"Ambry Genetics"[submitter] AND "GATB"[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2271688	NM_004564.3(GATB):c.1654G>A (p.Glu552Lys)	GATB (E507K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098778	NM_004564.3(GATB):c.1622G>C (p.Arg541Pro)	GATB (R541P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098777	NM_004564.3(GATB):c.1622G>A (p.Arg541Gln)	GATB (R496Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592599	NM_004564.3(GATB):c.1604G>A (p.Arg535Gln)	GATB (R490Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280874	NM_004564.3(GATB):c.1555G>A (p.Val519Met)	GATB (V474M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295624	NM_004564.3(GATB):c.1506G>T (p.Glu502Asp)	GATB (E502D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400119	NM_004564.3(GATB):c.1479A>T (p.Glu493Asp)	GATB (E493D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476620	NM_004564.3(GATB):c.1351C>T (p.Leu451Phe)	GATB (L451F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603900	NM_004564.3(GATB):c.1163A>C (p.Tyr388Ser)	GATB (Y388S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378710	NM_004564.3(GATB):c.1160A>T (p.Gln387Leu)	GATB (Q387L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217399	NM_004564.3(GATB):c.1121C>T (p.Pro374Leu)	GATB (P374L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341883	NM_004564.3(GATB):c.1066G>A (p.Ala356Thr)	GATB (A356T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617069	NM_004564.3(GATB):c.1026C>G (p.Asn342Lys)	GATB (N342K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275640	NM_004564.3(GATB):c.941G>A (p.Arg314His)	GATB (R314H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223291	NM_004564.3(GATB):c.827G>A (p.Arg276Gln)	GATB (R276Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655128	NM_004564.3(GATB):c.823G>A (p.Val275Ile)	GATB (V275I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3098788	NM_004564.3(GATB):c.788A>G (p.Asn263Ser)	GATB (N263S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618174	NM_004564.3(GATB):c.707T>A (p.Val236Asp)	GATB (V236D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282053	NM_004564.3(GATB):c.688G>A (p.Glu230Lys)	GATB (E230K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286986	NM_004564.3(GATB):c.622A>G (p.Ile208Val)	GATB (I208V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376281	NM_004564.3(GATB):c.545C>T (p.Thr182Met)	GATB (T182M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098787	NM_004564.3(GATB):c.536T>A (p.Ile179Asn)	GATB (I179N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491708	NM_004564.3(GATB):c.532G>A (p.Val178Met)	GATB (V178M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2557185	NM_004564.3(GATB):c.512C>T (p.Ala171Val)	GATB (A171V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2350044	NM_004564.3(GATB):c.498A>G (p.Ile166Met)	GATB (I166M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098785	NM_004564.3(GATB):c.424T>G (p.Phe142Val)	GATB (F142V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280876	NM_004564.3(GATB):c.398A>T (p.Lys133Met)	GATB (K133M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492362	NM_004564.3(GATB):c.342G>T (p.Arg114Ser)	GATB (R114S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098784	NM_004564.3(GATB):c.326C>T (p.Pro109Leu)	GATB (P109L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098783	NM_004564.3(GATB):c.310C>G (p.Leu104Val)	GATB (L104V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457552	NM_004564.3(GATB):c.275C>T (p.Pro92Leu)	GATB (P92L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300300	NM_004564.3(GATB):c.262C>T (p.Arg88Cys)	GATB (R88C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098781	NM_004564.3(GATB):c.257A>C (p.Gln86Pro)	GATB (Q86P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098780	NM_004564.3(GATB):c.202G>A (p.Gly68Ser)	GATB (G68S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098779	NM_004564.3(GATB):c.196G>A (p.Val66Met)	GATB (V66M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221069	NM_004564.3(GATB):c.191C>T (p.Ala64Val)	GATB (A64V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 3280875	NM_004564.3(GATB):c.53C>T (p.Ala18Val)	GATB, LOC129993225 (A18V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3098782	NM_004564.3(GATB):c.26G>T (p.Gly9Val)	GATB, LOC129993225 (G9V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3098786	NM_004564.3(GATB):c.4G>A (p.Ala2Thr)	GATB, LOC129993225 (A2T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

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Search results

Items: 46