Related gene-specific medical variations for Gene (Select 4009) - ClinVar

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Links from Gene

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377593	NM_177398.4(LMX1A):c.915T>G (p.Ser305Arg)	LMX1A, LMX1A-AS2 (S305R)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 7	GUncertain significance
Select item 3291025	NM_177398.4(LMX1A):c.847A>T (p.Met283Leu)	LMX1A, LMX1A-AS2 (M283L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291024	NM_177398.4(LMX1A):c.923G>T (p.Ser308Ile)	LMX1A, LMX1A-AS2 (S308I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3239234	NM_177398.4(LMX1A):c.714C>T (p.Val238=)	LMX1A, LMX1A-AS2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3119452	NM_177398.4(LMX1A):c.849G>A (p.Met283Ile)	LMX1A, LMX1A-AS2 (M283I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119451	NM_177398.4(LMX1A):c.818C>T (p.Ala273Val)	LMX1A, LMX1A-AS2 (A273V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048621	NM_177398.4(LMX1A):c.883A>C (p.Thr295Pro)	LMX1A, LMX1A-AS2 (T295P)	Single nucleotide variant (missense variant)	LMX1A-related disorder	GLikely benign
Select item 3042090	NM_177398.4(LMX1A):c.744G>A (p.Ala248=)	LMX1A, LMX1A-AS2	Single nucleotide variant (synonymous variant)	LMX1A-related disorder	GLikely benign
Select item 3029574	NM_177398.4(LMX1A):c.771GCA[6] (p.Gln262_Asp263insGln)	LMX1A, LMX1A-AS2	Microsatellite	LMX1A-related disorder	GLikely benign
Select item 3024964	NM_177398.4(LMX1A):c.747+5C>T	LMX1A, LMX1A-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2636020	NM_177398.4(LMX1A):c.938G>A (p.Arg313Gln)	LMX1A, LMX1A-AS2 (R313Q)	Single nucleotide variant (missense variant)	LMX1A-related disorder	GUncertain significance
Select item 2576012	NM_177398.4(LMX1A):c.766C>T (p.Arg256Ter)	LMX1A, LMX1A-AS2 (R256*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
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 2310750	NM_177398.4(LMX1A):c.872C>T (p.Thr291Met)	LMX1A, LMX1A-AS2 (T291M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213477	NM_177398.4(LMX1A):c.898C>A (p.Leu300Met)	LMX1A, LMX1A-AS2 (L300M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1801394	NM_177398.4(LMX1A):c.263+5059_263+5145del	LMX1A	Deletion (intron variant)	Schizophrenia	GUncertain significance
Select item 1294822	NM_177398.4(LMX1A):c.818-103C>T	LMX1A, LMX1A-AS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294821	NM_177398.4(LMX1A):c.817+130A>G	LMX1A, LMX1A-AS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244331	NM_177398.4(LMX1A):c.747+62G>T	LMX1A-AS2, LMX1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236257	NM_177398.4(LMX1A):c.988+142G>A	LMX1A, LMX1A-AS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225418	NM_177398.4(LMX1A):c.670-76A>T	LMX1A, LMX1A-AS2	Single nucleotide variant (intron variant)	not provided	GBenign
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
Select item 777953	NM_177398.4(LMX1A):c.951C>T (p.Thr317=)	LMX1A, LMX1A-AS2	Single nucleotide variant (synonymous variant)	not provided	GBenign

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Links from Gene

Items: 24