ClinVar for MedGen (Select 934598) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362750	NM_017644.3(KLHL24):c.661C>T (p.Leu221Phe)	KLHL24 (L221F)	Single nucleotide variant (missense variant +2 more)	Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss	GLikely pathogenic
Select item 3362479	NM_017644.3(KLHL24):c.821T>C (p.Leu274Ser)	KLHL24 (L274S)	Single nucleotide variant (missense variant +2 more)	Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss	GUncertain significance
Select item 3220917	NM_017644.3(KLHL24):c.1609T>A (p.Cys537Ser)	KLHL24 (C256S +2 more)	Single nucleotide variant (missense variant +1 more)	Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss	GUncertain significance
Select item 3065341	NM_017644.3(KLHL24):c.367T>C (p.Tyr123His)	KLHL24 (Y123H)	Single nucleotide variant (missense variant +2 more)	Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss	GUncertain significance
Select item 2443767	KLHL24, 1A-T	KLHL24	Single nucleotide variant	Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss	GPathogenic
Select item 2443766	KLHL24, 2T-G	KLHL24	Single nucleotide variant	Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss	GPathogenic
Select item 931095	NM_017644.3(KLHL24):c.3G>C (p.Met1Ile)	KLHL24 (M1I)	Single nucleotide variant (missense variant +3 more)	Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss	GPathogenic
Select item 370042	NM_017644.3(KLHL24):c.2T>C (p.Met1Thr)	KLHL24 (M1T)	Single nucleotide variant (missense variant +3 more)	Epidermolysis bullosa simplex, Koebner type	GPathogenic
Select item 264648	NM_017644.3(KLHL24):c.1A>G (p.Met1Val)	KLHL24 (M1V)	Single nucleotide variant (missense variant +3 more)	Epidermolysis bullosa simplex, Koebner type +2 more	GPathogenic
Select item 264647	NM_017644.3(KLHL24):c.3G>T (p.Met1Ile)	KLHL24 (M1I)	Single nucleotide variant (missense variant +3 more)	Epidermolysis bullosa simplex, Koebner type	GPathogenic
Select item 264646	NM_017644.3(KLHL24):c.3G>A (p.Met1Ile)	KLHL24 (M1I)	Single nucleotide variant (missense variant +3 more)	Epidermolysis bullosa simplex, Koebner type	GPathogenic