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	18 SubmittersRCV000003515 RCV000083663 RCV000288398 RCV003313913 RCV003944795
NM_000901.5(NR3C2):c.1609C>T (p.Arg537Ter)	SNV Germline	Chr4:148435252	Pathogenic	Autism spectrum disorder Autosomal dominant pseudohypoaldosteronism type 1	Criteria Provided Single Submitter	CA119730	rs_121912562	2 SubmittersRCV000754683 RCV000009086
NM_001170629.2(CHD8):c.3519-2A>G	SNV Germline	Chr14:21403214	Pathogenic	Condition: not provided Intellectual developmental disorder with autism and macrocephaly Autism spectrum disorder	Criteria Provided Single Submitter	CA388900611	rs_1594344233	3 SubmittersRCV001555708 RCV000032828 RCV001291274
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn)	SNV Germline	Chr15:66435145	Pathogenic	Condition: not provided RASopathy Cardiofaciocutaneous syndrome 3 Cardio-facio-cutaneous syndrome Autism spectrum disorder Cardio-facio-cutaneous syndrome Noonan syndrome MAP2K1-related RASopathy Cardiovascular phenotype Cardiofaciocutaneous syndrome 3 Melorheostosis Cardiofaciocutaneous syndrome 1	Reviewed By Expert Panel	CA180743	rs_727504317	16 SubmittersRCV000212506 RCV000158004 RCV000192193 RCV000208771 RCV000754677 RCV000844673 RCV001095724 RCV002415455 RCV003224114 RCV004760352
NM_000368.5(TSC1):c.346T>G (p.Leu116Val)	SNV Germline	Chr9:132925604	Conflicting classifications of pathogenicity	Autism spectrum disorder not specified Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome Isolated focal cortical dysplasia type II Condition: not provided Tuberous sclerosis 1 TSC1-related disorder Isolated focal cortical dysplasia type II Lymphangiomyomatosis Tuberous sclerosis 1	Criteria Provided Conflicting Classifications	CA007386	rs_199620268	18 SubmittersRCV000055027 RCV000122184 RCV000055005 RCV000163292 RCV000372436 RCV000725839 RCV001080106 RCV003934997 RCV005394288
NM_000548.5(TSC2):c.2632C>T (p.Pro878Ser)	SNV Germline	Chr16:2075885	Conflicting classifications of pathogenicity	Autism spectrum disorder not specified Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome Tuberous sclerosis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA017740	rs_397515077	9 SubmittersRCV000055380 RCV000189909 RCV000055315 RCV000562671 RCV000644061 RCV004998179
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 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome TSC2-related disorder Tuberous sclerosis 2 Lymphangiomyomatosis Isolated focal cortical dysplasia type II Condition: not provided	Criteria Provided Conflicting Classifications	CA021670	rs_397515110	7 SubmittersRCV000055361 RCV000644174 RCV002336202 RCV003996478 RCV004537241 RCV005007983 RCV005054153
NM_000548.5(TSC2):c.5155G>A (p.Ala1719Thr)	SNV Germline	Chr16:2088134	Conflicting classifications of pathogenicity	Autism spectrum disorder Condition: not provided Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome	Criteria Provided Conflicting Classifications	CA021901	rs_201206500	6 SubmittersRCV000055435 RCV003162430 RCV000468508 RCV000572428 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 Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Condition: not provided TSC2-related disorder	Criteria Provided Conflicting Classifications	CA019782	rs_397515209	12 SubmittersRCV000055507 RCV000055604 RCV000190025 RCV000458400 RCV000571810 RCV001703964 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	8 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	11 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 ADNP-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA163346	rs_587777526	13 SubmittersRCV000128578 RCV000190684 RCV000483727 RCV004739427
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	5 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 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA301420	rs_786205755	4 SubmittersRCV000170794 RCV000465144 RCV003126565 RCV005404305
NM_001374828.1(ARID1B):c.2902C>T (p.Arg968Ter)	SNV Germline	Chr6:157148764	Pathogenic	Condition: not provided Autism spectrum disorder Coffin-Siris syndrome 1 ARID1B-related BAFopathy	Criteria Provided Multiple Submitters No Conflicts	CA203785	rs_794727977	7 SubmittersRCV000358610 RCV001291271 RCV001330749 RCV001533110
NM_002397.5(MEF2C):c.766C>T (p.Arg256Ter)	SNV Germline	Chr5:88731773	Pathogenic	Autism spectrum disorder Intellectual disability 5q14.3 microdeletion syndrome Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language	Criteria Provided Multiple Submitters No Conflicts	CA315931	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 Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language	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 Isolated focal cortical dysplasia type II Autism spectrum disorder Tuberous sclerosis 2 Lymphangiomyomatosis Isolated focal cortical dysplasia type II Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome	Criteria Provided Conflicting Classifications	CA319427	rs_796053483	10 SubmittersRCV000189974 RCV003462292 RCV000754678 RCV000812345 RCV005016538 RCV002257481 RCV003996880
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	6 SubmittersRCV000203211 RCV000727185 RCV003147405
NM_024757.5(EHMT1):c.3413G>A (p.Trp1138Ter)	SNV Germline	Chr9:137817477	Pathogenic	Kleefstra syndrome 1 Autism spectrum disorder	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 Multiple Submitters No Conflicts	CA8941021	rs_750896617	4 SubmittersRCV000239542 RCV003313948
NM_001330700.2(TOP2B):c.187C>T (p.His63Tyr)	SNV Germline	Chr3:25645353	Pathogenic	Autism spectrum disorder Condition: not provided	Criteria Provided Single Submitter	CA10588830	rs_886039770	2 SubmittersRCV000256202 RCV005090302
NM_174905.4(FAM98C):c.844C>T (p.Arg282Ter)	SNV Germline	Chr19:38407003	Likely pathogenic	Asphyxiating thoracic dystrophy 3 Autism spectrum disorder	No Assertion Criteria Provided	CA9415017	rs_201037487	2 SubmittersRCV000256417 RCV003313949
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 Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10602716	rs_886041116	22 SubmittersRCV000258940 RCV000414762 RCV000623455 RCV000497305
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 Inborn genetic diseases ADNP-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA10603669	rs_587777526	7 SubmittersRCV000404317 RCV001265359 RCV004975381 RCV004739651
NM_022552.5(DNMT3A):c.1903C>T (p.Arg635Trp)	SNV Germline/somatic	Chr2:25243931	Conflicting classifications of pathogenicity	Tatton-Brown-Rahman overgrowth syndrome Condition: not provided Autism spectrum disorder Tatton-Brown-Rahman overgrowth syndrome Acute myeloid leukemia Tatton-Brown-Rahman overgrowth syndrome Heyn-Sproul-Jackson syndrome Neoplasm Inborn genetic diseases DNMT3A-related disorder	Criteria Provided Conflicting Classifications	CA1555830	rs_144689354	10 SubmittersRCV000367312 RCV000433567 RCV003313065 RCV003883148 RCV004668881 RCV005328235 RCV004745319
NM_000341.4(SLC3A1):c.808C>T (p.Arg270Ter)	SNV Germline	Chr2:44286074	Pathogenic	Cystinuria Autism spectrum disorder Condition: not provided SLC3A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA1640281	rs_200483989	14 SubmittersRCV000332132 RCV003313951 RCV001723928 RCV004754396
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	5 SubmittersRCV000354546 RCV001261664 RCV003430934
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala)	SNV Germline	Chr7:130401907	Conflicting classifications of pathogenicity	not specified Familial Autism Spectrum Disorder Joubert syndrome 15 Condition: not provided CEP41-related disorder Intellectual disability	Criteria Provided Conflicting Classifications	CA4485523	rs_143303575	10 SubmittersRCV000483238 RCV001261666 RCV000878420 RCV001702359 RCV003922590 RCV005621939
NM_012309.5(SHANK2):c.396C>A (p.Gly132=)	SNV Germline	Chr11:71118844	Conflicting classifications of pathogenicity	Autism spectrum disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA6162137	rs_148065633	2 SubmittersRCV000339646 RCV005256591
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	3 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	4 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	3 SubmittersRCV000400062 RCV003401303
NM_012309.5(SHANK2):c.771A>G (p.Pro257=)	SNV Germline	Chr11:71092563	Conflicting classifications of pathogenicity	Autism spectrum disorder Condition: not provided SHANK2-related disorder	Criteria Provided Conflicting Classifications	CA6162070	rs_200821952	3 SubmittersRCV000298133 RCV003884455 RCV004537724
NM_012309.5(SHANK2):c.581C>T (p.Pro194Leu)	SNV Germline	Chr11:71109952	Conflicting classifications of pathogenicity	Autism spectrum disorder Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6162108	rs_782210973	4 SubmittersRCV000328964 RCV003401302 RCV004955410
NM_012309.5(SHANK2):c.136G>A (p.Gly46Ser)	SNV Germline	Chr11:71147191	Conflicting classifications of pathogenicity	Autism spectrum disorder Inborn genetic diseases Condition: not provided Intellectual disability	Criteria Provided Conflicting Classifications	CA6162175	rs_201642016	4 SubmittersRCV000311122 RCV002520759 RCV005411409 RCV005625530
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 Tatton-Brown-Rahman overgrowth syndrome	Criteria Provided Multiple Submitters No Conflicts	CA1555464	rs_149095705	5 SubmittersRCV000413992 RCV003233631 RCV004559047 RCV004725203
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.673C>T (p.Arg225Ter)	SNV Germline	Chr20:50894041	Pathogenic/Likely pathogenic	Autism, severe intellectual deficiency Global developmental delay ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16043635	rs_1057518991	5 SubmittersRCV000414834 RCV001526556 RCV005252882 RCV003437160
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_014141.6(CNTNAP2):c.682G>A (p.Gly228Arg)	SNV Germline	Chr7:147108278	Conflicting classifications of pathogenicity	Condition: not provided Cortical dysplasia-focal epilepsy syndrome Autism spectrum disorder Intellectual disability Epilepsy Autism, susceptibility to, 15 Cortical dysplasia-focal epilepsy syndrome	Criteria Provided Conflicting Classifications	CA4545862	rs_371512835	5 SubmittersRCV000483093 RCV001851204 RCV001553785 RCV005034019
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 Retinitis pigmentosa 79 Inborn genetic diseases Retinitis pigmentosa Hemolytic anemia due to hexokinase deficiency Autism spectrum disorder Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA16618972	rs_1064794848	17 SubmittersRCV000483739 RCV000850128 RCV001254702 RCV001266687 RCV001270352 RCV001770372 RCV003126749 RCV004816693
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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4280613	rs_767529359	5 SubmittersRCV000488170 RCV000626221 RCV003962354 RCV005286104
NM_015570.4(AUTS2):c.2693C>G (p.Ser898Trp)	SNV Germline	Chr7:70789909	Conflicting classifications of pathogenicity	Condition: not provided Autism spectrum disorder due to AUTS2 deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4281152	rs_534033649	3 SubmittersRCV000487530 RCV001250575 RCV004965498
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	4 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 HERC2-related disorder Inborn genetic diseases Developmental delay with autism spectrum disorder and gait instability	Criteria Provided Conflicting Classifications	CA7441503	rs_146558015	4 SubmittersRCV000520647 RCV003962454 RCV002528277 RCV002289713
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	4 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	6 SubmittersRCV000579225 RCV000677402
NM_001040142.2(SCN2A):c.2548C>T (p.Arg850Ter)	SNV Germline	Chr2:165342455	Pathogenic/Likely pathogenic	Condition: not provided Seizures, benign familial infantile, 3 Developmental and epileptic encephalopathy, 11 See cases Autism spectrum disorder Episodic ataxia, type 9	Criteria Provided Multiple Submitters No Conflicts	CA349012892	rs_1553578503	6 SubmittersRCV000585495 RCV001055515 RCV002252172 RCV003126828 RCV004783819
NM_015570.4(AUTS2):c.1264A>G (p.Ile422Val)	SNV Germline	Chr7:70764801	Conflicting classifications of pathogenicity	Condition: not provided Autism spectrum disorder due to AUTS2 deficiency	Criteria Provided Conflicting Classifications	CA4280609	rs_376584055	3 SubmittersRCV000584971 RCV005231136
NM_001282531.3(ADNP):c.1063G>A (p.Ala355Thr)	SNV Germline	Chr20:50893651	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	CA9908790	rs_200625964	5 SubmittersRCV000597749 RCV002315891 RCV005027703 RCV003945402
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	Condition: not provided Autism spectrum disorder - epilepsy - arthrogryposis syndrome	Criteria Provided Conflicting Classifications	CA341314931	rs_1553203137	3 SubmittersRCV000731886 RCV000651915
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	CA367667046	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	CA4280607	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	CA29588038	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	CA360424067	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	CA369926501	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	CA6345654	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	CA378933257	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	CA412218694	rs_1569513495	1 SubmittersRCV000754681
NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter)	SNV Germline	Chr10:16940152	Pathogenic/Likely pathogenic	Imerslund-Grasbeck syndrome Condition: not provided Proteinuria, chronic benign Imerslund-Grasbeck syndrome type 1 Autism spectrum disorder CUBN-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA5424004	rs_143944436	10 SubmittersRCV000705555 RCV001547777 RCV001536070 RCV003313972 RCV003918139
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	CA367668938	rs_1563183492	1 SubmittersRCV000708594
NM_001282531.3(ADNP):c.724G>A (p.Glu242Lys)	SNV Germline	Chr20:50893990	Conflicting classifications of pathogenicity	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA408976434	rs_1568710507	3 SubmittersRCV004723134 RCV002318033 RCV005231305
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	CA9908901	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	CA408976348	rs_1568710501	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	CA367703458	rs_1562957809	7 SubmittersRCV000760625 RCV002227495 RCV003224878
NM_012309.5(SHANK2):c.4906C>T (p.Arg1636Ter)	SNV Germline	Chr11:70485387	Conflicting classifications of pathogenicity	Condition: not provided Autism spectrum disorder Autism, susceptibility to, 17	Criteria Provided Conflicting Classifications	CA381679582	rs_1565526121	3 SubmittersRCV000760886 RCV001374606 RCV001028010
NM_015570.4(AUTS2):c.1600A>C (p.Thr534Pro)	SNV Germline	Chr7:70766245	Likely pathogenic	Corpus callosum, agenesis of Autism spectrum disorder due to AUTS2 deficiency Multiple congenital anomalies Congenital cerebellar hypoplasia	No Assertion Criteria Provided	CA367668931	rs_1563183469	2 SubmittersRCV000779651 RCV001257949
NM_003036.4(SKI):c.898C>T (p.Leu300Phe)	SNV Germline	Chr1:2229664	Conflicting classifications of pathogenicity	Shprintzen-Goldberg syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Autism spectrum disorder	Criteria Provided Conflicting Classifications	CA337956329	rs_1569660908	4 SubmittersRCV000803354 RCV001766666 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	CA367667436	rs_1585645641	2 SubmittersRCV000824999
NM_173569.4(UBN2):c.2024+1G>A	SNV Germline	Chr7:139276148	Likely pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter	CA369409542	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	CA7441505	rs_184647895	4 SubmittersRCV000964341 RCV001331289
NM_005909.5(MAP1B):c.3094G>T (p.Glu1032Ter)	SNV Germline	Chr5:72196449	Pathogenic; risk factor	Autism spectrum disorder White matter deficit Periventricular nodular heterotopia Cognitive impairment Hypoplasia of the corpus callosum Periventricular nodular heterotopia 9	No Assertion Criteria Provided	CA360009672	rs_1561315170	2 SubmittersRCV000984867 RCV001195717
NM_005909.5(MAP1B):c.4990C>T (p.Arg1664Ter)	SNV Germline	Chr5:72198345	Pathogenic/Likely pathogenic	Periventricular nodular heterotopia Cognitive impairment Hypoplasia of the corpus callosum Autism spectrum disorder White matter deficit Periventricular nodular heterotopia 9 Neurodevelopmental disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA360017711	rs_1580026238	4 SubmittersRCV000984868 RCV001195719 RCV001262715 RCV003326506
NM_004667.6(HERC2):c.4126C>T (p.Arg1376Ter)	SNV Germline	Chr15:28234162	Likely pathogenic	Developmental delay with autism spectrum disorder and gait instability Prader-Willi syndrome Developmental delay with autism spectrum disorder and gait instability	Criteria Provided Multiple Submitters No Conflicts	CA267913248	rs_575492335	2 SubmittersRCV000989279 RCV005359724
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	CA7443463	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	CA657895769	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	CA367668939	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 SMARCB1-related schwannomatosis Condition: not provided Autism spectrum disorder	Criteria Provided Conflicting Classifications	CA410935796	rs_1601405064	4 SubmittersRCV001024411 RCV001195823 RCV001365280 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	CA367667175	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	CA341316098	rs_1660027548	1 SubmittersRCV001070679
NM_015570.4(AUTS2):c.3416C>T (p.Pro1139Leu)	SNV Germline	Chr7:70790632	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Autism spectrum disorder due to AUTS2 deficiency	Criteria Provided Conflicting Classifications	CA4281333	rs_762069191	5 SubmittersRCV001093391 RCV003363105 RCV002480461
NM_021008.4(DEAF1):c.671G>A (p.Arg224Gln)	SNV Germline	Chr11:686991	Conflicting classifications of pathogenicity	Condition: not provided DEAF1-related disorder Intellectual disability-epilepsy-extrapyramidal syndrome Autism spectrum disorder	Criteria Provided Conflicting Classifications	CA378932923	rs_1415420832	5 SubmittersRCV003718379 RCV004528401 RCV001171489 RCV003127670
NM_012243.3(SLC35A3):c.724C>T (p.Arg242Ter)	SNV Germline	Chr1:100015391	Pathogenic/Likely pathogenic	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	Criteria Provided Multiple Submitters No Conflicts	CA341315906	rs_1660025629	2 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	CA9908635	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 Inborn genetic diseases Developmental and epileptic encephalopathy, 8	Criteria Provided Conflicting Classifications	CA413406032	rs_2050115619	3 SubmittersRCV001249523 RCV002447235 RCV001879754
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	CA408979595	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	CA412580746	rs_1922524280	1 SubmittersRCV001252599
NM_001032382.2(PQBP1):c.727C>T (p.Arg243Trp)	SNV Germline	ChrX:48903013	Likely pathogenic	Renpenning syndrome Autism spectrum disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA412891754	rs_2063451959	3 SubmittersRCV001255844 RCV003127736 RCV004697093
NM_002834.5(PTPN11):c.317A>G (p.Asp106Gly)	SNV Germline	Chr12:112450497	Likely pathogenic	Autism spectrum disorder Noonan syndrome	Criteria Provided Single Submitter	CA386778413	rs_397507517	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	CA166903776	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	CA408967460	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	CA408970954	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	CA408974740	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 Condition: not provided	Criteria Provided Single Submitter	CA408977698	rs_1981147033	2 SubmittersRCV001265358 RCV004719122
NM_001170629.2(CHD8):c.7258C>T (p.Arg2420Cys)	SNV Germline	Chr14:21386101	Conflicting classifications of pathogenicity	Autism spectrum disorder Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7090568	rs_371294659	4 SubmittersRCV001270821 RCV001655710 RCV002375319
NM_015570.4(AUTS2):c.1727G>A (p.Arg576Gln)	SNV Germline	Chr7:70768061	Conflicting classifications of pathogenicity	Autism spectrum disorder due to AUTS2 deficiency Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4280749	rs_773674679	3 SubmittersRCV001290369 RCV002538391 RCV005512980
NM_001042681.2(RERE):c.2278C>T (p.Gln760Ter)	SNV Germline	Chr1:8361229	Likely pathogenic	Autism spectrum disorder	No Assertion Criteria Provided	CA338172916	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	CA350385844	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	CA357562515	rs_1749810683	1 SubmittersRCV001291370
NM_001374828.1(ARID1B):c.2746C>T (p.Gln916Ter)	SNV Germline	Chr6:157133192	Pathogenic	Autism spectrum disorder Coffin-Siris syndrome 1	Criteria Provided Single Submitter	CA366388555	rs_1554301257	2 SubmittersRCV001291272 RCV004594267
NM_006766.5(KAT6A):c.1582C>T (p.Pro528Ser)	SNV Germline	Chr8:41955312	Likely pathogenic	Autism spectrum disorder	No Assertion Criteria Provided	CA371074520	rs_1822869930	1 SubmittersRCV001291382
NM_001032221.6(STXBP1):c.560C>T (p.Pro187Leu)	SNV Germline	Chr9:127663335	Pathogenic/Likely pathogenic	Developmental and epileptic encephalopathy Inborn genetic diseases Condition: not provided Autism spectrum disorder Developmental and epileptic encephalopathy, 4	Criteria Provided Multiple Submitters No Conflicts	CA374933242	rs_1841141204	7 SubmittersRCV001863164 RCV002350505 RCV003329397 RCV001291380 RCV002051934
NM_015338.6(ASXL1):c.1045C>T (p.Gln349Ter)	SNV Germline	Chr20:32432945	Likely pathogenic	Autism spectrum disorder	No Assertion Criteria Provided	CA408555374	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 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA394303367	rs_2084961841	4 SubmittersRCV001304127 RCV003127778 RCV003462870 RCV005512990
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	CA367702659	rs_1792258600	1 SubmittersRCV001336298
NM_022552.5(DNMT3A):c.1004A>G (p.Lys335Arg)	SNV Germline	Chr2:25247601	Pathogenic/Likely pathogenic	Neonatal hypotonia Tatton-Brown-Rahman overgrowth syndrome Autism spectrum disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA346074500	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	CA967545	rs_778502240	1 SubmittersRCV001384087
NM_012243.3(SLC35A3):c.201A>G (p.Arg67=)	SNV Germline	Chr1:99999274	Conflicting classifications of pathogenicity	Autism spectrum disorder - epilepsy - arthrogryposis syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA967543	rs_748968538	2 SubmittersRCV001419868 RCV004728716
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	CA367668957	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	CA367702657	rs_2129067294	1 SubmittersRCV001528177
NM_001330078.2(NRXN1):c.3430C>T (p.Arg1144Ter)	SNV Germline	Chr2:50236905	Pathogenic/Likely pathogenic	Condition: not provided Pitt-Hopkins-like syndrome 2 Autism spectrum disorder	Criteria Provided Multiple Submitters No Conflicts	CA346821011	rs_1282230077	3 SubmittersRCV001546634 RCV003619744 RCV003322895
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	CA9908573	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	CA65917009	rs_767240461	5 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	CA9908449	rs_559915015	5 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	CA9908625	rs_377051194	5 SubmittersRCV001732533 RCV002543902 RCV003136128 RCV003941114
NM_015570.4(AUTS2):c.1018C>T (p.Gln340Ter)	SNV Germline	Chr7:70763145	Pathogenic/Likely pathogenic	Autism spectrum disorder due to AUTS2 deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA367667671	rs_2129556993	2 SubmittersRCV003336430 RCV003238008
NM_001282531.3(ADNP):c.1540T>G (p.Cys514Gly)	SNV Germline	Chr20:50893174	Conflicting classifications of pathogenicity	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	Criteria Provided Conflicting Classifications	CA408973174	rs_2122752568	3 SubmittersRCV001771789
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	CA367703685	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	CA408969425	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	CA408970302	rs_2122743549	1 SubmittersRCV001823314
NM_012309.5(SHANK2):c.1924C>T (p.Arg642Ter)	SNV Germline	Chr11:70661608	Pathogenic/Likely pathogenic	Autism spectrum disorder Rare disease with autism Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA381957360	rs_2134275196	3 SubmittersRCV001825309 RCV002287509 RCV004591590
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	CA7443544	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	CA163293754	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	CA368546902	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	CA368542977	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	CA368545718	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	CA368540311	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 not specified	Criteria Provided Conflicting Classifications	CA266979472	rs_770451110	4 SubmittersRCV001957279 RCV002466275 RCV003126001 RCV004587257
NM_012243.3(SLC35A3):c.595G>T (p.Glu199Ter)	SNV Germline	Chr1:100011494	Pathogenic	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	Criteria Provided Single Submitter	CA341315243	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	CA395596705	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	CA967505	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	CA274888460	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	CA341317574	rs_1660258358	1 SubmittersRCV001914135
NM_022552.5(DNMT3A):c.1978T>C (p.Tyr660His)	SNV Germline	Chr2:25241666	Likely pathogenic	Autism spectrum disorder Tatton-Brown-Rahman overgrowth syndrome Condition: not provided Heyn-Sproul-Jackson syndrome Acute myeloid leukemia Tatton-Brown-Rahman overgrowth syndrome	Criteria Provided Multiple Submitters No Conflicts	CA346071360	rs_1674056899	3 SubmittersRCV002226414 RCV003238890 RCV005025733
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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9908848	rs_747105829	3 SubmittersRCV002227699 RCV003101299 RCV004617013
NM_012243.3(SLC35A3):c.-18-1G>T	SNV Germline	Chr1:99993536	Pathogenic	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	No Assertion Criteria Provided	CA341323204	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	CA408970802	rs_1221864735	1 SubmittersRCV002251122
NM_001282531.3(ADNP):c.2968G>A (p.Glu990Lys)	SNV Germline	Chr20:50891746	Conflicting classifications of pathogenicity	See cases Condition: not provided ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	Criteria Provided Conflicting Classifications	CA9908478	rs_531230573	3 SubmittersRCV002253187 RCV003094135 RCV005032200
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	CA4281240	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	CA391372026	rs_1224448657	1 SubmittersRCV002266820
NM_001040142.2(SCN2A):c.1157G>A (p.Trp386Ter)	SNV Germline	Chr2:165313742	Pathogenic	Autism spectrum disorder unclassified developmental and epileptic encephalopathy	No Assertion Criteria Provided	CA349021214	rs_1553568833	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	CA408970738	rs_2515579204	1 SubmittersRCV002289213
NM_001282531.3(ADNP):c.2815A>T (p.Ile939Phe)	SNV Germline	Chr20:50891899	Conflicting classifications of pathogenicity	Condition: not provided ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	Criteria Provided Conflicting Classifications	CA408967734	rs_201104498	2 SubmittersRCV002308755 RCV004725223
NM_031407.7(HUWE1):c.504+5G>A	SNV Germline	ChrX:53645306	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided Autism spectrum disorder	Criteria Provided Conflicting Classifications	CA10423104	rs_376896097	4 SubmittersRCV002351418 RCV003096583 RCV003126245
NM_000264.5(PTCH1):c.2266C>T (p.Leu756Phe)	SNV Germline	Chr9:95467410	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Gorlin syndrome Autism spectrum disorder not specified	Criteria Provided Conflicting Classifications	CA374114739	rs_1398517498	5 SubmittersRCV002443814 RCV003098764 RCV003126251 RCV003151408
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	CA9908781	rs_749861265	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	CA351425682	rs_1336350265	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	CA367668776	rs_2484682263	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	CA160015182	rs_973467545	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	CA408971569	rs_2515581500	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	CA367667914	rs_2484642297	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	CA384051222	rs_672601377	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	CA4729635	rs_139494583	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	CA4281298	rs_555021087	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	CA341315289	rs_2524558926	1 SubmittersRCV002900428
NM_001282531.3(ADNP):c.103A>G (p.Ile35Val)	SNV Germline	Chr20:50903894	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	Criteria Provided Conflicting Classifications	CA9908960	rs_372633654	3 SubmittersRCV002958000 RCV003340569 RCV004784080
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	CA338399377	rs_2523387278	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	CA341315981	rs_2524602549	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	CA4280300	rs_755851980	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	CA341326760	rs_2524432375	1 SubmittersRCV003017355
NM_001282531.3(ADNP):c.976C>G (p.His326Asp)	SNV Germline	Chr20:50893738	Conflicting classifications of pathogenicity	Condition: not provided ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	Criteria Provided Conflicting Classifications	CA408974864	rs_2515588341	2 SubmittersRCV003065931 RCV004725485
NM_015570.4(AUTS2):c.2791G>A (p.Glu931Lys)	SNV Germline	Chr7:70790007	Conflicting classifications of pathogenicity	Inborn genetic diseases Autism spectrum disorder due to AUTS2 deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA4281186	rs_749784668	3 SubmittersRCV002728932 RCV003143540 RCV005099600
NM_170606.3(KMT2C):c.13040C>T (p.Pro4347Leu)	SNV Germline	Chr7:152148887	Conflicting classifications of pathogenicity	Inborn genetic diseases Autism spectrum disorder	Criteria Provided Conflicting Classifications	CA169220924	rs_1019760354	2 SubmittersRCV002931063 RCV003126281
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	CA367662987	rs_1348011365	1 SubmittersRCV003123341
NM_001271.4(CHD2):c.3427T>G (p.Tyr1143Asp)	SNV Germline	Chr15:92991489	Conflicting classifications of pathogenicity	Autism spectrum disorder Developmental and epileptic encephalopathy 94	Criteria Provided Conflicting Classifications	CA393896065	rs_2505576939	2 SubmittersRCV003127236 RCV005099264
NM_001320.7(CSNK2B):c.72+1G>T	SNV Germline	Chr6:31666904	Likely pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter	CA363469917	rs_1801761541	1 SubmittersRCV003127240
NM_002397.5(MEF2C):c.301C>A (p.Pro101Thr)	SNV Germline	Chr5:88761286	Likely pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter	CA360424643	rs_2548168565	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	CA7353985	rs_773319640	2 SubmittersRCV003127280 RCV003643039
NM_001376.5(DYNC1H1):c.4396-1G>C	SNV Germline	Chr14:102001534	Likely pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter	CA391042251	rs_2503731165	1 SubmittersRCV003127281
NM_001161352.2(KCNMA1):c.1845C>G (p.Phe615Leu)	SNV Germline	Chr10:77039542	Likely pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter	CA377410016	rs_2551714172	1 SubmittersRCV003127290
NM_003797.5(EED):c.767T>C (p.Met256Thr)	SNV Germline	Chr11:86266123	Likely pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter	CA382004688	rs_2495862536	1 SubmittersRCV003127305
NM_001110792.2(MECP2):c.881A>G (p.Glu294Gly)	SNV Germline	ChrX:154030983	Likely pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter	CA415169881	rs_2522068996	1 SubmittersRCV003127312
NM_005215.4(DCC):c.617A>T (p.Asp206Val)	SNV Germline	Chr18:52906248	Likely pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter	CA402513892	rs_2511454945	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	CA411787862	rs_2518222528	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	CA360527972	rs_2480817986	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	CA1334004	rs_760186894	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	CA371065039	rs_2486754041	1 SubmittersRCV003127346
NM_014159.7(SETD2):c.5122C>T (p.Arg1708Ter)	SNV Germline	Chr3:47097975	Likely pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter	CA352511859	rs_774671060	1 SubmittersRCV003127362
NM_014704.4(CEP104):c.1241T>A (p.Leu414Ter)	SNV Germline	Chr1:3836571	Likely pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter	CA338041782	rs_2525448659	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	CA9384003	rs_754558144	2 SubmittersRCV003127374 RCV003699028
NM_015001.3(SPEN):c.7232C>A (p.Ser2411Ter)	SNV Germline	Chr1:15933472	Pathogenic/Likely pathogenic	Autism spectrum disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA338643453	rs_2071243064	2 SubmittersRCV003127378 RCV005060941
NM_015151.4(DIP2A):c.1429+2T>G	SNV Germline	Chr21:46533649	Likely pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter	CA410571326	rs_2059439923	1 SubmittersRCV003127387
NM_015570.4(AUTS2):c.2915A>T (p.Glu972Val)	SNV Germline	Chr7:70790131	Conflicting classifications of pathogenicity	Autism spectrum disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA367665090	rs_1791806791	2 SubmittersRCV003127398 RCV005099266
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	CA367667520	rs_2484637496	2 SubmittersRCV003127401 RCV003395701
NM_016604.4(KDM3B):c.3047-1G>A	SNV Germline	Chr5:138399859	Likely pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter	CA361080727	rs_2480236167	1 SubmittersRCV003127406
NM_018263.6(ASXL2):c.2326A>C (p.Thr776Pro)	SNV Germline	Chr2:25744011	Likely pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter	CA346081322	rs_1574390972	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	CA397934474	rs_2544705900	2 SubmittersRCV003127414 RCV003410264
NM_001375380.1(EBF3):c.232C>T (p.Gln78Ter)	SNV Germline	Chr10:129963426	Pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter	CA378911226	rs_2493681198	1 SubmittersRCV003127425
NM_021008.4(DEAF1):c.838A>G (p.Thr280Ala)	SNV Germline	Chr11:684930	Conflicting classifications of pathogenicity	Autism spectrum disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA378930035	rs_1207842035	2 SubmittersRCV003127437 RCV004978769
NM_022552.5(DNMT3A):c.745C>T (p.Gln249Ter)	SNV Germline	Chr2:25248147	Likely pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter	CA1556311	rs_759747476	1 SubmittersRCV003127441
NM_001375765.1(GIGYF1):c.3106T>G (p.Ter1036Gly)	SNV Germline	Chr7:100681721	Pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter	CA368523584	rs_1163941038	1 SubmittersRCV003127444
NM_030632.3(ASXL3):c.3737C>A (p.Ser1246Ter)	SNV Germline	Chr18:33743585	Pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter	CA402185990	rs_552703360	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	CA7036575	rs_755839325	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	CA367371934	rs_145586647	1 SubmittersRCV003128038
NM_001148.6(ANK2):c.9184G>T (p.Glu3062Ter)	SNV Germline	Chr4:113357802	Pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter	CA357936779	rs_2505933210	1 SubmittersRCV003128046
NM_001162501.2(TNRC6B):c.2641C>T (p.Gln881Ter)	SNV Germline	Chr22:40266871	Pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter	CA411637815	rs_2517988934	1 SubmittersRCV003128048
NM_014989.7(RIMS1):c.1679-20550G>A	SNV Germline	Chr6:72213223	Likely pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter	CA141421026	rs_560702162	1 SubmittersRCV003128056
NM_001170629.2(CHD8):c.3511C>T (p.Gln1171Ter)	SNV Germline	Chr14:21403460	Pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter	CA388900675	rs_1555314944	1 SubmittersRCV003128059
NM_001197104.2(KMT2A):c.10835+1G>A	SNV Germline	Chr11:118507610	Likely pathogenic	Autism spectrum disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA382827965	rs_141515578	2 SubmittersRCV003128060 RCV005622217
NM_015100.4(POGZ):c.1418A>G (p.Tyr473Cys)	SNV Germline	Chr1:151424054	Likely pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter	CA341971041	rs_2529438302	1 SubmittersRCV003128066
NM_015570.4(AUTS2):c.1527C>A (p.Asp509Glu)	SNV Germline	Chr7:70766172	Conflicting classifications of pathogenicity	Autism spectrum disorder due to AUTS2 deficiency	Criteria Provided Conflicting Classifications	CA367668770	rs_2484682116	2 SubmittersRCV003143694
NM_001282531.3(ADNP):c.613C>G (p.Leu205Val)	SNV Germline	Chr20:50894101	Conflicting classifications of pathogenicity	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9908858	rs_764614303	3 SubmittersRCV003141216 RCV003708729 RCV005554915
NM_015570.4(AUTS2):c.454C>T (p.Arg152Ter)	SNV Germline	Chr7:69899430	Pathogenic/Likely pathogenic	Autism spectrum disorder due to AUTS2 deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA367703631	rs_779089442	2 SubmittersRCV003153054 RCV004593222
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	CA367663472	rs_2484905470	1 SubmittersRCV003223549
NM_001282531.3(ADNP):c.2836A>G (p.Thr946Ala)	SNV Germline	Chr20:50891878	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	Criteria Provided Conflicting Classifications	CA9908510	rs_551485241	3 SubmittersRCV003738405 RCV003239460 RCV005029951
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	CA367668827	rs_773162178	1 SubmittersRCV003326212
NM_001282531.3(ADNP):c.2919G>T (p.Glu973Asp)	SNV Germline	Chr20:50891795	Conflicting classifications of pathogenicity	Condition: not provided ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	Criteria Provided Conflicting Classifications	CA408967500	rs_2515574625	2 SubmittersRCV003441309 RCV004723314
NM_012243.3(SLC35A3):c.811G>T (p.Gly271Ter)	SNV Germline	Chr1:100017739	Pathogenic	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	Criteria Provided Single Submitter	CA341317459	rs_2524628532	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	CA341315362	rs_1373513306	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	CA967540	rs_750883857	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	CA367664027	rs_1311127815	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	CA341329866	rs_2524514950	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	CA367669614	rs_2484761266	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	CA408969395	rs_2515578225	1 SubmittersRCV003991505
NM_001282531.3(ADNP):c.326G>A (p.Cys109Tyr)	SNV Germline	Chr20:50894388	Likely pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	Criteria Provided Single Submitter		rs_2515592600	1 SubmittersRCV004594815
NM_015570.4(AUTS2):c.1606C>T (p.Gln536Ter)	SNV Germline	Chr7:70766251	Likely pathogenic	Autism spectrum disorder due to AUTS2 deficiency	Criteria Provided Single Submitter			1 SubmittersRCV004596672
NM_004667.6(HERC2):c.592C>T (p.Arg198Ter)	SNV Unknown	Chr15:28274956	Likely pathogenic	Developmental delay with autism spectrum disorder and gait instability	Criteria Provided Single Submitter			1 SubmittersRCV004666676
NM_001375765.1(GIGYF1):c.2052+2T>C	SNV Germline	Chr7:100683548	Likely pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter			1 SubmittersRCV004789733
NM_015570.4(AUTS2):c.1214+1G>T	SNV Germline	Chr7:70763342	Likely pathogenic	Autism spectrum disorder due to AUTS2 deficiency	Criteria Provided Single Submitter			1 SubmittersRCV004795259
NM_004667.6(HERC2):c.12328G>A (p.Gly4110Arg)	SNV Germline	Chr15:28132733	Conflicting classifications of pathogenicity	Developmental delay with autism spectrum disorder and gait instability SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV004797185 RCV005235778
NM_012243.3(SLC35A3):c.887+1G>A	SNV Germline	Chr1:100017816	Likely pathogenic	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005046606
NM_015570.4(AUTS2):c.1051C>T (p.Gln351Ter)	SNV Germline	Chr7:70763178	Pathogenic	Autism spectrum disorder due to AUTS2 deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005048000
NM_015570.4(AUTS2):c.2005-1G>A	SNV Germline	Chr7:70781614	Likely pathogenic	Autism spectrum disorder due to AUTS2 deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005253605
NM_000834.5(GRIN2B):c.2141T>A (p.Val714Glu)	SNV Germline	Chr12:13571834	Likely pathogenic	Autism spectrum disorder	Criteria Provided Single Submitter			1 SubmittersRCV005413229
NM_001282531.3(ADNP):c.1707C>G (p.Tyr569Ter)	SNV Germline	Chr20:50893007	Pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	Criteria Provided Single Submitter			1 SubmittersRCV005603947

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

18 SubmittersRCV000003515 RCV000083663 RCV000288398 RCV003313913 RCV003944795

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

SNV
Germline

Chr4:148435252

Pathogenic

Autism spectrum disorder
Autosomal dominant pseudohypoaldosteronism type 1

Criteria Provided
Single Submitter

CA119730

rs_121912562

2 SubmittersRCV000754683 RCV000009086

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

SNV
Germline

Chr14:21403214

Pathogenic

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

Criteria Provided
Single Submitter

CA388900611

rs_1594344233

3 SubmittersRCV001555708 RCV000032828 RCV001291274

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

SNV
Germline

Chr15:66435145

Pathogenic

Condition: not provided
RASopathy
Cardiofaciocutaneous syndrome 3
Cardio-facio-cutaneous syndrome
Autism spectrum disorder
Cardio-facio-cutaneous syndrome
Noonan syndrome
MAP2K1-related RASopathy
Cardiovascular phenotype
Cardiofaciocutaneous syndrome 3
Melorheostosis
Cardiofaciocutaneous syndrome 1

Reviewed By Expert Panel

CA180743

rs_727504317

16 SubmittersRCV000212506 RCV000158004 RCV000192193 RCV000208771 RCV000754677 RCV000844673 RCV001095724 RCV002415455 RCV003224114 RCV004760352

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

SNV
Germline

Chr9:132925604

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA007386

rs_199620268

18 SubmittersRCV000055027 RCV000122184 RCV000055005 RCV000163292 RCV000372436 RCV000725839 RCV001080106 RCV003934997 RCV005394288

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

SNV
Germline

Chr16:2075885

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA017740

rs_397515077

9 SubmittersRCV000055380 RCV000189909 RCV000055315 RCV000562671 RCV000644061 RCV004998179

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
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
TSC2-related disorder
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA021670

rs_397515110

7 SubmittersRCV000055361 RCV000644174 RCV002336202 RCV003996478 RCV004537241 RCV005007983 RCV005054153

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

SNV
Germline

Chr16:2088134

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA021901

rs_201206500

6 SubmittersRCV000055435 RCV003162430 RCV000468508 RCV000572428 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
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA019782

rs_397515209

12 SubmittersRCV000055507 RCV000055604 RCV000190025 RCV000458400 RCV000571810 RCV001703964 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

8 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

11 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
ADNP-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA163346

rs_587777526

13 SubmittersRCV000128578 RCV000190684 RCV000483727 RCV004739427

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

5 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
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA301420

rs_786205755

4 SubmittersRCV000170794 RCV000465144 RCV003126565 RCV005404305

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

SNV
Germline

Chr6:157148764

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA203785

rs_794727977

7 SubmittersRCV000358610 RCV001291271 RCV001330749 RCV001533110

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

SNV
Germline

Chr5:88731773

Pathogenic

Autism spectrum disorder
Intellectual disability
5q14.3 microdeletion syndrome
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language

Criteria Provided
Multiple Submitters
No Conflicts

CA315931

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
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language

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

Criteria Provided
Conflicting Classifications

CA319427

rs_796053483

10 SubmittersRCV000189974 RCV003462292 RCV000754678 RCV000812345 RCV005016538 RCV002257481 RCV003996880

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

6 SubmittersRCV000203211 RCV000727185 RCV003147405

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

SNV
Germline

Chr9:137817477

Pathogenic

Kleefstra syndrome 1
Autism spectrum disorder

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
Multiple Submitters
No Conflicts

CA8941021

rs_750896617

4 SubmittersRCV000239542 RCV003313948

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

SNV
Germline

Chr3:25645353

Pathogenic

Autism spectrum disorder
Condition: not provided

Criteria Provided
Single Submitter

CA10588830

rs_886039770

2 SubmittersRCV000256202 RCV005090302

NM_174905.4(FAM98C):c.844C>T (p.Arg282Ter)

SNV
Germline

Chr19:38407003

Likely pathogenic

Asphyxiating thoracic dystrophy 3
Autism spectrum disorder

No Assertion Criteria Provided

CA9415017

rs_201037487

2 SubmittersRCV000256417 RCV003313949

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
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10602716

rs_886041116

22 SubmittersRCV000258940 RCV000414762 RCV000623455 RCV000497305

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
Inborn genetic diseases
ADNP-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10603669

rs_587777526

7 SubmittersRCV000404317 RCV001265359 RCV004975381 RCV004739651

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

SNV
Germline/somatic

Chr2:25243931

Conflicting classifications of pathogenicity

Tatton-Brown-Rahman overgrowth syndrome
Condition: not provided
Autism spectrum disorder
Tatton-Brown-Rahman overgrowth syndrome
Acute myeloid leukemia
Tatton-Brown-Rahman overgrowth syndrome
Heyn-Sproul-Jackson syndrome
Neoplasm
Inborn genetic diseases
DNMT3A-related disorder

Criteria Provided
Conflicting Classifications

CA1555830

rs_144689354

10 SubmittersRCV000367312 RCV000433567 RCV003313065 RCV003883148 RCV004668881 RCV005328235 RCV004745319

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

SNV
Germline

Chr2:44286074

Pathogenic

Cystinuria
Autism spectrum disorder
Condition: not provided
SLC3A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA1640281

rs_200483989

14 SubmittersRCV000332132 RCV003313951 RCV001723928 RCV004754396

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

5 SubmittersRCV000354546 RCV001261664 RCV003430934

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

SNV
Germline

Chr7:130401907

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4485523

rs_143303575

10 SubmittersRCV000483238 RCV001261666 RCV000878420 RCV001702359 RCV003922590 RCV005621939

NM_012309.5(SHANK2):c.396C>A (p.Gly132=)

SNV
Germline

Chr11:71118844

Conflicting classifications of pathogenicity

Autism spectrum disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6162137

rs_148065633

2 SubmittersRCV000339646 RCV005256591

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

3 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

4 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

3 SubmittersRCV000400062 RCV003401303

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

SNV
Germline

Chr11:71092563

Conflicting classifications of pathogenicity

Autism spectrum disorder
Condition: not provided
SHANK2-related disorder

Criteria Provided
Conflicting Classifications

CA6162070

rs_200821952

3 SubmittersRCV000298133 RCV003884455 RCV004537724

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

SNV
Germline

Chr11:71109952

Conflicting classifications of pathogenicity

Autism spectrum disorder
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6162108

rs_782210973

4 SubmittersRCV000328964 RCV003401302 RCV004955410

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

SNV
Germline

Chr11:71147191

Conflicting classifications of pathogenicity

Autism spectrum disorder
Inborn genetic diseases
Condition: not provided
Intellectual disability

Criteria Provided
Conflicting Classifications

CA6162175

rs_201642016

4 SubmittersRCV000311122 RCV002520759 RCV005411409 RCV005625530

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
Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA1555464

rs_149095705

5 SubmittersRCV000413992 RCV003233631 RCV004559047 RCV004725203

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.673C>T (p.Arg225Ter)

SNV
Germline

Chr20:50894041

Pathogenic/Likely pathogenic

Autism, severe
intellectual deficiency
Global developmental delay
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16043635

rs_1057518991

5 SubmittersRCV000414834 RCV001526556 RCV005252882 RCV003437160

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_014141.6(CNTNAP2):c.682G>A (p.Gly228Arg)

SNV
Germline

Chr7:147108278

Conflicting classifications of pathogenicity

Condition: not provided
Cortical dysplasia-focal epilepsy syndrome
Autism spectrum disorder
Intellectual disability
Epilepsy
Autism, susceptibility to, 15
Cortical dysplasia-focal epilepsy syndrome

Criteria Provided
Conflicting Classifications

CA4545862

rs_371512835

5 SubmittersRCV000483093 RCV001851204 RCV001553785 RCV005034019

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
Retinitis pigmentosa 79
Inborn genetic diseases
Retinitis pigmentosa
Hemolytic anemia due to hexokinase deficiency
Autism spectrum disorder
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA16618972

rs_1064794848

17 SubmittersRCV000483739 RCV000850128 RCV001254702 RCV001266687 RCV001270352 RCV001770372 RCV003126749 RCV004816693

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4280613

rs_767529359

5 SubmittersRCV000488170 RCV000626221 RCV003962354 RCV005286104

NM_015570.4(AUTS2):c.2693C>G (p.Ser898Trp)

SNV
Germline

Chr7:70789909

Conflicting classifications of pathogenicity

Condition: not provided
Autism spectrum disorder due to AUTS2 deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4281152

rs_534033649

3 SubmittersRCV000487530 RCV001250575 RCV004965498

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

4 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
HERC2-related disorder
Inborn genetic diseases
Developmental delay with autism spectrum disorder and gait instability

Criteria Provided
Conflicting Classifications

CA7441503

rs_146558015

4 SubmittersRCV000520647 RCV003962454 RCV002528277 RCV002289713

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

4 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

6 SubmittersRCV000579225 RCV000677402

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

SNV
Germline

Chr2:165342455

Pathogenic/Likely pathogenic

Condition: not provided
Seizures, benign familial infantile, 3
Developmental and epileptic encephalopathy, 11
See cases
Autism spectrum disorder
Episodic ataxia, type 9

Criteria Provided
Multiple Submitters
No Conflicts

CA349012892

rs_1553578503

6 SubmittersRCV000585495 RCV001055515 RCV002252172 RCV003126828 RCV004783819

NM_015570.4(AUTS2):c.1264A>G (p.Ile422Val)

SNV
Germline

Chr7:70764801

Conflicting classifications of pathogenicity

Condition: not provided
Autism spectrum disorder due to AUTS2 deficiency

Criteria Provided
Conflicting Classifications

CA4280609

rs_376584055

3 SubmittersRCV000584971 RCV005231136

NM_001282531.3(ADNP):c.1063G>A (p.Ala355Thr)

SNV
Germline

Chr20:50893651

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

CA9908790

rs_200625964

5 SubmittersRCV000597749 RCV002315891 RCV005027703 RCV003945402

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

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

Criteria Provided
Conflicting Classifications

CA341314931

rs_1553203137

3 SubmittersRCV000731886 RCV000651915

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

CA367667046

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

CA4280607

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

CA29588038

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

CA360424067

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

CA369926501

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

CA6345654

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

CA378933257

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

CA412218694

rs_1569513495

1 SubmittersRCV000754681

NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter)

SNV
Germline

Chr10:16940152

Pathogenic/Likely pathogenic

Imerslund-Grasbeck syndrome
Condition: not provided
Proteinuria, chronic benign
Imerslund-Grasbeck syndrome type 1
Autism spectrum disorder
CUBN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA5424004

rs_143944436

10 SubmittersRCV000705555 RCV001547777 RCV001536070 RCV003313972 RCV003918139

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

CA367668938

rs_1563183492

1 SubmittersRCV000708594

NM_001282531.3(ADNP):c.724G>A (p.Glu242Lys)

SNV
Germline

Chr20:50893990

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA408976434

rs_1568710507

3 SubmittersRCV004723134 RCV002318033 RCV005231305

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

CA9908901

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

CA408976348

rs_1568710501

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

CA367703458

rs_1562957809

7 SubmittersRCV000760625 RCV002227495 RCV003224878

NM_012309.5(SHANK2):c.4906C>T (p.Arg1636Ter)

SNV
Germline

Chr11:70485387

Conflicting classifications of pathogenicity

Condition: not provided
Autism spectrum disorder
Autism, susceptibility to, 17

Criteria Provided
Conflicting Classifications

CA381679582

rs_1565526121

3 SubmittersRCV000760886 RCV001374606 RCV001028010

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

SNV
Germline

Chr7:70766245

Likely pathogenic

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

No Assertion Criteria Provided

CA367668931

rs_1563183469

2 SubmittersRCV000779651 RCV001257949

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

SNV
Germline

Chr1:2229664

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA337956329

rs_1569660908

4 SubmittersRCV000803354 RCV001766666 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

CA367667436

rs_1585645641

2 SubmittersRCV000824999

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

SNV
Germline

Chr7:139276148

Likely pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

CA369409542

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

CA7441505

rs_184647895

4 SubmittersRCV000964341 RCV001331289

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

SNV
Germline

Chr5:72196449

Pathogenic; risk factor

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

No Assertion Criteria Provided

CA360009672

rs_1561315170

2 SubmittersRCV000984867 RCV001195717

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

SNV
Germline

Chr5:72198345

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA360017711

rs_1580026238

4 SubmittersRCV000984868 RCV001195719 RCV001262715 RCV003326506

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

SNV
Germline

Chr15:28234162

Likely pathogenic

Developmental delay with autism spectrum disorder and gait instability
Prader-Willi syndrome
Developmental delay with autism spectrum disorder and gait instability

Criteria Provided
Multiple Submitters
No Conflicts

CA267913248

rs_575492335

2 SubmittersRCV000989279 RCV005359724

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

CA7443463

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

CA657895769

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

CA367668939

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
SMARCB1-related schwannomatosis
Condition: not provided
Autism spectrum disorder

Criteria Provided
Conflicting Classifications

CA410935796

rs_1601405064

4 SubmittersRCV001024411 RCV001195823 RCV001365280 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

CA367667175

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

CA341316098

rs_1660027548

1 SubmittersRCV001070679

NM_015570.4(AUTS2):c.3416C>T (p.Pro1139Leu)

SNV
Germline

Chr7:70790632

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Autism spectrum disorder due to AUTS2 deficiency

Criteria Provided
Conflicting Classifications

CA4281333

rs_762069191

5 SubmittersRCV001093391 RCV003363105 RCV002480461

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

SNV
Germline

Chr11:686991

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA378932923

rs_1415420832

5 SubmittersRCV003718379 RCV004528401 RCV001171489 RCV003127670

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

SNV
Germline

Chr1:100015391

Pathogenic/Likely pathogenic

Autism spectrum disorder - epilepsy - arthrogryposis syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA341315906

rs_1660025629

2 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

CA9908635

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
Inborn genetic diseases
Developmental and epileptic encephalopathy, 8

Criteria Provided
Conflicting Classifications

CA413406032

rs_2050115619

3 SubmittersRCV001249523 RCV002447235 RCV001879754

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

CA408979595

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

CA412580746

rs_1922524280

1 SubmittersRCV001252599

NM_001032382.2(PQBP1):c.727C>T (p.Arg243Trp)

SNV
Germline

ChrX:48903013

Likely pathogenic

Renpenning syndrome
Autism spectrum disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA412891754

rs_2063451959

3 SubmittersRCV001255844 RCV003127736 RCV004697093

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

SNV
Germline

Chr12:112450497

Likely pathogenic

Autism spectrum disorder
Noonan syndrome

Criteria Provided
Single Submitter

CA386778413

rs_397507517

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

CA166903776

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

CA408967460

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

CA408970954

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

CA408974740

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
Condition: not provided

Criteria Provided
Single Submitter

CA408977698

rs_1981147033

2 SubmittersRCV001265358 RCV004719122

NM_001170629.2(CHD8):c.7258C>T (p.Arg2420Cys)

SNV
Germline

Chr14:21386101

Conflicting classifications of pathogenicity

Autism spectrum disorder
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7090568

rs_371294659

4 SubmittersRCV001270821 RCV001655710 RCV002375319

NM_015570.4(AUTS2):c.1727G>A (p.Arg576Gln)

SNV
Germline

Chr7:70768061

Conflicting classifications of pathogenicity

Autism spectrum disorder due to AUTS2 deficiency
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4280749

rs_773674679

3 SubmittersRCV001290369 RCV002538391 RCV005512980

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

SNV
Germline

Chr1:8361229

Likely pathogenic

Autism spectrum disorder

No Assertion Criteria Provided

CA338172916

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

CA350385844

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

CA357562515

rs_1749810683

1 SubmittersRCV001291370

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

SNV
Germline

Chr6:157133192

Pathogenic

Autism spectrum disorder
Coffin-Siris syndrome 1

Criteria Provided
Single Submitter

CA366388555

rs_1554301257

2 SubmittersRCV001291272 RCV004594267

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

SNV
Germline

Chr8:41955312

Likely pathogenic

Autism spectrum disorder

No Assertion Criteria Provided

CA371074520

rs_1822869930

1 SubmittersRCV001291382

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

SNV
Germline

Chr9:127663335

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy
Inborn genetic diseases
Condition: not provided
Autism spectrum disorder
Developmental and epileptic encephalopathy, 4

Criteria Provided
Multiple Submitters
No Conflicts

CA374933242

rs_1841141204

7 SubmittersRCV001863164 RCV002350505 RCV003329397 RCV001291380 RCV002051934

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

SNV
Germline

Chr20:32432945

Likely pathogenic

Autism spectrum disorder

No Assertion Criteria Provided

CA408555374

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
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394303367

rs_2084961841

4 SubmittersRCV001304127 RCV003127778 RCV003462870 RCV005512990

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

CA367702659

rs_1792258600

1 SubmittersRCV001336298

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

SNV
Germline

Chr2:25247601

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA346074500

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

CA967545

rs_778502240

1 SubmittersRCV001384087

NM_012243.3(SLC35A3):c.201A>G (p.Arg67=)

SNV
Germline

Chr1:99999274

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA967543

rs_748968538

2 SubmittersRCV001419868 RCV004728716

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

CA367668957

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

CA367702657

rs_2129067294

1 SubmittersRCV001528177

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

SNV
Germline

Chr2:50236905

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA346821011

rs_1282230077

3 SubmittersRCV001546634 RCV003619744 RCV003322895

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

CA9908573

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

CA65917009

rs_767240461

5 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

CA9908449

rs_559915015

5 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

CA9908625

rs_377051194

5 SubmittersRCV001732533 RCV002543902 RCV003136128 RCV003941114

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

SNV
Germline

Chr7:70763145

Pathogenic/Likely pathogenic

Autism spectrum disorder due to AUTS2 deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA367667671

rs_2129556993

2 SubmittersRCV003336430 RCV003238008

NM_001282531.3(ADNP):c.1540T>G (p.Cys514Gly)

SNV
Germline

Chr20:50893174

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA408973174

rs_2122752568

3 SubmittersRCV001771789

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

CA367703685

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

CA408969425

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

CA408970302

rs_2122743549

1 SubmittersRCV001823314

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

SNV
Germline

Chr11:70661608

Pathogenic/Likely pathogenic

Autism spectrum disorder
Rare disease with autism
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA381957360

rs_2134275196

3 SubmittersRCV001825309 RCV002287509 RCV004591590

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

CA7443544

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

CA163293754

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

CA368546902

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

CA368542977

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

CA368545718

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

CA368540311

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
not specified

Criteria Provided
Conflicting Classifications

CA266979472

rs_770451110

4 SubmittersRCV001957279 RCV002466275 RCV003126001 RCV004587257

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

SNV
Germline

Chr1:100011494

Pathogenic

Autism spectrum disorder - epilepsy - arthrogryposis syndrome

Criteria Provided
Single Submitter

CA341315243

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

CA395596705

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

CA967505

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

CA274888460

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

CA341317574

rs_1660258358

1 SubmittersRCV001914135

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

SNV
Germline

Chr2:25241666

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA346071360

rs_1674056899

3 SubmittersRCV002226414 RCV003238890 RCV005025733

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9908848

rs_747105829

3 SubmittersRCV002227699 RCV003101299 RCV004617013

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

SNV
Germline

Chr1:99993536

Pathogenic

Autism spectrum disorder - epilepsy - arthrogryposis syndrome

No Assertion Criteria Provided

CA341323204

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

CA408970802

rs_1221864735

1 SubmittersRCV002251122

NM_001282531.3(ADNP):c.2968G>A (p.Glu990Lys)

SNV
Germline

Chr20:50891746

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9908478

rs_531230573

3 SubmittersRCV002253187 RCV003094135 RCV005032200

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

CA4281240

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

CA391372026

rs_1224448657

1 SubmittersRCV002266820

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

SNV
Germline

Chr2:165313742

Pathogenic

Autism spectrum disorder
unclassified developmental and epileptic encephalopathy

No Assertion Criteria Provided

CA349021214

rs_1553568833

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

CA408970738

rs_2515579204

1 SubmittersRCV002289213

NM_001282531.3(ADNP):c.2815A>T (p.Ile939Phe)

SNV
Germline

Chr20:50891899

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA408967734

rs_201104498

2 SubmittersRCV002308755 RCV004725223

NM_031407.7(HUWE1):c.504+5G>A

SNV
Germline

ChrX:53645306

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
Autism spectrum disorder

Criteria Provided
Conflicting Classifications

CA10423104

rs_376896097

4 SubmittersRCV002351418 RCV003096583 RCV003126245

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

SNV
Germline

Chr9:95467410

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA374114739

rs_1398517498

5 SubmittersRCV002443814 RCV003098764 RCV003126251 RCV003151408

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

CA9908781

rs_749861265

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

CA351425682

rs_1336350265

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

CA367668776

rs_2484682263

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

CA160015182

rs_973467545

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

CA408971569

rs_2515581500

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

CA367667914

rs_2484642297

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

CA384051222

rs_672601377

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

CA4729635

rs_139494583

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

CA4281298

rs_555021087

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

CA341315289

rs_2524558926

1 SubmittersRCV002900428

NM_001282531.3(ADNP):c.103A>G (p.Ile35Val)

SNV
Germline

Chr20:50903894

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9908960

rs_372633654

3 SubmittersRCV002958000 RCV003340569 RCV004784080

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

CA338399377

rs_2523387278

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

CA341315981

rs_2524602549

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

CA4280300

rs_755851980

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

CA341326760

rs_2524432375

1 SubmittersRCV003017355

NM_001282531.3(ADNP):c.976C>G (p.His326Asp)

SNV
Germline

Chr20:50893738

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA408974864

rs_2515588341

2 SubmittersRCV003065931 RCV004725485

NM_015570.4(AUTS2):c.2791G>A (p.Glu931Lys)

SNV
Germline

Chr7:70790007

Conflicting classifications of pathogenicity

Inborn genetic diseases
Autism spectrum disorder due to AUTS2 deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4281186

rs_749784668

3 SubmittersRCV002728932 RCV003143540 RCV005099600

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

SNV
Germline

Chr7:152148887

Conflicting classifications of pathogenicity

Inborn genetic diseases
Autism spectrum disorder

Criteria Provided
Conflicting Classifications

CA169220924

rs_1019760354

2 SubmittersRCV002931063 RCV003126281

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

CA367662987

rs_1348011365

1 SubmittersRCV003123341

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

SNV
Germline

Chr15:92991489

Conflicting classifications of pathogenicity

Autism spectrum disorder
Developmental and epileptic encephalopathy 94

Criteria Provided
Conflicting Classifications

CA393896065

rs_2505576939

2 SubmittersRCV003127236 RCV005099264

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

SNV
Germline

Chr6:31666904

Likely pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

CA363469917

rs_1801761541

1 SubmittersRCV003127240

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

SNV
Germline

Chr5:88761286

Likely pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

CA360424643

rs_2548168565

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

CA7353985

rs_773319640

2 SubmittersRCV003127280 RCV003643039

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

SNV
Germline

Chr14:102001534

Likely pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

CA391042251

rs_2503731165

1 SubmittersRCV003127281

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

SNV
Germline

Chr10:77039542

Likely pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

CA377410016

rs_2551714172

1 SubmittersRCV003127290

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

SNV
Germline

Chr11:86266123

Likely pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

CA382004688

rs_2495862536

1 SubmittersRCV003127305

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

SNV
Germline

ChrX:154030983

Likely pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

CA415169881

rs_2522068996

1 SubmittersRCV003127312

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

SNV
Germline

Chr18:52906248

Likely pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

CA402513892

rs_2511454945

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

CA411787862

rs_2518222528

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

CA360527972

rs_2480817986

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

CA1334004

rs_760186894

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

CA371065039

rs_2486754041

1 SubmittersRCV003127346

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

SNV
Germline

Chr3:47097975

Likely pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

CA352511859

rs_774671060

1 SubmittersRCV003127362

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

SNV
Germline

Chr1:3836571

Likely pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

CA338041782

rs_2525448659

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

CA9384003

rs_754558144

2 SubmittersRCV003127374 RCV003699028

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

SNV
Germline

Chr1:15933472

Pathogenic/Likely pathogenic

Autism spectrum disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA338643453

rs_2071243064

2 SubmittersRCV003127378 RCV005060941

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

SNV
Germline

Chr21:46533649

Likely pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

CA410571326

rs_2059439923

1 SubmittersRCV003127387

NM_015570.4(AUTS2):c.2915A>T (p.Glu972Val)

SNV
Germline

Chr7:70790131

Conflicting classifications of pathogenicity

Autism spectrum disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA367665090

rs_1791806791

2 SubmittersRCV003127398 RCV005099266

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

CA367667520

rs_2484637496

2 SubmittersRCV003127401 RCV003395701

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

SNV
Germline

Chr5:138399859

Likely pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

CA361080727

rs_2480236167

1 SubmittersRCV003127406

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

SNV
Germline

Chr2:25744011

Likely pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

CA346081322

rs_1574390972

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

CA397934474

rs_2544705900

2 SubmittersRCV003127414 RCV003410264

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

SNV
Germline

Chr10:129963426

Pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

CA378911226

rs_2493681198

1 SubmittersRCV003127425

NM_021008.4(DEAF1):c.838A>G (p.Thr280Ala)

SNV
Germline

Chr11:684930

Conflicting classifications of pathogenicity

Autism spectrum disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA378930035

rs_1207842035

2 SubmittersRCV003127437 RCV004978769

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

SNV
Germline

Chr2:25248147

Likely pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

CA1556311

rs_759747476

1 SubmittersRCV003127441

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

SNV
Germline

Chr7:100681721

Pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

CA368523584

rs_1163941038

1 SubmittersRCV003127444

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

SNV
Germline

Chr18:33743585

Pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

CA402185990

rs_552703360

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

CA7036575

rs_755839325

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

CA367371934

rs_145586647

1 SubmittersRCV003128038

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

SNV
Germline

Chr4:113357802

Pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

CA357936779

rs_2505933210

1 SubmittersRCV003128046

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

SNV
Germline

Chr22:40266871

Pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

CA411637815

rs_2517988934

1 SubmittersRCV003128048

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

SNV
Germline

Chr6:72213223

Likely pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

CA141421026

rs_560702162

1 SubmittersRCV003128056

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

SNV
Germline

Chr14:21403460

Pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

CA388900675

rs_1555314944

1 SubmittersRCV003128059

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

SNV
Germline

Chr11:118507610

Likely pathogenic

Autism spectrum disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA382827965

rs_141515578

2 SubmittersRCV003128060 RCV005622217

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

SNV
Germline

Chr1:151424054

Likely pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

CA341971041

rs_2529438302

1 SubmittersRCV003128066

NM_015570.4(AUTS2):c.1527C>A (p.Asp509Glu)

SNV
Germline

Chr7:70766172

Conflicting classifications of pathogenicity

Autism spectrum disorder due to AUTS2 deficiency

Criteria Provided
Conflicting Classifications

CA367668770

rs_2484682116

2 SubmittersRCV003143694

NM_001282531.3(ADNP):c.613C>G (p.Leu205Val)

SNV
Germline

Chr20:50894101

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9908858

rs_764614303

3 SubmittersRCV003141216 RCV003708729 RCV005554915

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

SNV
Germline

Chr7:69899430

Pathogenic/Likely pathogenic

Autism spectrum disorder due to AUTS2 deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA367703631

rs_779089442

2 SubmittersRCV003153054 RCV004593222

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

CA367663472

rs_2484905470

1 SubmittersRCV003223549

NM_001282531.3(ADNP):c.2836A>G (p.Thr946Ala)

SNV
Germline

Chr20:50891878

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9908510

rs_551485241

3 SubmittersRCV003738405 RCV003239460 RCV005029951

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

CA367668827

rs_773162178

1 SubmittersRCV003326212

NM_001282531.3(ADNP):c.2919G>T (p.Glu973Asp)

SNV
Germline

Chr20:50891795

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA408967500

rs_2515574625

2 SubmittersRCV003441309 RCV004723314

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

SNV
Germline

Chr1:100017739

Pathogenic

Autism spectrum disorder - epilepsy - arthrogryposis syndrome

Criteria Provided
Single Submitter

CA341317459

rs_2524628532

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

CA341315362

rs_1373513306

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

CA967540

rs_750883857

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

CA367664027

rs_1311127815

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

CA341329866

rs_2524514950

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

CA367669614

rs_2484761266

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

CA408969395

rs_2515578225

1 SubmittersRCV003991505

NM_001282531.3(ADNP):c.326G>A (p.Cys109Tyr)

SNV
Germline

Chr20:50894388

Likely pathogenic

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

Criteria Provided
Single Submitter

rs_2515592600

1 SubmittersRCV004594815

NM_015570.4(AUTS2):c.1606C>T (p.Gln536Ter)

SNV
Germline

Chr7:70766251

Likely pathogenic

Autism spectrum disorder due to AUTS2 deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV004596672

NM_004667.6(HERC2):c.592C>T (p.Arg198Ter)

SNV
Unknown

Chr15:28274956

Likely pathogenic

Developmental delay with autism spectrum disorder and gait instability

Criteria Provided
Single Submitter

1 SubmittersRCV004666676

NM_001375765.1(GIGYF1):c.2052+2T>C

SNV
Germline

Chr7:100683548

Likely pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

1 SubmittersRCV004789733

NM_015570.4(AUTS2):c.1214+1G>T

SNV
Germline

Chr7:70763342

Likely pathogenic

Autism spectrum disorder due to AUTS2 deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV004795259

NM_004667.6(HERC2):c.12328G>A (p.Gly4110Arg)

SNV
Germline

Chr15:28132733

Conflicting classifications of pathogenicity

Developmental delay with autism spectrum disorder and gait instability
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004797185 RCV005235778

NM_012243.3(SLC35A3):c.887+1G>A

SNV
Germline

Chr1:100017816

Likely pathogenic

Autism spectrum disorder - epilepsy - arthrogryposis syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005046606

NM_015570.4(AUTS2):c.1051C>T (p.Gln351Ter)

SNV
Germline

Chr7:70763178

Pathogenic

Autism spectrum disorder due to AUTS2 deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005048000

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

SNV
Germline

Chr7:70781614

Likely pathogenic

Autism spectrum disorder due to AUTS2 deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005253605

NM_000834.5(GRIN2B):c.2141T>A (p.Val714Glu)

SNV
Germline

Chr12:13571834

Likely pathogenic

Autism spectrum disorder

Criteria Provided
Single Submitter

1 SubmittersRCV005413229

NM_001282531.3(ADNP):c.1707C>G (p.Tyr569Ter)

SNV
Germline

Chr20:50893007

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005603947