Related gene-specific medical variations for Gene (Select 57325) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3041647	NM_001164811.2(PET117):c.6T>C (p.Ser2=)	KAT14, PET117	Single nucleotide variant (synonymous variant +2 more)	PET117-related disorder	GLikely benign
Select item 2652220	NM_001392073.1(KAT14):c.253C>T (p.Pro85Ser)	KAT14, PET117 (P85S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2652219	NM_001164811.2(PET117):c.63C>T (p.Ala21=)	KAT14, PET117	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2621468	NM_001164811.2(PET117):c.104G>C (p.Arg35Pro)	KAT14, PET117 (R35P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485870	NM_001164811.2(PET117):c.31C>T (p.Leu11Phe)	KAT14, PET117 (L11F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2481442	NM_001164811.2(PET117):c.208G>A (p.Glu70Lys)	KAT14, PET117 (E70K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364237	NM_001164811.2(PET117):c.157C>T (p.Arg53Cys)	KAT14, PET117 (R53C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349715	NM_001164811.2(PET117):c.139C>T (p.Arg47Trp)	KAT14, PET117 (R47W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 981504	NM_001164811.2(PET117):c.172C>T (p.Gln58Ter)	KAT14, PET117 (Q58*)	Single nucleotide variant (nonsense +1 more)	Mitochondrial complex 4 deficiency, nuclear type 19	GLikely pathogenic
Select item 726026	NM_001164811.2(PET117):c.157C>G (p.Arg53Gly)	KAT14, PET117 (R53G)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign