ClinVar for Gene (Select 100506142) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3154089	NM_012249.4(RHOQ):c.215G>A (p.Arg72His)	RHOQ, RHOQ-AS1 (R72H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545725	NM_012249.4(RHOQ):c.400A>G (p.Arg134Gly)	RHOQ, RHOQ-AS1 (R134G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327980	NM_012249.4(RHOQ):c.427A>G (p.Ile143Val)	RHOQ, RHOQ-AS1 (I143V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 154531	GRCh38/hg38 2p21(chr2:46573689-46732838)x3	CRIPT, LOC129933670 +8 more	Copy number gain	See cases	GBenign
Select item 153532	GRCh38/hg38 2p21-16.3(chr2:46415109-48203207)x3	LOC129933708, LOC129933709 +104 more	Copy number gain	See cases	GUncertain significance
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic

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