ClinVar for Gene (Select 342865) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3332366	NM_001146339.2(VSTM2B):c.106G>A (p.Asp36Asn)	VSTM2B (D36N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332365	NM_001146339.2(VSTM2B):c.782G>A (p.Ser261Asn)	VSTM2B (S173N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332364	NM_001146339.2(VSTM2B):c.773C>T (p.Thr258Ile)	VSTM2B (T248I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332363	NM_001146339.2(VSTM2B):c.592G>A (p.Gly198Ser)	VSTM2B (G110S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189161	NM_001146339.2(VSTM2B):c.844C>T (p.Leu282Phe)	VSTM2B (L194F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189160	NM_001146339.2(VSTM2B):c.802T>G (p.Leu268Val)	VSTM2B (L212V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189159	NM_001146339.2(VSTM2B):c.779G>T (p.Arg260Leu)	VSTM2B (R172L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189158	NM_001146339.2(VSTM2B):c.667G>C (p.Ala223Pro)	VSTM2B (A135P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189157	NM_001146339.2(VSTM2B):c.65T>A (p.Leu22Gln)	VSTM2B (L22Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189156	NM_001146339.2(VSTM2B):c.582G>T (p.Glu194Asp)	VSTM2B (E106D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189155	NM_001146339.2(VSTM2B):c.391G>C (p.Asp131His)	VSTM2B (D131H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189154	NM_001146339.2(VSTM2B):c.256G>T (p.Ala86Ser)	VSTM2B (A86S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189153	NM_001146339.2(VSTM2B):c.245G>A (p.Ser82Asn)	VSTM2B (S82N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189152	NM_001146339.2(VSTM2B):c.163G>A (p.Gly55Arg)	VSTM2B (G55R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2622227	NM_001146339.2(VSTM2B):c.55C>T (p.His19Tyr)	VSTM2B (H19Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596688	NM_001146339.2(VSTM2B):c.214C>T (p.Pro72Ser)	VSTM2B (P26S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545649	NM_001146339.2(VSTM2B):c.592G>T (p.Gly198Cys)	VSTM2B (G110C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534733	NM_001146339.2(VSTM2B):c.433A>C (p.Met145Leu)	VSTM2B (M145L +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2494559	NM_001146339.2(VSTM2B):c.694G>A (p.Ala232Thr)	VSTM2B (A186T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485382	NM_001146339.2(VSTM2B):c.530C>A (p.Ala177Asp)	VSTM2B (A131D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467841	NM_001146339.2(VSTM2B):c.619C>T (p.Pro207Ser)	VSTM2B (P207S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461843	NM_001146339.2(VSTM2B):c.617G>T (p.Ser206Ile)	VSTM2B (S196I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411321	NM_001146339.2(VSTM2B):c.142C>T (p.Pro48Ser)	VSTM2B (P2S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398602	NM_001146339.2(VSTM2B):c.481G>A (p.Glu161Lys)	VSTM2B (E161K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392240	NM_001146339.2(VSTM2B):c.779G>A (p.Arg260His)	VSTM2B (R204H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388751	NM_001146339.2(VSTM2B):c.535G>T (p.Ala179Ser)	VSTM2B (A123S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377883	NM_001146339.2(VSTM2B):c.446T>C (p.Leu149Pro)	VSTM2B (L139P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340831	NM_001146339.2(VSTM2B):c.196T>G (p.Trp66Gly)	VSTM2B (W20G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325771	NM_001146339.2(VSTM2B):c.523G>C (p.Gly175Arg)	VSTM2B (G87R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325262	NM_001146339.2(VSTM2B):c.602G>C (p.Ser201Thr)	VSTM2B (S191T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319465	NM_001146339.2(VSTM2B):c.41C>T (p.Pro14Leu)	VSTM2B (P14L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304174	NM_001146339.2(VSTM2B):c.365A>T (p.Glu122Val)	VSTM2B (E66V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280854	NM_001146339.2(VSTM2B):c.334C>T (p.Leu112Phe)	VSTM2B (L66F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278584	NM_001146339.2(VSTM2B):c.79G>A (p.Asp27Asn)	VSTM2B (D27N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 980759	GRCh37/hg19 19q12(chr19:29739728-31053524)x3	C19orf12, CCNE1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 777466	NM_001146339.2(VSTM2B):c.666G>C (p.Ser222=)	VSTM2B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 564604	GRCh37/hg19 19q12(chr19:29083484-31804809)x3	VSTM2B, ZNF536 +7 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442775	GRCh37/hg19 19q11-12(chr19:28271107-31110233)x1	C19orf12, CCNE1 +6 more	Copy number loss	See cases	GLikely pathogenic
Select item 155638	GRCh38/hg38 19q11-13.11(chr19:27780238-34783942)x3	ANKRD27, C19orf12 +210 more	Copy number gain	See cases	GUncertain significance
Select item 153639	GRCh38/hg38 19q12-13.11(chr19:29051888-31967596)x1	C19orf12, CCNE1 +71 more	Copy number loss	See cases	GLikely pathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic

ClinVar

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Germline classification

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Links from Gene

Items: 47