GP9[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1333009	NC_000003.12:g.129058767_129062425del	GP9	Deletion (genic downstream transcript variant +1 more)	Bernard Soulier syndrome	GPathogenic
Select item 1338739	NM_000174.5(GP9):c.-210_*133del (p.Met1fs)	GP9 (M1fs)	Deletion (frameshift variant +3 more)	Bernard Soulier syndrome	GPathogenic
Select item 901794	NM_000174.5(GP9):c.-138-3C>G	GP9	Single nucleotide variant (intron variant)	Bernard Soulier syndrome	GLikely benign
Select item 343215	NM_000174.5(GP9):c.-128C>T	GP9	Single nucleotide variant (5 prime UTR variant)	Bernard Soulier syndrome	GLikely benign
Select item 901795	NM_000174.5(GP9):c.-124C>T	GP9	Single nucleotide variant (5 prime UTR variant)	Bernard Soulier syndrome	GUncertain significance
Select item 901796	NM_000174.5(GP9):c.-87T>C	GP9	Single nucleotide variant (5 prime UTR variant)	Bernard Soulier syndrome +1 more	GBenign
Select item 343216	NM_000174.5(GP9):c.-78C>A	GP9	Single nucleotide variant (5 prime UTR variant)	Bernard Soulier syndrome	GUncertain significance
Select item 343217	NM_000174.5(GP9):c.-39G>A	GP9	Single nucleotide variant (5 prime UTR variant)	Bernard Soulier syndrome	GUncertain significance
Select item 343218	NM_000174.5(GP9):c.-30T>C	GP9	Single nucleotide variant (5 prime UTR variant)	Bernard Soulier syndrome	GUncertain significance
Select item 343219	NM_000174.5(GP9):c.-16G>T	GP9	Single nucleotide variant (5 prime UTR variant)	Bernard Soulier syndrome	GUncertain significance
Select item 631904	NM_000174.5(GP9):c.-13+2T>C	GP9	Single nucleotide variant (splice donor variant)	Bernard Soulier syndrome	GUncertain significance
Select item 662842	NC_000003.12:g.(?_129061730)_(129062283_?)del	GP9	Deletion	not provided	GPathogenic
Select item 2573379	NM_000174.5(GP9):c.8_11dup (p.Trp4fs)	GP9 (W4fs)	Microsatellite (frameshift variant +1 more)	Bernard Soulier syndrome	GPathogenic
Select item 2190152	NM_000174.5(GP9):c.2T>C (p.Met1Thr)	GP9 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 902701	NM_000174.5(GP9):c.18C>T (p.Ala6=)	GP9	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 13534	NM_000174.5(GP9):c.20T>C (p.Leu7Pro)	GP9 (L7P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1130345	NM_000174.5(GP9):c.30C>G (p.Leu10=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3366941	NM_000174.5(GP9):c.46dup (p.Ala16fs)	GP9 (A16fs)	Duplication (frameshift variant)	Bernard Soulier syndrome	GPathogenic
Select item 2983391	NM_000174.5(GP9):c.69A>G (p.Pro23=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 13533	NM_000174.5(GP9):c.70T>C (p.Cys24Arg)	GP9 (C24R)	Single nucleotide variant (missense variant)	Bernard Soulier syndrome +1 more	GPathogenic
Select item 1096068	NM_000174.5(GP9):c.75C>T (p.Thr25=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985901	NM_000174.5(GP9):c.78C>T (p.Cys26=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 728112	NM_000174.5(GP9):c.80G>A (p.Arg27His)	GP9 (R27H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2890182	NM_000174.5(GP9):c.87G>A (p.Leu29=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2909018	NM_000174.5(GP9):c.93C>T (p.Thr31=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893553	NM_000174.5(GP9):c.99G>T (p.Gly33=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1587003	NM_000174.5(GP9):c.99G>A (p.Gly33=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1131221	NM_000174.5(GP9):c.102G>A (p.Leu34=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889144	NM_000174.5(GP9):c.108G>A (p.Val36=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 13530	NM_000174.5(GP9):c.110A>G (p.Asp37Gly)	GP9 (D37G)	Single nucleotide variant (missense variant)	Bernard-Soulier syndrome type C	GPathogenic
Select item 2734558	NM_000174.5(GP9):c.119del (p.Gly40fs)	GP9 (G40fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 723429	NM_000174.5(GP9):c.123C>T (p.His41=)	GP9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2462923	NM_000174.5(GP9):c.124G>A (p.Gly42Arg)	GP9 (G42R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2893294	NM_000174.5(GP9):c.125G>T (p.Gly42Val)	GP9 (G42V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 902702	NM_000174.5(GP9):c.131C>T (p.Thr44Met)	GP9 (T44M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 255471	NM_000174.5(GP9):c.132G>A (p.Thr44=)	GP9	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2416082	NM_000174.5(GP9):c.138G>C (p.Leu46=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2504691	NM_000174.5(GP9):c.149C>T (p.Pro50Leu)	GP9 (P50L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1591160	NM_000174.5(GP9):c.150G>T (p.Pro50=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3101078	NM_000174.5(GP9):c.154C>T (p.Arg52Cys)	GP9 (R52C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1149217	NM_000174.5(GP9):c.165C>T (p.His55=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 13532	NM_000174.5(GP9):c.167T>C (p.Leu56Pro)	GP9 (L56P)	Single nucleotide variant (missense variant)	Bernard-Soulier syndrome type C	GPathogenic
Select item 1094514	NM_000174.5(GP9):c.171G>C (p.Leu57=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 13529	NM_000174.5(GP9):c.182A>G (p.Asn61Ser)	GP9 (N61S)	Single nucleotide variant (missense variant)	Bernard Soulier syndrome +3 more	GPathogenic/Likely pathogenic
Select item 1638414	NM_000174.5(GP9):c.195C>T (p.Ser65=)	GP9	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 902703	NM_000174.5(GP9):c.203C>T (p.Pro68Leu)	GP9 (P68L)	Single nucleotide variant (missense variant)	Bernard Soulier syndrome	GUncertain significance
Select item 1491487	NM_000174.5(GP9):c.212T>G (p.Phe71Cys)	GP9 (F71C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 13531	NM_000174.5(GP9):c.212T>C (p.Phe71Ser)	GP9 (F71S)	Single nucleotide variant (missense variant)	Macrothrombocytopenia +2 more	GPathogenic
Select item 2982948	NM_000174.5(GP9):c.219C>T (p.His73=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1915240	NM_000174.5(GP9):c.224C>T (p.Pro75Leu)	GP9 (P75L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 900152	NM_000174.5(GP9):c.236C>T (p.Thr79Ile)	GP9 (T79I)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 2890854	NM_000174.5(GP9):c.240C>T (p.Leu80=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2202172	NM_000174.5(GP9):c.241G>A (p.Asp81Asn)	GP9 (D81N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1553179	NM_000174.5(GP9):c.249G>T (p.Thr83=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1121063	NM_000174.5(GP9):c.249G>A (p.Thr83=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1084639	NM_000174.5(GP9):c.252G>A (p.Gln84=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1691236	NM_000174.5(GP9):c.259T>C (p.Trp87Arg)	GP9 (W87R)	Single nucleotide variant (missense variant)	Bernard Soulier syndrome	GLikely pathogenic
Select item 2503896	NM_000174.5(GP9):c.284A>G (p.Tyr95Cys)	GP9 (Y95C)	Single nucleotide variant (missense variant)	Bernard Soulier syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2065315	NM_000174.5(GP9):c.289C>T (p.Arg97Cys)	GP9 (R97C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1077263	NM_000174.5(GP9):c.290G>A (p.Arg97His)	GP9 (R97H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2046737	NM_000174.5(GP9):c.312G>T (p.Thr104=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1108628	NM_000174.5(GP9):c.312G>A (p.Thr104=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1557959	NM_000174.5(GP9):c.315C>T (p.Pro105=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1570008	NM_000174.5(GP9):c.318G>A (p.Glu106=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886428	NM_000174.5(GP9):c.327G>A (p.Leu109=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 900153	NM_000174.5(GP9):c.334C>T (p.Arg112Cys)	GP9 (R112C)	Single nucleotide variant (missense variant)	Bernard Soulier syndrome +2 more	GUncertain significance
Select item 282917	NM_000174.5(GP9):c.335G>A (p.Arg112His)	GP9 (R112H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 623661	NM_000174.5(GP9):c.337del (p.Cys113fs)	GP9 (C113fs)	Deletion (frameshift variant)	Macrothrombocytopenia	GPathogenic
Select item 1684361	NM_000174.5(GP9):c.341C>T (p.Ala114Val)	GP9 (A114V)	Single nucleotide variant (missense variant)	Bernard Soulier syndrome	GUncertain significance
Select item 1150760	NM_000174.5(GP9):c.342C>T (p.Ala114=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 766651	NM_000174.5(GP9):c.345C>T (p.Ser115=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1146596	NM_000174.5(GP9):c.351C>T (p.Ser117=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 750829	NM_000174.5(GP9):c.354C>T (p.Leu118=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2718566	NM_000174.5(GP9):c.363T>C (p.His121=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2019906	NM_000174.5(GP9):c.366C>T (p.Gly122=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 343220	NM_000174.5(GP9):c.368C>T (p.Pro123Leu)	GP9 (P123L)	Single nucleotide variant (missense variant)	Bernard Soulier syndrome +2 more	GUncertain significance
Select item 796288	NM_000174.5(GP9):c.369G>A (p.Pro123=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2753474	NM_000174.5(GP9):c.384A>T (p.Thr128=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2151467	NM_000174.5(GP9):c.385G>A (p.Gly129Ser)	GP9 (G129S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1088777	NM_000174.5(GP9):c.387C>T (p.Gly129=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 993015	NM_000174.5(GP9):c.404G>T (p.Cys135Phe)	GP9 (C135F)	Single nucleotide variant (missense variant)	Bernard Soulier syndrome	GLikely pathogenic
Select item 900154	NM_000174.5(GP9):c.423G>A (p.Ala141=)	GP9	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2503424	NM_000174.5(GP9):c.429G>A (p.Trp143Ter)	GP9 (W143*)	Single nucleotide variant (nonsense)	Bernard Soulier syndrome	GLikely pathogenic
Select item 3356451	NM_000174.5(GP9):c.434G>A (p.Arg145His)	GP9 (R145H)	Single nucleotide variant (missense variant)	GP9-related disorder	GLikely benign
Select item 343221	NM_000174.5(GP9):c.438G>A (p.Pro146=)	GP9	Single nucleotide variant (synonymous variant)	Bernard Soulier syndrome	GUncertain significance
Select item 1080947	NM_000174.5(GP9):c.441G>A (p.Gly147=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 721252	NM_000174.5(GP9):c.445T>C (p.Leu149=)	GP9	Single nucleotide variant (synonymous variant)	Bernard Soulier syndrome +1 more	GBenign
Select item 2268632	NM_000174.5(GP9):c.451G>A (p.Asp151Asn)	GP9 (D151N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2968816	NM_000174.5(GP9):c.453C>T (p.Asp151=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2635956	NM_000174.5(GP9):c.454G>A (p.Val152Met)	GP9 (V152M)	Single nucleotide variant (missense variant)	GP9-related disorder	GUncertain significance
Select item 1122031	NM_000174.5(GP9):c.459G>A (p.Ala153=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1337399	NM_000174.5(GP9):c.461T>C (p.Leu154Pro)	GP9 (L154P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2912557	NM_000174.5(GP9):c.462G>T (p.Leu154=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2140390	NM_000174.5(GP9):c.462G>C (p.Leu154=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1654885	NM_000174.5(GP9):c.465C>T (p.Val155=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 196227	NM_000174.5(GP9):c.466G>A (p.Ala156Thr)	GP9 (A156T)	Single nucleotide variant (missense variant)	Bernard Soulier syndrome +2 more	GBenign
Select item 2741150	NM_000174.5(GP9):c.468C>A (p.Ala156=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2049152	NM_000174.5(GP9):c.469G>A (p.Val157Met)	GP9 (V157M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3339408	NM_000174.5(GP9):c.470T>C (p.Val157Ala)	GP9 (V157A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2099253	NM_000174.5(GP9):c.474C>A (p.Ala158=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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