SH3YL1[gene] and "single gene"[properties] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3318185	NM_015677.4(SH3YL1):c.1021A>G (p.Met341Val)	SH3YL1 (M226V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555702	NM_015677.4(SH3YL1):c.952T>C (p.Ser318Pro)	SH3YL1 (S299P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270485	NM_015677.4(SH3YL1):c.938T>C (p.Ile313Thr)	SH3YL1 (I294T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2203788	NM_015677.4(SH3YL1):c.869C>T (p.Ala290Val)	SH3YL1 (A290V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486346	NM_015677.4(SH3YL1):c.858A>G (p.Ile286Met)	SH3YL1 (I171M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161505	NM_015677.4(SH3YL1):c.856A>G (p.Ile286Val)	SH3YL1 (I286V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318183	NM_015677.4(SH3YL1):c.764T>A (p.Leu255Gln)	SH3YL1 (L159Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161504	NM_015677.4(SH3YL1):c.736C>T (p.Pro246Ser)	SH3YL1 (P246S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363174	NM_015677.4(SH3YL1):c.659G>A (p.Arg220Gln)	SH3YL1 (R220Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357831	NM_015677.4(SH3YL1):c.610T>C (p.Tyr204His)	SH3YL1 (Y108H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283223	NM_015677.4(SH3YL1):c.601G>A (p.Glu201Lys)	SH3YL1 (E201K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403679	NM_015677.4(SH3YL1):c.598G>A (p.Ala200Thr)	SH3YL1 (A200T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282194	NM_015677.4(SH3YL1):c.589C>A (p.Pro197Thr)	SH3YL1 (P197T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161501	NM_015677.4(SH3YL1):c.587G>A (p.Arg196Gln)	SH3YL1 (R196Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548965	NM_015677.4(SH3YL1):c.586C>T (p.Arg196Trp)	SH3YL1 (R100W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161500	NM_015677.4(SH3YL1):c.581C>T (p.Thr194Ile)	SH3YL1 (T98I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3161499	NM_015677.4(SH3YL1):c.564C>A (p.Asp188Glu)	SH3YL1 (D92E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345387	NM_015677.4(SH3YL1):c.452C>T (p.Thr151Met)	SH3YL1 (T55M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539287	NM_015677.4(SH3YL1):c.451A>C (p.Thr151Pro)	SH3YL1 (T151P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318184	NM_015677.4(SH3YL1):c.434G>A (p.Ser145Asn)	SH3YL1 (S145N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161498	NM_015677.4(SH3YL1):c.421G>T (p.Val141Leu)	SH3YL1 (V45L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161496	NM_015677.4(SH3YL1):c.419A>C (p.Asn140Thr)	SH3YL1 (N44T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622889	NM_015677.4(SH3YL1):c.405G>T (p.Arg135Ser)	SH3YL1 (R135S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161495	NM_015677.4(SH3YL1):c.367G>A (p.Gly123Arg)	SH3YL1 (G123R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492619	NM_015677.4(SH3YL1):c.325C>T (p.Arg109Cys)	SH3YL1 (R13C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360942	NM_015677.4(SH3YL1):c.228A>C (p.Lys76Asn)	SH3YL1 (K76N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3318182	NM_015677.4(SH3YL1):c.211C>T (p.Arg71Cys)	SH3YL1 (R71C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2588938	NM_015677.4(SH3YL1):c.209C>T (p.Ala70Val)	SH3YL1 (A70V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3161494	NM_015677.4(SH3YL1):c.118G>A (p.Val40Ile)	SH3YL1 (V40I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2463340	NM_015677.4(SH3YL1):c.104T>A (p.Ile35Asn)	SH3YL1 (I35N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3161502	NM_015677.4(SH3YL1):c.5A>G (p.Asn2Ser)	SH3YL1 (N2S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 979985	GRCh37/hg19 2p25.3(chr2:210211-262993)x1	SH3YL1	Copy number loss	not provided	GLikely benign

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Items: 32