ClinVar for Gene (Select 6820) - ClinVar

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Links from Gene

Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3172085	NM_177973.2(SULT2B1):c.967C>T (p.Pro323Ser)	SULT2B1 (P323S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3172084	NM_177973.2(SULT2B1):c.943G>A (p.Glu315Lys)	SULT2B1 (E300K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3172083	NM_177973.2(SULT2B1):c.938C>T (p.Pro313Leu)	SULT2B1 (P298L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3172082	NM_177973.2(SULT2B1):c.857C>T (p.Thr286Met)	SULT2B1 (T286M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3172081	NM_177973.2(SULT2B1):c.837C>T (p.Gly279=)	SULT2B1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3172080	NM_177973.2(SULT2B1):c.328G>C (p.Ala110Pro)	SULT2B1 (A110P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3172079	NM_177973.2(SULT2B1):c.278G>A (p.Arg93His)	SULT2B1 (R78H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
Select item 3035680	NM_177973.2(SULT2B1):c.214+10G>A	SULT2B1	Single nucleotide variant (intron variant)	SULT2B1-related condition	GLikely benign
Select item 2976267	NM_177973.2(SULT2B1):c.138C>T (p.Leu46=)	SULT2B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963085	NM_177973.2(SULT2B1):c.215-16C>T	SULT2B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2883596	NM_177973.2(SULT2B1):c.718G>A (p.Val240Ile)	SULT2B1 (V240I +1 more)	Single nucleotide variant (missense variant)	SULT2B1-related condition +1 more	GBenign
Select item 2883545	NM_177973.2(SULT2B1):c.592C>T (p.Arg198Trp)	SULT2B1 (R183W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2865962	NM_177973.2(SULT2B1):c.694C>T (p.Leu232=)	SULT2B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2551146	NM_177973.2(SULT2B1):c.16G>A (p.Glu6Lys)	SULT2B1 (E6K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545499	NM_177973.2(SULT2B1):c.404T>C (p.Phe135Ser)	SULT2B1 (F120S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486446	NM_177973.2(SULT2B1):c.936C>G (p.Asp312Glu)	SULT2B1 (D312E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2416791	NM_177973.2(SULT2B1):c.826+4C>T	SULT2B1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2395311	NM_177973.2(SULT2B1):c.1039T>C (p.Ser347Pro)	SULT2B1 (S347P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2264892	NM_177973.2(SULT2B1):c.13G>A (p.Ala5Thr)	SULT2B1 (A5T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2178014	NM_177973.2(SULT2B1):c.939G>A (p.Pro313=)	SULT2B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2146948	NM_177973.2(SULT2B1):c.802C>T (p.Arg268Cys)	SULT2B1 (R253C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2135708	NM_177973.2(SULT2B1):c.799C>T (p.His267Tyr)	SULT2B1 (H267Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2056152	NM_177973.2(SULT2B1):c.29C>T (p.Pro10Leu)	SULT2B1 (P10L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2047113	NM_177973.2(SULT2B1):c.914C>T (p.Pro305Leu)	SULT2B1 (P305L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2044103	NM_177973.2(SULT2B1):c.904C>G (p.Arg302Gly)	SULT2B1 (R287G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1967337	NM_177973.2(SULT2B1):c.858G>A (p.Thr286=)	SULT2B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1655054	NM_177973.2(SULT2B1):c.689G>A (p.Arg230His)	SULT2B1 (R215H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1613054	NM_177973.2(SULT2B1):c.120C>T (p.Pro40=)	SULT2B1	Single nucleotide variant (synonymous variant)	SULT2B1-related condition +1 more	GBenign
Select item 1601562	NM_177973.2(SULT2B1):c.424-10C>T	SULT2B1	Single nucleotide variant (intron variant)	SULT2B1-related condition +1 more	GBenign
Select item 1601533	NM_177973.2(SULT2B1):c.1034C>T (p.Pro345Leu)	SULT2B1 (P330L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1601174	NM_177973.2(SULT2B1):c.948C>T (p.Asp316=)	SULT2B1	Single nucleotide variant (synonymous variant)	SULT2B1-related condition +1 more	GBenign
Select item 1591349	NM_177973.2(SULT2B1):c.912G>A (p.Met304Ile)	SULT2B1 (M289I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1443354	NM_177973.2(SULT2B1):c.742G>A (p.Ala248Thr)	SULT2B1 (A233T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1378138	NM_177973.2(SULT2B1):c.998T>C (p.Leu333Pro)	SULT2B1 (L318P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1368554	NM_177973.2(SULT2B1):c.181G>A (p.Asp61Asn)	SULT2B1 (D61N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1303541	NM_177973.2(SULT2B1):c.1042AGCCCC[2] (p.348SP[2])	SULT2B1	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1265068	NM_177973.2(SULT2B1):c.834C>T (p.Cys278=)	SULT2B1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1098858	NM_177973.2(SULT2B1):c.637C>T (p.Leu213=)	SULT2B1	Single nucleotide variant (synonymous variant)	Ichthyosis, congenital, autosomal recessive 14 +1 more	GBenign
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	FLT3LG, FPR1 +308 more	Copy number gain	not provided	GPathogenic
Select item 980767	GRCh37/hg19 19q13.33(chr19:48854319-49430535)x3	BCAT2, CA11 +26 more	Copy number gain	not provided	GLikely pathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	FUZ, GARIN5A +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	CLDND2, IGSF23 +293 more	Copy number gain	not provided	GPathogenic
Select item 799104	NM_177973.2(SULT2B1):c.600G>A (p.Lys200=)	SULT2B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 799103	NM_177973.2(SULT2B1):c.426G>A (p.Val142=)	SULT2B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 796345	NM_177973.2(SULT2B1):c.630C>T (p.Tyr210=)	SULT2B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 790920	NM_177973.2(SULT2B1):c.98G>A (p.Arg33Gln)	SULT2B1 (R33Q +1 more)	Single nucleotide variant (missense variant)	SULT2B1-related condition +1 more	GBenign
Select item 782627	NM_177973.2(SULT2B1):c.803G>A (p.Arg268His)	SULT2B1 (R253H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 778850	NM_177973.2(SULT2B1):c.277C>T (p.Arg93Cys)	SULT2B1 (R93C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 773358	NM_177973.2(SULT2B1):c.756C>T (p.Asn252=)	SULT2B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 748807	NM_177973.2(SULT2B1):c.18G>A (p.Glu6=)	SULT2B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 737863	NM_177973.2(SULT2B1):c.215-6C>G	SULT2B1	Single nucleotide variant (intron variant)	SULT2B1-related condition +1 more	GBenign
Select item 737492	NM_177973.2(SULT2B1):c.807C>T (p.Arg269=)	SULT2B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 726656	NM_177973.2(SULT2B1):c.152T>C (p.Leu51Ser)	SULT2B1 (L36S +1 more)	Single nucleotide variant (missense variant)	SULT2B1-related condition +1 more	GBenign/Likely benign
Select item 720878	NM_177973.2(SULT2B1):c.501G>A (p.Lys167=)	SULT2B1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 719579	NM_177973.2(SULT2B1):c.826+3G>A	SULT2B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 711605	NM_177973.2(SULT2B1):c.15C>T (p.Ala5=)	SULT2B1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 710148	NM_177973.2(SULT2B1):c.570C>T (p.Phe190=)	SULT2B1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688109	GRCh37/hg19 19q13.33(chr19:48119589-49595956)x3	BAX, BCAT2 +58 more	Copy number gain	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 633834	NM_177973.2(SULT2B1):c.298C>T (p.Arg100Trp)	SULT2B1 (R100W +1 more)	Single nucleotide variant (missense variant)	Ichthyosis, congenital, autosomal recessive 14	GLikely pathogenic
Select item 633833	NM_177973.2(SULT2B1):c.232G>A (p.Glu78Lys)	SULT2B1 (E78K +1 more)	Single nucleotide variant (missense variant)	Ichthyosis, congenital, autosomal recessive 14	GLikely pathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 426110	NM_177973.2(SULT2B1):c.71+2T>A	SULT2B1	Single nucleotide variant (splice donor variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 426109	NM_177973.2(SULT2B1):c.364dup (p.Met122fs)	SULT2B1 (M107fs +1 more)	Duplication (frameshift variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 426108	NM_177973.2(SULT2B1):c.821G>A (p.Arg274Gln)	SULT2B1 (R274Q +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 426107	NM_177973.2(SULT2B1):c.446C>T (p.Pro149Leu)	SULT2B1 (P149L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1	GPathogenic
Select item 394298	GRCh37/hg19 19q13.33(chr19:49030319-49114045)x3	FAM83E, SPACA4 +1 more	Copy number gain	See cases	GBenign
Select item 146386	GRCh38/hg38 19q13.33(chr19:48577651-48839042)x3	BCAT2, CA11 +45 more	Copy number gain	See cases	GUncertain significance
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	AP2S1, ARHGAP35 +290 more	Copy number gain	See cases	GPathogenic

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Items: 73