"Hematology laboratory, Robert Debré Hospital"[submitter] AND "ACTN1"[ - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 666549	NM_001130004.1(ACTN1):c.[2156A>C;2157G>C]	ACTN1 (Q719H +1 more)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15	GLikely pathogenic
Select item 666548	NM_001130004.2(ACTN1):c.1864C>T (p.His622Tyr)	ACTN1 (H622Y)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15	GLikely pathogenic
Select item 666547	NM_001130004.2(ACTN1):c.1349G>A (p.Arg450His)	ACTN1 (R450H)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15 +1 more	GConflicting classifications of pathogenicity
Select item 666546	NM_001130004.2(ACTN1):c.1348C>T (p.Arg450Cys)	ACTN1 (R450C)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15	GPathogenic/Likely pathogenic
Select item 666545	NM_001130004.2(ACTN1):c.1295C>T (p.Ala432Val)	ACTN1 (A432V)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15	GLikely pathogenic
Select item 666544	NM_001130004.2(ACTN1):c.1193A>C (p.Lys398Thr)	ACTN1 (K398T)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15	GLikely pathogenic
Select item 666543	NM_001130004.2(ACTN1):c.986A>G (p.Gln329Arg)	ACTN1 (Q329R)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15	GLikely pathogenic
Select item 666542	NM_001130004.2(ACTN1):c.982G>A (p.Val328Met)	ACTN1 (V328M)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15 +1 more	GConflicting classifications of pathogenicity
Select item 666541	NM_001130004.2(ACTN1):c.970A>G (p.Lys324Glu)	ACTN1 (K324E)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15	GLikely pathogenic
Select item 627135	NM_001130004.2(ACTN1):c.770C>G (p.Thr257Arg)	ACTN1 (T257R)	Single nucleotide variant (missense variant)	Macrothrombocytopenia +1 more	GConflicting classifications of pathogenicity