UROS[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic
Select item 59728	GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3	ABRAXAS2, ACADSB +514 more	Copy number gain	See cases	GPathogenic
Select item 153718	GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3	LOC130004884, LOC130004885 +438 more	Copy number gain	See cases	GPathogenic
Select item 57403	GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1	LOC130004881, LOC130004882 +418 more	Copy number loss	See cases	GPathogenic
Select item 150499	GRCh38/hg38 10q26.12-26.3(chr10:120970558-133622588)x1	LOC130005014, LOC130005015 +409 more	Copy number loss	See cases	GPathogenic
Select item 154374	GRCh38/hg38 10q26.13-26.3(chr10:121588992-133620674)x1	FUOM, GLRX3 +399 more	Copy number loss	See cases	GPathogenic
Select item 154670	GRCh38/hg38 10q26.13-26.3(chr10:121918547-133620674)x1	LOC130004911, LOC130004912 +395 more	Copy number loss	See cases	GPathogenic
Select item 57376	GRCh38/hg38 10q26.13-26.3(chr10:122265252-133620674)x1	ABRAXAS2, ACADSB +383 more	Copy number loss	See cases	GPathogenic
Select item 58820	GRCh38/hg38 10q26.13-26.2(chr10:122826743-126730948)x1	ABRAXAS2, ACADSB +164 more	Copy number loss	See cases	GPathogenic
Select item 149417	GRCh38/hg38 10q26.13-26.3(chr10:122881207-133620609)x1	LOC130004994, LOC130004995 +361 more	Copy number loss	See cases	GPathogenic
Select item 58821	GRCh38/hg38 10q26.13-26.2(chr10:122973296-128210291)x1	ABRAXAS2, ACADSB +182 more	Copy number loss	See cases	GPathogenic
Select item 57447	GRCh38/hg38 10q26.13-26.3(chr10:123307835-133620674)x1	ABRAXAS2, ADAM12 +331 more	Copy number loss	See cases	GPathogenic
Select item 155477	GRCh38/hg38 10q26.13-26.3(chr10:123576393-133613639)x1	ABRAXAS2, ADAM12 +318 more	Copy number loss	See cases	GPathogenic
Select item 58822	GRCh38/hg38 10q26.13-26.3(chr10:123580320-133558988)x1	ABRAXAS2, ADAM12 +318 more	Copy number loss	See cases	GPathogenic
Select item 155556	GRCh38/hg38 10q26.13-26.3(chr10:123986772-133613639)x1	ABRAXAS2, ADAM12 +311 more	Copy number loss	See cases	GPathogenic
Select item 147735	GRCh38/hg38 10q26.13-26.2(chr10:124032888-127368827)x3	ABRAXAS2, ADAM12 +117 more	Copy number gain	See cases	GPathogenic
Select item 146789	GRCh38/hg38 10q26.13-26.3(chr10:124473108-133620609)x1	ABRAXAS2, ADAM12 +297 more	Copy number loss	See cases	GPathogenic
Select item 148580	GRCh38/hg38 10q26.13-26.3(chr10:124834858-133622588)x1	LOC130005026, LOC130005027 +257 more	Copy number loss	See cases	GPathogenic
Select item 1707466	Single allele	BCCIP, CTBP2 +34 more	Duplication	not specified	GUncertain significance
Select item 150776	GRCh38/hg38 10q26.13-26.3(chr10:125021995-133620609)x1	LOC126861090, LOC126861091 +250 more	Copy number loss	See cases	GPathogenic
Select item 152830	GRCh38/hg38 10q26.13-26.3(chr10:125452905-133785874)x3	ADAM12, ADAM8 +241 more	Copy number gain	See cases	GPathogenic
Select item 144259	GRCh38/hg38 10q26.13-26.3(chr10:125657472-133620674)x1	ADAM12, ADAM8 +234 more	Copy number loss	See cases	GPathogenic
Select item 299183	NM_000375.3(UROS):c.*178G>A	UROS	Single nucleotide variant (3 prime UTR variant +1 more)	Cutaneous porphyria	GUncertain significance
Select item 299184	NM_000375.3(UROS):c.*99A>G	UROS	Single nucleotide variant (3 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 878597	NM_000375.3(UROS):c.*92T>G	UROS	Single nucleotide variant (3 prime UTR variant +1 more)	Cutaneous porphyria	GUncertain significance
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 299185	NM_000375.3(UROS):c.*37G>T	UROS	Single nucleotide variant (3 prime UTR variant +1 more)	Cutaneous porphyria +1 more	GBenign
Select item 299186	NM_000375.3(UROS):c.*24A>G	UROS	Single nucleotide variant (3 prime UTR variant +1 more)	Cutaneous porphyria	GUncertain significance
Select item 3331252	NM_000375.3(UROS):c.785A>G (p.His262Arg)	UROS (H262R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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	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 3769	NM_000375.3(UROS):c.743C>A (p.Pro248Gln)	UROS (P248Q +2 more)	Single nucleotide variant (missense variant +1 more)	Cutaneous porphyria	GPathogenic
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 2865079	NM_000375.3(UROS):c.738C>T (p.Pro246=)	UROS	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 745650	NM_000375.3(UROS):c.700G>A (p.Ala234Thr)	UROS (A207T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 299187	NM_000375.3(UROS):c.691G>A (p.Ala231Thr)	UROS (A231T +2 more)	Single nucleotide variant (missense variant +1 more)	Cutaneous porphyria	GUncertain significance
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 3754	NM_000375.3(UROS):c.683C>T (p.Thr228Met)	UROS (T228M +2 more)	Single nucleotide variant (missense variant +1 more)	UROS-related disorder +2 more	GConflicting classifications of pathogenicity
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 3766	NM_000375.3(UROS):c.673G>A (p.Gly225Ser)	UROS (G225S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 743521	NM_000375.3(UROS):c.663T>C (p.Phe221=)	UROS	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3057717	NM_000375.3(UROS):c.661-3T>C	UROS	Single nucleotide variant (intron variant)	UROS-related disorder	GLikely benign
Select item 30626	NM_000375.3(UROS):c.661-31T>G	UROS	Single nucleotide variant (intron variant)	Cutaneous porphyria	GPathogenic
Select item 1237252	NM_000375.3(UROS):c.660+52del	UROS	Deletion (intron variant)	not provided	GBenign
Select item 2664905	NM_000375.3(UROS):c.660+4del	UROS	Deletion (intron variant)	Cutaneous porphyria	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 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 1452606	NM_000375.3(UROS):c.633dup (p.Ser212fs)	UROS (S185fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
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 3761	NM_000375.3(UROS):c.562G>T (p.Gly188Trp)	UROS (G188W +1 more)	Single nucleotide variant (missense variant +1 more)	Cutaneous porphyria	GPathogenic
Select item 3759	NM_000375.3(UROS):c.562G>A (p.Gly188Arg)	UROS (G188R +1 more)	Single nucleotide variant (missense variant +1 more)	Cutaneous porphyria	GPathogenic
Select item 3031242	NM_000375.3(UROS):c.562-5C>T	UROS	Single nucleotide variant (intron variant)	UROS-related disorder	GLikely benign
Select item 1203259	NM_000375.3(UROS):c.562-6C>A	UROS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 764345	NM_000375.3(UROS):c.562-8C>G	UROS	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1164731	NM_000375.3(UROS):c.561+19C>T	UROS	Single nucleotide variant (intron variant)	Cutaneous porphyria +1 more	GBenign
Select item 1984702	NM_000375.3(UROS):c.561+10G>A	UROS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 743645	NM_000375.3(UROS):c.561+9C>T	UROS	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 2187507	NM_000375.3(UROS):c.555C>T (p.Ser185=)	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 2816208	NM_000375.3(UROS):c.543C>T (p.Asn181=)	UROS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3331253	NM_000375.3(UROS):c.532G>C (p.Gly178Arg)	UROS (G151R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 299189	NM_000375.3(UROS):c.512T>C (p.Val171Ala)	UROS (V144A +1 more)	Single nucleotide variant (missense variant +1 more)	Cutaneous porphyria +1 more	GConflicting classifications of pathogenicity
Select item 299188	NM_000375.3(UROS):c.512T>G (p.Val171Gly)	UROS (V171G +1 more)	Single nucleotide variant (missense variant +1 more)	Cutaneous porphyria +1 more	GBenign
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 2052520	NM_000375.3(UROS):c.493A>G (p.Ile165Val)	UROS (I138V +1 more)	Single nucleotide variant (non-coding transcript variant +1 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 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 1251135	NM_000375.3(UROS):c.475+205C>T	UROS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 299190	NM_000375.3(UROS):c.475+14T>A	UROS	Single nucleotide variant (intron variant)	Cutaneous porphyria +1 more	GConflicting classifications of pathogenicity
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 1913522	NM_000375.3(UROS):c.424C>T (p.Pro142Ser)	UROS (P142S)	Single nucleotide variant (missense variant +2 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 3000489	NM_000375.3(UROS):c.413C>A (p.Pro138His)	UROS (P138H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3768	NM_000375.3(UROS):c.395-1dup	UROS	Duplication (intron variant +1 more)	Cutaneous porphyria	GPathogenic
Select item 1458139	NM_000375.3(UROS):c.395-2A>C	UROS	Single nucleotide variant (intron variant +1 more)	not provided	GPathogenic
Select item 1281114	NM_000375.3(UROS):c.395-171G>A	UROS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3049221	NM_000375.3(UROS):c.394+4382C>G	UROS	Single nucleotide variant (intron variant)	UROS-related disorder	GLikely benign
Select item 1273846	NM_000375.3(UROS):c.394+175T>G	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 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 2718422	NM_000375.3(UROS):c.348A>G (p.Gly116=)	UROS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 299191	NM_000375.3(UROS):c.338A>T (p.Asp113Val)	UROS (D113V)	Single nucleotide variant (missense variant +1 more)	Cutaneous porphyria +1 more	GBenign
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 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 299192	NM_000375.3(UROS):c.327A>C (p.Lys109Asn)	UROS (K109N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1606256	NM_000375.3(UROS):c.320-5T>C	UROS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958317	NM_000375.3(UROS):c.320-9G>A	UROS	Single nucleotide variant (intron variant)	not provided	GLikely benign

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