ClinVar for MedGen (Select 6071) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3383962	NM_002055.5(GFAP):c.778A>G (p.Lys260Glu)	GFAP (K260E)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GLikely pathogenic
Select item 3366423	NC_000022.10:g.(?_51061181)_(51066581_?)del	ARSA	Deletion	Metachromatic leukodystrophy	GPathogenic
Select item 3359213	NM_000487.6(ARSA):c.854+1dup	ARSA	Duplication (splice donor variant)	Metachromatic leukodystrophy	GPathogenic
Select item 3251974	NM_000487.6(ARSA):c.607T>A (p.Tyr203Asn)	ARSA (Y117N +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GLikely pathogenic
Select item 3247082	NC_000022.10:g.(?_51063654)_(51064566_?)del	ARSA	Deletion	Metachromatic leukodystrophy	GPathogenic
Select item 3247071	NC_000022.10:g.(?_51062002)_(51064623_?)del	ARSA	Deletion	Metachromatic leukodystrophy	GPathogenic
Select item 3247060	NC_000022.10:g.(?_51062794)_(51064004_?)del	ARSA	Deletion	Metachromatic leukodystrophy	GPathogenic
Select item 3247049	NC_000022.10:g.(?_51020158)_(51065854_?)del	ARSA, CHKB +1 more	Deletion	Metachromatic leukodystrophy	GPathogenic
Select item 3242209	NM_000487.6(ARSA):c.217C>T (p.Pro73Ser)	ARSA (P73S)	Single nucleotide variant (missense variant +1 more)	Metachromatic leukodystrophy	GUncertain significance
Select item 3237329	NM_000487.6(ARSA):c.951G>T (p.Leu317Phe)	ARSA (L231F +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3237328	NM_000487.6(ARSA):c.956T>G (p.Phe319Cys)	ARSA (F233C +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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 3237299	NM_000487.6(ARSA):c.123T>A (p.Tyr41Ter)	ARSA (Y41*)	Single nucleotide variant (nonsense +1 more)	Metachromatic leukodystrophy	Gnot provided
Select item 3237298	NM_000487.6(ARSA):c.213C>A (p.Cys71Ter)	ARSA (C71*)	Single nucleotide variant (nonsense +1 more)	Metachromatic leukodystrophy	Gnot provided
Select item 3237297	NM_000487.6(ARSA):c.465+6A>G	ARSA	Single nucleotide variant (intron 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 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 3237294	NM_000487.6(ARSA):c.684+4A>C	ARSA	Single nucleotide variant (intron variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3237293	NM_000487.6(ARSA):c.685-7C>T	ARSA	Single nucleotide variant (intron variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3237292	NM_000487.6(ARSA):c.855-8T>A	ARSA	Single nucleotide variant (intron variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3237291	NM_000487.6(ARSA):c.980-6C>G	ARSA	Single nucleotide variant (intron variant)	Metachromatic leukodystrophy	Gnot provided
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 3237289	NM_000487.6(ARSA):c.465+42A>C	ARSA	Single nucleotide variant (intron variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3237288	NM_000487.6(ARSA):c.465+44G>A	ARSA	Single nucleotide variant (intron variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3237287	NM_000487.6(ARSA):c.466-18G>C	ARSA	Single nucleotide variant (intron variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3237286	NM_000487.6(ARSA):c.684+26G>A	ARSA	Single nucleotide variant (intron variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3237285	NM_000487.6(ARSA):c.854+40G>A	ARSA	Single nucleotide variant (intron variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3237284	NM_000487.6(ARSA):c.1210+49G>A	ARSA	Single nucleotide variant (intron 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 3237282	NM_000487.6(ARSA):c.10G>C (p.Gly4Arg)	ARSA (G4R)	Single nucleotide variant (missense variant +1 more)	Metachromatic leukodystrophy	Gnot provided
Select item 3237281	NM_000487.6(ARSA):c.20G>C (p.Arg7Pro)	ARSA (R7P)	Single nucleotide variant (missense variant +1 more)	Metachromatic leukodystrophy	Gnot provided
Select item 3237280	NM_000487.6(ARSA):c.25C>G (p.Leu9Val)	ARSA (L9V)	Single nucleotide variant (missense variant +1 more)	Metachromatic leukodystrophy	Gnot provided
Select item 3237279	NM_000487.6(ARSA):c.28C>T (p.Leu10Phe)	ARSA (L10F)	Single nucleotide variant (missense variant +1 more)	Metachromatic leukodystrophy	Gnot provided
Select item 3237278	NM_000487.6(ARSA):c.104A>C (p.Tyr35Ser)	ARSA (Y35S)	Single nucleotide variant (missense variant +1 more)	Metachromatic leukodystrophy	Gnot provided
Select item 3237277	NM_000487.6(ARSA):c.115G>A (p.Gly39Ser)	ARSA (G39S)	Single nucleotide variant (missense variant +1 more)	Metachromatic leukodystrophy	Gnot provided
Select item 3237276	NM_000487.6(ARSA):c.115G>C (p.Gly39Arg)	ARSA (G39R)	Single nucleotide variant (missense variant +1 more)	Metachromatic leukodystrophy	Gnot provided
Select item 3237275	NM_000487.6(ARSA):c.143C>T (p.Thr48Ile)	ARSA (T48I)	Single nucleotide variant (missense variant +1 more)	Metachromatic leukodystrophy	Gnot provided
Select item 3237274	NM_000487.6(ARSA):c.181T>C (p.Phe61Leu)	ARSA (F61L)	Single nucleotide variant (missense variant +1 more)	Metachromatic leukodystrophy	Gnot provided
Select item 3237273	NM_000487.6(ARSA):c.197T>C (p.Val66Ala)	ARSA (V66A)	Single nucleotide variant (missense variant +1 more)	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 3237271	NM_000487.6(ARSA):c.241G>A (p.Gly81Ser)	ARSA (G81S)	Single nucleotide variant (missense variant +1 more)	Metachromatic leukodystrophy	Gnot provided
Select item 3237270	NM_000487.6(ARSA):c.241G>C (p.Gly81Arg)	ARSA (G81R)	Single nucleotide variant (missense variant +1 more)	Metachromatic leukodystrophy	Gnot provided
Select item 3237269	NM_000487.6(ARSA):c.245G>C (p.Arg82Pro)	ARSA (R82P)	Single nucleotide variant (missense variant +1 more)	Metachromatic leukodystrophy	Gnot provided
Select item 3237268	NM_000487.6(ARSA):c.269A>G (p.Tyr90Cys)	ARSA (Y4C +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3237267	NM_000487.6(ARSA):c.275G>A (p.Gly92Asp)	ARSA (G6D +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3237266	NM_000487.6(ARSA):c.280C>G (p.Leu94Val)	ARSA (L8V +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3237265	NM_000487.6(ARSA):c.283G>A (p.Val95Met)	ARSA (V95M +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
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 3237263	NM_000487.6(ARSA):c.328G>A (p.Ala110Thr)	ARSA (A110T +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3237262	NM_000487.6(ARSA):c.346C>G (p.Arg116Gly)	ARSA (R116G +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3237261	NM_000487.6(ARSA):c.350G>T (p.Gly117Val)	ARSA (G117V +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3237260	NM_000487.6(ARSA):c.397G>A (p.Glu133Lys)	ARSA (E133K +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3237259	NM_000487.6(ARSA):c.404C>A (p.Ala135Asp)	ARSA (A135D +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3237258	NM_000487.6(ARSA):c.416C>T (p.Pro139Leu)	ARSA (P139L +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3237257	NM_000487.6(ARSA):c.442G>C (p.Gly148Arg)	ARSA (G148R +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
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 3237255	NM_000487.6(ARSA):c.465G>T (p.Gln155His)	ARSA (Q155H +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3237254	NM_000487.6(ARSA):c.473G>T (p.Cys158Phe)	ARSA (C158F +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3237253	NM_000487.6(ARSA):c.477G>C (p.Gln159His)	ARSA (Q159H +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3237252	NM_000487.6(ARSA):c.497C>T (p.Pro166Leu)	ARSA (P166L +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3237251	NM_000487.6(ARSA):c.500C>T (p.Ala167Val)	ARSA (A167V +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3237250	NM_000487.6(ARSA):c.520T>C (p.Cys174Arg)	ARSA (C174R +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3237249	NM_000487.6(ARSA):c.536T>G (p.Val179Gly)	ARSA (V179G +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3237248	NM_000487.6(ARSA):c.553G>T (p.Ala185Ser)	ARSA (A185S +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3237247	NM_000487.6(ARSA):c.580C>G (p.Pro194Ala)	ARSA (P108A +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3237246	NM_000487.6(ARSA):c.581C>T (p.Pro194Leu)	ARSA (P108L +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3237245	NM_000487.6(ARSA):c.602C>T (p.Ala201Val)	ARSA (A115V +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3237244	NM_000487.6(ARSA):c.616T>G (p.Phe206Val)	ARSA (F120V +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3237243	NM_000487.6(ARSA):c.622C>T (p.His208Tyr)	ARSA (H122Y +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3237242	NM_000487.6(ARSA):c.645G>C (p.Gln215His)	ARSA (Q129H +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3237241	NM_000487.6(ARSA):c.647G>A (p.Arg216His)	ARSA (R130H +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3237240	NM_000487.6(ARSA):c.655C>T (p.Arg219Cys)	ARSA (R133C +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided
Select item 3237239	NM_000487.6(ARSA):c.658C>T (p.Pro220Ser)	ARSA (P134S +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	Gnot provided

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