ClinVar for Gene (Select 2811) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067427	NM_000173.7(GP1BA):c.814G>A (p.Val272Ile)	GP1BA (V272I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3063826	NM_000173.7(GP1BA):c.1774C>T (p.Arg592Trp)	GP1BA, LOC130060044 (R592W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063642	NM_000173.7(GP1BA):c.1253C>G (p.Ala418Gly)	GP1BA (A418G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3063485	GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	ABR, ALOX15 +116 more	Copy number loss	not specified	GPathogenic
Select item 3058327	NM_000173.7(GP1BA):c.1233A>C (p.Pro411=)	GP1BA	Single nucleotide variant (synonymous variant)	GP1BA-related condition	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 3055053	NM_000173.7(GP1BA):c.138G>A (p.Pro46=)	GP1BA	Single nucleotide variant (synonymous variant)	GP1BA-related condition	GLikely benign
Select item 3053981	NM_000173.7(GP1BA):c.1803G>A (p.Ser601=)	GP1BA, LOC130060044	Single nucleotide variant (synonymous variant)	GP1BA-related condition	GLikely benign
Select item 3052040	NM_000173.7(GP1BA):c.1725A>T (p.Thr575=)	GP1BA, LOC130060044	Single nucleotide variant (synonymous variant)	GP1BA-related condition	GLikely benign
Select item 3050960	NM_000173.7(GP1BA):c.1233A>G (p.Pro411=)	GP1BA	Single nucleotide variant (synonymous variant)	GP1BA-related condition	GLikely benign
Select item 3047357	NM_000173.7(GP1BA):c.930T>C (p.Thr310=)	GP1BA	Single nucleotide variant (synonymous variant)	GP1BA-related condition	GLikely benign
Select item 3046830	NM_000173.7(GP1BA):c.1262C>T (p.Pro421Leu)	GP1BA (P421L)	Single nucleotide variant (missense variant)	GP1BA-related condition	GLikely benign
Select item 3046722	NM_000173.7(GP1BA):c.1116C>T (p.Phe372=)	GP1BA	Single nucleotide variant (synonymous variant)	GP1BA-related condition	GLikely benign
Select item 3045611	NM_000173.7(GP1BA):c.1365C>T (p.Ile455=)	GP1BA	Single nucleotide variant (synonymous variant)	GP1BA-related condition	GLikely benign
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 3036204	NM_000173.7(GP1BA):c.420C>A (p.Gly140=)	GP1BA	Single nucleotide variant (synonymous variant)	GP1BA-related condition	GLikely benign
Select item 3032851	NM_000173.7(GP1BA):c.1215_1241del (p.Pro406_Thr414del)	GP1BA	Deletion (inframe deletion)	GP1BA-related condition	GUncertain significance
Select item 3032370	NM_000173.7(GP1BA):c.1263G>A (p.Pro421=)	GP1BA	Single nucleotide variant (synonymous variant)	GP1BA-related condition	GLikely benign
Select item 3032059	NM_000173.7(GP1BA):c.1005C>T (p.Asp335=)	GP1BA	Single nucleotide variant (synonymous variant)	GP1BA-related condition	GLikely benign
Select item 3031793	NM_000173.7(GP1BA):c.1185C>T (p.Pro395=)	GP1BA	Single nucleotide variant (synonymous variant)	GP1BA-related condition	GLikely benign
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 3030475	NM_000173.7(GP1BA):c.1290C>T (p.Pro430=)	GP1BA	Single nucleotide variant (synonymous variant)	GP1BA-related condition	GLikely benign
Select item 3030172	NM_000173.7(GP1BA):c.1272G>A (p.Pro424=)	GP1BA	Single nucleotide variant (synonymous variant)	GP1BA-related condition	GLikely benign
Select item 2887468	NM_000173.7(GP1BA):c.1602T>C (p.Tyr534=)	GP1BA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2736404	NM_000173.7(GP1BA):c.581TCC[1] (p.Leu195del)	GP1BA (L195del)	Microsatellite (inframe_deletion)	not provided	GLikely pathogenic
Select item 2736403	NM_000173.7(GP1BA):c.165_168del (p.Ser55fs)	GP1BA (S55fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2691663	NM_000173.7(GP1BA):c.1432T>G (p.Phe478Val)	GP1BA (F478V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2691615	NM_000173.7(GP1BA):c.1202C>T (p.Thr401Ile)	GP1BA (T401I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2682338	NM_000173.7(GP1BA):c.1406C>T (p.Thr469Ile)	GP1BA (T469I)	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 2647278	NM_000173.7(GP1BA):c.571G>A (p.Asp191Asn)	GP1BA (D191N)	Single nucleotide variant (missense variant)	not provided	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 2630317	NM_000173.7(GP1BA):c.176T>C (p.Leu59Pro)	GP1BA (L59P)	Single nucleotide variant (missense variant)	GP1BA-related condition	GUncertain significance
Select item 2629608	NM_000173.7(GP1BA):c.1937G>A (p.Arg646Lys)	GP1BA, LOC130060044 (R646K)	Single nucleotide variant (missense variant)	GP1BA-related condition	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 2629030	NM_000173.7(GP1BA):c.634C>T (p.Leu212Phe)	GP1BA (L212F)	Single nucleotide variant (missense variant)	GP1BA-related condition	GUncertain significance
Select item 2628938	NM_000173.7(GP1BA):c.1853G>A (p.Arg618His)	GP1BA, LOC130060044 (R618H)	Single nucleotide variant (missense variant)	GP1BA-related condition	GUncertain significance
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 2628508	NM_000173.7(GP1BA):c.588A>G (p.Gln196=)	GP1BA	Single nucleotide variant (synonymous variant)	GP1BA-related condition	GUncertain significance
Select item 2606148	NM_000173.7(GP1BA):c.1052A>T (p.Glu351Val)	GP1BA (E351V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599285	NM_000173.7(GP1BA):c.1693T>G (p.Ser565Ala)	GP1BA (S565A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599284	NM_000173.7(GP1BA):c.1435T>G (p.Leu479Val)	GP1BA (L479V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2578408	NM_000173.7(GP1BA):c.1292_1341del (p.Ala431fs)	GP1BA (A431fs)	Deletion (frameshift variant)	Bernard-Soulier syndrome, type A1	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 2572131	NM_000173.7(GP1BA):c.1408del (p.Ser470fs)	GP1BA (S470fs)	Deletion (frameshift variant)	Bernard Soulier syndrome	GPathogenic
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 2557863	NM_000173.7(GP1BA):c.973C>A (p.Leu325Ile)	GP1BA (L325I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2520628	NM_000173.7(GP1BA):c.1754G>C (p.Gly585Ala)	GP1BA, LOC130060044 (G585A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2501892	NM_000173.7(GP1BA):c.1541G>A (p.Ser514Asn)	GP1BA (S514N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2480367	NM_000173.7(GP1BA):c.1133C>T (p.Ser378Phe)	GP1BA (S378F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479668	NM_000173.7(GP1BA):c.1855G>T (p.Val619Leu)	GP1BA, LOC130060044 (V619L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2472303	NM_000173.7(GP1BA):c.1708G>A (p.Ala570Thr)	GP1BA (A570T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465440	NM_000173.7(GP1BA):c.961A>G (p.Thr321Ala)	GP1BA (T321A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2440587	NM_000173.7(GP1BA):c.1480dup (p.Thr494fs)	GP1BA (T494fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2432236	NM_000173.7(GP1BA):c.1795C>T (p.Arg599Ter)	GP1BA, LOC130060044 (R599*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2409095	NM_000173.7(GP1BA):c.1912G>A (p.Asp638Asn)	GP1BA, LOC130060044 (D638N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406098	NM_000173.7(GP1BA):c.1683G>T (p.Gln561His)	GP1BA (Q561H)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2367013	NM_000173.7(GP1BA):c.917G>A (p.Arg306His)	GP1BA (R306H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367012	NM_000173.7(GP1BA):c.1178C>T (p.Pro393Leu)	GP1BA (P393L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359806	NM_000173.7(GP1BA):c.1186G>A (p.Ala396Thr)	GP1BA (A396T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2329468	NM_000173.7(GP1BA):c.1726C>G (p.Gln576Glu)	GP1BA, LOC130060044 (Q576E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317547	NM_000173.7(GP1BA):c.1243T>A (p.Ser415Thr)	GP1BA (S415T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2294796	NM_000173.7(GP1BA):c.1214C>G (p.Thr405Ser)	GP1BA (T405S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2264968	NM_000173.7(GP1BA):c.1834T>C (p.Trp612Arg)	GP1BA, LOC130060044 (W612R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2213038	NM_000173.7(GP1BA):c.1271C>T (p.Pro424Leu)	GP1BA (P424L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2150515	NM_000173.7(GP1BA):c.1455A>G (p.Val485=)	GP1BA	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2137887	NM_000173.7(GP1BA):c.1454dup (p.Ser486fs)	GP1BA (S486fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1919980	NM_000173.7(GP1BA):c.582C>T (p.Leu194=)	GP1BA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1809320	GRCh37/hg19 17p13.2(chr17:4658216-5266343)x3	C17orf107, CAMTA2 +22 more	Copy number gain	not provided	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 1804320	NM_000173.7(GP1BA):c.1904G>A (p.Arg635His)	GP1BA, LOC130060044 (R635H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1803121	NM_000173.7(GP1BA):c.1775G>A (p.Arg592Gln)	GP1BA, LOC130060044 (R592Q)	Single nucleotide variant (missense variant)	Pseudo von Willebrand disease +1 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 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 1702694	NM_000173.7(GP1BA):c.662A>G (p.Asn221Ser)	GP1BA (N221S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1700496	NM_000173.7(GP1BA):c.1349C>T (p.Pro450Leu)	GP1BA (P450L)	Single nucleotide variant (missense variant)	not provided	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 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 1691252	NM_000173.7(GP1BA):c.674G>C (p.Cys225Ser)	GP1BA (C225S)	Single nucleotide variant (missense variant)	Bernard Soulier syndrome	GPathogenic
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 1684370	NM_000173.7(GP1BA):c.1283C>G (p.Ser428Ter)	GP1BA (S428*)	Single nucleotide variant (nonsense)	Bernard Soulier syndrome	GLikely pathogenic
Select item 1684369	NM_000173.7(GP1BA):c.1436del (p.Phe478_Leu479insTer)	GP1BA	Deletion (nonsense)	Bernard Soulier syndrome	GLikely pathogenic
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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