VAX2[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	C2orf74, CCT4 +768 more	Copy number gain	See cases	GPathogenic
Select item 1707458	Single allele	AAK1, ADD2 +107 more	Duplication	not specified	GUncertain significance
Select item 144474	GRCh38/hg38 2p13.3-13.2(chr2:70709155-72346899)x3	ADD2, ANKRD53 +48 more	Copy number gain	See cases	GUncertain significance
Select item 2353379	NM_012476.3(VAX2):c.55G>A (p.Gly19Ser)	VAX2 (G19S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 783331	NM_012476.3(VAX2):c.70C>G (p.Arg24Gly)	VAX2 (R24G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2231484	NM_012476.3(VAX2):c.73T>G (p.Cys25Gly)	VAX2 (C25G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2591216	NM_012476.3(VAX2):c.115G>A (p.Gly39Ser)	VAX2 (G39S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409598	NM_012476.3(VAX2):c.146C>G (p.Thr49Ser)	VAX2 (T49S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557601	NM_012476.3(VAX2):c.289C>A (p.Leu97Met)	VAX2 (L97M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352905	NM_012476.3(VAX2):c.301C>T (p.Arg101Trp)	VAX2 (R101W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351905	NM_012476.3(VAX2):c.311G>A (p.Arg104Gln)	VAX2 (R104Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515007	NM_012476.3(VAX2):c.346C>T (p.Arg116Cys)	VAX2 (R116C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371179	NM_012476.3(VAX2):c.371G>C (p.Cys124Ser)	VAX2 (C124S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 221930	NM_012476.3(VAX2):c.398C>T (p.Thr133Ile)	VAX2 (T133I)	Single nucleotide variant (missense variant)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 2401365	NM_012476.3(VAX2):c.458G>A (p.Arg153His)	VAX2 (R153H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361214	NM_012476.3(VAX2):c.502C>G (p.Arg168Gly)	VAX2 (R168G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596089	NM_012476.3(VAX2):c.550C>T (p.Arg184Trp)	VAX2 (R184W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204219	NM_012476.3(VAX2):c.602T>A (p.Leu201Gln)	VAX2 (L201Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 740449	NM_012476.3(VAX2):c.629T>C (p.Leu210Pro)	VAX2 (L210P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2559285	NM_012476.3(VAX2):c.691C>G (p.Pro231Ala)	VAX2 (P231A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336373	NM_012476.3(VAX2):c.716C>T (p.Pro239Leu)	VAX2 (P239L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514202	NM_012476.3(VAX2):c.719C>T (p.Pro240Leu)	VAX2 (P240L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600727	NM_012476.3(VAX2):c.742G>C (p.Val248Leu)	VAX2 (V248L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2251956	NM_012476.3(VAX2):c.776C>A (p.Pro259His)	VAX2 (P259H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363852	NM_012476.3(VAX2):c.829C>T (p.Arg277Trp)	VAX2 (R277W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062659	GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)x1	ACTG2, ALMS1 +60 more	Copy number loss	not specified	GLikely pathogenic
Select item 2498868	GRCh37/hg19 2p14-13.3(chr2:65296579-71305638)x1	AAK1, ACTR2 +43 more	Copy number loss	not provided	GUncertain significance
Select item 2427025	NC_000002.11:g.(?_69240632)_(74779761_?)dup	DGUOK, EMX1 +72 more	Duplication	not provided	GUncertain significance
Select item 2424629	NC_000002.11:g.(?_71004499)_(74779761_?)del	ACTG2, ALMS1 +55 more	Deletion	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GPathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 687916	GRCh37/hg19 2p13.3(chr2:71083574-71164743)x3	ATP6V1B1, VAX2	Copy number gain	not provided	GUncertain significance
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic

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Items: 37