Related gene-specific medical variations for Gene (Select 123283) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3173941	NM_152334.3(TARS3):c.257A>G (p.Glu86Gly)	LOC130058081, TARS3 (E86G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173939	NM_152334.3(TARS3):c.227C>T (p.Ala76Val)	LOC130058081, TARS3 (A76V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173922	NM_152334.3(TARS3):c.146G>T (p.Cys49Phe)	LOC130058081, TARS3 (C49F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173919	NM_152334.3(TARS3):c.134C>G (p.Ala45Gly)	LOC130058081, TARS3 (A45G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173918	NM_152334.3(TARS3):c.134C>A (p.Ala45Glu)	LOC130058081, TARS3 (A45E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173916	NM_152334.3(TARS3):c.131A>G (p.Gln44Arg)	LOC130058081, TARS3 (Q44R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1340589	GRCh37/hg19 15q26.3(chr15:102194980-102278574)x1	TARS3	Copy number loss	not provided	GLikely benign
Select item 147947	GRCh38/hg38 15q26.3(chr15:101686039-101723215)x3	TARS3	Copy number gain	See cases	GConflicting classifications of pathogenicity
Select item 147118	GRCh38/hg38 15q26.3(chr15:101694128-101723186)x3	TARS3	Copy number gain	See cases	GBenign
Select item 57055	GRCh38/hg38 15q26.3(chr15:101666117-101723215)x3	TARS3	Copy number gain	See cases	GBenign