"ACTN1-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3040697	NM_001130004.2(ACTN1):c.2670C>T (p.Thr890=)	ACTN1	Single nucleotide variant (synonymous variant)	ACTN1-related disorder	GLikely benign
Select item 2636514	NM_001130004.2(ACTN1):c.2658G>C (p.Met886Ile)	ACTN1 (M589I +22 more)	Single nucleotide variant (missense variant)	ACTN1-related disorder	GUncertain significance
Select item 426733	NM_001130004.2(ACTN1):c.2612G>A (p.Arg871His)	ACTN1 (R871H +2 more)	Single nucleotide variant (missense variant)	ACTN1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3031552	NM_001130004.2(ACTN1):c.2587-4G>A	ACTN1	Single nucleotide variant (synonymous variant +1 more)	ACTN1-related disorder	GLikely benign
Select item 2043439	NM_001130004.2(ACTN1):c.2520C>T (p.Arg840=)	ACTN1	Single nucleotide variant (synonymous variant)	ACTN1-related disorder +1 more	GBenign/Likely benign
Select item 3040960	NM_001130004.2(ACTN1):c.2362-5C>T	ACTN1	Single nucleotide variant (intron variant)	ACTN1-related disorder	GLikely benign
Select item 666550	NM_001130004.2(ACTN1):c.2243T>A (p.Met748Lys)	ACTN1 (M748K)	Single nucleotide variant (missense variant)	ACTN1-related disorder +1 more	GLikely pathogenic
Select item 2763624	NM_001130004.2(ACTN1):c.2070C>T (p.Gly690=)	ACTN1	Single nucleotide variant (synonymous variant)	ACTN1-related disorder +1 more	GBenign/Likely benign
Select item 2628561	NM_001130004.2(ACTN1):c.1927G>A (p.Gly643Arg)	ACTN1 (G368R +10 more)	Single nucleotide variant (missense variant)	ACTN1-related disorder	GUncertain significance
Select item 732999	NM_001130004.2(ACTN1):c.1683C>T (p.Ala561=)	ACTN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2155865	NM_001130004.2(ACTN1):c.1454A>G (p.Asn485Ser)	ACTN1 (N493S +2 more)	Single nucleotide variant (missense variant)	ACTN1-related disorder +1 more	GBenign/Likely benign
Select item 708580	NM_001130004.2(ACTN1):c.1356G>A (p.Glu452=)	ACTN1	Single nucleotide variant (synonymous variant)	ACTN1-related disorder +1 more	GBenign/Likely benign
Select item 627221	NM_001130004.2(ACTN1):c.1294G>A (p.Ala432Thr)	ACTN1 (A432T)	Single nucleotide variant (missense variant)	Macrothrombocytopenia +1 more	GUncertain significance
Select item 712148	NM_001130004.2(ACTN1):c.1272C>T (p.Thr424=)	ACTN1	Single nucleotide variant (synonymous variant)	ACTN1-related disorder +1 more	GBenign
Select item 3061023	NM_001130004.2(ACTN1):c.1206G>A (p.Lys402=)	ACTN1	Single nucleotide variant (synonymous variant)	ACTN1-related disorder	GLikely benign
Select item 1684462	NM_001130004.2(ACTN1):c.1018A>G (p.Thr340Ala)	ACTN1 (T340A)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15 +1 more	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 3019101	NM_001130004.2(ACTN1):c.930A>G (p.Gln310=)	ACTN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2178943	NM_001130004.2(ACTN1):c.872G>A (p.Arg291His)	ACTN1 (R226H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2052337	NM_001130004.2(ACTN1):c.843G>A (p.Lys281=)	ACTN1	Single nucleotide variant (synonymous variant)	ACTN1-related disorder +1 more	GBenign
Select item 2913339	NM_001130004.2(ACTN1):c.762+6C>T	ACTN1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2635193	NM_001130004.2(ACTN1):c.758A>T (p.Gln253Leu)	ACTN1 (Q188L +6 more)	Single nucleotide variant (missense variant +1 more)	ACTN1-related disorder	GUncertain significance
Select item 3058062	NM_001130004.2(ACTN1):c.744C>T (p.Ala248=)	ACTN1	Single nucleotide variant (synonymous variant +1 more)	ACTN1-related disorder	GLikely benign
Select item 2198732	NM_001130004.2(ACTN1):c.723C>T (p.Tyr241=)	ACTN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2633717	NM_001130004.2(ACTN1):c.649G>A (p.Asp217Asn)	ACTN1 (D152N +6 more)	Single nucleotide variant (missense variant +1 more)	ACTN1-related disorder	GUncertain significance
Select item 2146504	NM_001130004.2(ACTN1):c.579C>T (p.Tyr193=)	ACTN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2967743	NM_001130004.2(ACTN1):c.420C>T (p.Ser140=)	ACTN1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2067497	NM_001130004.2(ACTN1):c.315C>A (p.Val105=)	ACTN1	Single nucleotide variant (synonymous variant)	ACTN1-related disorder +1 more	GLikely benign
Select item 3045541	NM_001130004.2(ACTN1):c.221-4del	ACTN1	Deletion (intron variant)	ACTN1-related disorder	GLikely benign
Select item 1952085	NM_001130004.2(ACTN1):c.146G>A (p.Gly49Glu)	ACTN1 (G49E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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Items: 30