"ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 1695379	NM_000173.7(GP1BA):c.97T>C (p.Cys33Arg)	GP1BA (C33R)	Single nucleotide variant (missense variant)	Bernard Soulier syndrome	GUncertain significance
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 1679418	NM_000173.7(GP1BA):c.137C>T (p.Pro46Leu)	GP1BA (P46L)	Single nucleotide variant (missense variant)	Bernard-Soulier syndrome, type A2, autosomal dominant	GLikely pathogenic
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 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 1285165	NM_000173.7(GP1BA):c.206C>T (p.Pro69Leu)	GP1BA (P69L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 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 626958	NM_000173.7(GP1BA):c.344T>C (p.Leu115Pro)	GP1BA (L115P)	Single nucleotide variant (missense variant)	Bernard-Soulier syndrome, type A2, autosomal dominant +1 more	GPathogenic/Likely pathogenic
Select item 1684362	NM_000173.7(GP1BA):c.380G>A (p.Arg127Gln)	GP1BA (R127Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1684365	NM_000173.7(GP1BA):c.434T>C (p.Leu145Pro)	GP1BA (L145P)	Single nucleotide variant (missense variant)	Bernard Soulier syndrome +2 more	GPathogenic
Select item 627076	NM_000173.7(GP1BA):c.449A>G (p.Asn150Ser)	GP1BA (N150S)	Single nucleotide variant (missense variant)	Thrombocytopenia +2 more	GLikely pathogenic
Select item 1677264	NM_000173.7(GP1BA):c.463C>G (p.Leu155Val)	GP1BA (L155V)	Single nucleotide variant (missense variant)	Bernard Soulier syndrome +1 more	GUncertain significance
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 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 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 435347	NM_000173.7(GP1BA):c.673T>A (p.Cys225Ser)	GP1BA (C225S)	Single nucleotide variant (missense variant)	Bernard-Soulier syndrome, type A1 +3 more	GPathogenic/Likely pathogenic
Select item 1691252	NM_000173.7(GP1BA):c.674G>C (p.Cys225Ser)	GP1BA (C225S)	Single nucleotide variant (missense variant)	Bernard Soulier syndrome	GPathogenic
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 1684364	NM_000173.7(GP1BA):c.737G>T (p.Trp246Leu)	GP1BA (W246L)	Single nucleotide variant (missense variant)	Pseudo von Willebrand disease	GPathogenic
Select item 1677263	NM_000173.7(GP1BA):c.746G>A (p.Gly249Asp)	GP1BA (G249D)	Single nucleotide variant (missense variant)	Pseudo von Willebrand disease	GPathogenic
Select item 4153	NM_000173.7(GP1BA):c.746G>T (p.Gly249Val)	GP1BA (G249V)	Single nucleotide variant (missense variant)	Pseudo von Willebrand disease	GPathogenic/Likely pathogenic
Select item 4155	NM_000173.7(GP1BA):c.763A>G (p.Met255Val)	GP1BA (M255V)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1677262	NM_000173.7(GP1BA):c.793G>T (p.Asp265Tyr)	GP1BA (D265Y)	Single nucleotide variant (missense variant)	Pseudo von Willebrand disease	GPathogenic
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 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 1684370	NM_000173.7(GP1BA):c.1283C>G (p.Ser428Ter)	GP1BA (S428*)	Single nucleotide variant (nonsense)	Bernard Soulier syndrome	GLikely pathogenic
Select item 1677260	NM_000173.7(GP1BA):c.1326_1334del (p.Glu442_Pro445delinsAsp)	GP1BA	Deletion (inframe_indel)	Pseudo von Willebrand disease	GPathogenic
Select item 2572131	NM_000173.7(GP1BA):c.1408del (p.Ser470fs)	GP1BA (S470fs)	Deletion (frameshift variant)	Bernard Soulier syndrome	GPathogenic
Select item 1684369	NM_000173.7(GP1BA):c.1436del (p.Phe478_Leu479insTer)	GP1BA	Deletion (nonsense)	Bernard Soulier syndrome	GLikely pathogenic
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 2572137	NM_000173.7(GP1BA):c.1655T>A (p.Leu552Gln)	GP1BA (L552Q)	Single nucleotide variant (missense variant)	GP1BA-related condition +1 more	GUncertain significance
Select item 1338214	NM_000173.7(GP1BA):c.1845_1849del (p.Asn616fs)	LOC130060044, GP1BA (N616fs)	Deletion (frameshift variant)	GP1BA-related condition +6 more	GUncertain significance
Select item 1703858	NM_000173.7(GP1BA):c.1846_1852del (p.Asn616fs)	GP1BA, LOC130060044 (N616fs)	Deletion (frameshift variant)	Bernard Soulier syndrome	GPathogenic
Select item 1684366	NM_000173.7(GP1BA):c.1951dup (p.Ser651fs)	GP1BA (S651fs)	Duplication (frameshift variant)	Bernard Soulier syndrome	GLikely pathogenic

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Items: 37