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

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3349104	NM_001011719.2(ARSH):c.-18G>A	ARSH	Single nucleotide variant (5 prime UTR variant)	ARSH-related condition	GLikely benign
Select item 3129906	NM_001011719.2(ARSH):c.24C>G (p.Asn8Lys)	ARSH (N8K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382474	NM_001011719.2(ARSH):c.40G>A (p.Ala14Thr)	ARSH (A14T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316570	NM_001011719.2(ARSH):c.76G>A (p.Gly26Ser)	ARSH (G26S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781533	NM_001011719.2(ARSH):c.110G>A (p.Arg37His)	ARSH (R37H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 558976	NM_001011719.2(ARSH):c.147C>T (p.Leu49=)	ARSH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 558977	NM_001011719.2(ARSH):c.192C>T (p.Thr64=)	ARSH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3129905	NM_001011719.2(ARSH):c.193G>A (p.Gly65Ser)	ARSH (G65S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362277	NM_001011719.2(ARSH):c.196C>T (p.Arg66Trp)	ARSH (R66W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2589448	NM_001011719.2(ARSH):c.205A>G (p.Ile69Val)	ARSH (I69V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263046	NM_001011719.2(ARSH):c.239A>G (p.Asn80Ser)	ARSH (N80S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231228	NM_001011719.2(ARSH):c.319G>A (p.Gly107Ser)	ARSH (G107S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223249	NM_001011719.2(ARSH):c.325C>T (p.Arg109Cys)	ARSH (R109C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237189	NM_001011719.2(ARSH):c.329C>A (p.Thr110Lys)	ARSH (T110K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 558978	NM_001011719.2(ARSH):c.340+18T>G	ARSH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2229112	NM_001011719.2(ARSH):c.373C>T (p.Arg125Trp)	ARSH (R125W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398871	NM_001011719.2(ARSH):c.385T>C (p.Cys129Arg)	ARSH (C129R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 558979	NM_001011719.2(ARSH):c.387T>C (p.Cys129=)	ARSH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 558980	NM_001011719.2(ARSH):c.396G>C (p.Pro132=)	ARSH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 558981	NM_001011719.2(ARSH):c.428T>G (p.Val143Gly)	ARSH (V143G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 713928	NM_001011719.2(ARSH):c.430C>A (p.Pro144Thr)	ARSH (P144T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3129908	NM_001011719.2(ARSH):c.481C>T (p.Arg161Cys)	ARSH (R161C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316574	NM_001011719.2(ARSH):c.562C>T (p.Arg188Cys)	ARSH (R188C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 558982	NM_001011719.2(ARSH):c.563G>A (p.Arg188His)	ARSH (R188H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 558983	NM_001011719.2(ARSH):c.641G>A (p.Ser214Asn)	ARSH (S214N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 558984	NM_001011719.2(ARSH):c.653C>T (p.Thr218Ile)	ARSH (T218I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3316590	NM_001011719.2(ARSH):c.704C>T (p.Pro235Leu)	ARSH (P235L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129909	NM_001011719.2(ARSH):c.706A>G (p.Met236Val)	ARSH (M236V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129910	NM_001011719.2(ARSH):c.815C>A (p.Thr272Asn)	ARSH (T272N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 558985	NM_001011719.2(ARSH):c.949T>C (p.Leu317=)	ARSH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3316587	NM_001011719.2(ARSH):c.988C>A (p.Pro330Thr)	ARSH (P330T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605710	NM_001011719.2(ARSH):c.1024G>A (p.Gly342Arg)	ARSH (G342R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 558986	NM_001011719.2(ARSH):c.1072C>T (p.Arg358Cys)	ARSH (R358C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2238833	NM_001011719.2(ARSH):c.1102G>A (p.Val368Ile)	ARSH (V368I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129900	NM_001011719.2(ARSH):c.1151T>C (p.Ile384Thr)	ARSH (I384T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 558987	NM_001011719.2(ARSH):c.1160C>T (p.Thr387Met)	ARSH (T387M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2659865	NM_001011719.2(ARSH):c.1164G>A (p.Leu388=)	ARSH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3316580	NM_001011719.2(ARSH):c.1175G>A (p.Gly392Asp)	ARSH (G392D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1328274	NM_001011719.2(ARSH):c.1177G>A (p.Gly393Arg)	ARSH (G393R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3316585	NM_001011719.2(ARSH):c.1197C>G (p.Asp399Glu)	ARSH (D399E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316594	NM_001011719.2(ARSH):c.1217A>T (p.Asn406Ile)	ARSH (N406I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783900	NM_001011719.2(ARSH):c.1224G>A (p.Met408Ile)	ARSH (M408I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3129901	NM_001011719.2(ARSH):c.1241G>T (p.Arg414Met)	ARSH (R414M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287050	NM_001011719.2(ARSH):c.1270T>C (p.Phe424Leu)	ARSH (F424L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129902	NM_001011719.2(ARSH):c.1274A>G (p.His425Arg)	ARSH (H425R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310525	NM_001011719.2(ARSH):c.1289A>T (p.Tyr430Phe)	ARSH (Y430F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390995	NM_001011719.2(ARSH):c.1348G>A (p.Val450Met)	ARSH (V450M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518883	NM_001011719.2(ARSH):c.1349T>C (p.Val450Ala)	ARSH (V450A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374589	NM_001011719.2(ARSH):c.1408T>C (p.Cys470Arg)	ARSH (C470R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129903	NM_001011719.2(ARSH):c.1438C>G (p.Pro480Ala)	ARSH (P480A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 558988	NM_001011719.2(ARSH):c.1489C>G (p.Pro497Ala)	ARSH (P497A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2522869	NM_001011719.2(ARSH):c.1552C>T (p.Arg518Cys)	ARSH (R518C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316586	NM_001011719.2(ARSH):c.1601T>C (p.Ile534Thr)	ARSH (I534T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659866	NM_001011719.2(ARSH):c.1610C>T (p.Pro537Leu)	ARSH (P537L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 558989	NM_001011719.2(ARSH):c.1611A>G (p.Pro537=)	ARSH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3129904	NM_001011719.2(ARSH):c.1660G>A (p.Glu554Lys)	ARSH (E554K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316600	NM_001011719.2(ARSH):c.1684C>T (p.Pro562Ser)	ARSH (P562S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272183	NM_001011719.2(ARSH):c.1685C>A (p.Pro562His)	ARSH (P562H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 558990	NM_001011719.2(ARSH):c.*8C>G	ARSH	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign

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Items: 59