Related gene-specific medical variations for Gene (Select 2811) - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3353315	NM_000173.7(GP1BA):c.1802C>T (p.Ser601Leu)	GP1BA, LOC130060044 (S601L)	Single nucleotide variant (missense variant)	GP1BA-related disorder	GUncertain significance
Select item 3339411	NM_000173.7(GP1BA):c.1763T>C (p.Val588Ala)	GP1BA, LOC130060044 (V588A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281996	NM_000173.7(GP1BA):c.1756C>G (p.Arg586Gly)	GP1BA, LOC130060044 (R586G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3101035	NM_000173.7(GP1BA):c.1903C>T (p.Arg635Cys)	GP1BA, LOC130060044 (R635C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3053981	NM_000173.7(GP1BA):c.1803G>A (p.Ser601=)	GP1BA, LOC130060044	Single nucleotide variant (synonymous variant)	GP1BA-related disorder	GLikely benign
Select item 3052040	NM_000173.7(GP1BA):c.1725A>T (p.Thr575=)	GP1BA, LOC130060044	Single nucleotide variant (synonymous variant)	GP1BA-related disorder	GLikely benign
Select item 2629608	NM_000173.7(GP1BA):c.1937G>A (p.Arg646Lys)	GP1BA, LOC130060044 (R646K)	Single nucleotide variant (missense variant)	GP1BA-related disorder	GUncertain significance
Select item 2628938	NM_000173.7(GP1BA):c.1853G>A (p.Arg618His)	GP1BA, LOC130060044 (R618H)	Single nucleotide variant (missense variant)	GP1BA-related disorder	GUncertain significance
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 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 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 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 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 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 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 1679419	NM_000173.7(GP1BA):c.499G>T (p.Glu167Ter)	GP1BA (E167*)	Single nucleotide variant (nonsense)	Bernard Soulier syndrome	GPathogenic
Select item 1679215	NM_000173.7(GP1BA):c.1845_1848del (p.Asn616fs)	GP1BA, LOC130060044 (N616fs)	Deletion (frameshift variant)	Bernard Soulier syndrome	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 1324497	NM_000173.7(GP1BA):c.1263_1264del (p.Thr422fs)	GP1BA (T422fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1176652	NM_000173.7(GP1BA):c.1878G>A (p.Arg626=)	GP1BA, LOC130060044	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1013123	NM_000173.7(GP1BA):c.1792_1795del (p.Leu598fs)	GP1BA, LOC130060044 (L598fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
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 988871	NM_000173.7(GP1BA):c.1277_1313del (p.Pro426fs)	GP1BA (P426fs)	Deletion (frameshift variant)	Abnormal bleeding +1 more	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 255469	NM_000173.7(GP1BA):c.774C>T (p.Asn258=)	GP1BA	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 255461	NM_000173.7(GP1BA):c.1068A>C (p.Pro356=)	GP1BA	Single nucleotide variant (synonymous variant)	not specified	GLikely benign

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Links from Gene

Items: 31