SULF1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 59787	GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3	ADHFE1, ARFGEF1 +421 more	Copy number gain	See cases	GPathogenic
Select item 59788	GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3	ADHFE1, ARFGEF1 +417 more	Copy number gain	See cases	GPathogenic
Select item 60364	GRCh38/hg38 8q12.3-21.11(chr8:62230636-73227786)x1	ADHFE1, ARFGEF1 +228 more	Copy number loss	See cases	GPathogenic
Select item 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000591, LOC130000592 +470 more	Copy number gain	See cases	GPathogenic
Select item 148965	GRCh38/hg38 8q13.1-21.13(chr8:66633845-80100089)x3	ARFGEF1, ARFGEF1-DT +245 more	Copy number gain	See cases	GPathogenic
Select item 57153	GRCh38/hg38 8q13.2-13.3(chr8:68488015-71476177)x1	C8orf34, EYA1 +53 more	Copy number loss	See cases	GPathogenic
Select item 149198	GRCh38/hg38 8q13.2-13.3(chr8:68987835-71663466)x1	EYA1, LACTB2 +49 more	Copy number loss	See cases	GPathogenic
Select item 145425	GRCh38/hg38 8q13.2-13.3(chr8:68987881-71640028)x1	EYA1, LACTB2 +49 more	Copy number loss	See cases	GPathogenic
Select item 1901937	NM_001128205.2(SULF1):c.5A>G (p.Lys2Arg)	SULF1 (K2R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2491991	NM_001128205.2(SULF1):c.11C>T (p.Ser4Phe)	SULF1 (S4F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2174594	NM_001128205.2(SULF1):c.21T>C (p.Ala7=)	SULF1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1952510	NM_001128205.2(SULF1):c.56G>A (p.Gly19Glu)	SULF1 (G19E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1405814	NM_001128205.2(SULF1):c.62T>A (p.Leu21His)	SULF1 (L21H)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1485720	NM_001128205.2(SULF1):c.68C>A (p.Ser23Ter)	SULF1 (S23*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 502496	NM_001128205.2(SULF1):c.68C>T (p.Ser23Leu)	SULF1 (S23L)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1642779	NM_001128205.2(SULF1):c.69G>A (p.Ser23=)	SULF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1921893	NM_001128205.2(SULF1):c.76A>G (p.Arg26Gly)	SULF1 (R26G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1908885	NM_001128205.2(SULF1):c.80C>T (p.Ser27Phe)	SULF1 (S27F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1475976	NM_001128205.2(SULF1):c.113G>A (p.Arg38Gln)	SULF1 (R38Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1562333	NM_001128205.2(SULF1):c.114A>C (p.Arg38=)	SULF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2003060	NM_001128205.2(SULF1):c.120C>T (p.Asn40=)	SULF1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3021336	NM_001128205.2(SULF1):c.125G>A (p.Arg42Gln)	SULF1 (R42Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2544938	NM_001128205.2(SULF1):c.151G>A (p.Asp51Asn)	SULF1 (D51N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2975534	NM_001128205.2(SULF1):c.173-11G>A	SULF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1358569	NM_001128205.2(SULF1):c.181C>A (p.Gln61Lys)	SULF1 (Q61K)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2121439	NM_001128205.2(SULF1):c.189G>C (p.Met63Ile)	SULF1 (M1I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1437667	NM_001128205.2(SULF1):c.197C>T (p.Thr66Met)	SULF1 (T66M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2420627	NM_001128205.2(SULF1):c.198G>A (p.Thr66=)	SULF1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2872714	NM_001128205.2(SULF1):c.223del (p.Ala75fs)	SULF1 (A75fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 2720763	NM_001128205.2(SULF1):c.219G>A (p.Gly73=)	SULF1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2060257	NM_001128205.2(SULF1):c.219G>T (p.Gly73=)	SULF1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1529465	NM_001128205.2(SULF1):c.219G>C (p.Gly73=)	SULF1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2714765	NM_001128205.2(SULF1):c.223G>A (p.Ala75Thr)	SULF1 (A75T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2001114	NM_001128205.2(SULF1):c.235A>G (p.Asn79Asp)	SULF1 (N17D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 780758	NM_001128205.2(SULF1):c.267G>A (p.Pro89=)	SULF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2331189	NM_001128205.2(SULF1):c.272G>A (p.Arg91Gln)	SULF1 (R29Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3172004	NM_001128205.2(SULF1):c.280A>T (p.Met94Leu)	SULF1 (M94L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1469495	NM_001128205.2(SULF1):c.282G>A (p.Met94Ile)	SULF1 (M94I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1583691	NM_001128205.2(SULF1):c.288C>T (p.Thr96=)	SULF1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2090783	NM_001128205.2(SULF1):c.304A>C (p.Asn102His)	SULF1 (N102H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1363843	NM_001128205.2(SULF1):c.311A>G (p.Asn104Ser)	SULF1 (N104S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1641989	NM_001128205.2(SULF1):c.327C>T (p.Asn109=)	SULF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2275451	NM_001128205.2(SULF1):c.328G>A (p.Glu110Lys)	SULF1 (E48K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2693080	NM_001128205.2(SULF1):c.335G>A (p.Cys112Tyr)	SULF1 (C50Y +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1383251	NM_001128205.2(SULF1):c.343C>G (p.Pro115Ala)	SULF1 (P115A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1651552	NM_001128205.2(SULF1):c.345C>T (p.Pro115=)	SULF1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1667151	NM_001128205.2(SULF1):c.348G>A (p.Ser116=)	SULF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1385469	NM_001128205.2(SULF1):c.354G>A (p.Gln118=)	SULF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 499133	NM_001128205.2(SULF1):c.364G>T (p.Glu122Ter)	SULF1 (E122*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 283835	NM_001128205.2(SULF1):c.370C>T (p.Arg124Trp)	SULF1 (R124W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2876342	NM_001128205.2(SULF1):c.371G>A (p.Arg124Gln)	SULF1 (R124Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3172005	NM_001128205.2(SULF1):c.397A>G (p.Thr133Ala)	SULF1 (T133A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1911628	NM_001128205.2(SULF1):c.412+13G>A	SULF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879712	NM_001128205.2(SULF1):c.412+19A>T	SULF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1278079	NM_001128205.2(SULF1):c.413-91G>A	SULF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1579895	NM_001128205.2(SULF1):c.414C>A (p.Ala138=)	SULF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2859972	NM_001128205.2(SULF1):c.437A>G (p.Glu146Gly)	SULF1 (E84G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2284799	NM_001128205.2(SULF1):c.452A>G (p.Tyr151Cys)	SULF1 (Y89C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2073208	NM_001128205.2(SULF1):c.453C>T (p.Tyr151=)	SULF1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1948742	NM_001128205.2(SULF1):c.458C>A (p.Pro153His)	SULF1 (P153H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1517063	NM_001128205.2(SULF1):c.458C>T (p.Pro153Leu)	SULF1 (P153L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1389095	NM_001128205.2(SULF1):c.460C>G (p.Pro154Ala)	SULF1 (P154A)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2896068	NM_001128205.2(SULF1):c.462T>C (p.Pro154=)	SULF1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2973933	NM_001128205.2(SULF1):c.470G>A (p.Arg157Gln)	SULF1 (R157Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1914092	NM_001128205.2(SULF1):c.470G>C (p.Arg157Pro)	SULF1 (R157P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1461433	NM_001128205.2(SULF1):c.489C>G (p.Ile163Met)	SULF1 (I163M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2063058	NM_001128205.2(SULF1):c.500G>A (p.Arg167His)	SULF1 (R105H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1665300	NM_001128205.2(SULF1):c.522T>C (p.Cys174=)	SULF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1442857	NM_001128205.2(SULF1):c.523C>T (p.Arg175Cys)	SULF1 (R175C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3172006	NM_001128205.2(SULF1):c.524G>A (p.Arg175His)	SULF1 (R175H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 221945	NM_001128205.2(SULF1):c.529G>A (p.Gly177Ser)	SULF1 (G177S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1947692	NM_001128205.2(SULF1):c.545A>G (p.His182Arg)	SULF1 (H182R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3323577	NM_001128205.2(SULF1):c.553G>C (p.Asp185His)	SULF1 (D123H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2972661	NM_001128205.2(SULF1):c.554A>C (p.Asp185Ala)	SULF1 (I10L +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2491648	NM_001128205.2(SULF1):c.559G>A (p.Ala187Thr)	SULF1 (A187T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2847902	NM_001128205.2(SULF1):c.564+5T>C	SULF1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1261185	NM_001128205.2(SULF1):c.564+165T>C	SULF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1567786	NM_001128205.2(SULF1):c.565-20del	SULF1	Deletion (intron variant)	not provided	GLikely benign
Select item 1900151	NM_001128205.2(SULF1):c.565-12T>C	SULF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000023	NM_001128205.2(SULF1):c.592G>A (p.Glu198Lys)	SULF1 (E136K +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2130833	NM_001128205.2(SULF1):c.599T>G (p.Ile200Ser)	SULF1 (I138S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2960968	NM_001128205.2(SULF1):c.614T>C (p.Met205Thr)	SULF1 (M143T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1903716	NM_001128205.2(SULF1):c.631C>T (p.Pro211Ser)	SULF1 (P211S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2049025	NM_001128205.2(SULF1):c.637A>G (p.Arg213Gly)	SULF1 (R151G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2182059	NM_001128205.2(SULF1):c.639G>A (p.Arg213=)	SULF1	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 1381523	NM_001128205.2(SULF1):c.641C>T (p.Pro214Leu)	SULF1 (P214L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2836538	NM_001128205.2(SULF1):c.643G>C (p.Val215Leu)	SULF1 (V153L +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3323580	NM_001128205.2(SULF1):c.651G>A (p.Met217Ile)	SULF1 (M217I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2086490	NM_001128205.2(SULF1):c.654G>A (p.Val218=)	SULF1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1567391	NM_001128205.2(SULF1):c.664G>A (p.Ala222Thr)	SULF1 (A222T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 2681570	NM_001128205.2(SULF1):c.668C>T (p.Ala223Val)	SULF1 (A161V +2 more)	Single nucleotide variant (missense variant +2 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 498523	NM_001128205.2(SULF1):c.669G>T (p.Ala223=)	SULF1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 2053958	NM_001128205.2(SULF1):c.672C>T (p.Pro224=)	SULF1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign

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