Related gene-specific medical variations for Gene (Select 7531) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2575963	NM_006761.5(YWHAE):c.265-447C>G	YWHAE	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 816553	GRCh37/hg19 17p13.3(chr17:1264320-1285011)x1	YWHAE	Copy number loss	not provided	GUncertain significance
Select item 691476	NM_006761.5(YWHAE):c.116T>C (p.Val39Ala)	YWHAE (V39A)	Single nucleotide variant (missense variant +1 more)	Aganglionic megacolon	GUncertain significance
Select item 691475	NM_006761.5(YWHAE):c.142G>A (p.Ala48Thr)	YWHAE (A48T)	Single nucleotide variant (missense variant +1 more)	Aganglionic megacolon	GUncertain significance
Select item 689240	GRCh37/hg19 17p13.3(chr17:1270426-1285011)x1	YWHAE	Copy number loss	not provided	GUncertain significance
Select item 687041	GRCh37/hg19 17p13.3(chr17:1271912-1283054)x1	YWHAE	Copy number loss	not provided	GUncertain significance
Select item 686631	GRCh37/hg19 17p13.3(chr17:1234257-1259930)x3	YWHAE	Copy number gain	not provided	GUncertain significance
Select item 394720	GRCh37/hg19 17p13.3(chr17:1249835-1258931)x3	YWHAE	Copy number gain	See cases	GUncertain significance
Select item 394147	GRCh37/hg19 17p13.3(chr17:1235754-1261310)x3	YWHAE	Copy number gain	See cases	GLikely benign
Select item 253997	GRCh37/hg19 17p13.3(chr17:1248758-1251720)x3	YWHAE	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 154956	GRCh38/hg38 17p13.3(chr17:1375174-1405502)x1	YWHAE	Copy number loss	See cases	GLikely pathogenic
Select item 152857	GRCh38/hg38 17p13.3(chr17:1348488-1358016)x3	YWHAE	Copy number gain	See cases	GLikely pathogenic
Select item 148756	GRCh38/hg38 17p13.3(chr17:1366984-1380885)x1	YWHAE	Copy number loss	See cases	GLikely benign