ClinVar for Gene (Select 22941) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 368

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3069072	NM_012309.5(SHANK2):c.1393G>A (p.Gly465Arg)	SHANK2 (G465R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063822	NC_000011.9:g.(70785658_70803467)_(70858385_70935742)dup	SHANK2	Duplication	not specified	GUncertain significance
Select item 3063198	GRCh37/hg19 11q13.4(chr11:70403217-70698405)x1	SHANK2	Copy number loss	not specified	GLikely pathogenic
Select item 3061121	NM_012309.5(SHANK2):c.247G>T (p.Ala83Ser)	SHANK2 (A83S)	Single nucleotide variant (missense variant)	SHANK2-related condition	GUncertain significance
Select item 3058376	NM_012309.5(SHANK2):c.411+5A>G	SHANK2	Single nucleotide variant (intron variant)	SHANK2-related condition	GLikely benign
Select item 3057016	NM_012309.5(SHANK2):c.5C>T (p.Pro2Leu)	SHANK2 (P2L)	Single nucleotide variant (missense variant)	SHANK2-related condition	GBenign
Select item 3056635	NM_012309.5(SHANK2):c.593-7T>C	SHANK2	Single nucleotide variant (intron variant)	SHANK2-related condition	GLikely benign
Select item 3056389	NM_012309.5(SHANK2):c.1511G>A (p.Gly504Asp)	SHANK2 (G125D +1 more)	Single nucleotide variant (missense variant)	SHANK2-related condition	GBenign
Select item 3054623	NM_012309.5(SHANK2):c.660T>C (p.Gly220=)	SHANK2	Single nucleotide variant (synonymous variant)	SHANK2-related condition	GLikely benign
Select item 3054405	NM_012309.5(SHANK2):c.612C>T (p.Ala204=)	SHANK2	Single nucleotide variant (synonymous variant)	SHANK2-related condition	GLikely 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 3050118	NM_012309.5(SHANK2):c.2143A>C (p.Lys715Gln)	SHANK2 (K127Q +2 more)	Single nucleotide variant (missense variant +1 more)	SHANK2-related condition	GLikely benign
Select item 3049931	NM_012309.5(SHANK2):c.2548A>C (p.Ile850Leu)	SHANK2 (I262L +2 more)	Single nucleotide variant (missense variant)	SHANK2-related condition	GLikely benign
Select item 3047862	NM_012309.5(SHANK2):c.135C>T (p.Gly45=)	SHANK2	Single nucleotide variant (synonymous variant)	SHANK2-related condition	GLikely benign
Select item 3047435	NM_012309.5(SHANK2):c.318G>A (p.Pro106=)	SHANK2	Single nucleotide variant (synonymous variant)	SHANK2-related condition	GLikely benign
Select item 3045867	NM_012309.5(SHANK2):c.823G>A (p.Gly275Arg)	SHANK2 (G275R)	Single nucleotide variant (missense variant)	SHANK2-related condition	GLikely benign
Select item 3045460	NM_012309.5(SHANK2):c.582G>A (p.Pro194=)	SHANK2	Single nucleotide variant (synonymous variant)	SHANK2-related condition	GLikely benign
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 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 3043855	NM_012309.5(SHANK2):c.3918C>T (p.Ser1306=)	SHANK2	Single nucleotide variant (synonymous variant)	SHANK2-related condition	GLikely benign
Select item 3041654	NM_012309.5(SHANK2):c.3156C>G (p.Ser1052Arg)	SHANK2 (S1052R +2 more)	Single nucleotide variant (missense variant)	SHANK2-related condition	GBenign
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 3038403	NM_012309.5(SHANK2):c.1146C>T (p.Tyr382=)	SHANK2	Single nucleotide variant (synonymous variant)	SHANK2-related condition	GBenign
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 3036094	NM_012309.5(SHANK2):c.2397G>A (p.Gln799=)	SHANK2	Single nucleotide variant (synonymous variant +1 more)	SHANK2-related condition	GLikely benign
Select item 3031430	NM_012309.5(SHANK2):c.885T>C (p.Asp295=)	SHANK2	Single nucleotide variant (synonymous variant)	SHANK2-related condition	GLikely benign
Select item 3031189	NM_012309.5(SHANK2):c.132G>A (p.Pro44=)	SHANK2	Single nucleotide variant (synonymous variant)	SHANK2-related condition	GLikely benign
Select item 3030806	NM_012309.5(SHANK2):c.891C>T (p.Asn297=)	SHANK2	Single nucleotide variant (synonymous variant)	SHANK2-related condition	GLikely benign
Select item 3026648	NM_012309.5(SHANK2):c.1963C>T (p.Pro655Ser)	SHANK2 (P276S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3025937	NM_012309.5(SHANK2):c.1450G>A (p.Ala484Thr)	SHANK2 (A105T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 3025398	NM_012309.5(SHANK2):c.5274G>A (p.Ala1758=)	SHANK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3025336	NM_012309.5(SHANK2):c.1415G>A (p.Arg472His)	SHANK2 (R472H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025106	NM_012309.5(SHANK2):c.1854-59G>A	SHANK2 (A11T)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 3024219	NM_012309.5(SHANK2):c.162del (p.Asn55fs)	SHANK2 (N55fs)	Deletion (frameshift variant)	Autism, susceptibility to, 17	GUncertain significance
Select item 2921003	NM_012309.5(SHANK2):c.2531T>C (p.Met844Thr)	SHANK2 (M844T +2 more)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 17	GUncertain significance
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 2689968	NM_012309.5(SHANK2):c.472C>T (p.Leu158Phe)	SHANK2 (L158F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689967	NM_012309.5(SHANK2):c.892G>T (p.Gly298Cys)	SHANK2 (G298C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
Select item 2672477	NM_012309.5(SHANK2):c.174dup (p.Ile59fs)	SHANK2 (I59fs)	Duplication (frameshift variant)	not provided	GUncertain significance
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 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 2663705	NM_012309.5(SHANK2):c.236C>T (p.Thr79Ile)	SHANK2 (T79I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663639	NM_012309.5(SHANK2):c.457_478del (p.Lys153fs)	SHANK2 (K153fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2663609	NM_012309.5(SHANK2):c.3025C>T (p.Arg1009Trp)	SHANK2 (R1009W +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 2663579	NM_012309.5(SHANK2):c.3746T>C (p.Ile1249Thr)	SHANK2 (I1249T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2663018	NM_012309.5(SHANK2):c.3307C>G (p.Leu1103Val)	SHANK2 (L1103V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2662882	NM_012309.5(SHANK2):c.2090G>C (p.Gly697Ala)	SHANK2 (G109A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2662876	NM_012309.5(SHANK2):c.207+5G>C	SHANK2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2662830	NM_012309.5(SHANK2):c.2699C>A (p.Pro900Gln)	SHANK2 (P312Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662823	NM_012309.5(SHANK2):c.8G>T (p.Arg3Leu)	SHANK2 (R3L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2642104	NM_012309.5(SHANK2):c.8G>A (p.Arg3His)	SHANK2 (R3H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2642103	NM_012309.5(SHANK2):c.432G>A (p.Val144=)	SHANK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642102	NM_012309.5(SHANK2):c.498A>T (p.Lys166Asn)	SHANK2 (K166N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2642101	NM_012309.5(SHANK2):c.713C>G (p.Ala238Gly)	SHANK2 (A238G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2642100	NM_012309.5(SHANK2):c.1175-5810G>A	SHANK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2642099	NM_012309.5(SHANK2):c.1282G>A (p.Ala428Thr)	SHANK2 (A428T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2642098	NM_012309.5(SHANK2):c.1287C>T (p.Ser429=)	SHANK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642097	NM_012309.5(SHANK2):c.1288G>A (p.Ala430Thr)	SHANK2 (A430T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2642096	NM_012309.5(SHANK2):c.1306T>G (p.Cys436Gly)	SHANK2 (C436G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2642095	NM_012309.5(SHANK2):c.1323G>T (p.Ser441=)	SHANK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642094	NM_012309.5(SHANK2):c.1341C>T (p.Pro447=)	SHANK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642093	NM_012309.5(SHANK2):c.1406C>A (p.Pro469His)	SHANK2 (P469H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2642092	NM_012309.5(SHANK2):c.1477C>G (p.Pro493Ala)	SHANK2 (P114A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2642091	NM_012309.5(SHANK2):c.1517A>G (p.Asn506Ser)	SHANK2 (N127S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2642090	NM_012309.5(SHANK2):c.1539C>T (p.Phe513=)	SHANK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642089	NM_012309.5(SHANK2):c.1647C>T (p.Arg549=)	SHANK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642088	NM_012309.5(SHANK2):c.1670G>A (p.Ser557Asn)	SHANK2 (S178N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2642087	NM_012309.5(SHANK2):c.1971G>T (p.Pro657=)	SHANK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2642086	NM_012309.5(SHANK2):c.1973C>G (p.Ala658Gly)	SHANK2 (A279G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2642085	NM_012309.5(SHANK2):c.2242C>T (p.Arg748Cys)	SHANK2 (R160C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2642084	NM_012309.5(SHANK2):c.2284A>G (p.Lys762Glu)	SHANK2 (K174E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2642083	NM_012309.5(SHANK2):c.2933G>T (p.Arg978Leu)	SHANK2 (R390L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2642082	NM_012309.5(SHANK2):c.3091A>T (p.Ile1031Phe)	SHANK2 (I1031F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2642081	NM_012309.5(SHANK2):c.3154A>G (p.Ser1052Gly)	SHANK2 (S1052G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2642080	NM_012309.5(SHANK2):c.3180G>A (p.Pro1060=)	SHANK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642079	NM_012309.5(SHANK2):c.3391G>A (p.Asp1131Asn)	SHANK2 (D1131N +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2642078	NM_012309.5(SHANK2):c.3789G>T (p.Thr1263=)	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 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 2642075	NM_012309.5(SHANK2):c.4131G>A (p.Ala1377=)	SHANK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2642072	NM_012309.5(SHANK2):c.4980-3756C>A	SHANK2	Single nucleotide variant (intron variant)	not provided	GLikely 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 2642070	NM_012309.5(SHANK2):c.5175C>G (p.Pro1725=)	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 2642068	NM_012309.5(SHANK2):c.5436C>T (p.Ile1812=)	SHANK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2637265	NM_012309.5(SHANK2):c.3527C>T (p.Thr1176Met)	SHANK2 (T1176M +2 more)	Single nucleotide variant (missense variant)	SHANK2-related condition	GUncertain significance
Select item 2629084	NM_012309.5(SHANK2):c.2590C>T (p.Arg864Trp)	SHANK2 (R276W +2 more)	Single nucleotide variant (missense variant)	SHANK2-related condition	GUncertain significance
Select item 2628972	NM_012309.5(SHANK2):c.1708G>A (p.Gly570Ser)	SHANK2 (G191S +1 more)	Single nucleotide variant (missense variant)	SHANK2-related condition	GUncertain significance

<< First< Prev

Page of 4