Related gene-specific medical variations for Gene (Select 7503) - ClinVar - NCBI

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

Links from Gene

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3350445	NR_001564.3(XIST):n.15371C>G	TSIX, XIST	Single nucleotide variant (non-coding transcript variant)	XIST-related disorder	GLikely benign
Select item 3049478	NR_003255.2(TSIX):n.31759T>C	TSIX, XIST	Single nucleotide variant (non-coding transcript variant)	TSIX-related disorder	GBenign
Select item 3048676	NR_001564.3(XIST):n.17781C>T	TSIX, XIST	Single nucleotide variant (non-coding transcript variant)	XIST-related disorder	GLikely benign
Select item 3048329	NR_003255.2(TSIX):n.29983A>C	TSIX, XIST	Single nucleotide variant (non-coding transcript variant)	TSIX-related disorder	GLikely benign
Select item 3045837	NR_001564.3(XIST):n.16081T>A	TSIX, XIST	Single nucleotide variant (non-coding transcript variant)	XIST-related disorder	GBenign
Select item 3045578	NR_001564.3(XIST):n.16811A>C	TSIX, XIST	Single nucleotide variant (non-coding transcript variant)	XIST-related disorder	GBenign
Select item 3042649	NR_001564.3(XIST):n.18939T>C	TSIX, XIST	Single nucleotide variant (non-coding transcript variant)	XIST-related disorder	GBenign
Select item 3042582	NR_003255.2(TSIX):n.34905G>A	TSIX, XIST	Single nucleotide variant (non-coding transcript variant)	TSIX-related disorder	GLikely benign
Select item 3042415	NR_003255.2(TSIX):n.34874_34875del	TSIX, XIST	Deletion (non-coding transcript variant)	TSIX-related disorder	GLikely benign
Select item 3041924	NR_003255.2(TSIX):n.31258G>A	TSIX, XIST	Single nucleotide variant (non-coding transcript variant)	TSIX-related disorder	GBenign
Select item 3041021	NR_003255.2(TSIX):n.29223T>G	TSIX, XIST	Single nucleotide variant (non-coding transcript variant)	TSIX-related disorder	GLikely benign
Select item 3039573	NR_001564.3(XIST):n.12158G>A	TSIX, XIST	Single nucleotide variant (non-coding transcript variant)	XIST-related disorder	GBenign
Select item 3038685	NR_001564.3(XIST):n.16066delC	TSIX, XIST	Deletion (non-coding transcript variant)	XIST-related disorder	GBenign
Select item 3038264	NR_001564.3(XIST):n.18128A>T	TSIX, XIST	Single nucleotide variant (non-coding transcript variant)	XIST-related disorder	GLikely benign
Select item 3036330	NR_003255.2(TSIX):n.35037G>A	TSIX, XIST	Single nucleotide variant (non-coding transcript variant)	TSIX-related disorder	GLikely benign
Select item 3036287	NR_003255.2(TSIX):n.29775C>T	TSIX, XIST	Single nucleotide variant (non-coding transcript variant)	TSIX-related disorder	GLikely benign
Select item 57653	GRCh38/hg38 Xq13.2(chrX:73835373-73839625)x1	XIST	Copy number loss	See cases	GUncertain significance