ClinVar for MedGen (Select 6071) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067910	NM_000487.6(ARSA):c.362G>A (p.Gly121Glu)	ARSA (G121E +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GUncertain significance
Select item 3064909	NM_000487.6(ARSA):c.641C>A (p.Ala214Asp)	ARSA (A128D +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GUncertain significance
Select item 3064815	NM_000487.6(ARSA):c.418C>T (p.His140Tyr)	ARSA (H140Y +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GUncertain significance
Select item 3023355	NM_000487.6(ARSA):c.252G>A (p.Pro84=)	ARSA	Single nucleotide variant (synonymous variant +1 more)	Metachromatic leukodystrophy	GLikely benign
Select item 3021393	NM_000487.6(ARSA):c.912G>A (p.Lys304=)	ARSA	Single nucleotide variant (synonymous variant)	Metachromatic leukodystrophy	GLikely benign
Select item 3019725	NM_000487.6(ARSA):c.225-13A>G	ARSA	Single nucleotide variant (intron variant)	Metachromatic leukodystrophy	GLikely benign
Select item 3019313	NM_000487.6(ARSA):c.980-20G>A	ARSA	Single nucleotide variant (intron variant)	Metachromatic leukodystrophy	GLikely benign
Select item 3017300	NM_000487.6(ARSA):c.684+20C>T	ARSA	Single nucleotide variant (intron variant)	Metachromatic leukodystrophy	GLikely benign
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 3013736	NM_000487.6(ARSA):c.855-12C>T	ARSA	Single nucleotide variant (intron variant)	Metachromatic leukodystrophy	GLikely benign
Select item 3009287	NM_000487.6(ARSA):c.855-18G>A	ARSA	Single nucleotide variant (intron variant)	Metachromatic leukodystrophy	GLikely benign
Select item 3007690	NM_000487.6(ARSA):c.579C>T (p.Pro193=)	ARSA	Single nucleotide variant (synonymous variant)	Metachromatic leukodystrophy	GLikely benign
Select item 3006660	NM_000487.6(ARSA):c.1047A>G (p.Pro349=)	ARSA	Single nucleotide variant (synonymous variant)	Metachromatic leukodystrophy	GLikely benign
Select item 3006186	NM_000487.6(ARSA):c.1210+14G>C	ARSA	Single nucleotide variant (intron variant)	Metachromatic leukodystrophy	GLikely benign
Select item 2999447	NM_000487.6(ARSA):c.769G>A (p.Asp257Asn)	ARSA (D171N +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GLikely pathogenic
Select item 2990837	NM_000487.6(ARSA):c.133A>G (p.Ser45Gly)	ARSA (S45G)	Single nucleotide variant (missense variant +1 more)	Metachromatic leukodystrophy	GLikely pathogenic
Select item 2984780	NM_000487.6(ARSA):c.1107+19G>A	ARSA	Single nucleotide variant (intron variant)	Metachromatic leukodystrophy	GLikely benign
Select item 2983359	NM_000487.6(ARSA):c.685-14G>C	ARSA	Single nucleotide variant (intron variant)	Metachromatic leukodystrophy	GLikely benign
Select item 2982087	NM_000487.6(ARSA):c.465+20del	ARSA	Deletion (intron variant)	Metachromatic leukodystrophy	GLikely benign
Select item 2981858	NM_000487.6(ARSA):c.1211-15T>G	ARSA	Single nucleotide variant (intron variant)	Metachromatic leukodystrophy	GLikely benign
Select item 2980014	NM_000487.6(ARSA):c.685-18T>G	ARSA	Single nucleotide variant (intron variant)	Metachromatic leukodystrophy	GLikely benign
Select item 2979545	NM_000487.6(ARSA):c.178C>A (p.Arg60=)	ARSA	Single nucleotide variant (synonymous variant +1 more)	Metachromatic leukodystrophy	GLikely benign
Select item 2975837	NM_000487.6(ARSA):c.224+19C>T	ARSA	Single nucleotide variant (intron variant)	Metachromatic leukodystrophy	GLikely benign
Select item 2963498	NM_000487.6(ARSA):c.1458C>T (p.Ala486=)	ARSA	Single nucleotide variant (synonymous variant)	Metachromatic leukodystrophy	GLikely benign
Select item 2963027	NM_000487.6(ARSA):c.1464G>A (p.Gln488=)	ARSA	Single nucleotide variant (synonymous variant)	Metachromatic leukodystrophy	GLikely benign
Select item 2963006	NM_000487.6(ARSA):c.854+13_854+65del	ARSA	Deletion (intron variant)	Metachromatic leukodystrophy	GLikely benign
Select item 2960834	NM_000487.6(ARSA):c.863C>A (p.Thr288Asn)	ARSA (T288N +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GLikely pathogenic
Select item 2959942	NM_000487.6(ARSA):c.685-12C>G	ARSA	Single nucleotide variant (intron variant)	Metachromatic leukodystrophy	GLikely benign
Select item 2955911	NM_000487.6(ARSA):c.684+16C>A	ARSA	Single nucleotide variant (intron variant)	Metachromatic leukodystrophy	GLikely benign
Select item 2920082	NM_000487.6(ARSA):c.303C>G (p.Gly101=)	ARSA	Single nucleotide variant (synonymous variant)	Metachromatic leukodystrophy	GLikely benign
Select item 2919912	NM_000487.6(ARSA):c.224+20T>C	ARSA	Single nucleotide variant (intron variant)	Metachromatic leukodystrophy	GLikely benign
Select item 2918575	NM_000487.6(ARSA):c.177G>A (p.Leu59=)	ARSA	Single nucleotide variant (synonymous variant +1 more)	Metachromatic leukodystrophy	GLikely benign
Select item 2918425	NM_000487.6(ARSA):c.312G>A (p.Leu104=)	ARSA	Single nucleotide variant (synonymous variant)	Metachromatic leukodystrophy	GLikely benign
Select item 2917178	NM_000487.6(ARSA):c.980-17C>T	ARSA	Single nucleotide variant (intron variant)	Metachromatic leukodystrophy	GLikely benign
Select item 2916845	NM_000487.6(ARSA):c.979+20C>T	ARSA	Single nucleotide variant (intron variant)	Metachromatic leukodystrophy	GLikely benign
Select item 2916122	NM_000487.6(ARSA):c.224+13C>T	ARSA	Single nucleotide variant (intron variant)	Metachromatic leukodystrophy	GLikely benign
Select item 2915377	NM_000487.6(ARSA):c.514G>T (p.Gly172Cys)	ARSA (G172C +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GPathogenic
Select item 2914124	NM_000487.6(ARSA):c.555C>T (p.Ala185=)	ARSA	Single nucleotide variant (synonymous variant)	Metachromatic leukodystrophy	GLikely benign
Select item 2904004	NM_000487.6(ARSA):c.1254C>T (p.Ala418=)	ARSA	Single nucleotide variant (synonymous variant)	Metachromatic leukodystrophy	GLikely benign
Select item 2900170	NM_000487.6(ARSA):c.684+14G>A	ARSA	Single nucleotide variant (intron variant)	Metachromatic leukodystrophy	GLikely benign
Select item 2897710	NM_000487.6(ARSA):c.93C>G (p.Asp31Glu)	ARSA (D31E)	Single nucleotide variant (missense variant +1 more)	Metachromatic leukodystrophy	GPathogenic
Select item 2894593	NM_000487.6(ARSA):c.1071C>T (p.Gly357=)	ARSA	Single nucleotide variant (synonymous variant)	Metachromatic leukodystrophy	GLikely benign
Select item 2894011	NM_000487.6(ARSA):c.979+13G>C	ARSA	Single nucleotide variant (intron variant)	Metachromatic leukodystrophy	GLikely benign
Select item 2893410	NM_000487.6(ARSA):c.979+20C>A	ARSA	Single nucleotide variant (intron variant)	Metachromatic leukodystrophy	GLikely benign
Select item 2886774	NM_000487.6(ARSA):c.980-13C>T	ARSA	Single nucleotide variant (intron variant)	Metachromatic leukodystrophy	GLikely benign
Select item 2884096	NM_000487.6(ARSA):c.256C>G (p.Arg86Gly)	ARSA (R86G)	Single nucleotide variant (missense variant +1 more)	Metachromatic leukodystrophy	GLikely pathogenic
Select item 2882540	NM_000487.6(ARSA):c.1107+12G>A	ARSA	Single nucleotide variant (intron variant)	Metachromatic leukodystrophy	GLikely benign
Select item 2875167	NM_000487.6(ARSA):c.486C>T (p.Thr162=)	ARSA	Single nucleotide variant (synonymous variant)	Metachromatic leukodystrophy	GLikely benign
Select item 2871404	NM_000487.6(ARSA):c.48C>T (p.Gly16=)	ARSA	Single nucleotide variant (synonymous variant +1 more)	Metachromatic leukodystrophy	GLikely benign
Select item 2870118	NM_000487.6(ARSA):c.412C>G (p.Pro138Ala)	ARSA (P138A +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GLikely pathogenic
Select item 2867105	NM_000487.6(ARSA):c.891C>A (p.Ser297=)	ARSA	Single nucleotide variant (synonymous variant)	Metachromatic leukodystrophy	GLikely benign
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 2861663	NM_000487.6(ARSA):c.1158T>A (p.Arg386=)	ARSA	Single nucleotide variant (synonymous variant)	Metachromatic leukodystrophy	GLikely benign
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 2860325	NM_000487.6(ARSA):c.958T>G (p.Trp320Gly)	ARSA (W234G +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GLikely pathogenic
Select item 2857864	NM_000487.6(ARSA):c.1282C>T (p.Pro428Ser)	ARSA (P428S +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GLikely pathogenic
Select item 2857545	NM_000487.6(ARSA):c.69C>G (p.Pro23=)	ARSA	Single nucleotide variant (synonymous variant +1 more)	Metachromatic leukodystrophy	GLikely benign
Select item 2856599	NM_000487.6(ARSA):c.908G>T (p.Gly303Val)	ARSA (G217V +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GLikely pathogenic
Select item 2854632	NM_000487.6(ARSA):c.1441C>A (p.Arg481=)	ARSA	Single nucleotide variant (synonymous variant)	Metachromatic leukodystrophy	GLikely benign
Select item 2852600	NM_000487.6(ARSA):c.225-1G>C	ARSA	Single nucleotide variant (splice acceptor variant)	Metachromatic leukodystrophy	GLikely pathogenic
Select item 2851726	NM_000487.6(ARSA):c.536del (p.Val179fs)	ARSA (V93fs +1 more)	Deletion (frameshift variant)	Metachromatic leukodystrophy	GPathogenic
Select item 2847035	NM_000487.6(ARSA):c.135C>G (p.Ser45Arg)	ARSA (S45R)	Single nucleotide variant (missense variant +1 more)	Metachromatic leukodystrophy	GLikely pathogenic
Select item 2843908	NM_000487.6(ARSA):c.855-24_907del	ARSA	Deletion (splice acceptor variant)	Metachromatic leukodystrophy	GPathogenic
Select item 2843786	NM_000487.6(ARSA):c.465+15G>A	ARSA	Single nucleotide variant (intron variant)	Metachromatic leukodystrophy	GLikely benign
Select item 2842258	NM_000487.6(ARSA):c.349G>C (p.Gly117Arg)	ARSA (G117R +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GUncertain significance
Select item 2838206	NM_000487.6(ARSA):c.738C>G (p.Arg246=)	ARSA	Single nucleotide variant (synonymous variant)	Metachromatic leukodystrophy	GLikely benign
Select item 2837519	NM_000487.6(ARSA):c.1451del (p.Asp484fs)	ARSA (D398fs +1 more)	Deletion (frameshift variant)	Metachromatic leukodystrophy	GPathogenic
Select item 2835350	NM_000487.6(ARSA):c.129_133del (p.His43fs)	ARSA (H43fs)	Deletion (frameshift variant +1 more)	Metachromatic leukodystrophy	GPathogenic
Select item 2834534	NM_000487.6(ARSA):c.390G>A (p.Val130=)	ARSA	Single nucleotide variant (synonymous variant)	Metachromatic leukodystrophy	GLikely benign
Select item 2831980	NM_000487.6(ARSA):c.1173G>A (p.Val391=)	ARSA	Single nucleotide variant (synonymous variant)	Metachromatic leukodystrophy	GLikely benign
Select item 2829966	NM_000487.6(ARSA):c.466-11G>C	ARSA	Single nucleotide variant (intron variant)	Metachromatic leukodystrophy	GLikely benign
Select item 2829718	NM_000487.6(ARSA):c.224+9G>C	ARSA	Single nucleotide variant (intron variant)	Metachromatic leukodystrophy	GLikely benign
Select item 2827333	NM_000487.6(ARSA):c.1335G>T (p.Gly445=)	ARSA	Single nucleotide variant (synonymous variant)	Metachromatic leukodystrophy	GLikely benign
Select item 2827046	NM_000487.6(ARSA):c.349_350dup (p.Tyr118fs)	ARSA (Y118fs +1 more)	Duplication (frameshift variant)	Metachromatic leukodystrophy	GPathogenic
Select item 2827043	NM_000487.6(ARSA):c.1527C>A (p.Ala509=)	ARSA	Single nucleotide variant (synonymous variant)	Metachromatic leukodystrophy	GLikely benign
Select item 2825858	NM_000487.6(ARSA):c.899T>G (p.Leu300Trp)	ARSA (L300W +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GLikely pathogenic
Select item 2825551	NM_000487.6(ARSA):c.771T>G (p.Asp257Glu)	ARSA (D171E +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GLikely pathogenic
Select item 2823991	NM_000487.6(ARSA):c.1335G>C (p.Gly445=)	ARSA	Single nucleotide variant (synonymous variant)	Metachromatic leukodystrophy	GLikely benign
Select item 2823397	NM_000487.6(ARSA):c.1347G>A (p.Gly449=)	ARSA	Single nucleotide variant (synonymous variant)	Metachromatic leukodystrophy	GLikely benign
Select item 2822745	NM_000487.6(ARSA):c.1210+7C>T	ARSA	Single nucleotide variant (intron variant)	Metachromatic leukodystrophy	GLikely benign
Select item 2821144	NM_000487.6(ARSA):c.225-9G>C	ARSA	Single nucleotide variant (intron variant)	Metachromatic leukodystrophy	GLikely benign
Select item 2820696	NM_000487.6(ARSA):c.61del (p.Arg21fs)	ARSA (R21fs)	Deletion (frameshift variant +1 more)	Metachromatic leukodystrophy	GPathogenic
Select item 2819725	NM_000487.6(ARSA):c.898T>C (p.Leu300=)	ARSA	Single nucleotide variant (synonymous variant)	Metachromatic leukodystrophy	GLikely benign
Select item 2818489	NM_000487.6(ARSA):c.195C>G (p.Tyr65Ter)	ARSA (Y65*)	Single nucleotide variant (nonsense +1 more)	Metachromatic leukodystrophy	GPathogenic
Select item 2817882	NM_000487.6(ARSA):c.813G>A (p.Gly271=)	ARSA	Single nucleotide variant (synonymous variant)	Metachromatic leukodystrophy	GLikely benign
Select item 2815517	NM_000487.6(ARSA):c.1044C>G (p.Ala348=)	ARSA	Single nucleotide variant (synonymous variant)	Metachromatic leukodystrophy	GLikely benign
Select item 2806775	NM_000487.6(ARSA):c.1387C>T (p.Leu463=)	ARSA	Single nucleotide variant (synonymous variant)	Metachromatic leukodystrophy	GLikely benign
Select item 2806354	NM_000487.6(ARSA):c.855-12C>A	ARSA	Single nucleotide variant (intron variant)	Metachromatic leukodystrophy	GLikely benign
Select item 2806292	NM_000487.6(ARSA):c.1329G>A (p.Leu443=)	ARSA	Single nucleotide variant (synonymous variant)	Metachromatic leukodystrophy	GLikely benign
Select item 2800551	NM_000487.6(ARSA):c.224+9G>A	ARSA	Single nucleotide variant (intron variant)	Metachromatic leukodystrophy	GLikely benign
Select item 2798956	NM_000487.6(ARSA):c.928G>T (p.Gly310Cys)	ARSA (G310C +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GLikely pathogenic
Select item 2798785	NM_000487.6(ARSA):c.1314_1315del (p.Asn440fs)	ARSA (N354fs +1 more)	Deletion (frameshift variant)	Metachromatic leukodystrophy	GPathogenic
Select item 2795507	NM_000487.6(ARSA):c.916A>G (p.Thr306Ala)	ARSA (T220A +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GLikely pathogenic
Select item 2794247	NM_000487.6(ARSA):c.465+13C>A	ARSA	Single nucleotide variant (intron variant)	Metachromatic leukodystrophy	GLikely benign
Select item 2794090	NM_000487.6(ARSA):c.475C>T (p.Gln159Ter)	ARSA (Q159* +1 more)	Single nucleotide variant (nonsense)	Metachromatic leukodystrophy	GPathogenic
Select item 2793834	NM_000487.6(ARSA):c.580C>T (p.Pro194Ser)	ARSA (P108S +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GLikely pathogenic
Select item 2790274	NM_000487.6(ARSA):c.1176G>A (p.Arg392=)	ARSA	Single nucleotide variant (synonymous variant)	Metachromatic leukodystrophy	GLikely benign
Select item 2787850	NM_000487.6(ARSA):c.685-5C>G	ARSA	Single nucleotide variant (intron variant)	Metachromatic leukodystrophy	GLikely benign
Select item 2786052	NM_000487.6(ARSA):c.126G>A (p.Gly42=)	ARSA	Single nucleotide variant (synonymous variant +1 more)	Metachromatic leukodystrophy	GLikely benign
Select item 2780790	NM_000487.6(ARSA):c.1264_1265del (p.Leu422fs)	ARSA (L336fs +1 more)	Microsatellite (frameshift variant)	Metachromatic leukodystrophy	GPathogenic

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