Autism spectrum disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA203785

rs_794727977

7 SubmittersRCV000358610 RCV001330749 RCV001533110 RCV001291271

NM_002397.5(MEF2C):c.766C>T (p.Arg256Ter)

SNV
Germline

Chr5:88731773

Pathogenic

Autism spectrum disorder
Intellectual disability
5q14.3 microdeletion syndrome
Intellectual disability, autosomal dominant 20

Criteria Provided
Multiple Submitters
No Conflicts

rs_796052733

4 SubmittersRCV000754665 RCV001257689 RCV001813767 RCV001852474

NM_002397.5(MEF2C):c.43C>T (p.Arg15Cys)

SNV
Germline

Chr5:88823746

Pathogenic/Likely pathogenic

Condition: not provided
Autism spectrum disorder
Intellectual disability, autosomal dominant 20

Criteria Provided
Multiple Submitters
No Conflicts

CA315916

rs_796052728

3 SubmittersRCV000188145 RCV001291376 RCV002514022

NM_000548.5(TSC2):c.1081C>G (p.Leu361Val)

SNV
Germline

Chr16:2060775

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Autism spectrum disorder
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA319427

rs_796053483

8 SubmittersRCV000189974 RCV000812345 RCV000754678 RCV002257481 RCV003996880 RCV003462292

NM_004667.6(HERC2):c.2747-3C>A

SNV
Germline

Chr15:28255999

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Developmental delay with autism spectrum disorder and gait instability

Criteria Provided
Conflicting Classifications

CA249420

rs_200632307

5 SubmittersRCV000203211 RCV000727185 RCV003147405

NM_024757.5(EHMT1):c.3413G>A (p.Trp1138Ter)

SNV
Germline

Chr9:137817477

Pathogenic

Autism spectrum disorder
Kleefstra syndrome 1

Criteria Provided
Single Submitter

CA10575851

rs_886037776

1 SubmittersRCV000241547

NM_018718.3(CEP41):c.320C>G (p.Ala107Gly)

SNV
Germline

Chr7:130404666

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 15
Familial Autism Spectrum Disorder

Criteria Provided
Conflicting Classifications

CA4485603

rs_141025803

4 SubmittersRCV000224397 RCV000265231 RCV001261713

NM_017947.4(MOCOS):c.2326C>T (p.Arg776Cys)

SNV
Germline

Chr18:36260092

Likely pathogenic

Xanthinuria type II
Autism spectrum disorder

Criteria Provided
Single Submitter

CA8941021

rs_750896617

3 SubmittersRCV000239542 RCV003313948

NM_001330700.2(TOP2B):c.187C>T (p.His63Tyr)

SNV
Germline

Chr3:25645353

Likely pathogenic

Autism spectrum disorder

No Assertion Criteria Provided

CA10588830

rs_886039770

1 SubmittersRCV000256202

NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter)

SNV
Germline

Chr20:50892526

Pathogenic/Likely pathogenic

ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
8 conditions
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA10602716

rs_886041116

19 SubmittersRCV000258940 RCV000414762 RCV000497305 RCV000623455

NM_001282531.3(ADNP):c.2157C>A (p.Tyr719Ter)

SNV
Germline

Chr20:50892557

Pathogenic

Condition: not provided
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10603669

rs_587777526

5 SubmittersRCV000404317 RCV001265359

NM_022552.5(DNMT3A):c.1903C>T (p.Arg635Trp)

SNV
Germline

Chr2:25243931

Conflicting classifications of pathogenicity

Tatton-Brown-Rahman overgrowth syndrome
Condition: not provided
Heyn-Sproul-Jackson syndrome
Acute myeloid leukemia
Tatton-Brown-Rahman overgrowth syndrome
Tatton-Brown-Rahman overgrowth syndrome
Autism spectrum disorder

Criteria Provided
Conflicting Classifications

CA1555830

rs_144689354

5 SubmittersRCV000367312 RCV000433567 RCV003883148 RCV003313065

NM_000341.4(SLC3A1):c.808C>T (p.Arg270Ter)

SNV
Germline

Chr2:44286074

Pathogenic

Cystinuria
Condition: not provided
Autism spectrum disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA1640281

rs_200483989

9 SubmittersRCV000332132 RCV001723928 RCV003313951

NM_018718.3(CEP41):c.988G>C (p.Ala330Pro)

SNV
Germline

Chr7:130399025

Conflicting classifications of pathogenicity

Joubert syndrome 15
Familial Autism Spectrum Disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4485413

rs_368525533

4 SubmittersRCV000354546 RCV001261664 RCV003430934

NM_018718.3(CEP41):c.616C>G (p.Pro206Ala)

SNV
Germline

Chr7:130401907

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 15
Condition: not provided
Familial Autism Spectrum Disorder
CEP41-related disorder

Criteria Provided
Conflicting Classifications

CA4485523

rs_143303575

9 SubmittersRCV000483238 RCV000878420 RCV001702359 RCV001261666 RCV003922590

NM_012309.5(SHANK2):c.900C>T (p.His300=)

SNV
Germline

Chr11:71092434

Conflicting classifications of pathogenicity

Autism spectrum disorder
SHANK2-related disorder

Criteria Provided
Conflicting Classifications

CA6162059

rs_529058522

2 SubmittersRCV000356515 RCV004544518

NM_012309.5(SHANK2):c.613G>T (p.Ala205Ser)

SNV
Germline

Chr11:71094668

Conflicting classifications of pathogenicity

Autism spectrum disorder
SHANK2-related disorder

Criteria Provided
Conflicting Classifications

CA6162097

rs_189053721

2 SubmittersRCV000273870 RCV004544519

NM_012309.5(SHANK2):c.51C>T (p.Ser17=)

SNV
Germline

Chr11:71147276

Conflicting classifications of pathogenicity

Autism spectrum disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6162188

rs_376267466

2 SubmittersRCV000365781 RCV003401304

NM_012309.5(SHANK2):c.332G>A (p.Arg111His)

SNV
Germline

Chr11:71118908

Conflicting classifications of pathogenicity

Autism spectrum disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6162146

rs_368652424

2 SubmittersRCV000336199 RCV002520758

NM_012309.5(SHANK2):c.7C>T (p.Arg3Cys)

SNV
Germline

Chr11:71147320

Conflicting classifications of pathogenicity

Autism spectrum disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6162193

rs_373379917

2 SubmittersRCV000271211 RCV002520760

NM_003097.6(SNRPN):c.3+10A>G

SNV
Germline

Chr15:24974466

Conflicting classifications of pathogenicity

Autism spectrum disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7431255

rs_112560608

2 SubmittersRCV000372539 RCV000951127

NM_012309.5(SHANK2):c.625G>A (p.Asp209Asn)

SNV
Germline

Chr11:71094656

Conflicting classifications of pathogenicity

Autism spectrum disorder
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6162095

rs_183556625

3 SubmittersRCV000368364 RCV002522203 RCV003409474

NM_012309.5(SHANK2):c.168G>A (p.Thr56=)

SNV
Germline

Chr11:71147159

Conflicting classifications of pathogenicity

Autism spectrum disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6162169

rs_150944234

2 SubmittersRCV000400062 RCV003401303

NM_012309.5(SHANK2):c.771A>G (p.Pro257=)

SNV
Germline

Chr11:71092563

Conflicting classifications of pathogenicity

Autism spectrum disorder
SHANK2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6162070

rs_200821952

3 SubmittersRCV000298133 RCV004537724 RCV003884455

NM_012309.5(SHANK2):c.581C>T (p.Pro194Leu)

SNV
Germline

Chr11:71109952

Conflicting classifications of pathogenicity

Autism spectrum disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6162108

rs_782210973

3 SubmittersRCV000328964 RCV003401302

NM_012309.5(SHANK2):c.136G>A (p.Gly46Ser)

SNV
Germline

Chr11:71147191

Conflicting classifications of pathogenicity

Autism spectrum disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6162175

rs_201642016

2 SubmittersRCV000311122 RCV002520759

NM_003097.6(SNRPN):c.183T>C (p.Arg61=)

SNV
Germline

Chr15:24976332

Conflicting classifications of pathogenicity

Autism spectrum disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7431310

rs_373215950

2 SubmittersRCV000261541 RCV000909620

NM_001282531.3(ADNP):c.1102C>T (p.Gln368Ter)

SNV
Germline

Chr20:50893612

Conflicting classifications of pathogenicity

ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10653227

rs_886056775

3 SubmittersRCV000269400 RCV003229829

NM_022552.5(DNMT3A):c.2711C>T (p.Pro904Leu)

SNV
Germline/somatic

Chr2:25234307

Pathogenic/Likely pathogenic

Condition: not provided
Tatton-Brown-Rahman overgrowth syndrome
Autism spectrum disorder
EBV-positive nodal T- and NK-cell lymphoma

Criteria Provided
Multiple Submitters
No Conflicts

CA1555464

rs_149095705

4 SubmittersRCV000413992 RCV003233631 RCV004559047

NM_015570.4(AUTS2):c.1483C>T (p.Arg495Ter)

SNV
Germline

Chr7:70766128

Pathogenic

Condition: not provided
Intellectual disability
Autism spectrum disorder due to AUTS2 deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA16042597

rs_1057517708

5 SubmittersRCV000413202 RCV001260885 RCV001841277

NM_001282531.3(ADNP):c.2213C>G (p.Ser738Ter)

SNV
Germline

Chr20:50892501

Pathogenic

Condition: not provided
Inborn genetic diseases
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA16608474

rs_779340209

4 SubmittersRCV000428470 RCV000622544 RCV001618684 RCV003985350

NM_000188.3(HK1):c.1334C>T (p.Ser445Leu)

SNV
Germline

Chr10:69382555

Pathogenic/Likely pathogenic

Condition: not provided
Neurodevelopmental disorder with visual defects and brain anomalies
Inborn genetic diseases
Retinitis pigmentosa 79
Retinitis pigmentosa
Hemolytic anemia due to hexokinase deficiency
Autism spectrum disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA16618972

rs_1064794848

14 SubmittersRCV000483739 RCV000850128 RCV001266687 RCV001254702 RCV001270352 RCV001770372 RCV003126749

NM_001170629.2(CHD8):c.3308G>T (p.Gly1103Val)

SNV
Germline

Chr14:21403663

Likely pathogenic

Condition: not provided
Intellectual developmental disorder with autism and macrocephaly
Autism spectrum disorder
CHD8-related disorder

Criteria Provided
Single Submitter

CA16619836

rs_1064795655

3 SubmittersRCV000484621 RCV000709955 RCV001265457 RCV004551589

NM_015570.4(AUTS2):c.1295C>A (p.Pro432His)

SNV
Germline

Chr7:70764832

Conflicting classifications of pathogenicity

Condition: not provided
Autism spectrum disorder due to AUTS2 deficiency
AUTS2-related disorder

Criteria Provided
Conflicting Classifications

CA4280613

rs_767529359

4 SubmittersRCV000488170 RCV000626221 RCV003962354

NM_001170629.2(CHD8):c.2854C>T (p.Arg952Ter)

SNV
Germline

Chr14:21406909

Pathogenic

Condition: not provided
Autism spectrum disorder

Criteria Provided
Single Submitter

CA388873929

rs_1131691548

2 SubmittersRCV000493912 RCV001265458

NM_001282531.3(ADNP):c.517C>T (p.Arg173Ter)

SNV
Germline

Chr20:50894197

Pathogenic

ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA408977537

rs_1135401791

3 SubmittersRCV000496157 RCV001008669

NM_001282531.3(ADNP):c.2617G>T (p.Asp873Tyr)

SNV
Germline

Chr20:50892097

Conflicting classifications of pathogenicity

not specified
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9908560

rs_147299402

4 SubmittersRCV000499393 RCV000764249 RCV001545023

NM_004667.6(HERC2):c.8342G>C (p.Ser2781Thr)

SNV
Germline

Chr15:28192070

Conflicting classifications of pathogenicity

Condition: not provided
Developmental delay with autism spectrum disorder and gait instability
Inborn genetic diseases
HERC2-related disorder

Criteria Provided
Conflicting Classifications

CA7441503

rs_146558015

4 SubmittersRCV000520647 RCV002289713 RCV002528277 RCV003962454

NM_004667.6(HERC2):c.4625G>A (p.Arg1542His)

SNV
Germline

Chr15:28233196

Conflicting classifications of pathogenicity

Condition: not provided
Developmental delay with autism spectrum disorder and gait instability

Criteria Provided
Conflicting Classifications

CA7442599

rs_112385654

3 SubmittersRCV000522564 RCV003993998

NM_001170629.2(CHD8):c.4378C>T (p.Arg1460Ter)

SNV
Germline

Chr14:21400605

Pathogenic

Intellectual developmental disorder with autism and macrocephaly
Autism spectrum disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA388894481

rs_1454466097

3 SubmittersRCV000578341 RCV001265455 RCV002263815

NM_015570.4(AUTS2):c.946C>T (p.Arg316Ter)

SNV
Germline

Chr7:70763073

Pathogenic/Likely pathogenic

Condition: not provided
Autism spectrum disorder due to AUTS2 deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA367667532

rs_1554480537

5 SubmittersRCV000579225 RCV000677402

NM_001040142.2(SCN2A):c.2548C>T (p.Arg850Ter)

SNV
Germline

Chr2:165342455

Pathogenic/Likely pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 11
Seizures, benign familial infantile, 3
Autism spectrum disorder
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA349012892

rs_1553578503

5 SubmittersRCV000585495 RCV001055515 RCV003126828 RCV002252172

NM_001282531.3(ADNP):c.1337G>A (p.Trp446Ter)

SNV
Germline

Chr20:50893377

Pathogenic

Inborn genetic diseases
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA408973839

rs_1555810308

2 SubmittersRCV000623945 RCV002506518

NM_001282531.3(ADNP):c.201G>C (p.Gln67His)

SNV
Germline

Chr20:50902017

Likely pathogenic

Inborn genetic diseases
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder

Criteria Provided
Single Submitter

CA408981383

rs_1555812161

2 SubmittersRCV000622881 RCV001265428

NM_004667.6(HERC2):c.9710T>A (p.Leu3237Ter)

SNV
Germline

Chr15:28175633

Pathogenic

Developmental delay with autism spectrum disorder and gait instability

Criteria Provided
Single Submitter

CA391382866

rs_1555415658

1 SubmittersRCV000626149

NM_012243.3(SLC35A3):c.481C>T (p.Gln161Ter)

SNV
Germline

Chr1:100011380

Conflicting classifications of pathogenicity

Autism spectrum disorder - epilepsy - arthrogryposis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA341314931

rs_1553203137

2 SubmittersRCV000651915 RCV000731886

NM_012243.3(SLC35A3):c.342+1G>A

SNV
Germline

Chr1:99999416

Likely pathogenic

Autism spectrum disorder - epilepsy - arthrogryposis syndrome

Criteria Provided
Single Submitter

CA341326777

rs_1553201582

1 SubmittersRCV000651919

NM_015570.4(AUTS2):c.742+1G>A

SNV
Germline

Chr7:70698621

Pathogenic

Condition: not provided
Autism spectrum disorder due to AUTS2 deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554464807

2 SubmittersRCV000657847 RCV001199170

NM_015570.4(AUTS2):c.1247A>G (p.Gln416Arg)

SNV
Germline

Chr7:70764784

Conflicting classifications of pathogenicity

Autism spectrum disorder due to AUTS2 deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_143679158

3 SubmittersRCV000660603 RCV001570820

NM_015100.4(POGZ):c.757C>T (p.Pro253Ser)

SNV
Germline

Chr1:151428225

Conflicting classifications of pathogenicity

Autism spectrum disorder
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_926772662

3 SubmittersRCV000754542 RCV001558701 RCV002315987

NM_002397.5(MEF2C):c.403-1G>T

SNV
Germline

Chr5:88752044

Pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

rs_1561824498

1 SubmittersRCV000754666

NM_014141.6(CNTNAP2):c.1778-1G>C

SNV
Germline

Chr7:147562137

Likely pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

rs_1396313317

1 SubmittersRCV000754684

NM_152722.5(HEPACAM):c.803+1G>A

SNV
Germline

Chr11:124923339

Conflicting classifications of pathogenicity

Autism spectrum disorder
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability

Criteria Provided
Conflicting Classifications

rs_375712202

2 SubmittersRCV000754671 RCV003448336

NM_021008.4(DEAF1):c.664+2T>G

SNV
Germline

Chr11:687909

Likely pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

rs_1564950387

1 SubmittersRCV000754682

NM_002972.4(SBF1):c.1180G>T (p.Glu394Ter)

SNV
Germline

Chr22:50465238

Likely pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

rs_1569513495

1 SubmittersRCV000754681

NM_015570.4(AUTS2):c.1603C>T (p.His535Tyr)

SNV
Germline

Chr7:70766248

Likely pathogenic

Autism spectrum disorder due to AUTS2 deficiency

Criteria Provided
Single Submitter

rs_1563183492

1 SubmittersRCV000708594

NM_001282531.3(ADNP):c.356A>G (p.Lys119Arg)

SNV
Germline

Chr20:50894358

Conflicting classifications of pathogenicity

ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_182284347

3 SubmittersRCV001265426 RCV002315418 RCV002534573

NM_001282531.3(ADNP):c.733G>T (p.Glu245Ter)

SNV
Germline

Chr20:50893981

Pathogenic

ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder

Criteria Provided
Single Submitter

1 SubmittersRCV000760200

NM_015570.4(AUTS2):c.376C>T (p.Arg126Ter)

SNV
Germline

Chr7:69899352

Pathogenic/Likely pathogenic

Condition: not provided
Intellectual disability, autosomal dominant 57
Autism spectrum disorder due to AUTS2 deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_1562957809

6 SubmittersRCV000760625 RCV002227495 RCV003224878

NM_015570.4(AUTS2):c.1600A>C (p.Thr534Pro)

SNV
Germline

Chr7:70766245

Likely pathogenic

Multiple congenital anomalies
Corpus callosum, agenesis of
Autism spectrum disorder due to AUTS2 deficiency
Congenital cerebellar hypoplasia

No Assertion Criteria Provided

rs_1563183469

2 SubmittersRCV000779651 RCV001257949

NM_003036.4(SKI):c.898C>T (p.Leu300Phe)

SNV
Germline

Chr1:2229664

Conflicting classifications of pathogenicity

Condition: not provided
Shprintzen-Goldberg syndrome
Familial thoracic aortic aneurysm and aortic dissection
Autism spectrum disorder

Criteria Provided
Conflicting Classifications

rs_1569660908

4 SubmittersRCV001766666 RCV000803354 RCV002370130 RCV003127469

NM_015570.4(AUTS2):c.901C>T (p.Gln301Ter)

SNV
Germline

Chr7:70763028

Pathogenic

Autism spectrum disorder due to AUTS2 deficiency

Criteria Provided
Single Submitter

rs_1585645641

1 SubmittersRCV000824999

NM_173569.4(UBN2):c.2024+1G>A

SNV
Germline

Chr7:139276148

Likely pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

rs_1585016242

1 SubmittersRCV000850615

NM_004667.6(HERC2):c.8329A>G (p.Met2777Val)

SNV
Germline

Chr15:28192083

Conflicting classifications of pathogenicity

Condition: not provided
Developmental delay with autism spectrum disorder and gait instability

Criteria Provided
Conflicting Classifications

rs_184647895

4 SubmittersRCV000964341 RCV001331289

NM_005909.5(MAP1B):c.3094G>T (p.Glu1032Ter)

SNV
Germline

Chr5:72196449

Pathogenic; risk factor

Cognitive impairment
White matter deficit
Autism spectrum disorder
Hypoplasia of the corpus callosum
Periventricular nodular heterotopia
Periventricular nodular heterotopia 9

No Assertion Criteria Provided

rs_1561315170

2 SubmittersRCV000984867 RCV001195717

NM_005909.5(MAP1B):c.4990C>T (p.Arg1664Ter)

SNV
Germline

Chr5:72198345

Pathogenic/Likely pathogenic

White matter deficit
Cognitive impairment
Periventricular nodular heterotopia
Autism spectrum disorder
Hypoplasia of the corpus callosum
Neurodevelopmental disorder
Periventricular nodular heterotopia 9
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1580026238

4 SubmittersRCV000984868 RCV001262715 RCV001195719 RCV003326506

NM_004667.6(HERC2):c.4126C>T (p.Arg1376Ter)

SNV
Unknown

Chr15:28234162

Likely pathogenic

Developmental delay with autism spectrum disorder and gait instability

Criteria Provided
Single Submitter

rs_575492335

1 SubmittersRCV000989279

NM_004667.6(HERC2):c.1442C>T (p.Thr481Met)

SNV
Germline

Chr15:28269252

Conflicting classifications of pathogenicity

Developmental delay with autism spectrum disorder and gait instability
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_200457382

2 SubmittersRCV000989280 RCV003392718

NM_001282531.3(ADNP):c.-5-1G>C

SNV
Unknown

Chr20:50904002

Pathogenic

ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder

Criteria Provided
Single Submitter

rs_1064796656

1 SubmittersRCV000990317

NM_015570.4(AUTS2):c.1604A>C (p.His535Pro)

SNV
Germline

Chr7:70766249

Likely pathogenic

Autism spectrum disorder due to AUTS2 deficiency

Criteria Provided
Single Submitter

rs_1585653240

1 SubmittersRCV000995503

NM_003073.5(SMARCB1):c.568C>T (p.Arg190Trp)

SNV
Germline

Chr22:23803362

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Schwannomatosis 1
Autism spectrum disorder

Criteria Provided
Conflicting Classifications

rs_1601405064

4 SubmittersRCV001024411 RCV001365280 RCV001195823 RCV003127587

NM_015570.4(AUTS2):c.784C>T (p.Gln262Ter)

SNV
Germline

Chr7:70762911

Likely pathogenic

Autism spectrum disorder due to AUTS2 deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_1585645384

2 SubmittersRCV001027682

NM_012243.3(SLC35A3):c.751C>T (p.Gln251Ter)

SNV
Germline

Chr1:100015418

Pathogenic

Autism spectrum disorder - epilepsy - arthrogryposis syndrome

Criteria Provided
Single Submitter

rs_1660027548

1 SubmittersRCV001070679

NM_021008.4(DEAF1):c.671G>A (p.Arg224Gln)

SNV
Germline

Chr11:686991

Conflicting classifications of pathogenicity

Intellectual disability-epilepsy-extrapyramidal syndrome
Autism spectrum disorder
Condition: not provided
DEAF1-related disorder

Criteria Provided
Conflicting Classifications

rs_1415420832

4 SubmittersRCV001171489 RCV003127670 RCV003718379 RCV004528401

NM_012243.3(SLC35A3):c.724C>T (p.Arg242Ter)

SNV
Germline

Chr1:100015391

Pathogenic

Autism spectrum disorder - epilepsy - arthrogryposis syndrome

Criteria Provided
Single Submitter

rs_1660025629

1 SubmittersRCV001232543

NM_001282531.3(ADNP):c.2150G>A (p.Arg717His)

SNV
Germline

Chr20:50892564

Conflicting classifications of pathogenicity

Condition: not provided
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder

Criteria Provided
Conflicting Classifications

rs_756595568

2 SubmittersRCV001231654 RCV003142195

NM_001353921.2(ARHGEF9):c.889C>T (p.Arg297Cys)

SNV
Germline

ChrX:63674094

Conflicting classifications of pathogenicity

Autism spectrum disorder
Developmental and epileptic encephalopathy, 8
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_2050115619

3 SubmittersRCV001249523 RCV001879754 RCV002447235

NM_001282531.3(ADNP):c.280C>T (p.Arg94Cys)

SNV
Germline

Chr20:50894434

Pathogenic

ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder

No Assertion Criteria Provided

rs_1186714720

1 SubmittersRCV001251875

NM_173495.3(PTCHD1):c.898G>C (p.Gly300Arg)

SNV
Unknown

ChrX:23380137

Likely pathogenic

Autism spectrum disorder

No Assertion Criteria Provided

rs_1922524280

1 SubmittersRCV001252599

NM_002834.5(PTPN11):c.317A>G (p.Asp106Gly)

SNV
Germline

Chr12:112450497

Likely pathogenic

Autism spectrum disorder
Noonan syndrome

Criteria Provided
Single Submitter

2 SubmittersRCV001257614 RCV001261101

NM_018718.3(CEP41):c.602C>G (p.Ser201Cys)

SNV
Germline

Chr7:130401921

Likely pathogenic

Familial Autism Spectrum Disorder

No Assertion Criteria Provided

rs_146662384

1 SubmittersRCV001261712

NM_001282531.3(ADNP):c.2938C>T (p.Gln980Ter)

SNV
Unknown

Chr20:50891776

Likely pathogenic

ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder

Criteria Provided
Single Submitter

rs_1980763449

1 SubmittersRCV001262325

NM_001282531.3(ADNP):c.2213C>A (p.Ser738Ter)

SNV
Germline

Chr20:50892501

Pathogenic

ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
Condition: not provided

Criteria Provided
Single Submitter

rs_779340209

2 SubmittersRCV001265353 RCV001664791

NM_001282531.3(ADNP):c.1033C>T (p.Gln345Ter)

SNV
Germline

Chr20:50893681

Pathogenic

ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder

No Assertion Criteria Provided

rs_1981068436

1 SubmittersRCV001265357

NM_001282531.3(ADNP):c.484C>T (p.Gln162Ter)

SNV
Germline

Chr20:50894230

Pathogenic

ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder

No Assertion Criteria Provided

rs_1981147033

1 SubmittersRCV001265358

NM_015100.4(POGZ):c.3048G>T (p.Glu1016Asp)

SNV
Germline

Chr1:151405987

Likely pathogenic

Autism spectrum disorder

No Assertion Criteria Provided

rs_1653514334

1 SubmittersRCV001291384

NM_001042681.2(RERE):c.2278C>T (p.Gln760Ter)

SNV
Germline

Chr1:8361229

Likely pathogenic

Autism spectrum disorder

No Assertion Criteria Provided

rs_1641565884

1 SubmittersRCV001291371

NM_001172509.2(SATB2):c.1861A>T (p.Ile621Phe)

SNV
Germline

Chr2:199272552

Likely pathogenic

Autism spectrum disorder

No Assertion Criteria Provided

rs_1692190479

1 SubmittersRCV001291383

NM_014991.6(WDFY3):c.2932A>T (p.Arg978Ter)

SNV
Germline

Chr4:84797999

Likely pathogenic

Autism spectrum disorder

No Assertion Criteria Provided

rs_1749810683

1 SubmittersRCV001291370

NM_001374828.1(ARID1B):c.2746C>T (p.Gln916Ter)

SNV
Germline

Chr6:157133192

Likely pathogenic

Autism spectrum disorder

No Assertion Criteria Provided

rs_1554301257

1 SubmittersRCV001291272

NM_006766.5(KAT6A):c.1582C>T (p.Pro528Ser)

SNV
Germline

Chr8:41955312

Likely pathogenic

Autism spectrum disorder

No Assertion Criteria Provided

rs_1822869930

1 SubmittersRCV001291382

NM_001032221.6(STXBP1):c.560C>T (p.Pro187Leu)

SNV
Germline

Chr9:127663335

Pathogenic/Likely pathogenic

Autism spectrum disorder
Early infantile epileptic encephalopathy with suppression bursts
Developmental and epileptic encephalopathy, 4
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1841141204

7 SubmittersRCV001291380 RCV001863164 RCV002051934 RCV002350505 RCV003329397

NM_015338.6(ASXL1):c.1045C>T (p.Gln349Ter)

SNV
Germline

Chr20:32432945

Likely pathogenic

Autism spectrum disorder

No Assertion Criteria Provided

rs_2011568558

1 SubmittersRCV001291374

NM_000548.5(TSC2):c.183A>G (p.Ile61Met)

SNV
Germline

Chr16:2050444

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Autism spectrum disorder
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

rs_2084961841

3 SubmittersRCV001304127 RCV003127778 RCV003462870

NM_015570.4(AUTS2):c.2T>C (p.Met1Thr)

SNV
Germline

Chr7:69599655

Pathogenic

Autism spectrum disorder due to AUTS2 deficiency

Criteria Provided
Single Submitter

rs_1792258600

1 SubmittersRCV001336298

NM_022552.5(DNMT3A):c.1004A>G (p.Lys335Arg)

SNV
Germline

Chr2:25247601

Pathogenic/Likely pathogenic

Neonatal hypotonia
Autism spectrum disorder
Tatton-Brown-Rahman overgrowth syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2149307214

3 SubmittersRCV001376132 RCV001871979 RCV002285481

NM_012243.3(SLC35A3):c.211C>T (p.Arg71Ter)

SNV
Germline

Chr1:99999284

Pathogenic

Autism spectrum disorder - epilepsy - arthrogryposis syndrome

Criteria Provided
Single Submitter

rs_778502240

1 SubmittersRCV001384087

NM_015570.4(AUTS2):c.1611C>A (p.His537Gln)

SNV
Germline

Chr7:70766256

Likely pathogenic

Autism spectrum disorder due to AUTS2 deficiency

No Assertion Criteria Provided

rs_1383001370

1 SubmittersRCV001788502

NM_015570.4(AUTS2):c.1A>T (p.Met1Leu)

SNV
Germline

Chr7:69599654

Pathogenic

Autism spectrum disorder due to AUTS2 deficiency

Criteria Provided
Single Submitter

rs_2129067294

1 SubmittersRCV001528177

NM_001330078.2(NRXN1):c.3430C>T (p.Arg1144Ter)

SNV
Germline

Chr2:50236905

Pathogenic/Likely pathogenic

Condition: not provided
Autism spectrum disorder
Pitt-Hopkins-like syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_1282230077

3 SubmittersRCV001546634 RCV003322895 RCV003619744

NM_001282531.3(ADNP):c.2561C>T (p.Ser854Phe)

SNV
Germline

Chr20:50892153

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder

Criteria Provided
Conflicting Classifications

rs_376827094

4 SubmittersRCV001566175 RCV002458532 RCV003136107

NM_003590.5(CUL3):c.1636C>T (p.Arg546Ter)

SNV
Germline

Chr2:224497824

Conflicting classifications of pathogenicity

Condition: not provided
Neurodevelopmental disorder with or without autism or seizures
Autism spectrum disorder

Criteria Provided
Conflicting Classifications

rs_767240461

4 SubmittersRCV001593457 RCV002290728 RCV003127994

NM_001282531.3(ADNP):c.3095C>G (p.Ser1032Cys)

SNV
Germline

Chr20:50891619

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder

Criteria Provided
Conflicting Classifications

rs_559915015

4 SubmittersRCV001708709 RCV002538652 RCV003136126

NM_001282531.3(ADNP):c.2189G>A (p.Arg730Gln)

SNV
Germline

Chr20:50892525

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
ADNP-related disorder

Criteria Provided
Conflicting Classifications

rs_377051194

5 SubmittersRCV001732533 RCV002543902 RCV003136128 RCV003941114

NM_015570.4(AUTS2):c.1018C>T (p.Gln340Ter)

SNV
Germline

Chr7:70763145

Pathogenic/Likely pathogenic

Condition: not provided
Autism spectrum disorder due to AUTS2 deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_2129556993

2 SubmittersRCV003238008 RCV003336430

NM_015570.4(AUTS2):c.478C>T (p.Gln160Ter)

SNV
Germline

Chr7:69899454

Likely pathogenic

Autism spectrum disorder due to AUTS2 deficiency

Criteria Provided
Single Submitter

rs_2129540473

1 SubmittersRCV001784118

NM_001282531.3(ADNP):c.2454C>G (p.Tyr818Ter)

SNV
Germline

Chr20:50892260

Pathogenic

ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_2122743080

2 SubmittersRCV001814826

NM_001282531.3(ADNP):c.2387G>A (p.Trp796Ter)

SNV
Germline

Chr20:50892327

Pathogenic

ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder

Criteria Provided
Single Submitter

rs_2122743549

1 SubmittersRCV001823314

NM_012309.5(SHANK2):c.1924C>T (p.Arg642Ter)

SNV
Germline

Chr11:70661608

Pathogenic

Autism spectrum disorder
Rare disease with autism

Criteria Provided
Single Submitter

rs_2134275196

2 SubmittersRCV001825309 RCV002287509

NM_004667.6(HERC2):c.1168C>T (p.Arg390Ter)

SNV
Germline

Chr15:28270784

Pathogenic

Developmental delay with autism spectrum disorder and gait instability

Criteria Provided
Single Submitter

rs_756221917

1 SubmittersRCV001839180

NM_016188.5(ACTL6B):c.1177G>A (p.Gly393Arg)

SNV
Germline

Chr7:100646272

Pathogenic

Autism spectrum disorder

No Assertion Criteria Provided

rs_986702153

1 SubmittersRCV001849716

NM_016188.5(ACTL6B):c.460C>T (p.Leu154Phe)

SNV
Germline

Chr7:100650045

Pathogenic

Autism spectrum disorder

No Assertion Criteria Provided

rs_2131335751

1 SubmittersRCV001849717

NM_016188.5(ACTL6B):c.892C>T (p.Arg298Ter)

SNV
Germline

Chr7:100647015

Pathogenic

Autism spectrum disorder

No Assertion Criteria Provided

rs_2131333638

1 SubmittersRCV001849718

NM_016188.5(ACTL6B):c.523A>C (p.Thr175Pro)

SNV
Germline

Chr7:100648768

Pathogenic

Autism spectrum disorder

No Assertion Criteria Provided

rs_2131334872

1 SubmittersRCV001849719

NM_016188.5(ACTL6B):c.1249G>T (p.Gly417Trp)

SNV
Germline

Chr7:100643278

Pathogenic

Autism spectrum disorder

No Assertion Criteria Provided

rs_746964903

1 SubmittersRCV001849721

NM_001376.5(DYNC1H1):c.12419G>A (p.Arg4140His)

SNV
Germline

Chr14:102042654

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Intellectual disability, autosomal dominant 13
Autism spectrum disorder

Criteria Provided
Conflicting Classifications

rs_770451110

3 SubmittersRCV001957279 RCV002466275 RCV003126001

NM_012243.3(SLC35A3):c.595G>T (p.Glu199Ter)

SNV
Germline

Chr1:100011494

Pathogenic

Autism spectrum disorder - epilepsy - arthrogryposis syndrome

Criteria Provided
Single Submitter

rs_2101370069

1 SubmittersRCV001939461

NM_006662.3(SRCAP):c.143C>T (p.Pro48Leu)

SNV
Germline

Chr16:30704152

Conflicting classifications of pathogenicity

Condition: not provided
Autism spectrum disorder

Criteria Provided
Conflicting Classifications

rs_1170509653

2 SubmittersRCV001889798 RCV003125947

NM_012243.3(SLC35A3):c.21C>G (p.Tyr7Ter)

SNV
Germline

Chr1:99993575

Pathogenic/Likely pathogenic

Autism spectrum disorder - epilepsy - arthrogryposis syndrome
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

rs_775151826

2 SubmittersRCV001960201 RCV002561472

NM_001271.4(CHD2):c.5134C>T (p.His1712Tyr)

SNV
Germline

Chr15:93020239

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy 94
Autism spectrum disorder

Criteria Provided
Conflicting Classifications

rs_1006465697

2 SubmittersRCV001946251 RCV003126010

NM_012243.3(SLC35A3):c.842C>A (p.Ser281Ter)

SNV
Germline

Chr1:100017770

Pathogenic

Autism spectrum disorder - epilepsy - arthrogryposis syndrome

Criteria Provided
Single Submitter

rs_1660258358

1 SubmittersRCV001914135

NM_022552.5(DNMT3A):c.1978T>C (p.Tyr660His)

SNV
Germline

Chr2:25241666

Likely pathogenic

Tatton-Brown-Rahman overgrowth syndrome
Autism spectrum disorder
Condition: not provided

Criteria Provided
Single Submitter

rs_1674056899

2 SubmittersRCV002226414 RCV003238890

NM_001282531.3(ADNP):c.662T>G (p.Ile221Ser)

SNV
Germline

Chr20:50894052

Conflicting classifications of pathogenicity

ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_747105829

2 SubmittersRCV002227699 RCV003101299

NM_012243.3(SLC35A3):c.74G>T (p.Arg25Leu)

SNV
Germline

Chr1:99993628

Pathogenic

Autism spectrum disorder - epilepsy - arthrogryposis syndrome

No Assertion Criteria Provided

rs_903783945

1 SubmittersRCV002248442

NM_012243.3(SLC35A3):c.-18-1G>T

SNV
Germline

Chr1:99993536

Pathogenic

Autism spectrum disorder - epilepsy - arthrogryposis syndrome

No Assertion Criteria Provided

rs_2101132521

1 SubmittersRCV002248445

NM_001282531.3(ADNP):c.2278G>T (p.Glu760Ter)

SNV
Germline

Chr20:50892436

Likely pathogenic

ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder

Criteria Provided
Single Submitter

rs_1221864735

1 SubmittersRCV002251122

NM_015570.4(AUTS2):c.3008C>T (p.Ser1003Leu)

SNV
Germline

Chr7:70790224

Conflicting classifications of pathogenicity

Autism spectrum disorder due to AUTS2 deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_543645962

2 SubmittersRCV002266797 RCV003164390

NM_004667.6(HERC2):c.13279C>T (p.Arg4427Ter)

SNV
Germline

Chr15:28117148

Likely pathogenic

Developmental delay with autism spectrum disorder and gait instability

Criteria Provided
Single Submitter

rs_1224448657

1 SubmittersRCV002266820

NM_001040142.2(SCN2A):c.1157G>A (p.Trp386Ter)

SNV
Germline

Chr2:165313742

Pathogenic

unclassified developmental and epileptic encephalopathy
Autism spectrum disorder

No Assertion Criteria Provided

1 SubmittersRCV003155987

NM_001282531.3(ADNP):c.2292T>G (p.Tyr764Ter)

SNV
Germline

Chr20:50892422

Pathogenic

ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder

Criteria Provided
Single Submitter

1 SubmittersRCV002289213

NM_000264.5(PTCH1):c.2266C>T (p.Leu756Phe)

SNV
Germline

Chr9:95467410

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Gorlin syndrome
Autism spectrum disorder

Criteria Provided
Conflicting Classifications

4 SubmittersRCV002443814 RCV003151408 RCV003098764 RCV003126251

NM_001282531.3(ADNP):c.1108C>G (p.Leu370Val)

SNV
Germline

Chr20:50893606

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002428659 RCV003102065 RCV003492768

NM_001289080.2(CNTN6):c.1492+1G>T

SNV
Unknown

Chr3:1352452

Likely pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

1 SubmittersRCV002465064

NM_015570.4(AUTS2):c.1531G>A (p.Gly511Arg)

SNV
Germline

Chr7:70766176

Conflicting classifications of pathogenicity

Autism spectrum disorder due to AUTS2 deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002467479 RCV003222432

NM_015570.4(AUTS2):c.2609G>A (p.Arg870His)

SNV
Germline

Chr7:70789825

Conflicting classifications of pathogenicity

Autism spectrum disorder due to AUTS2 deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002471323 RCV002573603

NM_001282531.3(ADNP):c.2000G>T (p.Cys667Phe)

SNV
Germline

Chr20:50892714

Likely pathogenic

ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder

Criteria Provided
Single Submitter

1 SubmittersRCV002471821

NM_015570.4(AUTS2):c.1135C>T (p.Gln379Ter)

SNV
Germline

Chr7:70763262

Pathogenic

Autism spectrum disorder due to AUTS2 deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002472101

NM_000834.5(GRIN2B):c.1844A>G (p.Asn615Ser)

SNV
Germline

Chr12:13608769

Pathogenic

GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder

Criteria Provided
Single Submitter

1 SubmittersRCV002472265

NM_006766.5(KAT6A):c.3661G>A (p.Glu1221Lys)

SNV
Germline

Chr8:41934559

Conflicting classifications of pathogenicity

Condition: not provided
Autism spectrum disorder

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002612845 RCV003314041

NM_015570.4(AUTS2):c.3299C>A (p.Pro1100Gln)

SNV
Germline

Chr7:70790515

Conflicting classifications of pathogenicity

Condition: not provided
Autism spectrum disorder due to AUTS2 deficiency

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002636342 RCV003492773

NM_012243.3(SLC35A3):c.615G>A (p.Trp205Ter)

SNV
Germline

Chr1:100011514

Pathogenic

Autism spectrum disorder - epilepsy - arthrogryposis syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002900428

NM_004958.4(MTOR):c.1111G>T (p.Asp371Tyr)

SNV
Germline

Chr1:11247824

Conflicting classifications of pathogenicity

Condition: not provided
Autism spectrum disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002996289 RCV003126262

NM_012243.3(SLC35A3):c.735G>A (p.Trp245Ter)

SNV
Germline

Chr1:100015402

Pathogenic

Autism spectrum disorder - epilepsy - arthrogryposis syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002988546

NM_015570.4(AUTS2):c.421A>G (p.Arg141Gly)

SNV
Germline

Chr7:69899397

Conflicting classifications of pathogenicity

Condition: not provided
Autism spectrum disorder due to AUTS2 deficiency

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003011234 RCV003333229

NM_012243.3(SLC35A3):c.340C>T (p.Gln114Ter)

SNV
Germline

Chr1:99999413

Pathogenic

Autism spectrum disorder - epilepsy - arthrogryposis syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003017355

NM_170606.3(KMT2C):c.13040C>T (p.Pro4347Leu)

SNV
Germline

Chr7:152148887

Conflicting classifications of pathogenicity

Autism spectrum disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003126281 RCV002931063

NM_015570.4(AUTS2):c.2005-1G>C

SNV
Germline

Chr7:70781614

Likely pathogenic

Autism spectrum disorder due to AUTS2 deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003123341

NM_001271.4(CHD2):c.3427T>G (p.Tyr1143Asp)

SNV
Germline

Chr15:92991489

Likely pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

1 SubmittersRCV003127236

NM_001320.7(CSNK2B):c.72+1G>T

SNV
Germline

Chr6:31666904

Likely pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

1 SubmittersRCV003127240

NM_002397.5(MEF2C):c.301C>A (p.Pro101Thr)

SNV
Germline

Chr5:88761286

Likely pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

1 SubmittersRCV003127257

NM_001376.5(DYNC1H1):c.12653C>T (p.Thr4218Met)

SNV
Germline

Chr14:102044014

Conflicting classifications of pathogenicity

Autism spectrum disorder
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003127280 RCV003643039

NM_001376.5(DYNC1H1):c.4396-1G>C

SNV
Germline

Chr14:102001534

Likely pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

1 SubmittersRCV003127281

NM_001161352.2(KCNMA1):c.1845C>G (p.Phe615Leu)

SNV
Germline

Chr10:77039542

Likely pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

1 SubmittersRCV003127290

NM_003797.5(EED):c.767T>C (p.Met256Thr)

SNV
Germline

Chr11:86266123

Likely pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

1 SubmittersRCV003127305

NM_001110792.2(MECP2):c.881A>G (p.Glu294Gly)

SNV
Germline

ChrX:154030983

Likely pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

1 SubmittersRCV003127312

NM_005215.4(DCC):c.617A>T (p.Asp206Val)

SNV
Germline

Chr18:52906248

Likely pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

1 SubmittersRCV003127317

NM_001378418.1(TCF20):c.2803C>T (p.Gln935Ter)

SNV
Germline

Chr22:42212503

Pathogenic

Autism spectrum disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003127328 RCV003565619

NM_005654.6(NR2F1):c.1184G>C (p.Gly395Ala)

SNV
Germline

Chr5:93593754

Likely pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

1 SubmittersRCV003127332

NM_006618.5(KDM5B):c.4189C>T (p.Arg1397Ter)

SNV
Germline

Chr1:202730015

Conflicting classifications of pathogenicity

Autism spectrum disorder
Intellectual disability, autosomal recessive 65

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003127343 RCV003135286

NM_006766.5(KAT6A):c.4674C>A (p.Ser1558Arg)

SNV
Germline

Chr8:41933546

Likely pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

1 SubmittersRCV003127346

NM_014159.7(SETD2):c.5122C>T (p.Arg1708Ter)

SNV
Germline

Chr3:47097975

Likely pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

1 SubmittersRCV003127362

NM_014704.4(CEP104):c.1241T>A (p.Leu414Ter)

SNV
Germline

Chr1:3836571

Likely pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

1 SubmittersRCV003127370

NM_014727.3(KMT2B):c.428C>T (p.Ser143Phe)

SNV
Germline

Chr19:35719533

Conflicting classifications of pathogenicity

Autism spectrum disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003127374 RCV003699028

NM_015001.3(SPEN):c.7232C>A (p.Ser2411Ter)

SNV
Germline

Chr1:15933472

Likely pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

1 SubmittersRCV003127378

NM_015151.4(DIP2A):c.1429+2T>G

SNV
Germline

Chr21:46533649

Likely pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

1 SubmittersRCV003127387

NM_015570.4(AUTS2):c.940C>T (p.Gln314Ter)

SNV
Germline

Chr7:70763067

Pathogenic/Likely pathogenic

Autism spectrum disorder due to AUTS2 deficiency
AUTS2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003127401 RCV003395701

NM_016604.4(KDM3B):c.3047-1G>A

SNV
Germline

Chr5:138399859

Likely pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

1 SubmittersRCV003127406

NM_018263.6(ASXL2):c.2326A>C (p.Thr776Pro)

SNV
Germline

Chr2:25744011

Likely pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

1 SubmittersRCV003127412

NM_001005273.3(CHD3):c.107A>T (p.Asp36Val)

SNV
Germline

Chr17:7889670

Conflicting classifications of pathogenicity

Autism spectrum disorder
CHD3-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003127414 RCV003410264

NM_001375380.1(EBF3):c.232C>T (p.Gln78Ter)

SNV
Germline

Chr10:129963426

Pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

1 SubmittersRCV003127425

NM_022552.5(DNMT3A):c.745C>T (p.Gln249Ter)

SNV
Germline

Chr2:25248147

Likely pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

1 SubmittersRCV003127441

NM_001375765.1(GIGYF1):c.3106T>G (p.Ter1036Gly)

SNV
Germline

Chr7:100681721

Pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

1 SubmittersRCV003127444

NM_030632.3(ASXL3):c.3737C>A (p.Ser1246Ter)

SNV
Germline

Chr18:33743585

Pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

1 SubmittersRCV003127456

NM_052867.4(NALCN):c.19A>T (p.Ser7Cys)

SNV
Germline

Chr13:101399108

Conflicting classifications of pathogenicity

Autism spectrum disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003127466 RCV003778680

NM_001129.5(AEBP1):c.2604C>A (p.Cys868Ter)

SNV
Germline

Chr7:44113025

Likely pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

1 SubmittersRCV003128038

NM_001148.6(ANK2):c.9184G>T (p.Glu3062Ter)

SNV
Germline

Chr4:113357802

Pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

1 SubmittersRCV003128046

NM_001162501.2(TNRC6B):c.2641C>T (p.Gln881Ter)

SNV
Germline

Chr22:40266871

Pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

1 SubmittersRCV003128048

NM_014989.7(RIMS1):c.1679-20550G>A

SNV
Germline

Chr6:72213223

Likely pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

1 SubmittersRCV003128056

NM_001170629.2(CHD8):c.3511C>T (p.Gln1171Ter)

SNV
Germline

Chr14:21403460

Pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

1 SubmittersRCV003128059

NM_001197104.2(KMT2A):c.10835+1G>A

SNV
Germline

Chr11:118507610

Likely pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

1 SubmittersRCV003128060

NM_015100.4(POGZ):c.1418A>G (p.Tyr473Cys)

SNV
Germline

Chr1:151424054

Likely pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

1 SubmittersRCV003128066

NM_015570.4(AUTS2):c.454C>T (p.Arg152Ter)

SNV
Unknown

Chr7:69899430

Likely pathogenic

Autism spectrum disorder due to AUTS2 deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003153054

NM_015570.4(AUTS2):c.2224+1G>T

SNV
Germline

Chr7:70785020

Likely pathogenic

Autism spectrum disorder due to AUTS2 deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003223549

NM_015570.4(AUTS2):c.1557C>A (p.Tyr519Ter)

SNV
Unknown

Chr7:70766202

Likely pathogenic

Autism spectrum disorder due to AUTS2 deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003326212

NM_012243.3(SLC35A3):c.811G>T (p.Gly271Ter)

SNV
Germline

Chr1:100017739

Pathogenic

Autism spectrum disorder - epilepsy - arthrogryposis syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003745706

NM_012243.3(SLC35A3):c.635-2A>T

SNV
Germline

Chr1:100015300

Likely pathogenic

Autism spectrum disorder - epilepsy - arthrogryposis syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003745844

NM_012243.3(SLC35A3):c.188-1G>T

SNV
Germline

Chr1:99999260

Likely pathogenic

Autism spectrum disorder - epilepsy - arthrogryposis syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003745977

NM_015570.4(AUTS2):c.2411C>T (p.Pro804Leu)

SNV
Germline

Chr7:70787311

Conflicting classifications of pathogenicity

Condition: not provided
Autism spectrum disorder due to AUTS2 deficiency

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003732368 RCV004527463

NM_012243.3(SLC35A3):c.423G>A (p.Trp141Ter)

SNV
Germline

Chr1:100007114

Pathogenic

Autism spectrum disorder - epilepsy - arthrogryposis syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003847930

NM_015570.4(AUTS2):c.1902+1G>A

SNV
Germline

Chr7:70774100

Pathogenic

Autism spectrum disorder due to AUTS2 deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003883293

NM_001282531.3(ADNP):c.2468T>G (p.Leu823Trp)

SNV
Germline

Chr20:50892246

Likely pathogenic

ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder

Criteria Provided
Single Submitter

1 SubmittersRCV003991505