ClinVar for Gene (Select 10951) - ClinVar - NCBI

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

Links from Gene

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3138046	NM_001127228.2(CBX1):c.524C>T (p.Ser175Leu)	CBX1 (S175L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517719	NM_001127228.2(CBX1):c.531T>G (p.Asp177Glu)	CBX1 (D177E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506553	GRCh37/hg19 17q21.32(chr17:44949883-46507482)	CBX1, CDC27 +24 more	Copy number gain	PNPO-related disorder	GLikely pathogenic
Select item 2307098	NM_001127228.2(CBX1):c.278A>T (p.Asp93Val)	CBX1 (D93V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290145	NM_001127228.2(CBX1):c.254G>A (p.Arg85His)	CBX1 (R85H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 154833	GRCh38/hg38 17q21.32-21.33(chr17:47986886-49329397)x1	ABI3, ATP5MC1 +99 more	Copy number loss	See cases	GPathogenic
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic