LMX1A[gene] and "single gene"[properties] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 517667	NM_177398.4(LMX1A):c.1106T>C (p.Ile369Thr)	LMX1A (I369T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2221388	NM_177398.4(LMX1A):c.1093G>A (p.Val365Met)	LMX1A (V365M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544641	NM_177398.4(LMX1A):c.1060G>A (p.Ala354Thr)	LMX1A (A354T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2546307	NM_177398.4(LMX1A):c.1025A>G (p.Asp342Gly)	LMX1A (D342G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493090	NM_177398.4(LMX1A):c.1021G>C (p.Asp341His)	LMX1A (D341H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525464	NM_177398.4(LMX1A):c.994G>A (p.Glu332Lys)	LMX1A (E332K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1249515	NM_177398.4(LMX1A):c.669+132C>T	LMX1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297934	NM_177398.4(LMX1A):c.669+107G>A	LMX1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2620268	NM_177398.4(LMX1A):c.642T>G (p.Phe214Leu)	LMX1A (F214L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050609	NM_177398.4(LMX1A):c.639A>C (p.Ser213=)	LMX1A	Single nucleotide variant (synonymous variant)	LMX1A-related disorder	GLikely benign
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 2639525	NM_177398.4(LMX1A):c.594G>A (p.Pro198=)	LMX1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3355759	NM_177398.4(LMX1A):c.581G>A (p.Arg194His)	LMX1A (R194H)	Single nucleotide variant (missense variant)	LMX1A-related disorder	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 3358572	NM_177398.4(LMX1A):c.580C>T (p.Arg194Cys)	LMX1A (R194C)	Single nucleotide variant (missense variant)	LMX1A-related disorder	GUncertain significance
Select item 2310093	NM_177398.4(LMX1A):c.580C>G (p.Arg194Gly)	LMX1A (R194G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119450	NM_177398.4(LMX1A):c.571G>A (p.Asp191Asn)	LMX1A (D191N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048089	NM_177398.4(LMX1A):c.554CTG[1] (p.Ala186del)	LMX1A (A186del)	Microsatellite	LMX1A-related disorder	GLikely benign
Select item 3119449	NM_177398.4(LMX1A):c.535C>T (p.His179Tyr)	LMX1A (H179Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1240781	NM_177398.4(LMX1A):c.496+156_496+168del	LMX1A	Deletion (intron variant)	not provided	GBenign
Select item 1253006	NM_177398.4(LMX1A):c.496+112T>C	LMX1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283936	NM_177398.4(LMX1A):c.496+11G>C	LMX1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3119447	NM_177398.4(LMX1A):c.488C>T (p.Ser163Leu)	LMX1A (S163L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1225155	NM_177398.4(LMX1A):c.462G>A (p.Leu154=)	LMX1A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3351154	NM_177398.4(LMX1A):c.454C>T (p.Arg152Trp)	LMX1A (R152W)	Single nucleotide variant (missense variant)	LMX1A-related disorder	GUncertain significance
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 3039010	NM_177398.4(LMX1A):c.339T>C (p.Ser113=)	LMX1A	Single nucleotide variant (synonymous variant)	LMX1A-related disorder	GBenign
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 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 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 2598883	NM_177398.4(LMX1A):c.286G>A (p.Gly96Ser)	LMX1A (G96S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1240589	NM_177398.4(LMX1A):c.264-102T>A	LMX1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279303	NM_177398.4(LMX1A):c.264-152T>C	LMX1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1801394	NM_177398.4(LMX1A):c.263+5059_263+5145del	LMX1A	Deletion (intron variant)	Schizophrenia	GUncertain significance
Select item 3346050	NM_177398.4(LMX1A):c.263+3_263+6del	LMX1A	Microsatellite (splice donor variant)	LMX1A-related disorder	GUncertain significance
Select item 3291023	NM_177398.4(LMX1A):c.159C>G (p.Ser53Arg)	LMX1A (S53R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2635694	NM_177398.4(LMX1A):c.146G>A (p.Arg49Gln)	LMX1A (R49Q)	Single nucleotide variant (missense variant)	LMX1A-related disorder	GUncertain significance
Select item 2636115	NM_177398.4(LMX1A):c.95A>G (p.Lys32Arg)	LMX1A (K32R)	Single nucleotide variant (missense variant)	LMX1A-related disorder	GUncertain significance
Select item 1243987	NM_177398.4(LMX1A):c.77-161dup	LMX1A	Duplication (intron variant)	not provided	GBenign
Select item 2358349	NM_177398.4(LMX1A):c.11G>C (p.Gly4Ala)	LMX1A (G4A)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 726824	NM_177398.4(LMX1A):c.9C>T (p.Asp3=)	LMX1A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1230685	NM_177398.4(LMX1A):c.-22-184C>T	LMX1A	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 44