C5562022[trait identifier] AND "Center for Genomic Medicine, King Fais - ClinVar

Format

Sort by

Choose Destination

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065578	NM_025130.4(HKDC1):c.250G>A (p.Asp84Asn)	HKDC1, LOC126860950 (D84N)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 92	GLikely pathogenic
Select item 3068150	NM_025130.4(HKDC1):c.361G>A (p.Gly121Arg)	HKDC1, LOC126860950 (G121R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 92	GUncertain significance
Select item 3065416	NM_025130.4(HKDC1):c.1250A>G (p.Tyr417Cys)	HKDC1 (Y417C)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 92	GLikely pathogenic

Format

Sort by

Choose Destination

ClinVar