VSTM2L[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 2480612	NM_080607.3(VSTM2L):c.8C>T (p.Ala3Val)	VSTM2L (A3V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489849	NM_080607.3(VSTM2L):c.20T>C (p.Val7Ala)	VSTM2L (V7A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332371	NM_080607.3(VSTM2L):c.70G>T (p.Ala24Ser)	VSTM2L (A24S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189165	NM_080607.3(VSTM2L):c.82G>A (p.Ala28Thr)	VSTM2L (A28T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332369	NM_080607.3(VSTM2L):c.98G>T (p.Trp33Leu)	VSTM2L (W33L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342672	NM_080607.3(VSTM2L):c.157C>T (p.Arg53Trp)	VSTM2L (R53W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332368	NM_080607.3(VSTM2L):c.158G>A (p.Arg53Gln)	VSTM2L (R53Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558791	NM_080607.3(VSTM2L):c.241G>A (p.Val81Ile)	VSTM2L (V81I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313951	NM_080607.3(VSTM2L):c.245G>A (p.Arg82Gln)	VSTM2L (R82Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189162	NM_080607.3(VSTM2L):c.265G>C (p.Asp89His)	VSTM2L (D89H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478314	NM_080607.3(VSTM2L):c.316G>T (p.Ala106Ser)	VSTM2L (A106S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273265	NM_080607.3(VSTM2L):c.355G>A (p.Val119Met)	VSTM2L (V119M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474179	NM_080607.3(VSTM2L):c.389C>T (p.Ser130Phe)	VSTM2L (S130F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570124	NM_080607.3(VSTM2L):c.404C>T (p.Thr135Met)	VSTM2L (T135M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317853	NM_080607.3(VSTM2L):c.421G>A (p.Glu141Lys)	VSTM2L (E141K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332370	NM_080607.3(VSTM2L):c.427C>T (p.Arg143Cys)	VSTM2L (R143C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569828	NM_080607.3(VSTM2L):c.435C>G (p.Ile145Met)	VSTM2L (I145M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189163	NM_080607.3(VSTM2L):c.476C>T (p.Ala159Val)	VSTM2L (A159V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222616	NM_080607.3(VSTM2L):c.502A>G (p.Asn168Asp)	VSTM2L (N168D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510213	NM_080607.3(VSTM2L):c.535G>A (p.Ala179Thr)	VSTM2L (A179T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359069	NM_080607.3(VSTM2L):c.535G>C (p.Ala179Pro)	VSTM2L (A179P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652309	NM_080607.3(VSTM2L):c.540G>A (p.Ala180=)	VSTM2L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3189164	NM_080607.3(VSTM2L):c.583C>T (p.Arg195Cys)	VSTM2L (R195C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455263	NM_080607.3(VSTM2L):c.584G>A (p.Arg195His)	VSTM2L (R195H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546190	NM_080607.3(VSTM2L):c.605G>A (p.Cys202Tyr)	VSTM2L (C202Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685645	GRCh37/hg19 20q11.23(chr20:36112920-36787057)x1	BLCAP, CTNNBL1 +5 more	Copy number loss	not provided	GUncertain significance
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic

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Items: 32