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

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Items: 32

	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
Select item 3262890	NM_001080543.2(CACTIN):c.1264G>A (p.Glu422Lys)	CACTIN (E422K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262891	NM_001080543.2(CACTIN):c.1038G>C (p.Glu346Asp)	CACTIN (E346D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136557	NM_001080543.2(CACTIN):c.961G>A (p.Asp321Asn)	CACTIN (D321N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389755	NM_001080543.2(CACTIN):c.949G>A (p.Ala317Thr)	CACTIN (A317T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136556	NM_001080543.2(CACTIN):c.695G>A (p.Arg232Gln)	CACTIN (R232Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262893	NM_001080543.2(CACTIN):c.691G>A (p.Glu231Lys)	CACTIN (E231K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218323	NM_001080543.2(CACTIN):c.614A>G (p.Asn205Ser)	CACTIN (N205S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561568	NM_001080543.2(CACTIN):c.448C>T (p.Arg150Trp)	CACTIN (R150W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324206	NM_001080543.2(CACTIN):c.417C>G (p.Ser139Arg)	CACTIN (S139R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619028	NM_001080543.2(CACTIN):c.404G>A (p.Ser135Asn)	CACTIN (S135N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136555	NM_001080543.2(CACTIN):c.392C>T (p.Ala131Val)	CACTIN (A131V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378535	NM_001080543.2(CACTIN):c.388G>T (p.Ala130Ser)	CACTIN (A130S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394507	NM_001080543.2(CACTIN):c.382C>T (p.Arg128Trp)	CACTIN (R128W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262892	NM_001080543.2(CACTIN):c.365G>A (p.Gly122Glu)	CACTIN (G122E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136554	NM_001080543.2(CACTIN):c.356C>T (p.Ala119Val)	CACTIN (A119V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276616	NM_001080543.2(CACTIN):c.316G>A (p.Ala106Thr)	CACTIN (A106T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2492588	NM_001080543.2(CACTIN):c.313C>T (p.Arg105Cys)	CACTIN (R105C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462427	NM_001080543.2(CACTIN):c.305G>A (p.Arg102Gln)	CACTIN (R102Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136553	NM_001080543.2(CACTIN):c.282G>T (p.Gln94His)	CACTIN (Q94H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136552	NM_001080543.2(CACTIN):c.227G>A (p.Arg76Gln)	CACTIN (R76Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235052	NM_001080543.2(CACTIN):c.118C>T (p.Arg40Trp)	CACTIN (R40W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 32