LOC129994126[gene] - ClinVar - NCBI

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	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 149681	GRCh38/hg38 5q14.1(chr5:78804361-79620179)x3	ARSB, BHMT +21 more	Copy number gain	See cases	GUncertain significance
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 559767	NM_000046.5(ARSB):c.307_312+147del	ARSB, LOC129994126	Deletion (splice donor variant)	Mucopolysaccharidosis type 6	GPathogenic
Select item 1209128	NM_000046.5(ARSB):c.312+57G>C	ARSB, LOC129994126	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2081455	NM_000046.5(ARSB):c.312+19_312+41del	ARSB, LOC129994126	Deletion (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 1624125	NM_000046.5(ARSB):c.312+19_312+36del	ARSB, LOC129994126	Deletion (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 558776	NM_000046.5(ARSB):c.312+29C>T	ARSB, LOC129994126	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1606428	NM_000046.5(ARSB):c.312+14_312+22del	ARSB, LOC129994126	Deletion (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2893626	NM_000046.5(ARSB):c.312+18C>T	ARSB, LOC129994126	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2828060	NM_000046.5(ARSB):c.312+14_312+18del	ARSB, LOC129994126	Deletion (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 1323936	NM_000046.5(ARSB):c.300_312+18del	ARSB, LOC129994126	Deletion (splice donor variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 2804141	NM_000046.5(ARSB):c.312+8_312+16dup	ARSB, LOC129994126	Duplication (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2746439	NM_000046.5(ARSB):c.312+17C>G	ARSB, LOC129994126	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2728867	NM_000046.5(ARSB):c.312+16G>A	ARSB, LOC129994126	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2813252	NM_000046.5(ARSB):c.312+15C>G	ARSB, LOC129994126	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2199185	NM_000046.5(ARSB):c.312+15del	ARSB, LOC129994126	Deletion (intron variant)	Mucopolysaccharidosis type 6	GBenign
Select item 2915931	NM_000046.5(ARSB):c.312+14C>T	ARSB, LOC129994126	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2705124	NM_000046.5(ARSB):c.312+14C>G	ARSB, LOC129994126	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 1622559	NM_000046.5(ARSB):c.312+14C>A	ARSB, LOC129994126	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2739799	NM_000046.5(ARSB):c.312+12C>T	ARSB, LOC129994126	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 3013577	NM_000046.5(ARSB):c.312+11C>T	ARSB, LOC129994126	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 1643904	NM_000046.5(ARSB):c.312+10G>T	ARSB, LOC129994126	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 1546238	NM_000046.5(ARSB):c.312+9C>A	ARSB, LOC129994126	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 1093852	NM_000046.5(ARSB):c.312+8G>A	ARSB, LOC129994126	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 740323	NM_000046.5(ARSB):c.312+8G>C	ARSB, LOC129994126	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 1619626	NM_000046.5(ARSB):c.312+7G>A	ARSB, LOC129994126	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 970843	NM_000046.5(ARSB):c.312+4C>T	ARSB, LOC129994126	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 2503905	NM_000046.5(ARSB):c.312+2T>G	ARSB, LOC129994126	Single nucleotide variant (splice donor variant)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
Select item 559768	NM_000046.5(ARSB):c.312G>C (p.Gln104His)	ARSB, LOC129994126 (Q104H)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GConflicting classifications of pathogenicity
Select item 952974	NM_000046.5(ARSB):c.310C>T (p.Gln104Ter)	ARSB, LOC129994126 (Q104*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis type 6	GPathogenic
Select item 2142116	NM_000046.5(ARSB):c.309C>T (p.Tyr103=)	ARSB, LOC129994126	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2782970	NM_000046.5(ARSB):c.306C>G (p.Arg102=)	ARSB, LOC129994126	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 559766	NM_000046.5(ARSB):c.305G>A (p.Arg102His)	ARSB, LOC129994126 (R102H)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6 +1 more	GConflicting classifications of pathogenicity
Select item 2694709	NM_000046.5(ARSB):c.304C>A (p.Arg102Ser)	ARSB, LOC129994126 (R102S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1460960	NM_000046.5(ARSB):c.302G>A (p.Gly101Asp)	ARSB, LOC129994126 (G101D)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 1139416	NM_000046.5(ARSB):c.300T>C (p.Thr100=)	ARSB, LOC129994126	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 559765	NM_000046.5(ARSB):c.293T>G (p.Leu98Arg)	ARSB, LOC129994126 (L98R)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
Select item 559764	NM_000046.5(ARSB):c.293T>C (p.Leu98Pro)	ARSB, LOC129994126 (L98P)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 559763	NM_000046.5(ARSB):c.293T>A (p.Leu98Gln)	ARSB, LOC129994126 (L98Q)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 3366756	NM_000046.5(ARSB):c.292C>A (p.Leu98Met)	ARSB, LOC129994126 (L98M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2188067	NM_000046.5(ARSB):c.291G>C (p.Gln97His)	ARSB, LOC129994126 (Q97H)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 266120	NM_000046.5(ARSB):c.290A>G (p.Gln97Arg)	ARSB, LOC129994126 (Q97R)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 1710132	NM_000046.5(ARSB):c.289C>A (p.Gln97Lys)	ARSB, LOC129994126 (Q97K)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GPathogenic
Select item 559762	NM_000046.5(ARSB):c.289C>T (p.Gln97Ter)	ARSB, LOC129994126 (Q97*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
Select item 445293	NM_000046.5(ARSB):c.288C>G (p.Ser96Arg)	ARSB, LOC129994126 (S96R)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6 +1 more	GConflicting classifications of pathogenicity
Select item 2573403	NM_000046.5(ARSB):c.286A>G (p.Ser96Gly)	ARSB, LOC129994126 (S96G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1576798	NM_000046.5(ARSB):c.285G>A (p.Arg95=)	ARSB, LOC129994126	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 1465582	NM_000046.5(ARSB):c.284G>T (p.Arg95Leu)	ARSB, LOC129994126 (R95L)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 884	NM_000046.5(ARSB):c.284G>A (p.Arg95Gln)	ARSB, LOC129994126 (R95Q)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2049133	NM_000046.5(ARSB):c.283C>A (p.Arg95=)	ARSB, LOC129994126	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 1510169	NM_000046.5(ARSB):c.283C>T (p.Arg95Trp)	ARSB, LOC129994126 (R95W)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 1088168	NM_000046.5(ARSB):c.282G>A (p.Ser94=)	ARSB, LOC129994126	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 619299	NM_000046.5(ARSB):c.281C>A (p.Ser94Ter)	ARSB, LOC129994126 (S94*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 445287	NM_000046.5(ARSB):c.281C>T (p.Ser94Leu)	ARSB, LOC129994126 (S94L)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GPathogenic
Select item 1563518	NM_000046.5(ARSB):c.279G>A (p.Pro93=)	ARSB, LOC129994126	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 559761	NM_000046.5(ARSB):c.278C>T (p.Pro93Leu)	ARSB, LOC129994126 (P93L)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 559760	NM_000046.5(ARSB):c.277C>T (p.Pro93Ser)	ARSB, LOC129994126 (P93S)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 1596856	NM_000046.5(ARSB):c.276G>A (p.Thr92=)	ARSB, LOC129994126	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 559759	NM_000046.5(ARSB):c.275C>T (p.Thr92Met)	ARSB, LOC129994126 (T92M)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GConflicting classifications of pathogenicity
Select item 559758	NM_000046.5(ARSB):c.275C>A (p.Thr92Lys)	ARSB, LOC129994126 (T92K)	Single nucleotide variant (missense variant)	ARSB-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 2581446	NM_000046.5(ARSB):c.274A>G (p.Thr92Ala)	ARSB, LOC129994126 (T92A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 559755	NM_000046.5(ARSB):c.270_274del (p.Cys91fs)	ARSB, LOC129994126 (C91fs)	Deletion (frameshift variant)	Mucopolysaccharidosis type 6	GPathogenic
Select item 559757	NM_000046.5(ARSB):c.272G>A (p.Cys91Tyr)	ARSB, LOC129994126 (C91Y)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 2688607	NM_000046.5(ARSB):c.271T>G (p.Cys91Gly)	ARSB, LOC129994126 (C91G)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 559756	NM_000046.5(ARSB):c.271T>C (p.Cys91Arg)	ARSB, LOC129994126 (C91R)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 3068073	NM_000046.5(ARSB):c.269T>C (p.Leu90Pro)	ARSB, LOC129994126 (L90P)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 1647797	NM_000046.5(ARSB):c.267G>A (p.Pro89=)	ARSB, LOC129994126	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 1553114	NM_000046.5(ARSB):c.267G>C (p.Pro89=)	ARSB, LOC129994126	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 1095806	NM_000046.5(ARSB):c.264G>A (p.Gln88=)	ARSB, LOC129994126	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 974862	NM_000046.5(ARSB):c.264G>T (p.Gln88His)	ARSB, LOC129994126 (Q88H)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GPathogenic
Select item 559754	NM_000046.5(ARSB):c.264G>C (p.Gln88His)	ARSB, LOC129994126 (Q88H)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 559753	NM_000046.5(ARSB):c.263dup (p.Pro89fs)	ARSB, LOC129994126 (P89fs)	Duplication (frameshift variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 559752	NM_000046.5(ARSB):c.262C>T (p.Gln88Ter)	ARSB, LOC129994126 (Q88*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis type 6	GPathogenic
Select item 1107913	NM_000046.5(ARSB):c.261G>A (p.Thr87=)	ARSB, LOC129994126	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 559751	NM_000046.5(ARSB):c.260C>G (p.Thr87Arg)	ARSB, LOC129994126 (T87R)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 1323467	NM_000046.5(ARSB):c.253TAC[1] (p.Tyr86del)	ARSB, LOC129994126 (Y86del)	Microsatellite (inframe_deletion)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
Select item 445286	NM_000046.5(ARSB):c.257del (p.Tyr86fs)	ARSB, LOC129994126 (Y86fs)	Deletion (frameshift variant)	Mucopolysaccharidosis type 6	GPathogenic
Select item 2069290	NM_000046.5(ARSB):c.255C>G (p.Tyr85Ter)	ARSB, LOC129994126 (Y85*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis type 6	GPathogenic
Select item 559750	NM_000046.5(ARSB):c.253T>C (p.Tyr85His)	ARSB, LOC129994126 (Y85H)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 559748	NM_000046.5(ARSB):c.247_248del (p.Asp83fs)	ARSB, LOC129994126 (D83fs)	Deletion (frameshift variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 559749	NM_000046.5(ARSB):c.247G>T (p.Asp83Tyr)	ARSB, LOC129994126 (D83Y)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6 +1 more	GConflicting classifications of pathogenicity
Select item 1534230	NM_000046.5(ARSB):c.246G>T (p.Leu82=)	ARSB, LOC129994126	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 559747	NM_000046.5(ARSB):c.246G>A (p.Leu82=)	ARSB, LOC129994126	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GConflicting classifications of pathogenicity
Select item 2169513	NM_000046.5(ARSB):c.245T>C (p.Leu82Pro)	ARSB, LOC129994126 (L82P)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 559746	NM_000046.5(ARSB):c.245del (p.Leu82fs)	ARSB, LOC129994126 (L82fs)	Deletion (frameshift variant)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
Select item 445290	NM_000046.5(ARSB):c.245T>G (p.Leu82Arg)	ARSB, LOC129994126 (L82R)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
Select item 2974536	NM_000046.5(ARSB):c.244C>T (p.Leu82=)	ARSB, LOC129994126	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2093514	NM_000046.5(ARSB):c.244C>G (p.Leu82Val)	ARSB, LOC129994126 (L82V)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 559744	NM_000046.5(ARSB):c.237_243del (p.Val80fs)	ARSB, LOC129994126 (V80fs)	Deletion (frameshift variant)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
Select item 1925046	NM_000046.5(ARSB):c.241C>T (p.Leu81Phe)	ARSB, LOC129994126 (L81F)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 1125934	NM_000046.5(ARSB):c.240G>A (p.Val80=)	ARSB, LOC129994126	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 881	NM_000046.5(ARSB):c.238del (p.Val80fs)	ARSB, LOC129994126 (V80fs)	Deletion (frameshift variant)	Mucopolysaccharidosis type 6	GPathogenic
Select item 559743	NM_000046.5(ARSB):c.236G>A (p.Gly79Glu)	ARSB, LOC129994126 (G79E)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GConflicting classifications of pathogenicity
Select item 2896994	NM_000046.5(ARSB):c.234C>G (p.Gly78=)	ARSB, LOC129994126	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 559742	NM_000046.5(ARSB):c.223_232del (p.Leu75fs)	ARSB, LOC129994126 (L75fs)	Deletion (frameshift variant)	Mucopolysaccharidosis type 6	GLikely pathogenic

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