"Ambry Genetics"[submitter] AND "LOC130056991"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2488768	NM_001482.3(GATM):c.65C>T (p.Ser22Phe)	GATM, LOC130056991 (S22F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2177839	NM_001482.3(GATM):c.49G>T (p.Val17Leu)	GATM, LOC130056991 (V17L)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 137453	NM_001482.3(GATM):c.48G>T (p.Ala16=)	GATM, LOC130056991	Single nucleotide variant (synonymous variant +1 more)	Fanconi renotubular syndrome 1 +3 more	GBenign/Likely benign
Select item 1734068	NM_001482.3(GATM):c.36C>T (p.Arg12=)	GATM, LOC130056991	Single nucleotide variant (synonymous variant +1 more)	Arginine:glycine amidinotransferase deficiency +1 more	GLikely benign
Select item 205621	NM_001482.3(GATM):c.7C>G (p.Arg3Gly)	GATM, LOC130056991 (R3G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 431820	NM_001482.3(GATM):c.-1G>A	GATM, LOC130056991	Single nucleotide variant (5 prime UTR variant +1 more)	Fanconi renotubular syndrome 1 +3 more	GUncertain significance

ClinVar