C2751260[trait identifier] AND "NIHR Bioresource Rare Diseases, Univer - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 13529	NM_000174.5(GP9):c.182A>G (p.Asn61Ser)	GP9 (N61S)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 13531	NM_000174.5(GP9):c.212T>C (p.Phe71Ser)	GP9 (F71S)	Single nucleotide variant (missense variant)	Macrothrombocytopenia +2 more	GPathogenic
Select item 627388	NM_000460.4(THPO):c.805dup (p.Leu269fs)	THPO (L269fs +2 more)	Duplication (frameshift variant)	Macrothrombocytopenia	GUncertain significance
Select item 627348	NM_000460.4(THPO):c.610dup (p.Glu204fs)	THPO (E200fs +4 more)	Duplication (frameshift variant)	Macrothrombocytopenia	GUncertain significance
Select item 627499	NM_005219.5(DIAPH1):c.3575-50_3661+36inv	DIAPH1	Inversion (splice acceptor variant +1 more)	Macrothrombocytopenia	GLikely pathogenic
Select item 812965	NM_005219.5(DIAPH1):c.3629_3630del (p.Ala1210fs)	DIAPH1 (A1210fs +1 more)	Deletion (frameshift variant)	Hearing impairment +1 more	GLikely pathogenic
Select item 627285	NM_001130004.2(ACTN1):c.2587-26C>T	ACTN1	Single nucleotide variant (intron variant)	Macrothrombocytopenia	GUncertain significance
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 627277	NM_001130004.2(ACTN1):c.2209A>G (p.Thr737Ala)	ACTN1 (T737A)	Single nucleotide variant (missense variant)	Macrothrombocytopenia	GUncertain significance
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 627019	NM_001130004.2(ACTN1):c.1770C>A (p.Asn590Lys)	ACTN1 (N590K)	Single nucleotide variant (missense variant)	Thrombocytopenia	GUncertain significance
Select item 627171	NM_001130004.2(ACTN1):c.1640T>C (p.Leu547Pro)	ACTN1 (L547P)	Single nucleotide variant (missense variant)	Macrothrombocytopenia	GLikely pathogenic
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 627192	NM_001130004.2(ACTN1):c.1027A>T (p.Thr343Ser)	ACTN1 (T343S)	Single nucleotide variant (missense variant)	Macrothrombocytopenia	GUncertain significance
Select item 812968	NM_001130004.2(ACTN1):c.1019C>T (p.Thr340Met)	ACTN1 (T340M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 42033	NM_001130004.2(ACTN1):c.673G>A (p.Glu225Lys)	ACTN1 (E225K)	Single nucleotide variant (missense variant)	Macrothrombocytopenia +1 more	GPathogenic
Select item 627350	NM_001130004.2(ACTN1):c.650A>G (p.Asp217Gly)	ACTN1 (D217G)	Single nucleotide variant (missense variant)	Macrothrombocytopenia	GUncertain significance
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
Select item 627294	NM_001130004.2(ACTN1):c.299T>C (p.Ile100Thr)	ACTN1 (I100T)	Single nucleotide variant (missense variant)	Macrothrombocytopenia	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 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 627167	NM_000173.7(GP1BA):c.98G>C (p.Cys33Ser)	GP1BA (C33S)	Single nucleotide variant (missense variant)	Macrothrombocytopenia	GLikely pathogenic
Select item 627001	NM_000173.7(GP1BA):c.148_149del (p.Thr50fs)	GP1BA (T50fs)	Deletion (frameshift variant)	Macrothrombocytopenia	GPathogenic
Select item 627016	NM_000173.7(GP1BA):c.171C>A (p.Asn57Lys)	GP1BA (N57K)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 627031	NM_000173.7(GP1BA):c.200T>G (p.Leu67Arg)	GP1BA (L67R)	Single nucleotide variant (missense variant)	Macrothrombocytopenia	GUncertain significance
Select item 4154	NM_000173.7(GP1BA):c.217C>T (p.Leu73Phe)	GP1BA (L73F)	Single nucleotide variant (missense variant)	Macrothrombocytopenia +1 more	GLikely pathogenic
Select item 627076	NM_000173.7(GP1BA):c.449A>G (p.Asn150Ser)	GP1BA (N150S)	Single nucleotide variant (missense variant)	Macrothrombocytopenia +2 more	GLikely pathogenic
Select item 627355	NM_000173.7(GP1BA):c.658G>A (p.Gly220Arg)	GP1BA (G220R)	Single nucleotide variant (missense variant)	Macrothrombocytopenia +1 more	GUncertain significance
Select item 627293	NM_000419.5(ITGA2B):c.2995T>C (p.Trp999Arg)	ITGA2B (W999R)	Single nucleotide variant (missense variant)	Macrothrombocytopenia	GUncertain significance
Select item 627273	NM_000419.5(ITGA2B):c.2148dup (p.Leu717fs)	ITGA2B (L717fs)	Duplication (frameshift variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 627240	NM_000212.3(ITGB3):c.1447T>C (p.Cys483Arg)	ITGB3 (C483R)	Single nucleotide variant (missense variant)	Macrothrombocytopenia	GUncertain significance
Select item 627261	NM_000212.3(ITGB3):c.1807G>A (p.Gly603Ser)	ITGB3 (G603S)	Single nucleotide variant (missense variant)	Macrothrombocytopenia +1 more	GUncertain significance
Select item 627509	NM_000212.3(ITGB3):c.2015-29_2134+24del	ITGB3	Deletion (splice acceptor variant +1 more)	Macrothrombocytopenia	GLikely pathogenic
Select item 627037	NM_030773.4(TUBB1):c.229C>T (p.Arg77Ter)	TUBB1 (R77*)	Single nucleotide variant (nonsense)	Macrothrombocytopenia, isolated, 1, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 812737	NM_030773.4(TUBB1):c.297C>A (p.Asn99Lys)	TUBB1 (N99K)	Single nucleotide variant (missense variant)	Macrothrombocytopenia	GLikely pathogenic
Select item 626929	NM_030773.4(TUBB1):c.326G>A (p.Gly109Glu)	TUBB1 (G109E)	Single nucleotide variant (missense variant)	Thrombocytopenia +3 more	GConflicting classifications of pathogenicity
Select item 627307	NM_030773.4(TUBB1):c.421G>C (p.Gly141Arg)	TUBB1 (G141R)	Single nucleotide variant (missense variant)	Macrothrombocytopenia	GUncertain significance
Select item 627071	NM_030773.4(TUBB1):c.436G>A (p.Gly146Arg)	TUBB1 (G146R)	Single nucleotide variant (missense variant)	Macrothrombocytopenia, isolated, 1, autosomal dominant +3 more	GConflicting classifications of pathogenicity
Select item 627077	NM_030773.4(TUBB1):c.483C>A (p.Asp161Glu)	TUBB1 (D161E)	Single nucleotide variant (missense variant)	Macrothrombocytopenia	GUncertain significance
Select item 627090	NM_030773.4(TUBB1):c.554C>T (p.Ala185Val)	TUBB1 (A185V)	Single nucleotide variant (missense variant)	Macrothrombocytopenia +2 more	GUncertain significance
Select item 813272	NM_030773.4(TUBB1):c.704del (p.Gly235fs)	TUBB1 (G235fs)	Deletion (frameshift variant)	Macrothrombocytopenia	GLikely pathogenic
Select item 627129	NM_030773.4(TUBB1):c.752G>A (p.Arg251His)	TUBB1 (R251H)	Single nucleotide variant (missense variant)	Macrothrombocytopenia	GUncertain significance
Select item 627132	NM_030773.4(TUBB1):c.766A>G (p.Asn256Asp)	TUBB1 (N256D)	Single nucleotide variant (missense variant)	Macrothrombocytopenia	GUncertain significance
Select item 425	NM_030773.4(TUBB1):c.952C>T (p.Arg318Trp)	TUBB1 (R318W)	Single nucleotide variant (missense variant)	Macrothrombocytopenia +2 more	GPathogenic/Likely pathogenic
Select item 627197	NM_030773.4(TUBB1):c.1041C>G (p.Asn347Lys)	TUBB1 (N347K)	Single nucleotide variant (missense variant)	Macrothrombocytopenia	GUncertain significance
Select item 626979	NM_030773.4(TUBB1):c.1194del (p.Trp397_Tyr398insTer)	TUBB1	Deletion (nonsense)	Macrothrombocytopenia	GLikely pathogenic
Select item 627512	NC_000022.11:g.19721912_19724790del	GP1BB, SEPT5-GP1BB +1 more	Deletion	Macrothrombocytopenia +1 more	GConflicting classifications of pathogenicity
Select item 812741	NM_000407.5(GP1BB):c.3G>C (p.Met1Ile)	GP1BB, SEPT5-GP1BB (M1I)	Single nucleotide variant (non-coding transcript variant +2 more)	Macrothrombocytopenia	GLikely pathogenic
Select item 627320	NM_000407.5(GP1BB):c.47T>C (p.Leu16Pro)	GP1BB, SEPT5-GP1BB (L16P)	Single nucleotide variant (non-coding transcript variant +1 more)	Thrombocytopenia +2 more	GPathogenic/Likely pathogenic
Select item 812969	NM_000407.5(GP1BB):c.69_83del (p.Ala24_Ala28del)	GP1BB, SEPT5-GP1BB	Deletion (non-coding transcript variant +1 more)	Macrothrombocytopenia	GLikely pathogenic
Select item 812970	NM_000407.5(GP1BB):c.127G>T (p.Gly43Trp)	GP1BB, SEPT5-GP1BB (G43W)	Single nucleotide variant (non-coding transcript variant +1 more)	Macrothrombocytopenia	GConflicting classifications of pathogenicity
Select item 16040	NM_000407.5(GP1BB):c.137G>A (p.Trp46Ter)	GP1BB, SEPT5-GP1BB (W46*)	Single nucleotide variant (non-coding transcript variant +1 more)	Bernard Soulier syndrome +1 more	GLikely pathogenic
Select item 812971	NM_000407.5(GP1BB):c.203C>T (p.Thr68Met)	GP1BB, SEPT5-GP1BB (T68M)	Single nucleotide variant (non-coding transcript variant +1 more)	Macrothrombocytopenia	GLikely pathogenic
Select item 627297	NM_000407.5(GP1BB):c.307T>C (p.Trp103Arg)	GP1BB, SEPT5-GP1BB (W103R)	Single nucleotide variant (non-coding transcript variant +1 more)	Macrothrombocytopenia	GUncertain significance
Select item 627056	NM_000407.5(GP1BB):c.395T>A (p.Leu132Gln)	GP1BB, SEPT5-GP1BB (L132Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Thrombocytopenia	GLikely pathogenic
Select item 627075	NM_000407.5(GP1BB):c.448del (p.Ala150fs)	GP1BB, SEPT5-GP1BB (A150fs)	Deletion (non-coding transcript variant +1 more)	Thrombocytopenia	GLikely pathogenic
Select item 627087	NM_000407.5(GP1BB):c.515T>C (p.Leu172Pro)	GP1BB, SEPT5-GP1BB (L172P)	Single nucleotide variant (non-coding transcript variant +1 more)	Macrothrombocytopenia	GUncertain significance
Select item 627091	NM_000407.5(GP1BB):c.555_556insA (p.Ala186fs)	GP1BB, SEPT5-GP1BB (A186fs)	Insertion (non-coding transcript variant +1 more)	Macrothrombocytopenia	GLikely pathogenic
Select item 627083	NM_002473.6(MYH9):c.5074G>A (p.Ala1692Thr)	MYH9 (A1692T)	Single nucleotide variant (missense variant)	MYH9-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 627310	NM_002473.6(MYH9):c.4519G>C (p.Glu1507Gln)	MYH9 (E1507Q)	Single nucleotide variant (missense variant)	Macrothrombocytopenia	GUncertain significance
Select item 623100	NM_002473.6(MYH9):c.4262A>C (p.Glu1421Ala)	MYH9 (E1421A)	Single nucleotide variant (missense variant)	MYH9-related disorder +1 more	GUncertain significance
Select item 627042	NM_002473.6(MYH9):c.2403G>T (p.Lys801Asn)	MYH9 (K801N)	Single nucleotide variant (missense variant)	Macrothrombocytopenia	GUncertain significance
Select item 627223	NM_002473.6(MYH9):c.130_131delinsCT (p.Ala44Leu)	MYH9 (A44L)	Indel (missense variant)	Macrothrombocytopenia	GUncertain significance
Select item 627352	NM_002049.4(GATA1):c.652G>A (p.Asp218Asn)	GATA1 (D218N)	Single nucleotide variant (missense variant)	Macrothrombocytopenia +1 more	GConflicting classifications of pathogenicity
Select item 627395	NM_002049.4(GATA1):c.824G>C (p.Gly275Ala)	GATA1 (G275A)	Single nucleotide variant (missense variant)	Macrothrombocytopenia	GUncertain significance
Select item 577159	NM_001110556.2(FLNA):c.6776T>C (p.Phe2259Ser)	FLNA (F2259S +1 more)	Single nucleotide variant (missense variant)	FLNA-related disorder +5 more	GUncertain significance

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Items: 68