SULF2[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065566, LOC130065567 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	LOC125387319, LOC125387320 +1024 more	Copy number gain	See cases	GPathogenic
Select item 2363081	NM_001387048.1(SULF2):c.2474G>A (p.Arg825Gln)	SULF2 (R825Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395225	NM_001387048.1(SULF2):c.2422G>A (p.Val808Ile)	SULF2 (V808I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335130	NM_001387048.1(SULF2):c.2412C>A (p.Asn804Lys)	SULF2 (N804K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231927	NM_001387048.1(SULF2):c.2360A>G (p.Asp787Gly)	SULF2 (D787G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238729	NM_001387048.1(SULF2):c.2347G>A (p.Asp783Asn)	SULF2 (D783N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606492	NM_001387048.1(SULF2):c.2291A>G (p.Asn764Ser)	SULF2 (N764S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366945	NM_001387048.1(SULF2):c.2278A>C (p.Met760Leu)	SULF2 (M760L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336552	NM_001387048.1(SULF2):c.2249C>A (p.Thr750Asn)	SULF2 (T750N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543056	NM_001387048.1(SULF2):c.2224A>T (p.Thr742Ser)	SULF2 (T742S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 756056	NM_001387048.1(SULF2):c.2214G>A (p.Ala738=)	SULF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2303297	NM_001387048.1(SULF2):c.2213C>T (p.Ala738Val)	SULF2 (A738V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471234	NM_001387048.1(SULF2):c.2206C>A (p.Gln736Lys)	SULF2 (Q737K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 770670	NM_001387048.1(SULF2):c.2063G>A (p.Gly688Asp)	SULF2 (G688D +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 781567	NM_001387048.1(SULF2):c.2021G>A (p.Arg674His)	LOC130066021, SULF2 (R674H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2296809	NM_001387048.1(SULF2):c.2016A>T (p.Lys672Asn)	LOC130066021, SULF2 (K672N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543978	NM_001387048.1(SULF2):c.2005A>G (p.Thr669Ala)	LOC130066021, SULF2 (T669A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2330648	NM_001387048.1(SULF2):c.2000A>G (p.Tyr667Cys)	LOC130066021, SULF2 (Y667C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409615	NM_001387048.1(SULF2):c.1996A>G (p.Ser666Gly)	SULF2 (S666G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467999	NM_001387048.1(SULF2):c.1946G>A (p.Arg649Gln)	SULF2 (R650Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391670	NM_001387048.1(SULF2):c.1820A>T (p.Glu607Val)	SULF2 (E608V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 769999	NM_001387048.1(SULF2):c.1805+4A>G	SULF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2284161	NM_001387048.1(SULF2):c.1780G>A (p.Ala594Thr)	SULF2 (A594T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 749579	NM_001387048.1(SULF2):c.1779C>T (p.Ala593=)	SULF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2601116	NM_001387048.1(SULF2):c.1768G>A (p.Asp590Asn)	SULF2 (D590N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373610	NM_001387048.1(SULF2):c.1651G>A (p.Val551Ile)	SULF2 (V551I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 729704	NM_001387048.1(SULF2):c.1635C>T (p.Asp545=)	SULF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2319639	NM_001387048.1(SULF2):c.1569C>G (p.Phe523Leu)	SULF2 (F523L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325935	NM_001387048.1(SULF2):c.1562A>G (p.Lys521Arg)	SULF2 (K521R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230384	NM_001387048.1(SULF2):c.1556G>A (p.Arg519Gln)	SULF2 (R519Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594598	NM_001387048.1(SULF2):c.1555C>T (p.Arg519Trp)	SULF2 (R519W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349586	NM_001387048.1(SULF2):c.1492G>A (p.Gly498Arg)	SULF2 (G498R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295461	NM_001387048.1(SULF2):c.1429T>C (p.Cys477Arg)	SULF2 (C477R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299344	NM_001387048.1(SULF2):c.1425T>G (p.His475Gln)	SULF2 (H475Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278750	NM_001387048.1(SULF2):c.1376G>C (p.Gly459Ala)	SULF2 (G459A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219398	NM_001387048.1(SULF2):c.1322G>A (p.Arg441His)	SULF2 (R441H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220288	NM_001387048.1(SULF2):c.1225C>T (p.Arg409Trp)	SULF2 (R409W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307214	NM_001387048.1(SULF2):c.1211A>T (p.Lys404Met)	SULF2 (K404M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229661	NM_001387048.1(SULF2):c.1175C>T (p.Thr392Met)	SULF2 (T392M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535651	NM_001387048.1(SULF2):c.1033G>A (p.Val345Met)	SULF2 (V345M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530681	NM_001387048.1(SULF2):c.936C>G (p.Ile312Met)	SULF2 (I312M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260637	NM_001387048.1(SULF2):c.924C>G (p.Asp308Glu)	SULF2 (D308E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607262	NM_001387048.1(SULF2):c.922G>A (p.Asp308Asn)	SULF2 (D308N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 777580	NM_001387048.1(SULF2):c.873C>T (p.Asp291=)	SULF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2411903	NM_001387048.1(SULF2):c.724G>A (p.Ala242Thr)	SULF2 (A242T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368254	NM_001387048.1(SULF2):c.654G>A (p.Met218Ile)	SULF2 (M218I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315571	NM_001387048.1(SULF2):c.630G>A (p.Met210Ile)	SULF2 (M210I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358200	NM_001387048.1(SULF2):c.629T>C (p.Met210Thr)	SULF2 (M210T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534097	NM_001387048.1(SULF2):c.593A>G (p.Asn198Ser)	SULF2 (N198S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2652378	NM_001387048.1(SULF2):c.555C>T (p.Ser185=)	SULF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2610837	NM_001387048.1(SULF2):c.550G>A (p.Gly184Ser)	SULF2 (G184S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310561	NM_001387048.1(SULF2):c.410G>A (p.Arg137Gln)	SULF2 (R137Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518772	NM_001387048.1(SULF2):c.385G>A (p.Val129Met)	SULF2 (V129M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241892	NM_001387048.1(SULF2):c.301G>A (p.Val101Ile)	SULF2 (V101I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247399	NM_001387048.1(SULF2):c.192G>A (p.Met64Ile)	SULF2 (M64I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223955	NM_001387048.1(SULF2):c.128G>A (p.Arg43His)	SULF2 (R43H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605624	NM_001387048.1(SULF2):c.116G>T (p.Arg39Leu)	SULF2 (R39L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353735	NM_001387048.1(SULF2):c.80C>T (p.Ser27Leu)	SULF2 (S27L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229162	NM_001387048.1(SULF2):c.68C>T (p.Ser23Leu)	SULF2 (S23L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342010	NM_001387048.1(SULF2):c.19G>A (p.Val7Met)	SULF2 (V7M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1809152	GRCh37/hg19 20q13.12-13.13(chr20:46203730-46521403)x3	NCOA3, SULF2	Copy number gain	not provided	GUncertain significance
Select item 1341001	GRCh37/hg19 20q13.12-13.13(chr20:46147529-46438075)x3	NCOA3, SULF2	Copy number gain	not provided	GUncertain significance
Select item 1330181	GRCh37/hg19 20q13.12-13.13(chr20:42985044-48599046)x1	PREX1, PTGIS +79 more	Copy number loss	Developmental and epileptic encephalopathy, 26	GPathogenic
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	KIF3B, KIZ +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic

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Items: 67