ClinVar for MedGen (Select 264316) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 988883	NM_000377.3(WAS):c.1456G>A (p.Glu486Lys)	WAS (E486K)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome +3 more	GUncertain significance
Select item 988882	NM_000173.7(GP1BA):c.413G>T (p.Gly138Val)	GP1BA (G138V)	Single nucleotide variant (missense variant)	Abnormal bleeding +1 more	GLikely pathogenic
Select item 988881	NM_000552.5(VWF):c.6424C>T (p.Leu2142Phe)	VWF (L2142F)	Single nucleotide variant (missense variant)	Abnormal bleeding +2 more	GUncertain significance
Select item 988880	NM_001098671.2(RASGRP2):c.281C>T (p.Pro94Leu)	RASGRP2 (P94L)	Single nucleotide variant (missense variant +1 more)	Abnormal bleeding +1 more	GUncertain significance
Select item 988879	NM_000361.3(THBD):c.407T>G (p.Leu136Trp)	THBD (L136W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 988878	NM_000892.5(KLKB1):c.772C>T (p.Leu258Phe)	KLKB1 (L220F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 988877	NM_030773.4(TUBB1):c.1080dup (p.Leu361fs)	TUBB1 (L361fs)	Duplication (frameshift variant)	Abnormal bleeding +1 more	GLikely pathogenic
Select item 988876	NM_000093.5(COL5A1):c.1715C>A (p.Pro572His)	COL5A1 (P572H)	Single nucleotide variant (missense variant)	Abnormal bleeding +1 more	GUncertain significance
Select item 988875	NM_000821.7(GGCX):c.1217G>A (p.Arg406His)	GGCX (R349H +1 more)	Single nucleotide variant (missense variant)	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency +2 more	GUncertain significance
Select item 988874	NM_018947.6(CYCS):c.155C>T (p.Ala52Val)	CYCS (A52V)	Single nucleotide variant (missense variant)	Abnormal bleeding +1 more	GLikely pathogenic
Select item 988873	NM_024747.6(HPS6):c.256_264dup (p.Trp86_Ala88dup)	HPS6, LOC130004578	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 988872	NM_138272.3(MPIG6B):c.621G>T (p.Pro207=)	MPIG6B (E170* +2 more)	Single nucleotide variant (nonsense +2 more)	Thrombocytopenia +1 more	GUncertain significance
Select item 988871	NM_000173.7(GP1BA):c.1277_1313del (p.Pro426fs)	GP1BA (P426fs)	Deletion (frameshift variant)	Abnormal bleeding +1 more	GUncertain significance
Select item 988870	NM_005577.4(LPA):c.5081C>G (p.Ser1694Ter)	LPA (S1694*)	Single nucleotide variant (nonsense)	Abnormal bleeding +1 more	GUncertain significance
Select item 988869	NM_030773.4(TUBB1):c.4C>T (p.Arg2Cys)	TUBB1 (R2C)	Single nucleotide variant (missense variant)	Abnormal bleeding +1 more	GUncertain significance
Select item 988868	NM_005373.3(MPL):c.305G>A (p.Arg102His)	MPL (R102H)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely pathogenic
Select item 988867	NM_001754.5(RUNX1):c.1270T>G (p.Ser424Ala)	RUNX1 (S397A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 988866	NM_001261826.3(AP3D1):c.1363G>A (p.Ala455Thr)	AP3D1 (A455T)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 988865	NM_000173.7(GP1BA):c.1274_1275del (p.Glu425fs)	GP1BA (E425fs)	Deletion (frameshift variant)	Bernard-Soulier syndrome, type A2, autosomal dominant	GPathogenic
Select item 988864	NM_030773.4(TUBB1):c.721C>T (p.Arg241Trp)	TUBB1 (R241W)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 988863	NM_000930.5(PLAT):c.928C>T (p.Arg310Cys)	LOC130000295, PLAT (R221C +2 more)	Single nucleotide variant (missense variant)	Abnormal bleeding +1 more	GUncertain significance
Select item 988862	NM_003290.3(TPM4):c.440C>T (p.Ala147Val)	TPM4 (A144V +3 more)	Single nucleotide variant (missense variant)	Abnormal bleeding +1 more	GUncertain significance
Select item 988861	NM_030773.4(TUBB1):c.13G>A (p.Val5Ile)	TUBB1 (V5I)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 988860	NM_000821.7(GGCX):c.2012G>A (p.Arg671His)	GGCX (R614H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 988859	NM_005359.6(SMAD4):c.904+3A>G	SMAD4	Single nucleotide variant (intron variant)	Abnormal bleeding +1 more	GUncertain significance
Select item 988858	NM_005359.6(SMAD4):c.904+1_904+2insGCCTGTTCACAA	SMAD4	Insertion (splice donor variant)	Abnormal bleeding +1 more	GPathogenic
Select item 988857	NM_001754.5(RUNX1):c.403G>A (p.Gly135Ser)	RUNX1, RUNX1-AS1 (G108S +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 988856	NM_022788.5(P2RY12):c.772C>A (p.Pro258Thr)	MED12L, P2RY12 (P258T)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 8 +3 more	GPathogenic/Likely pathogenic
Select item 988855	NM_022788.5(P2RY12):c.365G>A (p.Arg122His)	MED12L, P2RY12 (R122H)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign
Select item 988854	NM_005720.4(ARPC1B):c.308G>A (p.Arg103His)	ARPC1B (R103H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 988853	NM_000129.4(F13A1):c.1149G>T (p.Arg383Ser)	F13A1 (R383S)	Single nucleotide variant (missense variant)	Abnormal bleeding +1 more	GUncertain significance
Select item 988852	NM_139279.6(MCFD2):c.364G>A (p.Asp122Asn)	MCFD2 (D103N +2 more)	Single nucleotide variant (missense variant)	Abnormal bleeding +1 more	GLikely pathogenic
Select item 988851	NM_000393.5(COL5A2):c.2786C>T (p.Ala929Val)	COL5A2 (A929V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GUncertain significance
Select item 988850	NM_000361.3(THBD):c.752G>A (p.Gly251Asp)	THBD (G251D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 988849	NM_000093.5(COL5A1):c.5411C>A (p.Thr1804Asn)	COL5A1, LOC101448202 (T1804N)	Single nucleotide variant (missense variant)	Abnormal bleeding +1 more	GUncertain significance
Select item 988848	NM_001754.5(RUNX1):c.1265A>C (p.Glu422Ala)	RUNX1 (E395A +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 +2 more	GUncertain significance
Select item 988847	NM_001754.5(RUNX1):c.1256T>G (p.Val419Gly)	RUNX1 (V392G +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 988846	NM_001987.5(ETV6):c.313C>T (p.Arg105Ter)	ETV6, LOC126861451 (R105*)	Single nucleotide variant (nonsense)	ETV6-related disorder	GLikely pathogenic
Select item 988845	NM_001098671.2(RASGRP2):c.1159C>T (p.Arg387Cys)	RASGRP2 (R242C +1 more)	Single nucleotide variant (missense variant)	Abnormal bleeding +1 more	GUncertain significance
Select item 988844	NM_001129820.2(SLFN14):c.916G>C (p.Asp306His)	SLFN14 (D306H)	Single nucleotide variant (missense variant)	Abnormal bleeding +1 more	GUncertain significance
Select item 988843	NM_004991.4(MECOM):c.951G>T (p.Lys317Asn)	MECOM (K129N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 988842	NM_000093.5(COL5A1):c.2146G>A (p.Glu716Lys)	COL5A1 (E716K)	Single nucleotide variant (missense variant)	Abnormal bleeding +1 more	GUncertain significance
Select item 988841	NM_003891.3(PROZ):c.647C>T (p.Thr216Ile)	PROZ, PCID2 (T216I +1 more)	Single nucleotide variant (missense variant)	Abnormal bleeding +1 more	GUncertain significance
Select item 988840	NM_015175.3(NBEAL2):c.5866G>A (p.Val1956Met)	NBEAL2 (V1922M +1 more)	Single nucleotide variant (missense variant)	Abnormal bleeding +1 more	GUncertain significance
Select item 988839	NM_000132.4(F8):c.5441A>T (p.Asp1814Val)	F8 (D1814V)	Single nucleotide variant (missense variant)	Abnormal bleeding +1 more	GLikely pathogenic
Select item 988838	NM_004991.4(MECOM):c.580T>G (p.Tyr194Asp)	MECOM (Y194D +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 988837	NM_001754.5(RUNX1):c.351+1G>T	RUNX1	Single nucleotide variant (splice donor variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 988836	NM_000212.3(ITGB3):c.349C>T (p.Arg117Trp)	ITGB3 (R117W)	Single nucleotide variant (missense variant)	Abnormal bleeding +1 more	GLikely pathogenic
Select item 988835	NM_001754.5(RUNX1):c.317G>A (p.Trp106Ter)	RUNX1 (W106* +1 more)	Single nucleotide variant (nonsense)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 988834	NM_000020.3(ACVRL1):c.653G>A (p.Arg218Gln)	ACVRL1 (R218Q)	Single nucleotide variant (missense variant)	Abnormal bleeding +1 more	GLikely pathogenic
Select item 988833	NM_001385012.1(NBEA):c.-161C>T	LOC130009564, NBEA	Single nucleotide variant (5 prime UTR variant)	Abnormal bleeding +1 more	GUncertain significance
Select item 988832	NM_000504.4(F10):c.1325G>A (p.Gly442Asp)	F10 (G398D +1 more)	Single nucleotide variant (missense variant +1 more)	Factor X deficiency	GUncertain significance
Select item 988831	NM_019616.4(F7):c.791C>T (p.Ala264Val)	F7 (A202V +2 more)	Single nucleotide variant (missense variant +1 more)	Abnormal bleeding +1 more	GUncertain significance
Select item 988830	NM_001261826.3(AP3D1):c.1246G>A (p.Glu416Lys)	AP3D1 (E416K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 988829	NM_032383.5(HPS3):c.479G>A (p.Ser160Asn)	HPS3 (S160N)	Single nucleotide variant (missense variant +1 more)	Abnormal bleeding +1 more	GUncertain significance
Select item 988828	NM_016180.5(SLC45A2):c.1471G>A (p.Gly491Arg)	SLC45A2 (G491R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 988827	NM_001987.5(ETV6):c.1288C>T (p.Arg430Ter)	ETV6 (R430*)	Single nucleotide variant (nonsense)	ETV6-related disorder	GLikely pathogenic
Select item 988826	NM_018668.5(VPS33B):c.434T>C (p.Leu145Ser)	VPS33B (L118S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 988825	NM_138272.3(MPIG6B):c.132G>C (p.Trp44Cys)	MPIG6B (W44C)	Single nucleotide variant (missense variant)	Thrombocytopenia +1 more	GUncertain significance
Select item 988824	NM_015175.3(NBEAL2):c.6801+1G>C	NBEAL2	Single nucleotide variant (splice donor variant)	Thrombocytopenia +1 more	GPathogenic
Select item 988823	NM_005523.6(HOXA11):c.248A>G (p.Tyr83Cys)	LOC107126281, HOXA11 (Y83C)	Single nucleotide variant (missense variant)	Abnormal bleeding +1 more	GUncertain significance
Select item 988822	NM_000419.5(ITGA2B):c.2176A>T (p.Lys726Ter)	ITGA2B (K726*)	Single nucleotide variant (nonsense)	Abnormal bleeding +1 more	GPathogenic
Select item 988821	NM_001377304.1(GFI1B):c.814+1G>A	GFI1B	Single nucleotide variant (splice donor variant)	Thrombocytopenia +1 more	GPathogenic
Select item 988820	NM_005373.3(MPL):c.712G>T (p.Gly238Cys)	MPL (G238C)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GConflicting classifications of pathogenicity
Select item 988819	NM_000504.4(F10):c.1222G>A (p.Asp408Asn)	F10 (D364N +1 more)	Single nucleotide variant (missense variant +1 more)	Abnormal bleeding +1 more	GUncertain significance
Select item 988818	NM_139027.6(ADAMTS13):c.1315G>T (p.Glu439Ter)	ADAMTS13 (E408* +1 more)	Single nucleotide variant (nonsense)	Abnormal bleeding +1 more	GPathogenic
Select item 988817	NM_000081.4(LYST):c.4288C>T (p.Arg1430Ter)	LYST (R1430*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	GPathogenic
Select item 988816	NM_139027.6(ADAMTS13):c.3400+175T>G	ADAMTS13	Single nucleotide variant (intron variant)	Abnormal bleeding +1 more	GUncertain significance
Select item 988815	NM_001129820.2(SLFN14):c.3_4insCTAGTCGACTATA (p.Glu2fs)	SLFN14 (E2fs)	Insertion (frameshift variant +1 more)	Abnormal bleeding +1 more	GPathogenic
Select item 988814	NM_001129820.2(SLFN14):c.859A>G (p.Lys287Glu)	SLFN14 (K287E)	Single nucleotide variant (missense variant)	Abnormal bleeding +1 more	GUncertain significance
Select item 988813	NM_001129820.2(SLFN14):c.1481A>G (p.Gln494Arg)	SLFN14 (Q494R)	Single nucleotide variant (missense variant)	Abnormal bleeding +1 more	GUncertain significance
Select item 988812	NM_001129820.2(SLFN14):c.2686T>C (p.Ser896Pro)	SLFN14 (S896P)	Single nucleotide variant (missense variant)	Abnormal bleeding +1 more	GUncertain significance
Select item 988811	NM_001754.5(RUNX1):c.586A>G (p.Thr196Ala)	RUNX1, RUNX1-AS1 (T169A +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely pathogenic FDA Recognized database
Select item 988810	NM_000157.4(GBA1):c.26_27del (p.Glu9fs)	GBA1 (E9fs)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 988809	NM_001754.5(RUNX1):c.98-1G>A	RUNX1 (D6N)	Single nucleotide variant (missense variant +1 more)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 988808	NM_001754.5(RUNX1):c.508+1G>T	RUNX1, RUNX1-AS1	Single nucleotide variant (splice donor variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely pathogenic FDA Recognized database
Select item 970259	NM_001754.5(RUNX1):c.1270T>C (p.Ser424Pro)	RUNX1 (S424P +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 916452	NM_016363.5(GP6):c.172C>T (p.Arg58Cys)	GP6 (R58C)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 903396	NM_015175.3(NBEAL2):c.3184G>A (p.Val1062Ile)	NBEAL2 (V1028I +1 more)	Single nucleotide variant (missense variant)	Gray platelet syndrome +1 more	GUncertain significance
Select item 899839	NM_015175.3(NBEAL2):c.5021G>A (p.Arg1674His)	NBEAL2 (R1640H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 893811	NM_006949.4(STXBP2):c.911C>T (p.Thr304Met)	STXBP2 (T304M +2 more)	Single nucleotide variant (missense variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GUncertain significance
Select item 880650	NM_000504.4(F10):c.1406G>A (p.Arg469Lys)	F10 (R469K +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary factor X deficiency disease	GUncertain significance
Select item 871094	NM_030773.4(TUBB1):c.68T>C (p.Met23Thr)	TUBB1 (M23T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 845614	NM_006949.4(STXBP2):c.499C>T (p.Arg167Trp)	STXBP2 (R167W +2 more)	Single nucleotide variant (missense variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5 +1 more	GUncertain significance
Select item 810282	NM_000930.5(PLAT):c.1481G>C (p.Gly494Ala)	PLAT (G494A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 809590	NM_000412.5(HRG):c.1379G>A (p.Arg460Gln)	HRG (R460Q)	Single nucleotide variant (missense variant)	Abnormal bleeding +1 more	GLikely benign
Select item 808733	NM_022436.3(ABCG5):c.692T>C (p.Ile231Thr)	ABCG5, DYNC2LI1 (I231T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 808198	NM_000173.7(GP1BA):c.1761A>C (p.Gln587His)	GP1BA, LOC130060044 (Q587H)	Single nucleotide variant (missense variant)	Nonarteritic anterior ischemic optic neuropathy, susceptibility to +4 more	GUncertain significance
Select item 783428	NM_021871.4(FGA):c.1366A>G (p.Thr456Ala)	FGA (T456A)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 777851	NM_014915.3(ANKRD26):c.3007G>A (p.Glu1003Lys)	ANKRD26 (E1002K +1 more)	Single nucleotide variant (missense variant)	Thrombocytopenia 2 +2 more	GConflicting classifications of pathogenicity
Select item 713561	NM_000130.5(F5):c.5245C>G (p.Leu1749Val)	F5 (L1749V)	Single nucleotide variant (missense variant)	Budd-Chiari syndrome +5 more	GConflicting classifications of pathogenicity
Select item 695335	NM_000212.3(ITGB3):c.197T>G (p.Leu66Arg)	ITGB3 (L66R)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GBenign FDA Recognized database
Select item 632834	NM_000157.4(GBA1):c.653G>A (p.Trp218Ter)	GBA1, LOC106627981 (W218* +2 more)	Single nucleotide variant (nonsense)	Parkinson disease, late-onset +2 more	GPathogenic
Select item 627512	NC_000022.11:g.19721912_19724790del	GP1BB, SEPT5-GP1BB +1 more	Deletion	Macrothrombocytopenia +1 more	GConflicting classifications of pathogenicity
Select item 627506	Single allele	ARVCF, COMT +24 more	Deletion	Abnormal bleeding	GLikely pathogenic
Select item 627495	NM_000504.4(F10):c.748-50_865+35del	F10	Deletion (splice acceptor variant +1 more)	Abnormal bleeding	GLikely pathogenic
Select item 627494	NM_000602.4(SERPINE1):c.0_-2+51del	SERPINE1	Deletion	Abnormal bleeding	GLikely pathogenic
Select item 627381	NM_000361.3(THBD):c.778C>G (p.Pro260Ala)	THBD (P260A)	Single nucleotide variant (missense variant)	Abnormal bleeding	GUncertain significance
Select item 627348	NM_000460.4(THPO):c.610dup (p.Glu204fs)	THPO (E200fs +4 more)	Duplication (frameshift variant)	Macrothrombocytopenia	GUncertain significance

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