"Ambry Genetics"[submitter] AND "LOC130007489"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3283169	NM_004963.4(GUCY2C):c.3044C>T (p.Thr1015Ile)	GUCY2C, LOC130007489 +1 more (T1015I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1441131	NM_004963.4(GUCY2C):c.3038C>G (p.Pro1013Arg)	GUCY2C, LOC130007489 +1 more (P1013R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance