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

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 58655	GRCh38/hg38 17p13.3(chr17:436763-2527511)x3	ABR, ABR-AS1 +180 more	Copy number gain	See cases	GPathogenic
Select item 59559	GRCh38/hg38 17p13.3(chr17:855404-1345517)x1	ABR, ABR-AS1 +19 more	Copy number loss	See cases	GPathogenic
Select item 145986	GRCh38/hg38 17p13.3(chr17:1325785-1445161)x3	CRK, LOC112529892 +2 more	Copy number gain	See cases	GPathogenic
Select item 1248679	NM_006761.5(YWHAE):c.156_157dup	YWHAE	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1236952	NM_006761.5(YWHAE):c.*157dup	YWHAE	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1269526	NM_006761.5(YWHAE):c.*157del	YWHAE	Deletion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 152857	GRCh38/hg38 17p13.3(chr17:1348488-1358016)x3	YWHAE	Copy number gain	See cases	GLikely pathogenic
Select item 1225591	NM_006761.5(YWHAE):c.578+188C>G	YWHAE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251628	NM_006761.5(YWHAE):c.578+65C>T	YWHAE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246571	NM_006761.5(YWHAE):c.372-35dup	YWHAE	Duplication (intron variant)	not provided	GBenign
Select item 1226644	NM_006761.5(YWHAE):c.372-20del	YWHAE	Deletion (intron variant)	not provided	GBenign
Select item 1258946	NM_006761.5(YWHAE):c.371+132T>G	YWHAE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234092	NM_006761.5(YWHAE):c.265-15dup	YWHAE	Duplication (intron variant)	not provided	GBenign
Select item 260033	NM_006761.5(YWHAE):c.265-23A>T	YWHAE	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1290876	NM_006761.5(YWHAE):c.265-210T>C	YWHAE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182402	NM_006761.5(YWHAE):c.65-93del	YWHAE	Deletion (intron variant)	not provided	GBenign
Select item 1273124	NM_006761.5(YWHAE):c.-54G>C	YWHAE	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1269387	NC_000017.11:g.1400484C>G	YWHAE	Single nucleotide variant	not provided	GBenign
Select item 1229047	NC_000017.11:g.1400494C>A	YWHAE	Single nucleotide variant	not provided	GBenign
Select item 253997	GRCh37/hg19 17p13.3(chr17:1248758-1251720)x3	YWHAE	Copy number gain	See cases	GUncertain significance
Select item 253951	GRCh37/hg19 17p13.3(chr17:1061693-1256253)x3	BHLHA9, TRARG1 +2 more	Copy number gain	See cases	GUncertain significance
Select item 253899	GRCh37/hg19 17p13.3(chr17:1061693-1264288)x3	BHLHA9, TRARG1 +2 more	Copy number gain	See cases	GUncertain significance
Select item 253701	GRCh37/hg19 17p13.3(chr17:1235754-1261369)x3	YWHAE	Copy number gain	See cases	GUncertain significance
Select item 253567	GRCh37/hg19 17p13.3(chr17:1145504-1445005)x3	TRARG1, YWHAE +5 more	Copy number gain	See cases	GPathogenic
Select item 253507	GRCh37/hg19 17p13.3-13.2(chr17:919381-4046915)x3	ABR, ASPA +60 more	Copy number gain	See cases	GPathogenic
Select item 253440	GRCh37/hg19 17p13.3(chr17:1218064-2619473)x1	MIR212, SCARF1 +28 more	Copy number loss	See cases	GPathogenic
Select item 253349	GRCh37/hg19 17p13.3(chr17:961016-1641881)x3	ABR, BHLHA9 +13 more	Copy number gain	See cases	GLikely pathogenic

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Items: 28