"Ambry Genetics"[submitter] AND "CACTIN-AS1"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2276502	NM_001080543.2(CACTIN):c.2197C>T (p.Arg733Cys)	CACTIN, CACTIN-AS1 (R733C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3136551	NM_001080543.2(CACTIN):c.2165A>G (p.Lys722Arg)	CACTIN, CACTIN-AS1 (K722R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2592707	NM_001080543.2(CACTIN):c.2133C>G (p.His711Gln)	CACTIN, CACTIN-AS1 (H711Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2597188	NM_001080543.2(CACTIN):c.1832A>G (p.Lys611Arg)	CACTIN, CACTIN-AS1 (K611R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369514	NM_001080543.2(CACTIN):c.1831A>C (p.Lys611Gln)	CACTIN, CACTIN-AS1 (K611Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136549	NM_001080543.2(CACTIN):c.1737T>A (p.Asp579Glu)	CACTIN, CACTIN-AS1 (D579E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2384485	NM_001080543.2(CACTIN):c.1550T>C (p.Val517Ala)	CACTIN, CACTIN-AS1 (V517A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3136548	NM_001080543.2(CACTIN):c.1508C>G (p.Pro503Arg)	CACTIN, CACTIN-AS1 (P503R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2406665	NM_001080543.2(CACTIN):c.1463A>T (p.Gln488Leu)	CACTIN, CACTIN-AS1 (Q488L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2623758	NM_001080543.2(CACTIN):c.1424A>G (p.Glu475Gly)	CACTIN, CACTIN-AS1 (E475G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3136547	NM_001080543.2(CACTIN):c.1411G>C (p.Glu471Gln)	CACTIN, CACTIN-AS1 (E471Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance