ClinVar for MedGen (Select 374909) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1802248	NM_000601.6(HGF):c.1810T>C (p.Cys604Arg)	HGF (C599R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 39	GUncertain significance
Select item 1304450	NM_000601.6(HGF):c.6G>T (p.Trp2Cys)	HGF (W2C)	Single nucleotide variant (missense variant)	HGF-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1245186	NM_000601.6(HGF):c.866-22del	HGF	Deletion (intron variant)	Autosomal recessive nonsyndromic hearing loss 39 +1 more	GBenign
Select item 178380	NM_000601.6(HGF):c.1891G>A (p.Val631Met)	HGF (V631M +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 163660	NM_000601.6(HGF):c.983G>T (p.Arg328Leu)	HGF (R328L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 43607	NM_000601.6(HGF):c.1272-4A>G	HGF	Single nucleotide variant (intron variant)	Nonsyndromic Hearing Loss, Mixed +3 more	GBenign/Likely benign
Select item 43606	NM_000601.6(HGF):c.1008G>A (p.Glu336=)	HGF	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 14951	NM_000601.6(HGF):c.482+1991_482+2000del	HGF	Microsatellite (intron variant)	Autosomal recessive nonsyndromic hearing loss 39	GPathogenic
Select item 14950	NM_000601.6(HGF):c.482+1986_482+1988del	HGF	Microsatellite (intron variant)	Autosomal recessive nonsyndromic hearing loss 39	GPathogenic
Select item 14949	NM_000601.6(HGF):c.495G>A (p.Ser165=)	HGF	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive nonsyndromic hearing loss 39	GPathogenic