ClinVar for MedGen (Select 767577) - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065299	NM_001130004.2(ACTN1):c.2504T>A (p.Ile835Asn)	ACTN1 (I538N +19 more)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15	GUncertain significance
Select item 2671630	NM_001130004.2(ACTN1):c.1684G>A (p.Asp562Asn)	ACTN1 (D287N +9 more)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 15 +1 more	GUncertain significance
Select item 2627068	NM_001130004.2(ACTN1):c.2683G>A (p.Val895Met)	ACTN1 (V598M +22 more)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15	GUncertain significance
Select item 2627055	NM_001130004.2(ACTN1):c.1973T>C (p.Ile658Thr)	ACTN1 (I383T +10 more)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15	GUncertain significance
Select item 2582773	NM_001130004.2(ACTN1):c.29A>G (p.Asn10Ser)	ACTN1 (N10S)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15	GUncertain significance
Select item 2572658	NM_001130004.2(ACTN1):c.2252T>C (p.Phe751Ser)	ACTN1 (F686S +2 more)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15	GUncertain significance
Select item 2572154	NM_001130004.2(ACTN1):c.340+10_340+13del	ACTN1	Deletion (intron variant)	Platelet-type bleeding disorder 15	GUncertain significance
Select item 2572111	NM_001130004.2(ACTN1):c.767A>C (p.Glu256Ala)	ACTN1 (E191A +1 more)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15	GUncertain significance
Select item 2438851	NM_001130004.2(ACTN1):c.2482G>A (p.Val828Ile)	ACTN1 (V741I +4 more)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15	GUncertain significance
Select item 2177527	NM_001130004.2(ACTN1):c.2474G>A (p.Arg825His)	ACTN1 (R798H +4 more)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15 +1 more	GUncertain significance
Select item 2175579	NM_001130004.2(ACTN1):c.2614C>T (p.Arg872Cys)	ACTN1 (R785C +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1957245	NM_001130004.2(ACTN1):c.127T>G (p.Ser43Ala)	ACTN1 (S43A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1805114	NM_001130004.2(ACTN1):c.631_651del (p.Val211_Asp217del)	ACTN1	Deletion (inframe_deletion +1 more)	Platelet-type bleeding disorder 15	GUncertain significance
Select item 1704200	NM_001130004.2(ACTN1):c.2551G>A (p.Val851Ile)	ACTN1 (V824I +2 more)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15	GLikely pathogenic
Select item 1703857	NM_001130004.2(ACTN1):c.2255G>C (p.Arg752Pro)	ACTN1 (R752P)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15	GUncertain significance
Select item 1693577	NM_001130004.2(ACTN1):c.342A>C (p.Glu114Asp)	ACTN1 (E114D)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15	GLikely pathogenic
Select item 1684471	NM_001130004.2(ACTN1):c.2213G>A (p.Arg738Gln)	ACTN1 (R738Q)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15	GPathogenic
Select item 1684470	NM_001130004.2(ACTN1):c.715A>G (p.Met239Val)	ACTN1 (M239V)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15	GUncertain significance
Select item 1684469	NM_001130004.2(ACTN1):c.919C>T (p.His307Tyr)	ACTN1 (H307Y)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15	GUncertain significance
Select item 1684466	NM_001130004.2(ACTN1):c.127T>A (p.Ser43Thr)	ACTN1 (S43T)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15	GLikely pathogenic
Select item 1684465	NM_001130004.2(ACTN1):c.2108A>G (p.Asn703Ser)	ACTN1 (N703S)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15	GLikely benign
Select item 1684464	NM_001130004.2(ACTN1):c.2126C>T (p.Thr709Ile)	ACTN1 (T709I)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15	GLikely benign
Select item 1684463	NM_001130004.2(ACTN1):c.384G>T (p.Trp128Cys)	ACTN1 (W128C)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15	GPathogenic
Select item 1684462	NM_001130004.2(ACTN1):c.1018A>G (p.Thr340Ala)	ACTN1 (T340A)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15	GUncertain significance
Select item 1684461	NM_001130004.2(ACTN1):c.1040T>C (p.Leu347Pro)	ACTN1 (L347P)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15	GUncertain significance
Select item 1684460	NM_001130004.2(ACTN1):c.2302C>A (p.Pro768Thr)	ACTN1 (P768T)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 15	GUncertain significance
Select item 1684409	NM_001130004.2(ACTN1):c.676+9C>T	ACTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1677254	NM_001130004.2(ACTN1):c.2658G>A (p.Met886Ile)	ACTN1 (M859I +2 more)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15	GUncertain significance
Select item 1336381	NM_001130004.2(ACTN1):c.580G>A (p.Gly194Arg)	ACTN1 (G194R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1306091	NM_001130004.2(ACTN1):c.2141G>A (p.Arg714His)	ACTN1 (R714H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 988884	NM_001130004.2(ACTN1):c.2728G>C (p.Gly910Arg)	ACTN1 (G883R +2 more)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15	GLikely pathogenic
Select item 986185	NM_001130004.2(ACTN1):c.959G>A (p.Arg320Gln)	ACTN1 (R320Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 872048	NM_001130004.2(ACTN1):c.2186A>G (p.Asn729Ser)	ACTN1 (N729S)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15 +1 more	GUncertain significance
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 627277	NM_001130004.2(ACTN1):c.2209A>G (p.Thr737Ala)	ACTN1 (T737A)	Single nucleotide variant (missense variant)	Macrothrombocytopenia	GUncertain significance
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 627217	NM_001130004.2(ACTN1):c.1181A>G (p.His394Arg)	ACTN1 (H394R)	Single nucleotide variant (missense variant)	Macrothrombocytopenia +1 more	GConflicting classifications of pathogenicity
Select item 627175	NM_001130004.2(ACTN1):c.1959C>G (p.Ile653Met)	ACTN1 (I653M)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15 +2 more	GConflicting classifications of pathogenicity
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
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 517137	NM_001130004.2(ACTN1):c.2201A>G (p.Gln734Arg)	ACTN1 (Q734R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 42033	NM_001130004.2(ACTN1):c.673G>A (p.Glu225Lys)	ACTN1 (E225K)	Single nucleotide variant (missense variant)	Macrothrombocytopenia +1 more	GPathogenic
Select item 42032	NM_001130004.2(ACTN1):c.2212C>T (p.Arg738Trp)	ACTN1 (R738W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 42031	NM_001130004.2(ACTN1):c.137G>A (p.Arg46Gln)	ACTN1 (R46Q)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 42030	NM_001130004.2(ACTN1):c.2255G>A (p.Arg752Gln)	ACTN1 (R752Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 42029	NM_001130004.2(ACTN1):c.94C>A (p.Gln32Lys)	ACTN1 (Q32K)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15	GPathogenic
Select item 42028	NM_001130004.2(ACTN1):c.313G>A (p.Val105Ile)	ACTN1 (V105I)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic

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Items: 56