Related gene-specific medical variations for Gene (Select 285362) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 154

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246854	NC_000003.11:g.(?_4508657)_(4508905_?)del	SUMF1	Deletion	Multiple sulfatase deficiency	GLikely pathogenic
Select item 3246853	NC_000003.11:g.(?_4452529)_(4461850_?)dup	SUMF1	Duplication	Multiple sulfatase deficiency	GLikely pathogenic
Select item 3246850	NC_000003.11:g.(?_4458792)_(4491044_?)del	SUMF1	Deletion	Multiple sulfatase deficiency	GPathogenic
Select item 3246849	NC_000003.11:g.(?_4403828)_(4403958_?)del	SUMF1	Deletion	Multiple sulfatase deficiency	GPathogenic
Select item 3246848	NC_000003.11:g.(?_4508640)_(4508929_?)del	SUMF1	Deletion	Multiple sulfatase deficiency	GPathogenic
Select item 3246847	NC_000003.11:g.(?_4403828)_(4508929_?)del	SUMF1	Deletion	Multiple sulfatase deficiency	GPathogenic
Select item 3172094	NM_182760.4(SUMF1):c.244G>A (p.Gly82Arg)	LOC129936056, SUMF1 (G82R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160709	NM_006515.4(SETMAR):c.220G>A (p.Gly74Arg)	SETMAR, SUMF1 (G74R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3160708	NM_006515.4(SETMAR):c.124T>G (p.Trp42Gly)	SETMAR, SUMF1 (W42G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3160707	NM_006515.4(SETMAR):c.115G>A (p.Val39Met)	SETMAR, SUMF1 (V39M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3065443	NM_182760.4(SUMF1):c.699C>G (p.Tyr233Ter)	SUMF1 (Y208* +1 more)	Single nucleotide variant (nonsense)	Multiple sulfatase deficiency	GUncertain significance
Select item 3065300	NM_182760.4(SUMF1):c.868G>C (p.Gly290Arg)	SUMF1 (G265R +1 more)	Single nucleotide variant (missense variant)	Multiple sulfatase deficiency	GLikely pathogenic
Select item 3018302	NM_182760.4(SUMF1):c.234C>T (p.Gly78=)	LOC129936056, SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2968002	NM_182760.4(SUMF1):c.150C>T (p.Cys50=)	LOC129936056, SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2893418	NM_182760.4(SUMF1):c.103C>T (p.Gln35Ter)	LOC129936056, SUMF1 (Q35*)	Single nucleotide variant (nonsense)	Multiple sulfatase deficiency	GPathogenic
Select item 2876405	NM_182760.4(SUMF1):c.270+5_270+6dup	LOC129936056, SUMF1	Duplication (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2838116	NM_182760.4(SUMF1):c.111C>G (p.Ala37=)	LOC129936056, SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2815732	NM_182760.4(SUMF1):c.180C>A (p.Ala60=)	LOC129936056, SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2808494	NM_182760.4(SUMF1):c.166del (p.Gln56fs)	LOC129936056, SUMF1 (Q56fs)	Deletion (frameshift variant)	Multiple sulfatase deficiency	GPathogenic
Select item 2798095	NM_182760.4(SUMF1):c.198C>T (p.Ala66=)	LOC129936056, SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GBenign
Select item 2778440	NM_182760.4(SUMF1):c.162G>T (p.Thr54=)	LOC129936056, SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2759355	NM_182760.4(SUMF1):c.250_251del (p.Arg84fs)	LOC129936056, SUMF1 (R84fs)	Deletion (frameshift variant)	Multiple sulfatase deficiency	GPathogenic
Select item 2728902	NM_182760.4(SUMF1):c.141G>A (p.Ala47=)	LOC129936056, SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2725466	NM_182760.4(SUMF1):c.231G>A (p.Pro77=)	SUMF1, LOC129936056	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2700697	NM_182760.4(SUMF1):c.247G>T (p.Glu83Ter)	LOC129936056, SUMF1 (E83*)	Single nucleotide variant (nonsense)	Multiple sulfatase deficiency	GPathogenic
Select item 2699429	NM_182760.4(SUMF1):c.132G>A (p.Gly44=)	LOC129936056, SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2694997	NM_182760.4(SUMF1):c.180C>G (p.Ala60=)	LOC129936056, SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2653451	NM_006515.4(SETMAR):c.1263C>T (p.Ile421=)	SETMAR, SUMF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653450	NM_006515.4(SETMAR):c.1227A>G (p.Pro409=)	SETMAR, SUMF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653449	NM_006515.4(SETMAR):c.840T>C (p.His280=)	SETMAR, SUMF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2621831	NM_006515.4(SETMAR):c.497G>C (p.Cys166Ser)	SETMAR, SUMF1 (C166S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608522	NM_006515.4(SETMAR):c.239C>T (p.Thr80Ile)	SETMAR, SUMF1 (T80I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2607395	NM_006515.4(SETMAR):c.1012A>G (p.Thr338Ala)	SETMAR, SUMF1 (T338A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605275	NM_006515.4(SETMAR):c.67G>A (p.Ala23Thr)	SETMAR, SUMF1 (A23T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536843	NM_006515.4(SETMAR):c.763G>A (p.Glu255Lys)	SETMAR, SUMF1 (E255K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532231	NM_006515.4(SETMAR):c.23C>G (p.Thr8Arg)	SETMAR, SUMF1 (T8R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524808	NM_006515.4(SETMAR):c.707G>A (p.Arg236Gln)	SETMAR, SUMF1 (R236Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519488	NM_182760.4(SUMF1):c.202C>G (p.His68Asp)	LOC129936056, SUMF1 (H68D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488782	NM_006515.4(SETMAR):c.1009T>A (p.Leu337Met)	SETMAR, SUMF1 (L81M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2413345	NM_182760.4(SUMF1):c.237C>T (p.Pro79=)	LOC129936056, SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2405805	NM_006515.4(SETMAR):c.28C>T (p.Arg10Trp)	SETMAR, SUMF1 (R10W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403619	NM_006515.4(SETMAR):c.899T>A (p.Phe300Tyr)	SETMAR, SUMF1 (F300Y)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2401031	NM_006515.4(SETMAR):c.460C>T (p.Arg154Cys)	SETMAR, SUMF1 (R154C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2383894	NM_006515.4(SETMAR):c.533T>C (p.Val178Ala)	SETMAR, SUMF1 (V178A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376612	NM_006515.4(SETMAR):c.839A>T (p.His280Leu)	SETMAR, SUMF1 (H280L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358953	NM_006515.4(SETMAR):c.116T>G (p.Val39Gly)	SETMAR, SUMF1 (W11G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348386	NM_006515.4(SETMAR):c.43G>A (p.Ala15Thr)	SETMAR, SUMF1 (A15T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340603	NM_182760.4(SUMF1):c.151G>T (p.Gly51Cys)	LOC129936056, SUMF1 (G51C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328643	NM_006515.4(SETMAR):c.967A>C (p.Met323Leu)	SETMAR, SUMF1 (M323L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322478	NM_182760.4(SUMF1):c.182A>G (p.His61Arg)	LOC129936056, SUMF1 (H61R)	Single nucleotide variant (missense variant)	Multiple sulfatase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2316333	NM_006515.4(SETMAR):c.192C>G (p.Asp64Glu)	SETMAR, SUMF1 (D64E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2304213	NM_006515.4(SETMAR):c.922G>A (p.Val308Ile)	SETMAR, SUMF1 (V169I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270482	NM_006515.4(SETMAR):c.742G>A (p.Ala248Thr)	SETMAR, SUMF1 (A248T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265458	NM_006515.4(SETMAR):c.842G>A (p.Gly281Glu)	SETMAR, SUMF1 (G281E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238235	NM_006515.4(SETMAR):c.479C>T (p.Pro160Leu)	SETMAR, SUMF1 (R50* +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2232093	NM_182760.4(SUMF1):c.146C>A (p.Ser49Tyr)	LOC129936056, SUMF1 (S49Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230214	NM_006515.4(SETMAR):c.151T>G (p.Phe51Val)	SETMAR, SUMF1 (F51V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2204532	NM_006515.4(SETMAR):c.433A>G (p.Lys145Glu)	SETMAR, SUMF1 (K145E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2201883	NM_182760.4(SUMF1):c.197C>T (p.Ala66Val)	LOC129936056, SUMF1 (A66V)	Single nucleotide variant (missense variant)	Multiple sulfatase deficiency	GUncertain significance
Select item 2196001	NM_182760.4(SUMF1):c.196G>A (p.Ala66Thr)	LOC129936056, SUMF1 (A66T)	Single nucleotide variant (missense variant)	Multiple sulfatase deficiency	GBenign
Select item 2181086	NM_182760.4(SUMF1):c.237C>A (p.Pro79=)	LOC129936056, SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2165879	NM_182760.4(SUMF1):c.245G>A (p.Gly82Glu)	LOC129936056, SUMF1 (G82E)	Single nucleotide variant (missense variant)	Multiple sulfatase deficiency	GUncertain significance
Select item 2146391	NM_182760.4(SUMF1):c.268A>G (p.Lys90Glu)	LOC129936056, SUMF1 (K90E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2141994	NM_182760.4(SUMF1):c.218A>G (p.Glu73Gly)	LOC129936056, SUMF1 (E73G)	Single nucleotide variant (missense variant)	Multiple sulfatase deficiency	GUncertain significance
Select item 2120169	NM_182760.4(SUMF1):c.114G>A (p.Gly38=)	LOC129936056, SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2095257	NM_182760.4(SUMF1):c.252G>A (p.Arg84=)	LOC129936056, SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2058277	NM_182760.4(SUMF1):c.193G>A (p.Ala65Thr)	LOC129936056, SUMF1 (A65T)	Single nucleotide variant (missense variant)	Multiple sulfatase deficiency	GUncertain significance
Select item 2053505	NM_182760.4(SUMF1):c.241C>G (p.Pro81Ala)	SUMF1, LOC129936056 (P81A)	Single nucleotide variant (missense variant)	Multiple sulfatase deficiency	GUncertain significance
Select item 2051905	NM_182760.4(SUMF1):c.206G>C (p.Arg69Pro)	LOC129936056, SUMF1 (R69P)	Single nucleotide variant (missense variant)	Multiple sulfatase deficiency +2 more	GUncertain significance
Select item 2032625	NM_182760.4(SUMF1):c.164_170del (p.Pro55fs)	LOC129936056, SUMF1 (P55fs)	Deletion (frameshift variant)	Multiple sulfatase deficiency	GPathogenic
Select item 2030259	NM_182760.4(SUMF1):c.111C>T (p.Ala37=)	LOC129936056, SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2025505	NM_182760.4(SUMF1):c.255A>G (p.Gln85=)	LOC129936056, SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2019954	NM_182760.4(SUMF1):c.192G>T (p.Ser64=)	LOC129936056, SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 1986766	NM_182760.4(SUMF1):c.120T>A (p.Gly40=)	LOC129936056, SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 1984958	NM_182760.4(SUMF1):c.108G>C (p.Glu36Asp)	LOC129936056, SUMF1 (E36D)	Single nucleotide variant (missense variant)	Multiple sulfatase deficiency	GUncertain significance
Select item 1981099	NM_182760.4(SUMF1):c.257T>A (p.Leu86His)	LOC129936056, SUMF1 (L86H)	Single nucleotide variant (missense variant)	Multiple sulfatase deficiency	GUncertain significance
Select item 1949412	NM_182760.4(SUMF1):c.149G>C (p.Cys50Ser)	LOC129936056, SUMF1 (C50S)	Single nucleotide variant (missense variant)	Multiple sulfatase deficiency +1 more	GUncertain significance
Select item 1944283	NM_182760.4(SUMF1):c.173C>G (p.Pro58Arg)	LOC129936056, SUMF1 (P58R)	Single nucleotide variant (missense variant)	Multiple sulfatase deficiency	GUncertain significance
Select item 1940168	NM_182760.4(SUMF1):c.179C>A (p.Ala60Asp)	LOC129936056, SUMF1 (A60D)	Single nucleotide variant (missense variant)	Multiple sulfatase deficiency	GBenign
Select item 1925248	NM_182760.4(SUMF1):c.236C>A (p.Pro79His)	LOC129936056, SUMF1 (P79H)	Single nucleotide variant (missense variant)	Multiple sulfatase deficiency	GUncertain significance
Select item 1708401	NM_182760.4(SUMF1):c.168G>C (p.Gln56His)	LOC129936056, SUMF1 (Q56H)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1676503	NM_182760.4(SUMF1):c.416T>G (p.Phe139Cys)	SUMF1 (F139C)	Single nucleotide variant	Multiple sulfatase deficiency	GLikely pathogenic
Select item 1674521	NM_182760.4(SUMF1):c.117C>G (p.Thr39=)	LOC129936056, SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 1665173	NM_182760.4(SUMF1):c.270+8A>G	LOC129936056, SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 1657009	NM_182760.4(SUMF1):c.267A>G (p.Ser89=)	LOC129936056, SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 1630047	NM_182760.4(SUMF1):c.225C>T (p.Asn75=)	LOC129936056, SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 1612282	NM_182760.4(SUMF1):c.138T>C (p.Leu46=)	LOC129936056, SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 1583087	NM_182760.4(SUMF1):c.231G>C (p.Pro77=)	LOC129936056, SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 1572354	NM_182760.4(SUMF1):c.267A>C (p.Ser89=)	LOC129936056, SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 1535993	NM_182760.4(SUMF1):c.123G>A (p.Ala41=)	LOC129936056, SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 1533883	NM_182760.4(SUMF1):c.261G>T (p.Ala87=)	LOC129936056, SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 1526992	GRCh37/hg19 3p26.1(chr3:4403152-4457537)	SUMF1	Copy number loss	not specified	GUncertain significance
Select item 1519874	NM_182760.4(SUMF1):c.215G>T (p.Arg72Leu)	LOC129936056, SUMF1 (R72L)	Single nucleotide variant (missense variant)	Multiple sulfatase deficiency +2 more	GUncertain significance
Select item 1516381	NM_182760.4(SUMF1):c.251_253dup (p.Arg84dup)	LOC129936056, SUMF1	Duplication (inframe_insertion)	Multiple sulfatase deficiency	GUncertain significance
Select item 1454207	NM_182760.4(SUMF1):c.150C>A (p.Cys50Ter)	LOC129936056, SUMF1 (C50*)	Single nucleotide variant (nonsense)	Multiple sulfatase deficiency	GPathogenic
Select item 1450978	NM_182760.4(SUMF1):c.139G>A (p.Ala47Thr)	LOC129936056, SUMF1 (A47T)	Single nucleotide variant (missense variant)	Multiple sulfatase deficiency	GUncertain significance
Select item 1448417	NM_182760.4(SUMF1):c.170G>A (p.Arg57Gln)	LOC129936056, SUMF1 (R57Q)	Single nucleotide variant (missense variant)	Multiple sulfatase deficiency	GUncertain significance
Select item 1440237	NM_182760.4(SUMF1):c.140C>A (p.Ala47Glu)	LOC129936056, SUMF1 (A47E)	Single nucleotide variant (missense variant)	Multiple sulfatase deficiency	GUncertain significance
Select item 1426755	NM_182760.4(SUMF1):c.122C>T (p.Ala41Val)	LOC129936056, SUMF1 (A41V)	Single nucleotide variant (missense variant)	Multiple sulfatase deficiency	GUncertain significance
Select item 1425472	NM_182760.4(SUMF1):c.150C>G (p.Cys50Trp)	LOC129936056, SUMF1 (C50W)	Single nucleotide variant (missense variant)	Multiple sulfatase deficiency	GUncertain significance

<< First< Prev

Page of 2