ASIC5[gene] and "single gene"[properties] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2655152	NM_017419.3(ASIC5):c.1409A>G (p.Asn470Ser)	ASIC5 (N470S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3130380	NM_017419.3(ASIC5):c.1406C>G (p.Thr469Ser)	ASIC5 (T469S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130379	NM_017419.3(ASIC5):c.1391T>C (p.Ile464Thr)	ASIC5 (I464T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207768	NM_017419.3(ASIC5):c.1376C>T (p.Thr459Met)	ASIC5 (T459M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318190	NM_017419.3(ASIC5):c.1337G>A (p.Gly446Asp)	ASIC5 (G446D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382388	NM_017419.3(ASIC5):c.1286T>A (p.Ile429Lys)	ASIC5 (I429K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622365	NM_017419.3(ASIC5):c.1278C>G (p.Asn426Lys)	ASIC5 (N426K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318218	NM_017419.3(ASIC5):c.1253T>A (p.Ile418Asn)	ASIC5 (I418N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130378	NM_017419.3(ASIC5):c.1222C>T (p.Arg408Trp)	ASIC5 (R408W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276709	NM_017419.3(ASIC5):c.1201T>C (p.Ser401Pro)	ASIC5 (S401P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318166	NM_017419.3(ASIC5):c.1130G>A (p.Cys377Tyr)	ASIC5 (C377Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223322	NM_017419.3(ASIC5):c.1108A>T (p.Asn370Tyr)	ASIC5 (N370Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334200	NM_017419.3(ASIC5):c.1064T>C (p.Leu355Pro)	ASIC5 (L355P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318155	NM_017419.3(ASIC5):c.965A>G (p.Gln322Arg)	ASIC5 (Q322R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130386	NM_017419.3(ASIC5):c.934A>T (p.Thr312Ser)	ASIC5 (T312S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130384	NM_017419.3(ASIC5):c.850C>T (p.Arg284Cys)	ASIC5 (R284C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320702	NM_017419.3(ASIC5):c.797T>C (p.Phe266Ser)	ASIC5 (F266S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363968	NM_017419.3(ASIC5):c.790C>A (p.Pro264Thr)	ASIC5 (P264T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130383	NM_017419.3(ASIC5):c.757A>T (p.Ile253Phe)	ASIC5 (I253F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 684614	NM_017419.3(ASIC5):c.680G>T (p.Arg227Ile)	ASIC5 (R227I)	Single nucleotide variant (missense variant)	Pregnancy loss, recurrent, susceptibility to, 3	GPathogenic
Select item 2609734	NM_017419.3(ASIC5):c.571C>A (p.Pro191Thr)	ASIC5 (P191T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563154	NM_017419.3(ASIC5):c.564T>G (p.Phe188Leu)	ASIC5 (F188L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318229	NM_017419.3(ASIC5):c.500T>C (p.Val167Ala)	ASIC5 (V167A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3130382	NM_017419.3(ASIC5):c.488A>G (p.Asn163Ser)	ASIC5 (N163S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130381	NM_017419.3(ASIC5):c.355A>C (p.Thr119Pro)	ASIC5 (T119P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280830	NM_017419.3(ASIC5):c.312G>A (p.Met104Ile)	ASIC5 (M104I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3318175	NM_017419.3(ASIC5):c.298T>C (p.Tyr100His)	ASIC5 (Y100H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318199	NM_017419.3(ASIC5):c.296A>G (p.Gln99Arg)	ASIC5 (Q99R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033718	NM_017419.3(ASIC5):c.287T>C (p.Ile96Thr)	ASIC5 (I96T)	Single nucleotide variant (missense variant)	ASIC5-related disorder	GLikely benign
Select item 2365853	NM_017419.3(ASIC5):c.280A>G (p.Thr94Ala)	ASIC5 (T94A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283108	NM_017419.3(ASIC5):c.248G>A (p.Arg83His)	ASIC5 (R83H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321023	NM_017419.3(ASIC5):c.237G>C (p.Gln79His)	ASIC5 (Q79H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481680	NM_017419.3(ASIC5):c.106A>G (p.Lys36Glu)	ASIC5 (K36E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412092	NM_017419.3(ASIC5):c.101G>A (p.Arg34Gln)	ASIC5 (R34Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130387	NM_017419.3(ASIC5):c.98A>G (p.Glu33Gly)	ASIC5 (E33G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130385	NM_017419.3(ASIC5):c.92C>T (p.Pro31Leu)	ASIC5 (P31L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318178	NM_017419.3(ASIC5):c.79C>T (p.Pro27Ser)	ASIC5 (P27S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318209	NM_017419.3(ASIC5):c.67C>G (p.Leu23Val)	ASIC5 (L23V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038790	NM_017419.3(ASIC5):c.65G>T (p.Cys22Phe)	ASIC5 (C22F)	Single nucleotide variant (missense variant)	ASIC5-related disorder	GLikely benign

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Items: 39