ClinVar for Gene (Select 7390) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063175	GRCh37/hg19 10q26.13-26.3(chr10:125987494-135427143)x1	ABRAXAS2, ADAM12 +55 more	Copy number loss	not specified	GPathogenic
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063149	GRCh37/hg19 10q26.13-26.3(chr10:126127397-135427143)x1	ABRAXAS2, ADAM12 +54 more	Copy number loss	not specified	GPathogenic
Select item 3057717	NM_000375.3(UROS):c.661-3T>C	UROS	Single nucleotide variant (intron variant)	UROS-related condition	GLikely benign
Select item 3049221	NM_000375.3(UROS):c.394+4382C>G	UROS	Single nucleotide variant (intron variant)	UROS-related condition	GLikely benign
Select item 3031242	NM_000375.3(UROS):c.562-5C>T	UROS	Single nucleotide variant (intron variant)	UROS-related condition	GLikely benign
Select item 3000489	NM_000375.3(UROS):c.413C>A (p.Pro138His)	UROS (P138H)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2958317	NM_000375.3(UROS):c.320-9G>A	UROS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2866524	NM_000375.3(UROS):c.678C>T (p.Pro226=)	UROS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2865079	NM_000375.3(UROS):c.738C>T (p.Pro246=)	UROS	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2816208	NM_000375.3(UROS):c.543C>T (p.Asn181=)	UROS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2789839	NM_000375.3(UROS):c.549C>T (p.Tyr183=)	UROS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2767355	NM_000375.3(UROS):c.684G>A (p.Thr228=)	UROS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2750746	NM_000375.3(UROS):c.606A>C (p.Thr202=)	UROS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2743872	NM_000375.3(UROS):c.244+12T>G	UROS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2718422	NM_000375.3(UROS):c.348A>G (p.Gly116=)	UROS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2704355	NM_000375.3(UROS):c.148-10T>C	UROS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2684621	GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3	ABLIM1, ABRAXAS2 +117 more	Copy number gain	not provided	GPathogenic
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2664905	NM_000375.3(UROS):c.660+4del	UROS	Deletion (intron variant)	Cutaneous porphyria	GUncertain significance
Select item 2580338	GRCh37/hg19 10q26.13-26.3(chr10:124895517-135440296)x1	ABRAXAS2, ADAM12 +62 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574693	GRCh37/hg19 10q26.13-26.3(chr10:123477898-135427143)	ABRAXAS2, ACADSB +77 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2565887	NM_000375.3(UROS):c.559C>G (p.Gln187Glu)	UROS (Q160E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2498475	GRCh37/hg19 10q26.12-26.3(chr10:122610933-135439810)x1	HMX3, LHPP +80 more	Copy number loss	not provided	GPathogenic
Select item 2296673	NM_000375.3(UROS):c.692C>T (p.Ala231Val)	UROS (A204V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2259659	NM_000375.3(UROS):c.556C>A (p.Gln186Lys)	UROS (Q186K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2199337	NM_000375.3(UROS):c.383A>G (p.Tyr128Cys)	UROS (Y128C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2187507	NM_000375.3(UROS):c.555C>T (p.Ser185=)	UROS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2136940	NM_000375.3(UROS):c.634T>C (p.Ser212Pro)	UROS (S212P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 2058649	NM_000375.3(UROS):c.222G>C (p.Leu74Phe)	UROS (L74F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2052520	NM_000375.3(UROS):c.493A>G (p.Ile165Val)	UROS (I138V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1984702	NM_000375.3(UROS):c.561+10G>A	UROS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1982531	NM_000375.3(UROS):c.501G>A (p.Val167=)	UROS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1945141	NM_000375.3(UROS):c.93T>C (p.Thr31=)	UROS	Single nucleotide variant (synonymous variant +1 more)	UROS-related condition +1 more	GLikely benign
Select item 1916610	NM_000375.3(UROS):c.693G>A (p.Ala231=)	UROS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1913522	NM_000375.3(UROS):c.424C>T (p.Pro142Ser)	UROS (P142S)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1912428	NM_000375.3(UROS):c.476-20C>G	UROS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1808847	GRCh37/hg19 10q26.13-26.3(chr10:126662496-133985966)x3	ADAM12, BCCIP +24 more	Copy number gain	not provided	GUncertain significance
Select item 1711099	GRCh37/hg19 10q26.13-26.3(chr10:127198625-135427143)x3	ADAM12, ADAM8 +47 more	Copy number gain	See cases	GPathogenic
Select item 1711096	GRCh37/hg19 10q26.13-26.3(chr10:126914469-135427143)x1	ADAM12, ADAM8 +47 more	Copy number loss	See cases	GPathogenic
Select item 1707466	Single allele	BCCIP, CTBP2 +34 more	Duplication	not specified	GUncertain significance
Select item 1650102	NM_000375.3(UROS):c.148-4G>T	UROS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1606256	NM_000375.3(UROS):c.320-5T>C	UROS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1602213	NM_000375.3(UROS):c.63+18C>T	UROS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1586857	NM_000375.3(UROS):c.462G>A (p.Ala154=)	UROS	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 1527609	GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143)	FAM24A, FAM24B +80 more	Copy number loss	not specified	GPathogenic
Select item 1527608	GRCh37/hg19 10q26.12-26.3(chr10:122125760-135062972)	ABRAXAS2, ACADSB +68 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 1510621	NM_000375.3(UROS):c.50A>G (p.Asp17Gly)	UROS (D17G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1506393	NM_000375.3(UROS):c.416T>G (p.Leu139Arg)	UROS (L139R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1497350	NM_000375.3(UROS):c.337G>C (p.Asp113His)	UROS (D113H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1482309	NM_000375.3(UROS):c.649G>A (p.Asp217Asn)	UROS (D190N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1458139	NM_000375.3(UROS):c.395-2A>C	UROS	Single nucleotide variant (intron variant +1 more)	not provided	GPathogenic
Select item 1456823	NM_000375.3(UROS):c.296T>C (p.Val99Ala)	UROS (V99A)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 1452606	NM_000375.3(UROS):c.633dup (p.Ser212fs)	UROS (S185fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 1452604	NM_000375.3(UROS):c.710T>C (p.Leu237Pro)	UROS (L210P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 1427883	NM_000375.3(UROS):c.223G>T (p.Glu75Ter)	UROS (E75*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1406176	NM_000375.3(UROS):c.337G>A (p.Asp113Asn)	UROS (D113N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1377530	NM_000375.3(UROS):c.64G>A (p.Glu22Lys)	UROS (E22K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1352835	NM_000375.3(UROS):c.127C>G (p.Leu43Val)	UROS (L43V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1340727	GRCh37/hg19 10q26.13-26.2(chr10:127128172-127999424)x3	ADAM12, BCCIP +6 more	Copy number gain	not provided	GUncertain significance
Select item 1289751	NM_000375.3(UROS):c.-26-332C>T	UROS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283651	NM_000375.3(UROS):c.147+86T>C	UROS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281114	NM_000375.3(UROS):c.395-171G>A	UROS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276252	NM_000375.3(UROS):c.394+150A>G	UROS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273857	NM_000375.3(UROS):c.148-235C>G	UROS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273846	NM_000375.3(UROS):c.394+175T>G	UROS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269620	NM_000375.3(UROS):c.319+65G>C	UROS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266364	NM_000375.3(UROS):c.562-26C>T	UROS	Single nucleotide variant (intron variant)	Cutaneous porphyria +1 more	GBenign
Select item 1265038	NM_000375.3(UROS):c.561+129C>G	UROS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257905	NM_000375.3(UROS):c.561+55G>C	UROS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251135	NM_000375.3(UROS):c.475+205C>T	UROS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249902	NM_000375.3(UROS):c.320-303G>A	UROS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237252	NM_000375.3(UROS):c.660+52del	UROS	Deletion (intron variant)	not provided	GBenign
Select item 1232239	NM_000375.3(UROS):c.476-200C>A	UROS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227454	NM_000375.3(UROS):c.475+292del	UROS	Deletion (intron variant)	not provided	GBenign
Select item 1203259	NM_000375.3(UROS):c.562-6C>A	UROS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182438	NM_000375.3(UROS):c.148-244C>T	UROS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180521	GRCh37/hg19 10q25.3-26.3(chr10:118247181-135435319)x3	ECHS1, EDRF1 +110 more	Copy number gain	not provided	GPathogenic
Select item 1172570	GRCh37/hg19 10q26.12-26.3(chr10:122785023-135457222)x1	FANK1, FGFR2 +79 more	Copy number loss	See cases	GPathogenic
Select item 1164731	NM_000375.3(UROS):c.561+19C>T	UROS	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1066786	NM_000375.3(UROS):c.7G>T (p.Val3Phe)	UROS (V3F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 1049333	NM_000375.3(UROS):c.22G>A (p.Asp8Asn)	UROS (D8N)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1002289	NM_000375.3(UROS):c.693_749del (p.Ala234_Ala252del)	UROS	Deletion (inframe_deletion +1 more)	not provided	GPathogenic
Select item 880400	NM_000375.3(UROS):c.-195C>A	UROS	Single nucleotide variant (5 prime UTR variant +1 more)	Cutaneous porphyria	GUncertain significance
Select item 880399	NM_000375.3(UROS):c.-134C>A	UROS	Single nucleotide variant (5 prime UTR variant +1 more)	Cutaneous porphyria	GUncertain significance
Select item 879197	NM_000375.3(UROS):c.53C>T (p.Pro18Leu)	UROS (P18L)	Single nucleotide variant (missense variant +1 more)	Cutaneous porphyria	GUncertain significance
Select item 879196	NM_000375.3(UROS):c.106T>G (p.Leu36Val)	UROS (L36V)	Single nucleotide variant (missense variant +1 more)	Cutaneous porphyria	GUncertain significance
Select item 879195	NM_000375.3(UROS):c.169G>A (p.Gly57Arg)	UROS (G57R)	Single nucleotide variant (missense variant +1 more)	Cutaneous porphyria	GUncertain significance
Select item 878599	NM_000375.3(UROS):c.740C>T (p.Thr247Met)	UROS (T220M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 878598	NM_000375.3(UROS):c.*56T>C	UROS	Single nucleotide variant (3 prime UTR variant +1 more)	Cutaneous porphyria	GUncertain significance
Select item 878597	NM_000375.3(UROS):c.*92T>G	UROS	Single nucleotide variant (3 prime UTR variant +1 more)	Cutaneous porphyria	GUncertain significance
Select item 877640	NM_000375.3(UROS):c.-224C>T	UROS	Single nucleotide variant (5 prime UTR variant +1 more)	Cutaneous porphyria	GUncertain significance
Select item 877580	NM_000375.3(UROS):c.*96G>A	UROS	Single nucleotide variant (3 prime UTR variant +1 more)	Cutaneous porphyria	GLikely benign
Select item 815379	GRCh37/hg19 10q26.11-26.3(chr10:119996339-135427143)x3	FGFR2, FOXI2 +95 more	Copy number gain	not provided	GPathogenic
Select item 764345	NM_000375.3(UROS):c.562-8C>G	UROS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 757147	NM_000375.3(UROS):c.148-3C>T	UROS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 747073	NM_000375.3(UROS):c.751C>G (p.Leu251Val)	UROS (L251V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign

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