ClinVar for MedGen (Select 318614) - ClinVar - NCBI

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Items: 10

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25034551.	NM_177398.4(LMX1A):c.937C>T (p.Arg313Ter) GRCh37: Chr1:165175152 GRCh38: Chr1:165205915	LMX1A, LMX1A-AS2	R313*	Autosomal dominant nonsyndromic hearing loss 7	Likely pathogenic (May 31, 2023)	criteria provided, single submitter
Select item 24334922.	NM_177398.4(LMX1A):c.874G>A (p.Ala292Thr) GRCh37: Chr1:165175215 GRCh38: Chr1:165205978	LMX1A, LMX1A-AS2	A292T	Autosomal dominant nonsyndromic hearing loss 7	Uncertain significance (Aug 24, 2022)	criteria provided, single submitter
Select item 18050253.	NM_177398.4(LMX1A):c.581G>T (p.Arg194Leu) GRCh37: Chr1:165182966 GRCh38: Chr1:165213729	LMX1A	R194L	Autosomal dominant nonsyndromic hearing loss 7	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 17231784.	NM_177398.4(LMX1A):c.622C>T (p.Arg208Ter) GRCh37: Chr1:165182925 GRCh38: Chr1:165213688	LMX1A	R208*	Autosomal dominant nonsyndromic hearing loss 7	Pathogenic (Nov 10, 2022)	criteria provided, single submitter
Select item 17053425.	NM_177398.4(LMX1A):c.595A>G (p.Arg199Gly) GRCh37: Chr1:165182952 GRCh38: Chr1:165213715	LMX1A	R199G	Autosomal dominant nonsyndromic hearing loss 7	Pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 16873376.	NM_177398.4(LMX1A):c.331del (p.Gln111fs) GRCh37: Chr1:165218810 GRCh38: Chr1:165249573	LMX1A	Q111fs	Autosomal dominant nonsyndromic hearing loss 7	Likely pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 12948267.	NM_177398.4(LMX1A):c.1050T>C (p.Asp350=) GRCh37: Chr1:165173216 GRCh38: Chr1:165203979	LMX1A		Autosomal dominant nonsyndromic hearing loss 7, not provided	Benign (Aug 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12521478.	NM_177398.4(LMX1A):c.349C>T (p.Leu117=) GRCh37: Chr1:165218792 GRCh38: Chr1:165249555	LMX1A		not provided, Autosomal dominant nonsyndromic hearing loss 7	Benign (Aug 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 8125169.	NM_177398.4(LMX1A):c.290G>C (p.Cys97Ser) GRCh37: Chr1:165218851 GRCh38: Chr1:165249614	LMX1A	C97S	Autosomal dominant nonsyndromic hearing loss 7	Pathogenic (Feb 12, 2020)	no assertion criteria provided
Select item 81251510.	NM_177398.4(LMX1A):c.721G>C (p.Val241Leu) GRCh37: Chr1:165179962 GRCh38: Chr1:165210725	LMX1A, LMX1A-AS2	V241L	Autosomal dominant nonsyndromic hearing loss 7	Pathogenic (Feb 12, 2020)	no assertion criteria provided