ClinVar for MedGen (Select 478706) - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233775	NM_003742.4(ABCB11):c.1568C>G (p.Ala523Gly)	ABCB11 (A523G)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis +1 more	GLikely pathogenic
Select item 2572124	NM_000173.7(GP1BA):c.1233_1349del (p.Ser415_Thr453del)	GP1BA	Deletion (inframe_deletion)	Bernard-Soulier syndrome, type A2, autosomal dominant	GUncertain significance
Select item 2572118	NM_000173.7(GP1BA):c.92T>A (p.Val31Glu)	GP1BA (V31E)	Single nucleotide variant (missense variant)	Bernard-Soulier syndrome, type A2, autosomal dominant +1 more	GUncertain significance
Select item 2572106	NM_000173.7(GP1BA):c.694T>A (p.Phe232Ile)	GP1BA (F232I)	Single nucleotide variant (missense variant)	Bernard-Soulier syndrome, type A2, autosomal dominant	GUncertain significance
Select item 2572104	NM_000173.7(GP1BA):c.638T>C (p.Leu213Pro)	GP1BA (L213P)	Single nucleotide variant (missense variant)	Bernard-Soulier syndrome, type A2, autosomal dominant	GUncertain significance
Select item 1703856	NM_000173.7(GP1BA):c.334G>C (p.Gly112Arg)	GP1BA (G112R)	Single nucleotide variant (missense variant)	Bernard-Soulier syndrome, type A2, autosomal dominant	GUncertain significance
Select item 1703855	NM_000173.7(GP1BA):c.1108A>G (p.Ile370Val)	GP1BA (I370V)	Single nucleotide variant (missense variant)	Bernard-Soulier syndrome, type A2, autosomal dominant	GUncertain significance
Select item 1703854	NM_000173.7(GP1BA):c.520A>G (p.Asn174Asp)	GP1BA (N174D)	Single nucleotide variant (missense variant)	Bernard-Soulier syndrome, type A2, autosomal dominant	GUncertain significance
Select item 1691251	NM_000173.7(GP1BA):c.1480del (p.Thr494fs)	GP1BA (T494fs)	Deletion (frameshift variant)	Bernard-Soulier syndrome, type A2, autosomal dominant	GLikely pathogenic
Select item 1684403	NM_000173.7(GP1BA):c.98G>A (p.Cys33Tyr)	GP1BA (C33Y)	Single nucleotide variant (missense variant)	Bernard-Soulier syndrome, type A2, autosomal dominant	GLikely pathogenic
Select item 1684365	NM_000173.7(GP1BA):c.434T>C (p.Leu145Pro)	GP1BA (L145P)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 1684363	NM_000173.7(GP1BA):c.191T>C (p.Leu64Pro)	GP1BA (L64P)	Single nucleotide variant (missense variant)	Bernard-Soulier syndrome, type A2, autosomal dominant	GUncertain significance
Select item 1679418	NM_000173.7(GP1BA):c.137C>T (p.Pro46Leu)	GP1BA (P46L)	Single nucleotide variant (missense variant)	Bernard-Soulier syndrome, type A2, autosomal dominant +1 more	GConflicting classifications of pathogenicity
Select item 1677265	NM_000173.7(GP1BA):c.247C>T (p.Leu83Phe)	GP1BA (L83F)	Single nucleotide variant (missense variant)	Bernard-Soulier syndrome, type A2, autosomal dominant	GLikely pathogenic
Select item 1677264	NM_000173.7(GP1BA):c.463C>G (p.Leu155Val)	GP1BA (L155V)	Single nucleotide variant (missense variant)	Bernard-Soulier syndrome, type A2, autosomal dominant +1 more	GUncertain significance
Select item 1677261	NM_000173.7(GP1BA):c.58T>G (p.Cys20Gly)	GP1BA (C20G)	Single nucleotide variant (missense variant)	Bernard-Soulier syndrome, type A2, autosomal dominant +1 more	GPathogenic
Select item 1676741	NM_000173.7(GP1BA):c.169A>G (p.Asn57Asp)	GP1BA (N57D)	Single nucleotide variant (missense variant)	Bernard-Soulier syndrome, type A2, autosomal dominant +1 more	GLikely pathogenic
Select item 1338214	NM_000173.7(GP1BA):c.1845_1849del (p.Asn616fs)	GP1BA, LOC130060044 (N616fs)	Deletion (frameshift variant)	Bernard Soulier syndrome +6 more	GUncertain significance
Select item 1285165	NM_000173.7(GP1BA):c.206C>T (p.Pro69Leu)	GP1BA (P69L)	Single nucleotide variant (missense variant)	Bernard-Soulier syndrome, type A2, autosomal dominant +1 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 872581	NM_000173.7(GP1BA):c.1601_1602del (p.Tyr534fs)	GP1BA (Y534fs)	Deletion (frameshift variant)	GP1BA-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 808198	NM_000173.7(GP1BA):c.1761A>C (p.Gln587His)	LOC130060044, GP1BA (Q587H)	Single nucleotide variant (missense variant)	Nonarteritic anterior ischemic optic neuropathy, susceptibility to +4 more	GUncertain significance
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 626958	NM_000173.7(GP1BA):c.344T>C (p.Leu115Pro)	GP1BA (L115P)	Single nucleotide variant (missense variant)	Thrombocytopenia +1 more	GPathogenic/Likely pathogenic
Select item 585094	NM_000173.7(GP1BA):c.92T>C (p.Val31Ala)	GP1BA (V31A)	Single nucleotide variant (missense variant)	Pseudo von Willebrand disease +2 more	Gnot provided
Select item 435347	NM_000173.7(GP1BA):c.673T>A (p.Cys225Ser)	GP1BA (C225S)	Single nucleotide variant (missense variant)	Bernard-Soulier syndrome, type A2, autosomal dominant +3 more	GPathogenic/Likely pathogenic
Select item 435346	NM_000173.7(GP1BA):c.1322_1344del (p.Ser441fs)	GP1BA (S441fs)	Deletion (frameshift variant)	Pseudo von Willebrand disease +5 more	GBenign/Likely benign
Select item 417940	NM_000173.7(GP1BA):c.256C>T (p.Leu86Phe)	GP1BA (L86F)	Single nucleotide variant (missense variant)	GP1BA-related disorder +1 more	GBenign/Likely benign
Select item 255462	NM_000173.7(GP1BA):c.106A>G (p.Arg36Gly)	GP1BA (R36G)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 4156	NM_000173.7(GP1BA):c.515C>T (p.Ala172Val)	GP1BA (A172V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 4154	NM_000173.7(GP1BA):c.217C>T (p.Leu73Phe)	GP1BA (L73F)	Single nucleotide variant (missense variant)	Macrothrombocytopenia	GLikely pathogenic

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Items: 31