ClinVar for MedGen (Select 374909) - ClinVar - NCBI

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Items: 10

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 18022481.	NM_000601.6(HGF):c.1810T>C (p.Cys604Arg) GRCh37: Chr7:81335017 GRCh38: Chr7:81705701	HGF	C599R, C604R	Autosomal recessive nonsyndromic hearing loss 39	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 13044502.	NM_000601.6(HGF):c.6G>T (p.Trp2Cys) GRCh37: Chr7:81399282 GRCh38: Chr7:81769966	HGF	W2C	not provided, Autosomal recessive nonsyndromic hearing loss 39	Uncertain significance (May 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12451863.	NM_000601.6(HGF):c.866-22del GRCh37: Chr7:81359117 GRCh38: Chr7:81729801	HGF		Autosomal recessive nonsyndromic hearing loss 39, not provided	Benign (Aug 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 1783804.	NM_000601.6(HGF):c.1891G>A (p.Val631Met) GRCh37: Chr7:81334825 GRCh38: Chr7:81705509	HGF	V631M, V626M	not specified, not provided, Autosomal recessive nonsyndromic hearing loss 39	Conflicting interpretations of pathogenicity (Feb 1, 2023)	criteria provided, conflicting interpretations
Select item 1636605.	NM_000601.6(HGF):c.983G>T (p.Arg328Leu) GRCh37: Chr7:81358978 GRCh38: Chr7:81729662	HGF	R328L, R323L	not specified	Uncertain significance (Jan 9, 2014)	criteria provided, single submitter
Select item 436076.	NM_000601.6(HGF):c.1272-4A>G GRCh37: Chr7:81346685 GRCh38: Chr7:81717369	HGF		Nonsyndromic Hearing Loss, Mixed, not specified, not provided, Autosomal recessive nonsyndromic hearing loss 39	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 436067.	NM_000601.6(HGF):c.1008G>A (p.Glu336=) GRCh37: Chr7:81358953 GRCh38: Chr7:81729637	HGF		not specified, not provided, Autosomal recessive nonsyndromic hearing loss 39	Conflicting interpretations of pathogenicity (Oct 9, 2022)	criteria provided, conflicting interpretations
Select item 149518.	NM_000601.6(HGF):c.482+1991_482+2000del GRCh37: Chr7:81384505-81384514 GRCh38: Chr7:81755189-81755198	HGF		Autosomal recessive nonsyndromic hearing loss 39	Pathogenic (Jul 1, 2009)	no assertion criteria provided
Select item 149509.	NM_000601.6(HGF):c.482+1986_482+1988del GRCh37: Chr7:81384517-81384519 GRCh38: Chr7:81755201-81755203	HGF		Autosomal recessive nonsyndromic hearing loss 39	Pathogenic (Jul 1, 2009)	no assertion criteria provided
Select item 1494910.	NM_000601.6(HGF):c.495G>A (p.Ser165=) GRCh37: Chr7:81381566 GRCh38: Chr7:81752250	HGF		Autosomal recessive nonsyndromic hearing loss 39	Pathogenic (Jul 1, 2009)	no assertion criteria provided