Related gene-specific medical variations for Gene (Select 222662) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366909	LHFPL5, ARG158TRP	LHFPL5	Variation	Autosomal recessive nonsyndromic hearing loss 67	GPathogenic
Select item 3366908	LHFPL5, 1-BP DEL, 185T	LHFPL5	Deletion	Autosomal recessive nonsyndromic hearing loss 67	GPathogenic
Select item 3360729	NM_182548.4(LHFPL5):c.413C>T (p.Ala138Val)	LHFPL5 (A138V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3064363	NM_182548.4(LHFPL5):c.527G>T (p.Arg176Leu)	LHFPL5 (R176L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 2689369	NM_182548.4(LHFPL5):c.348C>G (p.Ser116Arg)	LHFPL5 (S116R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 356481	NM_182548.4(LHFPL5):c.-298AG[1]	LHFPL5, LOC129996260	Microsatellite (5 prime UTR variant)	Hearing loss, autosomal recessive +1 more	GBenign/Likely benign
Select item 356480	NM_182548.4(LHFPL5):c.-305G>A	LHFPL5, LOC129996260	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 262996	NM_182548.4(LHFPL5):c.474G>A (p.Arg158=)	LHFPL5	Single nucleotide variant (synonymous variant)	not specified	GLikely benign

ClinVar