"Ambry Genetics"[submitter] AND "ACTN1"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2267835	NM_001130004.2(ACTN1):c.2705T>C (p.Met902Thr)	ACTN1 (M815T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322674	NM_001130004.2(ACTN1):c.2605G>A (p.Glu869Lys)	ACTN1 (E782K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408763	NM_001130004.2(ACTN1):c.2396G>A (p.Arg799His)	ACTN1 (R799H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2389686	NM_001130004.2(ACTN1):c.2384C>T (p.Thr795Met)	ACTN1 (T768M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2609391	NM_001130004.2(ACTN1):c.2055T>G (p.Ile685Met)	ACTN1 (I410M +10 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479612	NM_001130004.2(ACTN1):c.1933T>G (p.Trp645Gly)	ACTN1 (W653G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610527	NM_001130004.2(ACTN1):c.1871G>A (p.Arg624Gln)	ACTN1 (R349Q +10 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2069017	NM_001130004.2(ACTN1):c.1856C>T (p.Thr619Met)	ACTN1 (T554M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2466017	NM_001130004.2(ACTN1):c.1822C>T (p.Arg608Trp)	ACTN1 (R616W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544026	NM_001130004.2(ACTN1):c.1787C>T (p.Thr596Met)	ACTN1 (T604M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570424	NM_001130004.2(ACTN1):c.1424G>A (p.Arg475His)	ACTN1 (R475H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985810	NM_001130004.2(ACTN1):c.1306A>G (p.Lys436Glu)	ACTN1 (K436E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401240	NM_001130004.2(ACTN1):c.1268A>G (p.Glu423Gly)	ACTN1 (E431G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 986185	NM_001130004.2(ACTN1):c.959G>A (p.Arg320Gln)	ACTN1 (R320Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2281490	NM_001130004.2(ACTN1):c.935A>G (p.Lys312Arg)	ACTN1 (K247R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2188616	NM_001130004.2(ACTN1):c.884C>T (p.Pro295Leu)	ACTN1 (P230L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2270253	NM_001130004.2(ACTN1):c.826A>G (p.Met276Val)	ACTN1 (M211V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1937568	NM_001130004.2(ACTN1):c.817G>A (p.Glu273Lys)	ACTN1 (E273K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2302107	NM_001130004.2(ACTN1):c.767A>G (p.Glu256Gly)	ACTN1 (E191G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371387	NM_001130004.2(ACTN1):c.631G>A (p.Val211Met)	ACTN1 (V146M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373612	NM_001130004.2(ACTN1):c.560G>A (p.Arg187Gln)	ACTN1 (R187Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2614441	NM_001130004.2(ACTN1):c.556C>T (p.His186Tyr)	ACTN1 (H165Y +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 626995	NM_001130004.2(ACTN1):c.136C>T (p.Arg46Trp)	ACTN1 (R46W)	Single nucleotide variant (missense variant)	Thrombocytopenia +2 more	GPathogenic/Likely pathogenic
Select item 2184415	NM_001130004.2(ACTN1):c.113C>T (p.Thr38Met)	ACTN1 (T38M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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Items: 24