Related gene-specific medical variations for Gene (Select 5188) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3280875	NM_004564.3(GATB):c.53C>T (p.Ala18Val)	GATB, LOC129993225 (A18V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098786	NM_004564.3(GATB):c.4G>A (p.Ala2Thr)	GATB, LOC129993225 (A2T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098782	NM_004564.3(GATB):c.26G>T (p.Gly9Val)	GATB, LOC129993225 (G9V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3098776	NM_004564.3(GATB):c.149T>C (p.Leu50Pro)	GATB, LOC129993225 (L50P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057509	NM_004564.3(GATB):c.99G>A (p.Gly33=)	GATB, LOC129993225	Single nucleotide variant (synonymous variant)	GATB-related disorder	GLikely benign
Select item 3056747	NM_004564.3(GATB):c.137C>T (p.Ala46Val)	GATB, LOC129993225 (A46V)	Single nucleotide variant (missense variant)	GATB-related disorder	GBenign
Select item 3046965	NM_004564.3(GATB):c.16C>G (p.Leu6Val)	GATB, LOC129993225 (L6V)	Single nucleotide variant (missense variant)	GATB-related disorder	GLikely benign
Select item 2617606	NM_004564.3(GATB):c.32G>A (p.Arg11His)	GATB, LOC129993225 (R11H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386668	NM_004564.3(GATB):c.28T>C (p.Cys10Arg)	GATB, LOC129993225 (C10R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369012	NM_004564.3(GATB):c.25G>T (p.Gly9Cys)	GATB, LOC129993225 (G9C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2305755	NM_004564.3(GATB):c.14T>C (p.Met5Thr)	GATB, LOC129993225 (M5T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285718	NM_004564.3(GATB):c.64G>C (p.Gly22Arg)	GATB, LOC129993225 (G22R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223407	NM_004564.3(GATB):c.58G>A (p.Val20Ile)	GATB, LOC129993225 (V20I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1280003	NM_004564.3(GATB):c.89C>A (p.Ala30Asp)	GATB, LOC129993225 (A30D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1274372	NM_004564.3(GATB):c.176+7T>C	GATB, LOC129993225	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency 41 +1 more	GBenign