Related gene-specific medical variations for Gene (Select 161823) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2369620	NM_014793.5(LCMT2):c.37G>C (p.Val13Leu)	ADAL, LCMT2 (V13L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2351505	NM_014793.5(LCMT2):c.109T>C (p.Phe37Leu)	ADAL, LCMT2 (F37L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2209731	NM_014793.5(LCMT2):c.134C>T (p.Ala45Val)	LCMT2, ADAL (A45V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2209117	NM_014793.5(LCMT2):c.137C>T (p.Ala46Val)	ADAL, LCMT2 (A46V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2207081	NM_014793.5(LCMT2):c.4G>A (p.Gly2Ser)	ADAL, LCMT2 (G2S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance

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