"Ambry Genetics"[submitter] AND "LOC130005398"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2391379	NM_138421.3(SAAL1):c.112G>A (p.Gly38Ser)	LOC130005398, SAAL1 (G38S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304824	NM_138421.3(SAAL1):c.34C>G (p.Arg12Gly)	LOC130005398, SAAL1 (R12G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315973	NM_138421.3(SAAL1):c.7C>T (p.Arg3Cys)	LOC130005398, SAAL1 (R3C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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