SHANK2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153941	GRCh38/hg38 11q13.2-13.4(chr11:68031693-71593495)x1	LOC130006238, LOC130006239 +184 more	Copy number loss	See cases	GLikely pathogenic
Select item 305881	NM_012309.5(SHANK2):c.*4377A>T	SHANK2	Single nucleotide variant (3 prime UTR variant +1 more)	Autism spectrum disorder	GLikely benign
Select item 305882	NM_012309.5(SHANK2):c.*4102C>G	SHANK2	Single nucleotide variant (3 prime UTR variant +1 more)	Autism spectrum disorder	GLikely benign
Select item 305883	NM_012309.5(SHANK2):c.*4029A>C	SHANK2	Single nucleotide variant (3 prime UTR variant +1 more)	Autism spectrum disorder	GUncertain significance
Select item 305884	NM_012309.5(SHANK2):c.*3947C>G	SHANK2	Single nucleotide variant (3 prime UTR variant +1 more)	Autism spectrum disorder	GUncertain significance
Select item 305885	NM_012309.5(SHANK2):c.*3475C>G	SHANK2	Single nucleotide variant (3 prime UTR variant +1 more)	Autism spectrum disorder	GUncertain significance
Select item 305886	NM_012309.5(SHANK2):c.*3246G>A	SHANK2	Single nucleotide variant (3 prime UTR variant +1 more)	Autism spectrum disorder	GUncertain significance
Select item 305887	NM_012309.5(SHANK2):c.*3245T>C	SHANK2	Single nucleotide variant (3 prime UTR variant +1 more)	Autism spectrum disorder	GUncertain significance
Select item 305888	NM_012309.5(SHANK2):c.*3067A>G	SHANK2	Single nucleotide variant (3 prime UTR variant +1 more)	Autism spectrum disorder	GUncertain significance
Select item 305889	NM_012309.5(SHANK2):c.*2583T>C	LOC130006303, SHANK2	Single nucleotide variant (3 prime UTR variant +1 more)	Autism spectrum disorder	GLikely benign
Select item 305890	NM_012309.5(SHANK2):c.*1597T>G	SHANK2	Single nucleotide variant (3 prime UTR variant +1 more)	Autism spectrum disorder	GLikely benign
Select item 305891	NM_012309.5(SHANK2):c.*1545T>G	SHANK2	Single nucleotide variant (3 prime UTR variant +1 more)	Autism spectrum disorder	GUncertain significance
Select item 305892	NM_012309.5(SHANK2):c.*1533dup	SHANK2	Duplication (3 prime UTR variant +1 more)	Autism spectrum disorder +1 more	GConflicting classifications of pathogenicity
Select item 305893	NM_012309.5(SHANK2):c.*1022T>C	SHANK2	Single nucleotide variant (3 prime UTR variant +1 more)	Autism spectrum disorder	GUncertain significance
Select item 305894	NM_012309.5(SHANK2):c.*591C>A	SHANK2	Single nucleotide variant (3 prime UTR variant +1 more)	Autism spectrum disorder	GUncertain significance
Select item 305895	NM_012309.5(SHANK2):c.*585C>T	SHANK2	Single nucleotide variant (3 prime UTR variant +1 more)	Autism spectrum disorder	GUncertain significance
Select item 130305	NM_012309.5(SHANK2):c.5494C>T (p.Arg1832Ter)	SHANK2 (R1244* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 212172	NM_012309.5(SHANK2):c.5475C>T (p.Leu1825=)	SHANK2	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2271782	NM_012309.5(SHANK2):c.5471dup (p.Asp1824fs)	SHANK2 (D1445fs +2 more)	Duplication (frameshift variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1338277	NM_012309.5(SHANK2):c.5449_5452del (p.Leu1817fs)	SHANK2 (L1229fs +2 more)	Deletion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 2642068	NM_012309.5(SHANK2):c.5436C>T (p.Ile1812=)	SHANK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1336155	NM_012309.5(SHANK2):c.5376C>T (p.Ala1792=)	SHANK2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1336482	NM_012309.5(SHANK2):c.5317A>G (p.Ile1773Val)	SHANK2 (I1185V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3025398	NM_012309.5(SHANK2):c.5274G>A (p.Ala1758=)	SHANK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2642069	NM_012309.5(SHANK2):c.5273C>T (p.Ala1758Val)	SHANK2 (A1170V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2663437	NM_012309.5(SHANK2):c.5248G>A (p.Gly1750Arg)	SHANK2 (G1162R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3044938	NM_012309.5(SHANK2):c.5241C>T (p.Pro1747=)	SHANK2	Single nucleotide variant (synonymous variant +1 more)	SHANK2-related condition	GLikely benign
Select item 2628517	NM_012309.5(SHANK2):c.5225G>T (p.Ser1742Ile)	SHANK2 (S1154I +2 more)	Single nucleotide variant (missense variant +1 more)	SHANK2-related condition	GUncertain significance
Select item 2672475	NM_012309.5(SHANK2):c.5185G>A (p.Ala1729Thr)	SHANK2 (A1141T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1803070	NM_012309.5(SHANK2):c.5176_5177del (p.Leu1726fs)	SHANK2 (L1138fs +2 more)	Deletion (frameshift variant +1 more)	Autism, susceptibility to, 17	GLikely pathogenic
Select item 2642070	NM_012309.5(SHANK2):c.5175C>G (p.Pro1725=)	SHANK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 212170	NM_012309.5(SHANK2):c.5151G>A (p.Met1717Ile)	SHANK2 (M1129I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 3044250	NM_012309.5(SHANK2):c.5079G>A (p.Arg1693=)	SHANK2	Single nucleotide variant (synonymous variant +1 more)	SHANK2-related condition	GLikely benign
Select item 723526	NM_012309.5(SHANK2):c.5025G>A (p.Thr1675=)	SHANK2	Single nucleotide variant (synonymous variant +1 more)	Autism, susceptibility to, 17 +1 more	GBenign/Likely benign
Select item 212169	NM_012309.5(SHANK2):c.5021C>T (p.Thr1674Met)	SHANK2 (T1086M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 2642071	NM_012309.5(SHANK2):c.5014C>G (p.Arg1672Gly)	SHANK2 (R1084G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1701173	NM_012309.5(SHANK2):c.5008_5010delinsTGGA (p.Gly1670fs)	SHANK2 (G1082fs +2 more)	Indel (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2421905	NM_012309.5(SHANK2):c.4994T>C (p.Met1665Thr)	SHANK2 (M1077T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 212168	NM_012309.5(SHANK2):c.4991T>C (p.Ile1664Thr)	SHANK2 (I1076T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 1690890	NM_012309.5(SHANK2):c.4985_4986del (p.Pro1662fs)	SHANK2 (P1074fs +2 more)	Deletion (frameshift variant +1 more)	See cases	GLikely pathogenic
Select item 385923	NM_012309.5(SHANK2):c.4986G>A (p.Pro1662=)	SHANK2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2642072	NM_012309.5(SHANK2):c.4980-3756C>A	SHANK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 916149	NM_012309.5(SHANK2):c.4979+5G>C	SHANK2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1698936	NM_012309.5(SHANK2):c.4930G>T (p.Glu1644Ter)	SHANK2 (E1056* +2 more)	Single nucleotide variant (nonsense)	Global developmental delay	GPathogenic
Select item 212167	NM_012309.5(SHANK2):c.4926G>A (p.Pro1642=)	SHANK2	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1330228	NM_012309.5(SHANK2):c.4925C>T (p.Pro1642Leu)	SHANK2 (P1054L +2 more)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 17	GUncertain significance
Select item 620503	NM_012309.5(SHANK2):c.4906C>T (p.Arg1636Ter)	SHANK2 (R1636* +2 more)	Single nucleotide variant (nonsense)	Autism spectrum disorder +1 more	GUncertain significance
Select item 2642073	NM_012309.5(SHANK2):c.4847T>C (p.Leu1616Pro)	SHANK2 (L1028P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 436712	NM_012309.5(SHANK2):c.4822G>A (p.Val1608Ile)	SHANK2 (V1020I +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 754458	NM_012309.5(SHANK2):c.4793A>G (p.Gln1598Arg)	SHANK2 (Q1010R +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2350589	NM_012309.5(SHANK2):c.4780G>A (p.Ala1594Thr)	SHANK2 (A1006T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 957272	NM_012309.5(SHANK2):c.4740_4757del (p.Ala1581_Pro1586del)	SHANK2	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 546682	NM_012309.5(SHANK2):c.4746CCCGCC[1] (p.Pro1585_Pro1586del)	SHANK2	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 436713	NM_012309.5(SHANK2):c.4757C>T (p.Pro1586Leu)	SHANK2 (P1586L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1708216	NM_012309.5(SHANK2):c.4749_4753del (p.Pro1584fs)	SHANK2 (P1205fs +2 more)	Deletion (frameshift variant)	Rare disease with autism	GPathogenic
Select item 2672476	NM_012309.5(SHANK2):c.4697C>T (p.Ala1566Val)	SHANK2 (A1187V +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2230352	NM_012309.5(SHANK2):c.4696G>A (p.Ala1566Thr)	SHANK2 (A1187T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 305898	NM_012309.5(SHANK2):c.4676G>A (p.Ser1559Asn)	SHANK2 (S1559N +2 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GUncertain significance
Select item 1805933	NM_012309.5(SHANK2):c.4635_4636delinsTAT (p.Val1546fs)	SHANK2 (V1167fs +2 more)	Indel (frameshift variant)	Autism, susceptibility to, 17	GPathogenic
Select item 2775433	NM_012309.5(SHANK2):c.4604del (p.Asp1535fs)	SHANK2 (D1535fs +2 more)	Deletion (frameshift variant)	Autism, susceptibility to, 17	GPathogenic
Select item 585115	NM_012309.5(SHANK2):c.4592_4593del (p.Thr1531fs)	SHANK2 (T1531fs +2 more)	Microsatellite (frameshift variant)	Autism spectrum disorder +2 more	Gnot provided
Select item 3039526	NM_012309.5(SHANK2):c.4562C>T (p.Ser1521Phe)	SHANK2 (S1142F +2 more)	Single nucleotide variant (missense variant)	SHANK2-related condition	GLikely benign
Select item 2662890	NM_012309.5(SHANK2):c.4547T>A (p.Ile1516Asn)	SHANK2 (I1137N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1336668	NM_012309.5(SHANK2):c.4518G>A (p.Thr1506=)	SHANK2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 738947	NM_012309.5(SHANK2):c.4482G>A (p.Val1494=)	SHANK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 130304	NM_012309.5(SHANK2):c.4461C>T (p.Ala1487=)	SHANK2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1334055	NM_012309.5(SHANK2):c.4456G>A (p.Val1486Ile)	SHANK2 (V1107I +2 more)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 17	GUncertain significance
Select item 1335078	NM_012309.5(SHANK2):c.4446_4447dup (p.Phe1483fs)	SHANK2 (F1104fs +2 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2642074	NM_012309.5(SHANK2):c.4438C>A (p.Pro1480Thr)	SHANK2 (P1101T +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1498547	NM_012309.5(SHANK2):c.4430T>G (p.Leu1477Arg)	SHANK2 (L1098R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 806712	NM_012309.5(SHANK2):c.4383C>A (p.Asp1461Glu)	SHANK2 (D1461E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663597	NM_012309.5(SHANK2):c.4346C>T (p.Pro1449Leu)	SHANK2 (P1070L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2230443	NM_012309.5(SHANK2):c.4337C>T (p.Pro1446Leu)	SHANK2 (P858L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3038152	NM_012309.5(SHANK2):c.4323G>A (p.Lys1441=)	SHANK2	Single nucleotide variant (synonymous variant)	SHANK2-related condition	GLikely benign
Select item 739474	NM_012309.5(SHANK2):c.4313T>C (p.Val1438Ala)	SHANK2 (V850A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3025575	NM_012309.5(SHANK2):c.4307A>G (p.Asp1436Gly)	SHANK2 (D1057G +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 562150	NM_012309.5(SHANK2):c.4304_4305del (p.Leu1434_Ser1435insTer)	SHANK2	Deletion (nonsense)	Autism spectrum disorder	GPathogenic
Select item 436714	NM_012309.5(SHANK2):c.4296G>A (p.Pro1432=)	SHANK2	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 436704	NM_012309.5(SHANK2):c.4287T>C (p.Ala1429=)	SHANK2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1299858	NM_012309.5(SHANK2):c.4280G>A (p.Arg1427Gln)	SHANK2 (R1048Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 436705	NM_012309.5(SHANK2):c.4272C>T (p.Pro1424=)	SHANK2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 3050502	NM_012309.5(SHANK2):c.4243C>A (p.Leu1415Met)	SHANK2 (L1036M +2 more)	Single nucleotide variant (missense variant)	SHANK2-related condition	GLikely benign
Select item 721081	NM_012309.5(SHANK2):c.4231T>C (p.Leu1411=)	SHANK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 305899	NM_012309.5(SHANK2):c.4228C>T (p.Pro1410Ser)	SHANK2 (P1410S +2 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GUncertain significance
Select item 212166	NM_012309.5(SHANK2):c.4195G>A (p.Val1399Met)	SHANK2 (V1399M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 212165	NM_012309.5(SHANK2):c.4183C>T (p.Pro1395Ser)	SHANK2 (P1395S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 932531	NM_012309.5(SHANK2):c.4178C>T (p.Pro1393Leu)	SHANK2 (P1014L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2309331	NM_012309.5(SHANK2):c.4172T>G (p.Ile1391Ser)	SHANK2 (I803S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1690501	NM_012309.5(SHANK2):c.4168C>G (p.Arg1390Gly)	SHANK2 (R1011G +2 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 436715	NM_012309.5(SHANK2):c.4161_4166dup (p.Leu1387_Pro1388dup)	SHANK2	Duplication (inframe_insertion)	not specified +2 more	GBenign/Likely benign
Select item 792910	NM_012309.5(SHANK2):c.4152G>A (p.Ala1384=)	SHANK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 870790	NM_012309.5(SHANK2):c.4151del (p.Ala1384fs)	SHANK2 (A796fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2642075	NM_012309.5(SHANK2):c.4131G>A (p.Ala1377=)	SHANK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 212164	NM_012309.5(SHANK2):c.4130C>T (p.Ala1377Val)	SHANK2 (A1377V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2642076	NM_012309.5(SHANK2):c.4129G>A (p.Ala1377Thr)	SHANK2 (A1377T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 677691	NM_012309.5(SHANK2):c.4125C>T (p.Ile1375=)	SHANK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1012807	NM_012309.5(SHANK2):c.4104C>T (p.Thr1368=)	SHANK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642077	NM_012309.5(SHANK2):c.4102A>G (p.Thr1368Ala)	SHANK2 (T1368A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2238197	NM_012309.5(SHANK2):c.4087G>A (p.Ala1363Thr)	SHANK2 (A1363T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1690479	NM_012309.5(SHANK2):c.4066G>A (p.Glu1356Lys)	SHANK2 (E1356K +2 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance

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