"GeneDx"[submitter] AND "UROS"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 58821	GRCh38/hg38 10q26.13-26.2(chr10:122973296-128210291)x1	ABRAXAS2, ACADSB +182 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 1237252	NM_000375.3(UROS):c.660+52del	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 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 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 1281114	NM_000375.3(UROS):c.395-171G>A	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 1276252	NM_000375.3(UROS):c.394+150A>G	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 1269620	NM_000375.3(UROS):c.319+65G>C	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 1182438	NM_000375.3(UROS):c.148-244C>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 1289751	NM_000375.3(UROS):c.-26-332C>T	UROS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic
Select item 253439	GRCh37/hg19 10q26.12-26.2(chr10:122239239-128203032)x1	C10orf90, CHST15 +40 more	Copy number loss	See cases	GPathogenic

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Items: 23