"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "ABAT"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 320840	NM_020686.6(ABAT):c.129G>A (p.Gly43=)	ABAT	Single nucleotide variant (synonymous variant +2 more)	Gamma-aminobutyric acid transaminase deficiency +1 more	GBenign
Select item 1162786	NM_020686.6(ABAT):c.163T>C (p.Ser55Pro)	ABAT (S10P +1 more)	Single nucleotide variant (missense variant +1 more)	Gamma-aminobutyric acid transaminase deficiency +1 more	GUncertain significance
Select item 320841	NM_020686.6(ABAT):c.167A>G (p.Gln56Arg)	ABAT (Q56R +1 more)	Single nucleotide variant (missense variant +1 more)	Gamma-aminobutyric acid transaminase deficiency +1 more	GBenign
Select item 320843	NM_020686.6(ABAT):c.169-5T>C	ABAT	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 641881	NM_020686.6(ABAT):c.190A>G (p.Ile64Val)	ABAT (I64V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 320845	NM_020686.6(ABAT):c.309C>T (p.Val103=)	ABAT	Single nucleotide variant (synonymous variant +1 more)	Gamma-aminobutyric acid transaminase deficiency +1 more	GBenign
Select item 235392	NM_020686.6(ABAT):c.603+3G>A	ABAT	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 559207	NM_020686.6(ABAT):c.648G>A (p.Ala216=)	ABAT	Single nucleotide variant (synonymous variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 529796	NM_020686.6(ABAT):c.817-6A>G	ABAT	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 321082	NM_020686.6(ABAT):c.984C>A (p.Val328=)	ABAT	Single nucleotide variant (synonymous variant)	Gamma-aminobutyric acid transaminase deficiency +1 more	GBenign
Select item 321085	NM_020686.6(ABAT):c.1147C>T (p.Leu383=)	ABAT	Single nucleotide variant (synonymous variant)	Gamma-aminobutyric acid transaminase deficiency +1 more	GBenign
Select item 1162787	NM_020686.6(ABAT):c.1202G>A (p.Arg401Gln)	ABAT (R319Q +7 more)	Single nucleotide variant (missense variant)	Gamma-aminobutyric acid transaminase deficiency +1 more	GUncertain significance
Select item 321087	NM_020686.6(ABAT):c.1269+4A>C	ABAT	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 321088	NM_020686.6(ABAT):c.1270-4A>G	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency +1 more	GBenign
Select item 559208	NM_020686.6(ABAT):c.1326C>T (p.Phe442=)	ABAT	Single nucleotide variant (synonymous variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 3380370	NM_020686.6(ABAT):c.1331C>A (p.Thr444Asn)	ABAT (T362N +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 321090	NM_020686.6(ABAT):c.1381+9T>C	ABAT	Single nucleotide variant (intron variant)	not provided +1 more	GBenign