Related gene-specific medical variations for Gene (Select 6897) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3173900	NM_152295.5(TARS1):c.39G>C (p.Met13Ile)	LOC129993776, TARS1 (M1I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173897	NM_152295.5(TARS1):c.26C>T (p.Pro9Leu)	LOC129993776, TARS1 (P9L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173885	NM_152295.5(TARS1):c.1501C>T (p.Arg501Cys)	LOC126807348, TARS1 (R489C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173883	NM_152295.5(TARS1):c.1309T>G (p.Phe437Val)	LOC126807348, TARS1 (F425V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173882	NM_152295.5(TARS1):c.1304C>A (p.Ala435Asp)	LOC126807348, TARS1 (A423D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173881	NM_152295.5(TARS1):c.1291C>T (p.Pro431Ser)	LOC126807348, TARS1 (P431S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173880	NM_152295.5(TARS1):c.1271C>G (p.Pro424Arg)	LOC126807348, TARS1 (P424R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173879	NM_152295.5(TARS1):c.1262A>G (p.Asp421Gly)	LOC126807348, TARS1 (D454G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3055451	NM_152295.5(TARS1):c.1506G>A (p.Pro502=)	LOC126807348, TARS1	Single nucleotide variant (synonymous variant +1 more)	TARS1-related disorder	GBenign
Select item 2524236	NM_152295.5(TARS1):c.1358C>T (p.Thr453Ile)	LOC126807348, TARS1 (T441I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478706	NM_152295.5(TARS1):c.1255A>G (p.Met419Val)	LOC126807348, TARS1 (M419V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 979506	GRCh37/hg19 5p13.3(chr5:33318611-33493797)x1	TARS1	Copy number loss	not provided	GUncertain significance