ClinVar for MedGen (Select 318614) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664708	NM_177398.4(LMX1A):c.317T>G (p.Phe106Cys)	LMX1A (F106C)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 7	GUncertain significance
Select item 2503455	NM_177398.4(LMX1A):c.937C>T (p.Arg313Ter)	LMX1A, LMX1A-AS2 (R313*)	Single nucleotide variant (nonsense)	Autosomal dominant nonsyndromic hearing loss 7	GLikely pathogenic
Select item 2433492	NM_177398.4(LMX1A):c.874G>A (p.Ala292Thr)	LMX1A, LMX1A-AS2 (A292T)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 7	GUncertain significance
Select item 1805025	NM_177398.4(LMX1A):c.581G>T (p.Arg194Leu)	LMX1A (R194L)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 7	GUncertain significance
Select item 1723178	NM_177398.4(LMX1A):c.622C>T (p.Arg208Ter)	LMX1A (R208*)	Single nucleotide variant (nonsense)	Autosomal dominant nonsyndromic hearing loss 7	GPathogenic
Select item 1705342	NM_177398.4(LMX1A):c.595A>G (p.Arg199Gly)	LMX1A (R199G)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 7	GPathogenic
Select item 1687337	NM_177398.4(LMX1A):c.331del (p.Gln111fs)	LMX1A (Q111fs)	Deletion (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 7	GLikely pathogenic
Select item 1294826	NM_177398.4(LMX1A):c.1050T>C (p.Asp350=)	LMX1A	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 7 +1 more	GBenign
Select item 1252147	NM_177398.4(LMX1A):c.349C>T (p.Leu117=)	LMX1A	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 7 +1 more	GBenign
Select item 812516	NM_177398.4(LMX1A):c.290G>C (p.Cys97Ser)	LMX1A (C97S)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 7	GPathogenic
Select item 812515	NM_177398.4(LMX1A):c.721G>C (p.Val241Leu)	LMX1A, LMX1A-AS2 (V241L)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 7	GPathogenic