Related gene-specific medical variations for Gene (Select 122773) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3115364	NM_172193.3(KLHDC1):c.85G>C (p.Gly29Arg)	KLHDC1, LOC130055543 (G29R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408826	NM_172193.3(KLHDC1):c.83G>T (p.Trp28Leu)	KLHDC1, LOC130055543 (W28L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299979	NM_172193.3(KLHDC1):c.85G>T (p.Gly29Trp)	KLHDC1, LOC130055543 (G29W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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