GP1BA[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	LOC130060143, LOC130060144 +963 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	MIR22HG, MIR3183 +464 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR6883, MIR744 +923 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	ABR, ABR-AS1 +652 more	Copy number loss	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	LOC130059866, LOC130059867 +499 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC130060025, LOC130060026 +458 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	YWHAE, ZBTB4 +605 more	Copy number gain	See cases	GPathogenic
Select item 144239	GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1	UBE2G1, USP6 +304 more	Copy number loss	See cases	GPathogenic
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	LOC130060037, LOC130060038 +291 more	Copy number loss	See cases	GPathogenic
Select item 146235	GRCh38/hg38 17p13.2(chr17:4044302-5943772)x1	LOC130060059, LOC130060060 +167 more	Copy number loss	See cases	GLikely pathogenic
Select item 150854	GRCh38/hg38 17p13.2(chr17:4092608-5354473)x3	ALOX15, ANKFY1 +142 more	Copy number gain	See cases	GLikely benign
Select item 1679759	Single allele	C17orf107, C17orf114 +68 more	Duplication	7p22.1 microduplication syndrome	GUncertain significance
Select item 642050	NC_000017.10:g.(?_4802011)_(4850135_?)dup	LOC130060045, LOC130060046 +17 more	Duplication	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 153248	GRCh38/hg38 17p13.2(chr17:4915519-5197126)x1	CAMTA2, CAMTA2-AS1 +48 more	Copy number loss	See cases	GLikely pathogenic
Select item 1224607	NM_000173.7(GP1BA):c.-6-42A>T	GP1BA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 255460	NM_000173.7(GP1BA):c.-5T>C	GP1BA	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
Select item 2206245	NM_000173.7(GP1BA):c.32C>T (p.Pro11Leu)	GP1BA (P11L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2485926	NM_000173.7(GP1BA):c.64G>T (p.Val22Phe)	GP1BA (V22F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 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 627167	NM_000173.7(GP1BA):c.98G>C (p.Cys33Ser)	GP1BA (C33S)	Single nucleotide variant (missense variant)	Macrothrombocytopenia	GLikely pathogenic
Select item 523620	NM_000173.7(GP1BA):c.104del (p.Lys35fs)	GP1BA (K35fs)	Deletion (frameshift variant)	Bernard Soulier syndrome +1 more	GPathogenic
Select item 255462	NM_000173.7(GP1BA):c.106A>G (p.Arg36Gly)	GP1BA (R36G)	Single nucleotide variant (missense variant)	Bernard-Soulier syndrome, type A2, autosomal dominant +5 more	GBenign/Likely benign
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 3055053	NM_000173.7(GP1BA):c.138G>A (p.Pro46=)	GP1BA	Single nucleotide variant (synonymous variant)	GP1BA-related condition	GLikely benign
Select item 627001	NM_000173.7(GP1BA):c.148_149del (p.Thr50fs)	GP1BA (T50fs)	Deletion (frameshift variant)	Macrothrombocytopenia	GPathogenic
Select item 2736403	NM_000173.7(GP1BA):c.165_168del (p.Ser55fs)	GP1BA (S55fs)	Microsatellite (frameshift variant)	not provided	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 627016	NM_000173.7(GP1BA):c.171C>A (p.Asn57Lys)	GP1BA (N57K)	Single nucleotide variant (missense variant)	GP1BA-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2533544	NM_000173.7(GP1BA):c.172C>T (p.Leu58Phe)	GP1BA (L58F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2630317	NM_000173.7(GP1BA):c.176T>C (p.Leu59Pro)	GP1BA (L59P)	Single nucleotide variant (missense variant)	GP1BA-related condition	GUncertain significance
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 2629339	NM_000173.7(GP1BA):c.194C>T (p.Ala65Val)	GP1BA (A65V)	Single nucleotide variant (missense variant)	GP1BA-related condition	GUncertain significance
Select item 627031	NM_000173.7(GP1BA):c.200T>G (p.Leu67Arg)	GP1BA (L67R)	Single nucleotide variant (missense variant)	Macrothrombocytopenia	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 1338245	NM_000173.7(GP1BA):c.215G>A (p.Arg72His)	GP1BA (R72H)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 4154	NM_000173.7(GP1BA):c.217C>T (p.Leu73Phe)	GP1BA (L73F)	Single nucleotide variant (missense variant)	Macrothrombocytopenia	GLikely pathogenic
Select item 2271956	NM_000173.7(GP1BA):c.230A>C (p.Asn77Thr)	GP1BA (N77T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1677212	NM_000173.7(GP1BA):c.241T>C (p.Cys81Arg)	GP1BA (C81R)	Single nucleotide variant (missense variant)	Bernard Soulier syndrome	GPathogenic
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 1679216	NM_000173.7(GP1BA):c.251_253del (p.Thr84del)	GP1BA (T84del)	Deletion (inframe_deletion)	Bernard Soulier syndrome	GUncertain significance
Select item 417940	NM_000173.7(GP1BA):c.256C>T (p.Leu86Phe)	GP1BA (L86F)	Single nucleotide variant (missense variant)	GP1BA-related condition +1 more	GBenign/Likely benign
Select item 2628568	NM_000173.7(GP1BA):c.284T>G (p.Leu95Arg)	GP1BA (L95R)	Single nucleotide variant (missense variant)	GP1BA-related condition	GUncertain significance
Select item 1188495	NM_000173.7(GP1BA):c.308A>G (p.Asn103Ser)	GP1BA (N103S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1337178	NM_000173.7(GP1BA):c.316C>G (p.Gln106Glu)	GP1BA (Q106E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672677	NM_000173.7(GP1BA):c.321C>T (p.Ser107=)	GP1BA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1700723	NM_000173.7(GP1BA):c.325C>A (p.Pro109Thr)	GP1BA (P109T)	Single nucleotide variant (missense variant)	not provided	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 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 2647277	NM_000173.7(GP1BA):c.390G>A (p.Ser130=)	GP1BA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 627062	NM_000173.7(GP1BA):c.407T>C (p.Leu136Pro)	GP1BA (L136P)	Single nucleotide variant (missense variant)	Thrombocytopenia	GLikely pathogenic
Select item 2241820	NM_000173.7(GP1BA):c.410G>A (p.Arg137His)	GP1BA (R137H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 3036204	NM_000173.7(GP1BA):c.420C>A (p.Gly140=)	GP1BA	Single nucleotide variant (synonymous variant)	GP1BA-related condition	GLikely benign
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 627316	NM_000173.7(GP1BA):c.470dup (p.Gly158fs)	GP1BA (G158fs)	Duplication (frameshift variant)	Thrombocytopenia	GLikely pathogenic
Select item 226006	NM_000173.7(GP1BA):c.482C>T (p.Thr161Met)	GP1BA (T161M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1679419	NM_000173.7(GP1BA):c.499G>T (p.Glu167Ter)	GP1BA (E167*)	Single nucleotide variant (nonsense)	Bernard Soulier syndrome	GPathogenic
Select item 3030879	NM_000173.7(GP1BA):c.501G>A (p.Glu167=)	GP1BA	Single nucleotide variant (synonymous variant)	GP1BA-related condition	GLikely 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 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 1318798	NM_000173.7(GP1BA):c.551T>A (p.Leu184Gln)	GP1BA (L184Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1337169	NM_000173.7(GP1BA):c.552G>C (p.Leu184=)	GP1BA	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3056117	NM_000173.7(GP1BA):c.570C>T (p.Leu190=)	GP1BA	Single nucleotide variant (synonymous variant)	GP1BA-related condition	GLikely benign
Select item 2647278	NM_000173.7(GP1BA):c.571G>A (p.Asp191Asn)	GP1BA (D191N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2736404	NM_000173.7(GP1BA):c.581TCC[1] (p.Leu195del)	GP1BA (L195del)	Microsatellite (inframe_deletion)	not provided	GLikely pathogenic
Select item 1693270	NM_000173.7(GP1BA):c.580C>T (p.Leu194Phe)	GP1BA (L194F)	Single nucleotide variant (missense variant)	Pseudo von Willebrand disease	GUncertain significance
Select item 1919980	NM_000173.7(GP1BA):c.582C>T (p.Leu194=)	GP1BA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 449564	NM_000173.7(GP1BA):c.586C>T (p.Gln196Ter)	GP1BA (Q196*)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 2628508	NM_000173.7(GP1BA):c.588A>G (p.Gln196=)	GP1BA	Single nucleotide variant (synonymous variant)	GP1BA-related condition	GUncertain significance
Select item 3036754	NM_000173.7(GP1BA):c.597G>A (p.Ser199=)	GP1BA	Single nucleotide variant (synonymous variant)	GP1BA-related condition	GLikely benign
Select item 2304801	NM_000173.7(GP1BA):c.610C>T (p.Pro204Ser)	GP1BA (P204S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2629030	NM_000173.7(GP1BA):c.634C>T (p.Leu212Phe)	GP1BA (L212F)	Single nucleotide variant (missense variant)	GP1BA-related condition	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 1679420	NM_000173.7(GP1BA):c.657C>A (p.His219Gln)	GP1BA (H219Q)	Single nucleotide variant (missense variant)	Bernard Soulier syndrome	GUncertain significance
Select item 627355	NM_000173.7(GP1BA):c.658G>A (p.Gly220Arg)	GP1BA (G220R)	Single nucleotide variant (missense variant)	GP1BA-related condition +1 more	GUncertain significance
Select item 1702694	NM_000173.7(GP1BA):c.662A>G (p.Asn221Ser)	GP1BA (N221S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1031446	NM_000173.7(GP1BA):c.673T>C (p.Cys225Arg)	GP1BA (C225R)	Single nucleotide variant (missense variant)	Bernard Soulier syndrome +1 more	GUncertain significance
Select item 435347	NM_000173.7(GP1BA):c.673T>A (p.Cys225Ser)	GP1BA (C225S)	Single nucleotide variant (missense variant)	Bernard Soulier syndrome +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 2515117	NM_000173.7(GP1BA):c.712G>A (p.Asp238Asn)	GP1BA (D238N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1804654	NM_000173.7(GP1BA):c.715A>G (p.Asn239Asp)	GP1BA (N239D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 993967	NM_000173.7(GP1BA):c.732C>T (p.Tyr244=)	GP1BA	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2474760	NM_000173.7(GP1BA):c.733G>A (p.Val245Ile)	GP1BA (V245I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 627183	NM_000173.7(GP1BA):c.745G>A (p.Gly249Ser)	GP1BA (G249S)	Single nucleotide variant (missense variant)	Thrombocytopenia	GLikely pathogenic
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 255469	NM_000173.7(GP1BA):c.774C>T (p.Asn258=)	GP1BA	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
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 3067427	NM_000173.7(GP1BA):c.814G>A (p.Val272Ile)	GP1BA (V272I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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