C0023522[trait identifier] AND "Counsyl"[submitter] - ClinVar

Search results

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 371650	NM_000487.6(ARSA):c.1492dup (p.Arg498fs)	ARSA (R498fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 557490	NM_000487.6(ARSA):c.1490_1492del (p.Pro497del)	ARSA (P497del +1 more)	Deletion (inframe_deletion)	Metachromatic leukodystrophy	GUncertain significance
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 371393	NM_000487.6(ARSA):c.1388del (p.Leu463fs)	ARSA (L463fs +1 more)	Deletion (frameshift variant)	Metachromatic leukodystrophy	GLikely pathogenic
Select item 557962	NM_000487.6(ARSA):c.1344dup (p.Gly449fs)	ARSA (G363fs +1 more)	Duplication (frameshift variant)	Metachromatic leukodystrophy	GPathogenic/Likely pathogenic
Select item 493348	NM_000487.6(ARSA):c.1337del (p.Gly446fs)	ARSA (G446fs +1 more)	Deletion (frameshift variant)	Metachromatic leukodystrophy +1 more	GPathogenic/Likely pathogenic
Select item 554172	NM_000487.6(ARSA):c.1323del (p.Asn440_Tyr441insTer)	ARSA	Deletion (nonsense)	Metachromatic leukodystrophy	GLikely pathogenic
Select item 424522	NM_000487.6(ARSA):c.1264del (p.Ser421_Leu422insTer)	ARSA	Deletion (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 553358	NM_000487.6(ARSA):c.1222_1232del (p.Ser408fs)	ARSA (S408fs +1 more)	Deletion (frameshift 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 370834	NM_000487.6(ARSA):c.1210+1G>T	ARSA	Single nucleotide variant (splice donor 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 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 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 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 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 93115	NM_000487.6(ARSA):c.1108-2A>G	ARSA	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
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 371139	NM_000487.6(ARSA):c.1107+1del	ARSA	Deletion (splice donor variant)	Metachromatic leukodystrophy	GPathogenic/Likely pathogenic
Select item 552604	NM_000487.6(ARSA):c.1036del (p.Ala346fs)	ARSA (A346fs +1 more)	Deletion (frameshift variant)	Metachromatic leukodystrophy	GLikely pathogenic
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
Select item 556001	NM_000487.6(ARSA):c.991G>A (p.Glu331Lys)	ARSA (E331K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 93129	NM_000487.6(ARSA):c.991G>T (p.Glu331Ter)	ARSA (E331* +1 more)	Single nucleotide variant (nonsense)	Metachromatic leukodystrophy +1 more	GPathogenic/Likely pathogenic
Select item 93128	NM_000487.6(ARSA):c.986C>T (p.Thr329Ile)	ARSA (T329I +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy +1 more	GPathogenic/Likely pathogenic
Select item 556061	NM_000487.6(ARSA):c.980-2A>C	ARSA	Single nucleotide variant (splice acceptor variant)	Metachromatic leukodystrophy	GLikely pathogenic
Select item 370945	NM_000487.6(ARSA):c.979_979+3del	ARSA	Deletion (splice donor variant)	Metachromatic leukodystrophy	GLikely pathogenic
Select item 188949	NM_000487.6(ARSA):c.979+1G>A	ARSA	Single nucleotide variant (splice donor variant)	Metachromatic leukodystrophy +1 more	GPathogenic/Likely pathogenic
Select item 372303	NM_000487.6(ARSA):c.979G>A (p.Gly327Ser)	ARSA (G327S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 495883	NM_000487.6(ARSA):c.960G>A (p.Trp320Ter)	ARSA (W320* +1 more)	Single nucleotide variant (nonsense)	Metachromatic leukodystrophy	GPathogenic
Select item 68167	NM_000487.6(ARSA):c.946G>A (p.Ala316Thr)	ARSA (A316T +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 68165	NM_000487.6(ARSA):c.938G>A (p.Arg313Gln)	ARSA (R313Q +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy +1 more	GPathogenic/Likely pathogenic
Select item 434394	NM_000487.6(ARSA):c.937C>T (p.Arg313Ter)	ARSA (R313* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 3060	NM_000487.6(ARSA):c.931G>A (p.Gly311Ser)	ARSA (G311S +1 more)	Single nucleotide variant (missense variant)	Abnormality of the nervous system +2 more	GPathogenic/Likely pathogenic
Select item 370626	NM_000487.6(ARSA):c.929del (p.Gly310fs)	ARSA (G224fs +1 more)	Deletion (frameshift variant)	Metachromatic leukodystrophy	GPathogenic/Likely pathogenic
Select item 558283	NM_000487.6(ARSA):c.925dup (p.Glu309fs)	ARSA (E309fs +1 more)	Duplication (frameshift variant)	Metachromatic leukodystrophy	GLikely pathogenic
Select item 68161	NM_000487.6(ARSA):c.922T>C (p.Tyr308His)	ARSA (Y308H +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GConflicting classifications of pathogenicity
Select item 68159	NM_000487.6(ARSA):c.917C>T (p.Thr306Met)	ARSA (T306M +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GPathogenic
Select item 371186	NM_000487.6(ARSA):c.891del (p.Gly298fs)	ARSA (G212fs +1 more)	Deletion (frameshift variant)	Metachromatic leukodystrophy	GLikely pathogenic
Select item 68154	NM_000487.6(ARSA):c.883G>A (p.Gly295Ser)	ARSA (G295S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 558645	NM_000487.6(ARSA):c.877C>T (p.Arg293Ter)	ARSA (R293* +1 more)	Single nucleotide variant (nonsense)	Metachromatic leukodystrophy	GPathogenic/Likely pathogenic
Select item 3077	NM_000487.6(ARSA):c.868C>T (p.Arg290Cys)	ARSA (R290C +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy +1 more	GPathogenic/Likely pathogenic
Select item 68151	NM_000487.6(ARSA):c.847G>T (p.Asp283Tyr)	ARSA (D283Y +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 3075	NM_000487.6(ARSA):c.827C>T (p.Thr276Met)	ARSA (T276M +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy +1 more	GPathogenic/Likely pathogenic
Select item 21187	NM_000487.6(ARSA):c.769G>C (p.Asp257His)	ARSA (D257H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 3091	NM_000487.6(ARSA):c.763G>A (p.Glu255Lys)	ARSA (E255K +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy +1 more	GPathogenic/Likely pathogenic
Select item 552751	NM_000487.6(ARSA):c.758dup (p.Met254fs)	ARSA (M168fs +1 more)	Duplication (frameshift variant)	Metachromatic leukodystrophy	GPathogenic/Likely pathogenic
Select item 68149	NM_000487.6(ARSA):c.746T>C (p.Phe249Ser)	ARSA (F249S +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GPathogenic
Select item 3074	NM_000487.6(ARSA):c.739G>A (p.Gly247Arg)	ARSA (G247R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 68148	NM_000487.6(ARSA):c.737G>A (p.Arg246His)	ARSA (R246H +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy +1 more	GPathogenic/Likely pathogenic
Select item 3073	NM_000487.6(ARSA):c.736C>T (p.Arg246Cys)	ARSA (R246C +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy +1 more	GPathogenic/Likely pathogenic
Select item 557278	NM_000487.6(ARSA):c.684+2dup	ARSA	Duplication (splice donor variant)	Metachromatic leukodystrophy	GUncertain significance
Select item 370284	NM_000487.6(ARSA):c.674_675dup (p.Ala226fs)	ARSA (A140fs +1 more)	Duplication (frameshift variant)	Metachromatic leukodystrophy	GLikely pathogenic
Select item 431088	NM_000487.6(ARSA):c.674A>G (p.Tyr225Cys)	ARSA (Y225C +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GConflicting classifications of pathogenicity
Select item 3070	NM_000487.6(ARSA):c.641C>T (p.Ala214Val)	ARSA (A214V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 556571	NM_000487.6(ARSA):c.622del (p.His208fs)	ARSA (H122fs +1 more)	Deletion (frameshift variant)	Metachromatic leukodystrophy	GPathogenic/Likely pathogenic
Select item 68144	NM_000487.6(ARSA):c.608A>G (p.Tyr203Cys)	ARSA (Y203C +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GPathogenic/Likely pathogenic
Select item 552314	NM_000487.6(ARSA):c.604C>T (p.Arg202Cys)	ARSA (R202C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 370973	NM_000487.6(ARSA):c.545del (p.Pro182fs)	ARSA (P96fs +1 more)	Deletion (frameshift variant)	Metachromatic leukodystrophy	GPathogenic/Likely pathogenic
Select item 557936	NM_000487.6(ARSA):c.542dup (p.Leu183fs)	ARSA (L97fs +1 more)	Duplication (frameshift variant)	Metachromatic leukodystrophy	GPathogenic/Likely pathogenic
Select item 371662	NM_000487.6(ARSA):c.526C>T (p.Gln176Ter)	ARSA (Q176* +1 more)	Single nucleotide variant (nonsense)	Metachromatic leukodystrophy	GPathogenic/Likely pathogenic
Select item 556103	NM_000487.6(ARSA):c.514G>A (p.Gly172Ser)	ARSA (G172S +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GUncertain significance
Select item 3069	NM_000487.6(ARSA):c.511G>A (p.Asp171Asn)	ARSA (D171N +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 371638	NM_000487.6(ARSA):c.495_501del (p.Pro166fs)	ARSA (P166fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 371532	NM_000487.6(ARSA):c.494dup (p.Pro166fs)	ARSA (P80fs +1 more)	Duplication (frameshift variant)	Metachromatic leukodystrophy	GLikely pathogenic
Select item 265461	NM_000487.6(ARSA):c.474C>A (p.Cys158Ter)	ARSA (C158* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 371149	NM_000487.6(ARSA):c.466-2A>G	ARSA	Single nucleotide variant (splice acceptor variant)	Metachromatic leukodystrophy	GLikely pathogenic
Select item 553578	NM_000487.6(ARSA):c.465+2T>A	ARSA	Single nucleotide variant (splice donor variant)	Metachromatic leukodystrophy	GLikely pathogenic
Select item 370738	NM_000487.6(ARSA):c.421C>T (p.Gln141Ter)	ARSA (Q141* +1 more)	Single nucleotide variant (nonsense)	Metachromatic leukodystrophy	GLikely pathogenic
Select item 370305	NM_000487.6(ARSA):c.418dup (p.His140fs)	ARSA (H140fs +1 more)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 370472	NM_000487.6(ARSA):c.418del (p.His140fs)	ARSA (H140fs +1 more)	Deletion (frameshift variant)	Metachromatic leukodystrophy	GConflicting classifications of pathogenicity
Select item 68132	NM_000487.6(ARSA):c.418C>G (p.His140Asp)	ARSA (H140D +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GPathogenic/Likely pathogenic
Select item 3064	NM_000487.6(ARSA):c.413C>T (p.Pro138Leu)	ARSA (P138L +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GConflicting classifications of pathogenicity
Select item 557550	NM_000487.6(ARSA):c.398_409del (p.Glu133_Leu137delinsVal)	ARSA	Deletion (inframe_indel)	Metachromatic leukodystrophy	GUncertain significance
Select item 280950	NM_000487.6(ARSA):c.346C>T (p.Arg116Ter)	ARSA (R116* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 189073	NM_000487.6(ARSA):c.304del (p.Leu102fs)	ARSA (L16fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3053	NM_000487.6(ARSA):c.302G>A (p.Gly101Asp)	ARSA (G101D +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy +1 more	GPathogenic/Likely pathogenic
Select item 554584	NM_000487.6(ARSA):c.295dup (p.Arg99fs)	ARSA (R13fs +1 more)	Duplication (frameshift variant)	Metachromatic leukodystrophy	GPathogenic/Likely pathogenic
Select item 3054	NM_000487.6(ARSA):c.293C>T (p.Ser98Phe)	ARSA (S98F)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 556866	NM_000487.6(ARSA):c.257G>T (p.Arg86Leu)	ARSA (R86L)	Single nucleotide variant (missense variant +1 more)	Metachromatic leukodystrophy	GConflicting classifications of pathogenicity
Select item 556430	NM_000487.6(ARSA):c.251C>T (p.Pro84Leu)	ARSA (P84L)	Single nucleotide variant (missense variant +1 more)	Metachromatic leukodystrophy	GConflicting classifications of pathogenicity
Select item 188976	NM_000487.6(ARSA):c.240dup (p.Gly81fs)	ARSA (G81fs)	Duplication (frameshift variant +1 more)	Metachromatic leukodystrophy	GPathogenic/Likely pathogenic
Select item 370568	NM_000487.6(ARSA):c.227_228insTA (p.Ala77fs)	ARSA (A77fs)	Insertion (frameshift variant +1 more)	Metachromatic leukodystrophy	GLikely pathogenic
Select item 558028	NM_000487.6(ARSA):c.225-2A>G	ARSA	Single nucleotide variant (splice acceptor variant)	Metachromatic leukodystrophy	GLikely pathogenic
Select item 553149	NM_000487.6(ARSA):c.224+1G>A	ARSA	Single nucleotide variant (intron variant +1 more)	Metachromatic leukodystrophy	GLikely pathogenic
Select item 370171	NM_000487.6(ARSA):c.211_212del (p.Cys71fs)	ARSA (C71fs)	Microsatellite (frameshift variant +1 more)	Metachromatic leukodystrophy	GPathogenic/Likely pathogenic
Select item 549909	NM_000487.6(ARSA):c.206_209del (p.Ser69fs)	ARSA (S69fs)	Deletion (frameshift variant +1 more)	Metachromatic leukodystrophy	GLikely pathogenic
Select item 93121	NM_000487.6(ARSA):c.195del (p.Phe64_Tyr65insTer)	ARSA	Deletion (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 557842	NM_000487.6(ARSA):c.185_186dup (p.Asp63fs)	ARSA (D63fs)	Microsatellite (frameshift variant +1 more)	Metachromatic leukodystrophy	GLikely pathogenic
Select item 555715	NM_000487.6(ARSA):c.135C>A (p.Ser45Arg)	ARSA (S45R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 556367	NM_000487.6(ARSA):c.109_126dup (p.Asp37_Gly42dup)	ARSA	Duplication (inframe_insertion +1 more)	Metachromatic leukodystrophy	GUncertain significance
Select item 555003	NM_000487.6(ARSA):c.109_116del (p.Asp37fs)	ARSA (D37fs)	Deletion (frameshift variant +1 more)	Metachromatic leukodystrophy +1 more	GPathogenic/Likely pathogenic
Select item 553386	NM_000487.6(ARSA):c.2T>C (p.Met1Thr)	ARSA (M1T)	Single nucleotide variant (missense variant +2 more)	Metachromatic leukodystrophy	GLikely pathogenic
Select item 554063	NM_000487.6(ARSA):c.-35_-8del	ARSA	Deletion (5 prime UTR variant +2 more)	Metachromatic leukodystrophy	GUncertain significance
Select item 551220	NM_000487.6(ARSA):c.-15A>G	ARSA	Single nucleotide variant (5 prime UTR variant +2 more)	Metachromatic leukodystrophy	GUncertain significance

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Items: 94