"GeneDx"[submitter] AND "ARSB"[gene] - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic
Select item 354301	NM_000046.5(ARSB):c.*202A>G	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6 +1 more	GBenign
Select item 354302	NM_000046.5(ARSB):c.*60G>A	ARSB	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 418018	NM_000046.5(ARSB):c.1449A>T (p.Glu483Asp)	ARSB (E483D)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6 +1 more	GPathogenic
Select item 354307	NM_000046.5(ARSB):c.1362G>A (p.Pro454=)	ARSB	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1271472	NM_000046.5(ARSB):c.1337-32C>G	ARSB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264760	NM_000046.5(ARSB):c.1337-217C>T	ARSB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 559701	NM_000046.5(ARSB):c.1334C>T (p.Pro445Leu)	ARSB (P445L)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6 +1 more	GConflicting classifications of pathogenicity
Select item 379809	NM_000046.5(ARSB):c.1325C>T (p.Thr442Met)	ARSB (T442M)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6 +1 more	GPathogenic/Likely pathogenic
Select item 496788	NM_000046.5(ARSB):c.1214-32T>C	ARSB	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1263854	NM_000046.5(ARSB):c.1213+23505T>C	ARSB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1215602	NM_000046.5(ARSB):c.1213+23022G>T	ARSB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1281004	NM_000046.5(ARSB):c.1213+22974C>T	ARSB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282280	NM_000046.5(ARSB):c.1213+210_1213+212del	ARSB	Deletion (intron variant)	not provided	GBenign
Select item 1210521	NM_000046.5(ARSB):c.1213+149C>G	ARSB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 92354	NM_000046.5(ARSB):c.1191G>A (p.Pro397=)	ARSB	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6 +2 more	GBenign
Select item 886	NM_000046.5(ARSB):c.1178A>C (p.His393Pro)	ARSB (H393P)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6 +1 more	GPathogenic
Select item 92352	NM_000046.5(ARSB):c.1151G>A (p.Ser384Asn)	ARSB (S384N)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 558773	NM_000046.5(ARSB):c.1143-27A>C	ARSB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1204110	NM_000046.5(ARSB):c.1143-263A>G	ARSB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680476	NM_000046.5(ARSB):c.1142+233C>T	ARSB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269163	NM_000046.5(ARSB):c.1142+138C>T	ARSB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 92351	NM_000046.5(ARSB):c.1126G>A (p.Val376Met)	ARSB (V376M)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 92350	NM_000046.5(ARSB):c.1072G>A (p.Val358Met)	ARSB (V358M)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 527328	NM_000046.5(ARSB):c.1068A>T (p.Thr356=)	ARSB	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 559669	NM_000046.5(ARSB):c.1052C>T (p.Ser351Phe)	ARSB (S351F)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6 +1 more	GLikely pathogenic
Select item 92357	NM_000046.5(ARSB):c.972A>G (p.Gly324=)	ARSB	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 430162	NM_000046.5(ARSB):c.960C>G (p.Ser320Arg)	ARSB (S320R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 833527	NM_000046.5(ARSB):c.914C>T (p.Thr305Ile)	ARSB (T305I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 680475	NM_000046.5(ARSB):c.899-200A>G	ARSB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2580581	NM_000046.5(ARSB):c.880G>A (p.Val294Met)	ARSB (V294M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 488822	NM_000046.5(ARSB):c.753C>G (p.Tyr251Ter)	ARSB (Y251*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis type 6 +1 more	GPathogenic
Select item 254740	NM_000046.5(ARSB):c.691-22T>C	ARSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6 +2 more	GBenign
Select item 1245968	NM_000046.5(ARSB):c.691-171_691-168del	ARSB	Microsatellite (intron variant)	not provided	GBenign
Select item 1225729	NM_000046.5(ARSB):c.691-186G>A	ARSB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680528	NM_000046.5(ARSB):c.690+271T>G	ARSB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256810	NM_000046.5(ARSB):c.690+136A>G	ARSB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 527327	NM_000046.5(ARSB):c.647C>T (p.Thr216Ile)	ARSB (T216I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 885	NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys)	ARSB (Y210C)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6 +2 more	GPathogenic
Select item 488679	NM_000046.5(ARSB):c.571C>T (p.Arg191Ter)	ARSB (R191*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis type 6 +1 more	GPathogenic
Select item 1293779	NM_000046.5(ARSB):c.500-229G>A	ARSB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280435	NM_000046.5(ARSB):c.500-251del	ARSB	Deletion (intron variant)	not provided	GBenign
Select item 1245456	NM_000046.5(ARSB):c.500-255A>T	ARSB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680527	NM_000046.5(ARSB):c.499+160A>G	ARSB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680526	NM_000046.5(ARSB):c.499+145G>C	ARSB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 496789	NM_000046.5(ARSB):c.454C>T (p.Arg152Trp)	ARSB (R152W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 558775	NM_000046.5(ARSB):c.317G>A (p.Arg106His)	ARSB (R106H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 450885	NM_000046.5(ARSB):c.317G>C (p.Arg106Pro)	ARSB (R106P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 254739	NM_000046.5(ARSB):c.313-26T>C	ARSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6 +2 more	GBenign
Select item 682478	NM_000046.5(ARSB):c.313-77G>A	ARSB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682477	NM_000046.5(ARSB):c.313-81G>A	ARSB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680556	NM_000046.5(ARSB):c.313-286del	ARSB	Deletion (intron variant)	not provided	GBenign
Select item 1234016	NM_000046.5(ARSB):c.312+304C>T	ARSB, LOC129994126	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224069	NM_000046.5(ARSB):c.312+229C>A	ARSB, LOC129994126	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205633	NM_000046.5(ARSB):c.312+212C>T	ARSB, LOC129994126	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235740	NM_000046.5(ARSB):c.312+167G>A	ARSB, LOC129994126	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261253	NM_000046.5(ARSB):c.312+163G>T	ARSB, LOC129994126	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209128	NM_000046.5(ARSB):c.312+57G>C	ARSB, LOC129994126	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 418017	NM_000046.5(ARSB):c.200T>A (p.Ile67Asn)	LOC129994126, ARSB (I67N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 559730	NM_000046.5(ARSB):c.160G>A (p.Asp54Asn)	ARSB, LOC129994126 (D54N)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6 +1 more	GPathogenic/Likely pathogenic
Select item 453065	NM_000046.5(ARSB):c.123_139dup (p.Leu47fs)	LOC129994126, ARSB (L47fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 193036	NM_000046.5(ARSB):c.98C>T (p.Ala33Val)	ARSB, LOC129994126 (A33V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 354319	NM_000046.4(ARSB):c.-246C>T	ARSB	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 354320	NM_000046.4(ARSB):c.-265G>A	ARSB	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 354323	NM_000046.4(ARSB):c.-302A>G	ARSB	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 354324	NM_000046.4(ARSB):c.-322dup	ARSB	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 354326	NM_000046.4(ARSB):c.-410_-407delCTAA	ARSB	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 354328	NM_000046.3(ARSB):c.-564A>G	ARSB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 354335	NM_000046.3(ARSB):c.-958A>G	ARSB	Single nucleotide variant	not provided +1 more	GBenign/Likely benign
Select item 354338	NM_000046.3(ARSB):c.-1178A>G	ARSB	Single nucleotide variant	not provided +1 more	GBenign
Select item 1215135	NC_000005.10:g.78986791G>A	ARSB	Single nucleotide variant	not provided	GLikely benign
Select item 680473	NM_000046.3(ARSB):c.-1599C>T	ARSB	Single nucleotide variant	not provided	GBenign

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Items: 72