ClinVar for Gene (Select 50944) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370170	NM_016148.5(SHANK1):c.5227C>T (p.Pro1743Ser)	SHANK1 (P1743S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369887	NM_016148.5(SHANK1):c.880C>A (p.Pro294Thr)	SHANK1 (P294T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369129	NM_016148.5(SHANK1):c.5342C>A (p.Thr1781Asn)	SHANK1 (T1781N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368093	NM_016148.5(SHANK1):c.1034C>T (p.Ala345Val)	SHANK1 (A345V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368086	NM_016148.5(SHANK1):c.2999_3016dup (p.His1005_His1006insProProHisHisHisHis)	SHANK1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 3365632	NM_016148.5(SHANK1):c.4150C>A (p.Arg1384Ser)	SHANK1 (R1384S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365449	NM_016148.5(SHANK1):c.2297T>A (p.Val766Glu)	SHANK1 (V766E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365269	NM_016148.5(SHANK1):c.4357C>T (p.Pro1453Ser)	SHANK1 (P1453S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363923	NM_016148.5(SHANK1):c.1367C>G (p.Ala456Gly)	SHANK1 (A456G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361377	NM_016148.5(SHANK1):c.619T>G (p.Tyr207Asp)	SHANK1 (Y207D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361200	NM_016148.5(SHANK1):c.5894C>A (p.Ala1965Asp)	SHANK1 (A1965D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359913	NM_016148.5(SHANK1):c.5356A>G (p.Thr1786Ala)	SHANK1 (T1786A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359694	NM_016148.5(SHANK1):c.239C>T (p.Pro80Leu)	SHANK1 (P80L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359588	NM_016148.5(SHANK1):c.6143A>T (p.Asp2048Val)	SHANK1 (D2048V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3349187	NM_016148.5(SHANK1):c.6229T>C (p.Ser2077Pro)	SHANK1 (S2077P)	Single nucleotide variant (missense variant)	SHANK1-related disorder	GUncertain significance
Select item 3348095	NM_016148.5(SHANK1):c.6259_6267dup (p.Pro2089_Phe2090insAspLysPro)	SHANK1	Duplication (inframe_insertion)	SHANK1-related disorder	GUncertain significance
Select item 3347122	NM_016148.5(SHANK1):c.5068A>T (p.Thr1690Ser)	SHANK1 (T1690S)	Single nucleotide variant (missense variant)	SHANK1-related disorder	GUncertain significance
Select item 3346426	NM_016148.5(SHANK1):c.3592C>T (p.Pro1198Ser)	SHANK1 (P1198S)	Single nucleotide variant (missense variant)	SHANK1-related disorder	GUncertain significance
Select item 3343503	NM_016148.5(SHANK1):c.5849C>G (p.Pro1950Arg)	SHANK1 (P1950R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342758	NM_016148.5(SHANK1):c.3316C>T (p.Arg1106Cys)	SHANK1 (R1106C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340320	NM_016148.5(SHANK1):c.4135A>G (p.Arg1379Gly)	SHANK1 (R1379G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338507	NM_016148.5(SHANK1):c.3276_3281del (p.Ser1093_Ala1094del)	SHANK1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3318206	NM_016148.5(SHANK1):c.2395G>A (p.Glu799Lys)	SHANK1 (E799K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3318205	NM_016148.5(SHANK1):c.384T>G (p.Asp128Glu)	SHANK1 (D128E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3318204	NM_016148.5(SHANK1):c.5090T>C (p.Leu1697Pro)	SHANK1 (L1697P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3318203	NM_016148.5(SHANK1):c.5261C>A (p.Pro1754His)	SHANK1 (P1754H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3318202	NM_016148.5(SHANK1):c.40C>T (p.His14Tyr)	SHANK1 (H14Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3318201	NM_016148.5(SHANK1):c.4933C>A (p.Pro1645Thr)	SHANK1 (P1645T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3318200	NM_016148.5(SHANK1):c.4843C>T (p.Pro1615Ser)	SHANK1 (P1615S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3318198	NM_016148.5(SHANK1):c.1561G>A (p.Gly521Arg)	SHANK1 (G521R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3318197	NM_016148.5(SHANK1):c.4297C>G (p.Leu1433Val)	SHANK1 (L1433V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3318196	NM_016148.5(SHANK1):c.1265G>T (p.Gly422Val)	SHANK1 (G422V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3318195	NM_016148.5(SHANK1):c.68G>A (p.Gly23Asp)	SHANK1 (G23D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3318194	NM_016148.5(SHANK1):c.1576G>T (p.Gly526Trp)	SHANK1 (G526W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3318193	NM_016148.5(SHANK1):c.4552G>A (p.Val1518Ile)	SHANK1 (V1518I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3318192	NM_016148.5(SHANK1):c.6221G>A (p.Arg2074His)	SHANK1 (R2074H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3318191	NM_016148.5(SHANK1):c.2405C>G (p.Pro802Arg)	SHANK1 (P802R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3318186	NM_016148.5(SHANK1):c.4489A>C (p.Asn1497His)	SHANK1 (N1497H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3252550	NM_016148.5(SHANK1):c.2048C>T (p.Ala683Val)	SHANK1 (A683V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234575	NM_016148.5(SHANK1):c.2804C>T (p.Thr935Ile)	SHANK1 (T935I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3161533	NM_016148.5(SHANK1):c.794C>T (p.Ala265Val)	SHANK1 (A265V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161532	NM_016148.5(SHANK1):c.6137C>T (p.Ser2046Leu)	SHANK1 (S2046L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161531	NM_016148.5(SHANK1):c.5965G>A (p.Glu1989Lys)	SHANK1 (E1989K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161530	NM_016148.5(SHANK1):c.5806C>A (p.Pro1936Thr)	SHANK1 (P1936T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161529	NM_016148.5(SHANK1):c.5740G>A (p.Glu1914Lys)	SHANK1 (E1914K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3161528	NM_016148.5(SHANK1):c.5485A>C (p.Thr1829Pro)	SHANK1 (T1829P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161527	NM_016148.5(SHANK1):c.5444C>T (p.Pro1815Leu)	SHANK1 (P1815L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3161526	NM_016148.5(SHANK1):c.5273G>A (p.Arg1758Gln)	SHANK1 (R1758Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161525	NM_016148.5(SHANK1):c.4982C>T (p.Pro1661Leu)	SHANK1 (P1661L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161523	NM_016148.5(SHANK1):c.4955C>T (p.Ala1652Val)	SHANK1 (A1652V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161522	NM_016148.5(SHANK1):c.4759G>A (p.Gly1587Arg)	SHANK1 (G1587R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161521	NM_016148.5(SHANK1):c.4690G>A (p.Val1564Met)	SHANK1 (V1564M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3161520	NM_016148.5(SHANK1):c.4586C>G (p.Pro1529Arg)	SHANK1 (P1529R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161519	NM_016148.5(SHANK1):c.4524G>C (p.Arg1508Ser)	SHANK1 (R1508S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161518	NM_016148.5(SHANK1):c.3919G>A (p.Gly1307Ser)	SHANK1 (G1307S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161517	NM_016148.5(SHANK1):c.3878T>G (p.Phe1293Cys)	SHANK1 (F1293C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3161516	NM_016148.5(SHANK1):c.370A>G (p.Thr124Ala)	SHANK1 (T124A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161515	NM_016148.5(SHANK1):c.3707T>G (p.Leu1236Arg)	SHANK1 (L1236R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161514	NM_016148.5(SHANK1):c.3592C>G (p.Pro1198Ala)	SHANK1 (P1198A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161513	NM_016148.5(SHANK1):c.2911G>A (p.Asp971Asn)	SHANK1 (D971N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161512	NM_016148.5(SHANK1):c.2596C>A (p.His866Asn)	SHANK1 (H866N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3161511	NM_016148.5(SHANK1):c.214A>G (p.Met72Val)	SHANK1 (M72V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161510	NM_016148.5(SHANK1):c.2134T>C (p.Trp712Arg)	SHANK1 (W712R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161508	NM_016148.5(SHANK1):c.1594G>A (p.Gly532Arg)	SHANK1 (G532R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161506	NM_016148.5(SHANK1):c.1114G>A (p.Asp372Asn)	SHANK1 (D372N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3067722	NM_016148.5(SHANK1):c.5468C>T (p.Pro1823Leu)	SHANK1 (P1823L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3067373	NM_016148.5(SHANK1):c.3564G>C (p.Thr1188=)	SHANK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
Select item 3060082	NM_016148.5(SHANK1):c.2691C>G (p.Asp897Glu)	SHANK1 (D897E)	Single nucleotide variant (missense variant)	SHANK1-related disorder	GBenign
Select item 3059837	NM_016148.5(SHANK1):c.3360C>T (p.Pro1120=)	SHANK1	Single nucleotide variant (synonymous variant)	SHANK1-related disorder	GBenign
Select item 3058951	NM_016148.5(SHANK1):c.532-3C>T	SHANK1	Single nucleotide variant (intron variant)	SHANK1-related disorder	GBenign
Select item 3057610	NM_016148.5(SHANK1):c.2397G>A (p.Glu799=)	SHANK1	Single nucleotide variant (synonymous variant)	SHANK1-related disorder	GLikely benign
Select item 3056492	NM_016148.5(SHANK1):c.2308+8T>C	SHANK1	Single nucleotide variant (intron variant)	SHANK1-related disorder	GBenign
Select item 3053500	NM_016148.5(SHANK1):c.2391G>A (p.Glu797=)	SHANK1	Single nucleotide variant (synonymous variant)	SHANK1-related disorder	GBenign
Select item 3053219	NM_016148.5(SHANK1):c.330C>T (p.Ser110=)	SHANK1	Single nucleotide variant (synonymous variant)	SHANK1-related disorder	GLikely benign
Select item 3052315	NM_016148.5(SHANK1):c.6249G>A (p.Ser2083=)	SHANK1	Single nucleotide variant (synonymous variant)	SHANK1-related disorder	GLikely benign
Select item 3050025	NM_016148.5(SHANK1):c.705G>C (p.Leu235=)	SHANK1	Single nucleotide variant (synonymous variant)	SHANK1-related disorder	GLikely benign
Select item 3050002	NM_016148.5(SHANK1):c.1338C>A (p.Pro446=)	SHANK1	Single nucleotide variant (synonymous variant)	SHANK1-related disorder	GLikely benign
Select item 3049989	NM_016148.5(SHANK1):c.4899C>T (p.Thr1633=)	SHANK1	Single nucleotide variant (synonymous variant)	SHANK1-related disorder	GLikely benign
Select item 3047728	NM_016148.5(SHANK1):c.5889T>C (p.Ala1963=)	SHANK1	Single nucleotide variant (synonymous variant)	SHANK1-related disorder	GLikely benign
Select item 3047717	NM_016148.5(SHANK1):c.2280G>A (p.Pro760=)	SHANK1	Single nucleotide variant (synonymous variant)	SHANK1-related disorder	GLikely benign
Select item 3047622	NM_016148.5(SHANK1):c.762C>T (p.Ala254=)	SHANK1	Single nucleotide variant (synonymous variant)	SHANK1-related disorder	GLikely benign
Select item 3047407	NM_016148.5(SHANK1):c.6156A>G (p.Pro2052=)	SHANK1	Single nucleotide variant (synonymous variant)	SHANK1-related disorder	GLikely benign
Select item 3047014	NM_016148.5(SHANK1):c.1524C>T (p.Asp508=)	SHANK1	Single nucleotide variant (synonymous variant)	SHANK1-related disorder	GLikely benign
Select item 3046745	NM_016148.5(SHANK1):c.2877T>C (p.Gly959=)	SHANK1	Single nucleotide variant (synonymous variant)	SHANK1-related disorder	GLikely benign
Select item 3045845	NM_016148.5(SHANK1):c.3815T>C (p.Leu1272Pro)	SHANK1 (L1272P)	Single nucleotide variant (missense variant)	SHANK1-related disorder	GBenign
Select item 3045093	NM_016148.5(SHANK1):c.6267G>A (p.Pro2089=)	SHANK1	Single nucleotide variant (synonymous variant)	SHANK1-related disorder	GLikely benign
Select item 3043789	NM_016148.5(SHANK1):c.3405G>T (p.Pro1135=)	SHANK1	Single nucleotide variant (synonymous variant)	SHANK1-related disorder	GLikely benign
Select item 3043594	NM_016148.5(SHANK1):c.6420A>G (p.Leu2140=)	SHANK1	Single nucleotide variant (synonymous variant)	SHANK1-related disorder	GLikely benign
Select item 3043529	NM_016148.5(SHANK1):c.3870G>A (p.Glu1290=)	SHANK1	Single nucleotide variant (synonymous variant)	SHANK1-related disorder	GLikely benign
Select item 3043494	NM_016148.5(SHANK1):c.69C>T (p.Gly23=)	SHANK1	Single nucleotide variant (synonymous variant)	SHANK1-related disorder	GLikely benign
Select item 3043305	NM_016148.5(SHANK1):c.1416G>A (p.Ser472=)	SHANK1	Single nucleotide variant (synonymous variant)	SHANK1-related disorder	GLikely benign
Select item 3038661	NM_016148.5(SHANK1):c.3989C>G (p.Thr1330Ser)	SHANK1 (T1330S)	Single nucleotide variant (missense variant)	SHANK1-related disorder	GBenign
Select item 3038076	NM_016148.5(SHANK1):c.5732A>G (p.Tyr1911Cys)	SHANK1 (Y1911C)	Single nucleotide variant (missense variant)	SHANK1-related disorder	GLikely benign
Select item 3037192	NM_016148.5(SHANK1):c.2397delinsAA (p.Gln800fs)	SHANK1 (Q800fs)	Indel (frameshift variant)	SHANK1-related disorder	GLikely pathogenic
Select item 3037125	NM_016148.5(SHANK1):c.5285_5308del (p.Leu1762_Arg1769del)	SHANK1	Deletion	SHANK1-related disorder	GLikely benign
Select item 3035866	NM_016148.5(SHANK1):c.1371G>A (p.Ala457=)	SHANK1	Single nucleotide variant (synonymous variant)	SHANK1-related disorder	GLikely benign
Select item 3035229	NM_016148.5(SHANK1):c.3629C>A (p.Ser1210Tyr)	SHANK1 (S1210Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3034802	NM_016148.5(SHANK1):c.3947G>A (p.Gly1316Asp)	SHANK1 (G1316D)	Single nucleotide variant (missense variant)	SHANK1-related disorder	GBenign
Select item 3034655	NM_016148.5(SHANK1):c.5427A>T (p.Ala1809=)	SHANK1	Single nucleotide variant (synonymous variant)	SHANK1-related disorder	GLikely benign

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