"Gelb Laboratory, University of Washington"[submitter] AND "ARSA"[gene - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3014362	NM_000487.6(ARSA):c.1507C>T (p.His503Tyr)	ARSA (H417Y +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GLikely benign
Select item 3237295	NM_000487.6(ARSA):c.1493G>C (p.Arg498Pro)	ARSA (R412P +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 855587	NM_000487.6(ARSA):c.1493G>T (p.Arg498Leu)	ARSA (R412L +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 93120	NM_000487.6(ARSA):c.1493G>A (p.Arg498His)	ARSA (R498H +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy +2 more	GBenign/Likely benign
Select item 728293	NM_000487.6(ARSA):c.1487C>T (p.Thr496Ile)	ARSA (T410I +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 68122	NM_000487.6(ARSA):c.1471T>G (p.Cys491Gly)	ARSA (C491G +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1973893	NM_000487.6(ARSA):c.1456G>A (p.Ala486Thr)	ARSA (A400T +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GUncertain significance
Select item 2141710	NM_000487.6(ARSA):c.1453C>T (p.Pro485Ser)	ARSA (P399S +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GUncertain significance
Select item 1438541	NM_000487.6(ARSA):c.1450G>C (p.Asp484His)	ARSA (D484H +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GUncertain significance
Select item 198734	NM_000487.6(ARSA):c.1447G>A (p.Glu483Lys)	ARSA (E483K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1393226	NM_000487.6(ARSA):c.1445G>A (p.Gly482Asp)	ARSA (G482D +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GUncertain significance
Select item 902514	NM_000487.6(ARSA):c.1444G>A (p.Gly482Ser)	ARSA (G396S +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy +1 more	GUncertain significance
Select item 1435681	NM_000487.6(ARSA):c.1442G>A (p.Arg481Gln)	ARSA (R481Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 991428	NM_000487.6(ARSA):c.1441C>T (p.Arg481Trp)	ARSA (R395W +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GUncertain significance
Select item 1442120	NM_000487.6(ARSA):c.1439C>T (p.Ala480Val)	ARSA (A480V +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GUncertain significance
Select item 2197456	NM_000487.6(ARSA):c.1435G>A (p.Val479Met)	ARSA (V393M +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GUncertain significance
Select item 902515	NM_000487.6(ARSA):c.1434G>C (p.Gln478His)	ARSA (Q392H +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GUncertain significance
Select item 2415334	NM_000487.6(ARSA):c.1429A>T (p.Ser477Cys)	ARSA (S391C +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GUncertain significance
Select item 1445850	NM_000487.6(ARSA):c.1423G>A (p.Gly475Ser)	ARSA (G389S +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GUncertain significance
Select item 2141293	NM_000487.6(ARSA):c.1408G>A (p.Ala470Thr)	ARSA (A384T +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GLikely benign
Select item 282932	NM_000487.6(ARSA):c.1397C>T (p.Ala466Val)	ARSA (A466V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance; other
Select item 3237256	NM_000487.6(ARSA):c.1391T>C (p.Leu464Pro)	ARSA (L378P +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 991429	NM_000487.6(ARSA):c.1378C>G (p.Gln460Glu)	ARSA (Q374E +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GUncertain significance
Select item 1982449	NM_000487.6(ARSA):c.1376A>G (p.Lys459Arg)	ARSA (K373R +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GUncertain significance
Select item 3237264	NM_000487.6(ARSA):c.1375A>G (p.Lys459Glu)	ARSA (K373E +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3237283	NM_000487.6(ARSA):c.1369G>A (p.Ala457Thr)	ARSA (A371T +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3237272	NM_000487.6(ARSA):c.1355C>T (p.Pro452Leu)	ARSA (P366L +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 742189	NM_000487.6(ARSA):c.1345G>A (p.Gly449Arg)	ARSA (G363R +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GBenign
Select item 198733	NM_000487.6(ARSA):c.1334G>T (p.Gly445Val)	ARSA (G445V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 726836	NM_000487.6(ARSA):c.1325A>G (p.Asn442Ser)	ARSA (N356S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3237290	NM_000487.6(ARSA):c.1320C>G (p.Asn440Lys)	ARSA (N354K +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3237296	NM_000487.6(ARSA):c.1313G>T (p.Gly438Val)	ARSA (G352V +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3237300	NM_000487.6(ARSA):c.1312G>A (p.Gly438Ser)	ARSA (G352S +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3237301	NM_000487.6(ARSA):c.1309C>A (p.Pro437Thr)	ARSA (P351T +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3237302	NM_000487.6(ARSA):c.1306G>A (p.Asp436Asn)	ARSA (D350N +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 771659	NM_000487.6(ARSA):c.1297C>G (p.Leu433Val)	ARSA (L347V +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GLikely benign
Select item 3237303	NM_000487.6(ARSA):c.1294G>T (p.Asp432Tyr)	ARSA (D346Y +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3237304	NM_000487.6(ARSA):c.1292A>G (p.Tyr431Cys)	ARSA (Y345C +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 68120	NM_000487.6(ARSA):c.1292A>C (p.Tyr431Ser)	ARSA (Y431S +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GPathogenic
Select item 68119	NM_000487.6(ARSA):c.1289T>C (p.Leu430Pro)	ARSA (L430P +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 2860762	NM_000487.6(ARSA):c.1288C>T (p.Leu430Phe)	ARSA (L430F +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GLikely pathogenic
Select item 932951	NM_000487.6(ARSA):c.1286T>C (p.Leu429Pro)	ARSA (L429P +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GUncertain significance
Select item 3052	NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu)	ARSA (P428L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1498762	NM_000487.6(ARSA):c.1277A>G (p.Glu426Gly)	ARSA (E340G +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GUncertain significance
Select item 3237306	NM_000487.6(ARSA):c.1273C>G (p.His425Asp)	ARSA (H339D +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3237305	NM_000487.6(ARSA):c.1273C>T (p.His425Tyr)	ARSA (H339Y +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3237307	NM_000487.6(ARSA):c.1271C>T (p.Ala424Val)	ARSA (A338V +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3237308	NM_000487.6(ARSA):c.1265T>C (p.Leu422Pro)	ARSA (L336P +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3237309	NM_000487.6(ARSA):c.1262C>G (p.Ser421Cys)	ARSA (S335C +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 342234	NM_000487.6(ARSA):c.1258A>C (p.Ser420Arg)	ARSA (S420R +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GUncertain significance
Select item 2201825	NM_000487.6(ARSA):c.1252G>A (p.Ala418Thr)	ARSA (A332T +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GUncertain significance
Select item 1320076	NM_000487.6(ARSA):c.1238A>G (p.Asp413Gly)	ARSA (D327G +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GLikely pathogenic
Select item 189170	NM_000487.6(ARSA):c.1223_1231del (p.Ser408_Thr410del)	ARSA	Deletion (inframe_deletion)	Metachromatic leukodystrophy +1 more	GPathogenic/Likely pathogenic
Select item 3092	NM_000487.6(ARSA):c.1229C>T (p.Thr410Ile)	ARSA (T410I +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GLikely pathogenic
Select item 2727611	NM_000487.6(ARSA):c.1223G>A (p.Ser408Asn)	ARSA (S322N +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GLikely pathogenic
Select item 2146705	NM_000487.6(ARSA):c.1223G>C (p.Ser408Thr)	ARSA (S322T +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GLikely pathogenic
Select item 68118	NM_000487.6(ARSA):c.1222A>G (p.Ser408Gly)	ARSA (S408G +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy +1 more	Gnot provided
Select item 3237310	NM_000487.6(ARSA):c.1216G>T (p.Ala406Ser)	ARSA (A320S +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 1705736	NM_000487.6(ARSA):c.1214C>T (p.Ser405Phe)	ARSA (S319F +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GUncertain significance
Select item 3237311	NM_000487.6(ARSA):c.1213T>C (p.Ser405Pro)	ARSA (S319P +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 1102684	NM_000487.6(ARSA):c.1211-4C>T	ARSA	Single nucleotide variant (intron variant)	Metachromatic leukodystrophy	GLikely benign
Select item 1515980	NM_000487.6(ARSA):c.1211-5C>G	ARSA	Single nucleotide variant (intron variant)	Metachromatic leukodystrophy	GUncertain significance
Select item 1528123	NM_000487.6(ARSA):c.1211-8C>T	ARSA	Single nucleotide variant (intron variant)	Metachromatic leukodystrophy	GLikely benign
Select item 3237284	NM_000487.6(ARSA):c.1210+49G>A	ARSA	Single nucleotide variant (intron variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3058	NM_000487.6(ARSA):c.1210+1G>A	ARSA	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 3237312	NM_000487.6(ARSA):c.1207C>G (p.Gln403Glu)	ARSA (Q317E +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3237313	NM_000487.6(ARSA):c.1201T>C (p.Phe401Leu)	ARSA (F315L +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 1482938	NM_000487.6(ARSA):c.1197C>G (p.His399Gln)	ARSA (H399Q +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GLikely pathogenic
Select item 68117	NM_000487.6(ARSA):c.1195C>T (p.His399Tyr)	ARSA (H399Y +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GConflicting classifications of pathogenicity
Select item 3237314	NM_000487.6(ARSA):c.1180G>A (p.Gly394Arg)	ARSA (G308R +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 21184	NM_000487.6(ARSA):c.1178C>G (p.Thr393Ser)	ARSA (T393S +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy +2 more	GBenign
Select item 3237315	NM_000487.6(ARSA):c.1177A>G (p.Thr393Ala)	ARSA (T393A +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3237316	NM_000487.6(ARSA):c.1175G>T (p.Arg392Leu)	ARSA (R306L +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 68116	NM_000487.6(ARSA):c.1175G>A (p.Arg392Gln)	ARSA (R392Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2864140	NM_000487.6(ARSA):c.1174C>G (p.Arg392Gly)	ARSA (R392G +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GLikely pathogenic
Select item 3085	NM_000487.6(ARSA):c.1174C>T (p.Arg392Trp)	ARSA (R392W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3237317	NM_000487.6(ARSA):c.1166T>C (p.Phe389Ser)	ARSA (F303S +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3237318	NM_000487.6(ARSA):c.1160G>C (p.Gly387Ala)	ARSA (G301A +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 1418977	NM_000487.6(ARSA):c.1157G>A (p.Arg386His)	ARSA (R300H +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GUncertain significance
Select item 3237319	NM_000487.6(ARSA):c.1156C>G (p.Arg386Gly)	ARSA (R300G +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 68115	NM_000487.6(ARSA):c.1156C>T (p.Arg386Cys)	ARSA (R386C +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3084	NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys)	ARSA (E384K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3237320	NM_000487.6(ARSA):c.1141T>C (p.Tyr381His)	ARSA (Y295H +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 2775712	NM_000487.6(ARSA):c.1136C>A (p.Pro379Gln)	ARSA (P379Q +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GLikely pathogenic
Select item 3083	NM_000487.6(ARSA):c.1136C>T (p.Pro379Leu)	ARSA (P379L +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy +1 more	GPathogenic
Select item 68113	NM_000487.6(ARSA):c.1132T>A (p.Tyr378Asn)	ARSA (Y378N +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy +1 more	Gnot provided
Select item 2212975	NM_000487.6(ARSA):c.1118A>C (p.Gln373Pro)	ARSA (Q287P +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy +1 more	GUncertain significance
Select item 3082	NM_000487.6(ARSA):c.1115G>A (p.Arg372Gln)	ARSA (R372Q +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GPathogenic/Likely pathogenic
Select item 3081	NM_000487.6(ARSA):c.1114C>T (p.Arg372Trp)	ARSA (R372W +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy +1 more	GPathogenic/Likely pathogenic
Select item 552329	NM_000487.6(ARSA):c.1108-3C>G	ARSA	Single nucleotide variant (intron variant)	Metachromatic leukodystrophy	GConflicting classifications of pathogenicity
Select item 1582415	NM_000487.6(ARSA):c.1107+8C>G	ARSA	Single nucleotide variant (intron variant)	Metachromatic leukodystrophy	GLikely benign
Select item 3237322	NM_000487.6(ARSA):c.1075G>A (p.Asp359Asn)	ARSA (D273N +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3237321	NM_000487.6(ARSA):c.1075G>T (p.Asp359Tyr)	ARSA (D273Y +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3237323	NM_000487.6(ARSA):c.1067A>T (p.Asp356Val)	ARSA (D270V +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3237324	NM_000487.6(ARSA):c.1060A>T (p.Thr354Ser)	ARSA (T268S +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3050	NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser)	ARSA (N352S +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign; other
Select item 3237325	NM_000487.6(ARSA):c.1054A>C (p.Asn352His)	ARSA (N266H +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3237326	NM_000487.6(ARSA):c.1039G>A (p.Gly347Arg)	ARSA (G261R +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3237327	NM_000487.6(ARSA):c.1024C>G (p.Leu342Val)	ARSA (L256V +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3080	NM_000487.6(ARSA):c.1010A>T (p.Asp337Val)	ARSA (D337V +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy +2 more	GPathogenic/Likely pathogenic

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