ClinVar for MedGen (Select 2212) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065872	NM_000407.5(GP1BB):c.53_65del (p.Pro18fs)	GP1BB, SEPT5-GP1BB (P18fs)	Deletion (non-coding transcript variant +1 more)	Bernard Soulier syndrome	GLikely pathogenic
Select item 2664830	NM_000407.5(GP1BB):c.148C>A (p.Pro50Thr)	GP1BB, SEPT5-GP1BB (P50T)	Single nucleotide variant (non-coding transcript variant +1 more)	Bernard Soulier syndrome	GUncertain significance
Select item 2664802	NM_000407.5(GP1BB):c.240_246dup (p.Thr83fs)	GP1BB, SEPT5-GP1BB (T83fs)	Duplication (frameshift variant +1 more)	Bernard Soulier syndrome	GLikely pathogenic
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 2572657	NM_000407.5(GP1BB):c.170C>T (p.Thr57Ile)	GP1BB, SEPT5-GP1BB (T57I)	Single nucleotide variant (non-coding transcript variant +1 more)	Bernard Soulier syndrome	GUncertain significance
Select item 2572155	NM_000407.5(GP1BB):c.343G>T (p.Asp115Tyr)	GP1BB, SEPT5-GP1BB (D115Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Bernard Soulier syndrome	GUncertain significance
Select item 2572149	NM_000407.5(GP1BB):c.272G>A (p.Trp91Ter)	GP1BB, SEPT5-GP1BB (W91*)	Single nucleotide variant (non-coding transcript variant +1 more)	Bernard Soulier syndrome	GLikely pathogenic
Select item 2572137	NM_000173.7(GP1BA):c.1655T>A (p.Leu552Gln)	GP1BA (L552Q)	Single nucleotide variant (missense variant)	Bernard Soulier syndrome +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 2572122	NM_000407.5(GP1BB):c.124_145del (p.Arg42fs)	GP1BB, SEPT5-GP1BB (R42fs)	Deletion (frameshift variant +1 more)	Bernard Soulier syndrome	GPathogenic
Select item 2572096	NM_000407.5(GP1BB):c.536_545del (p.Arg179fs)	GP1BB, SEPT5-GP1BB (R179fs)	Deletion (non-coding transcript variant +1 more)	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 2503424	NM_000174.5(GP9):c.429G>A (p.Trp143Ter)	GP9 (W143*)	Single nucleotide variant (nonsense)	Bernard Soulier syndrome	GLikely pathogenic
Select item 2432237	NM_000407.5(GP1BB):c.436C>T (p.Leu146Phe)	GP1BB, SEPT5-GP1BB (L146F)	Single nucleotide variant (non-coding transcript variant +1 more)	Bernard Soulier syndrome +1 more	GUncertain significance
Select item 2065315	NM_000174.5(GP9):c.289C>T (p.Arg97Cys)	GP9 (R97C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1705376	NM_000407.5(GP1BB):c.2T>C (p.Met1Thr)	GP1BB, SEPT5-GP1BB (M1T)	Single nucleotide variant (non-coding transcript variant +2 more)	Bernard Soulier syndrome	GLikely pathogenic
Select item 1703862	NM_000407.5(GP1BB):c.22dup (p.Ala8fs)	GP1BB, SEPT5-GP1BB (A8fs)	Duplication (non-coding transcript variant +1 more)	Bernard Soulier syndrome	GPathogenic
Select item 1703861	NM_000407.5(GP1BB):c.278G>A (p.Cys93Tyr)	GP1BB, SEPT5-GP1BB (C93Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Bernard Soulier syndrome	GLikely pathogenic
Select item 1703860	NM_000407.5(GP1BB):c.462_511del (p.Gln154fs)	GP1BB, SEPT5-GP1BB (Q154fs)	Deletion (frameshift variant +1 more)	Bernard Soulier syndrome	GLikely pathogenic
Select item 1703859	NM_000407.5(GP1BB):c.491dup (p.His164fs)	GP1BB, SEPT5-GP1BB (H164fs)	Duplication (non-coding transcript variant +1 more)	Bernard Soulier syndrome	GLikely pathogenic
Select item 1703858	NM_000173.7(GP1BA):c.1846_1852del (p.Asn616fs)	GP1BA, LOC130060044 (N616fs)	Deletion (frameshift variant)	Bernard Soulier syndrome	GPathogenic
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 1691255	NM_000407.5(GP1BB):c.317_320dup (p.Glu109fs)	GP1BB, SEPT5-GP1BB (E109fs)	Microsatellite (non-coding transcript variant +1 more)	Bernard Soulier syndrome	GPathogenic
Select item 1691254	NM_000407.5(GP1BB):c.268C>T (p.Pro90Ser)	GP1BB, SEPT5-GP1BB (P90S)	Single nucleotide variant (non-coding transcript variant +1 more)	Bernard Soulier syndrome	GLikely pathogenic
Select item 1691253	NM_000407.5(GP1BB):c.1A>T (p.Met1Leu)	GP1BB, SEPT5-GP1BB (M1L)	Single nucleotide variant (non-coding transcript variant +2 more)	Bernard Soulier syndrome	GPathogenic
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 1691236	NM_000174.5(GP9):c.259T>C (p.Trp87Arg)	GP9 (W87R)	Single nucleotide variant (missense variant)	Bernard Soulier syndrome	GLikely pathogenic
Select item 1691234	NM_000407.5(GP1BB):c.80C>T (p.Pro27Leu)	GP1BB, SEPT5-GP1BB (P27L)	Single nucleotide variant (non-coding transcript variant +1 more)	Bernard Soulier syndrome	GLikely pathogenic
Select item 1691233	NM_000407.5(GP1BB):c.500T>C (p.Leu167Pro)	GP1BB, SEPT5-GP1BB (L167P)	Single nucleotide variant (non-coding transcript variant +1 more)	Bernard Soulier syndrome	GPathogenic
Select item 1691232	NM_000407.5(GP1BB):c.443G>A (p.Trp148Ter)	GP1BB, SEPT5-GP1BB (W148*)	Single nucleotide variant (non-coding transcript variant +1 more)	Bernard Soulier syndrome	GPathogenic
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
Select item 1684365	NM_000173.7(GP1BA):c.434T>C (p.Leu145Pro)	GP1BA (L145P)	Single nucleotide variant (missense variant)	not provided +2 more	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 1684329	NM_000407.5(GP1BB):c.242T>G (p.Leu81Arg)	GP1BB, SEPT5-GP1BB (L81R)	Single nucleotide variant (non-coding transcript variant +1 more)	Bernard Soulier syndrome	GUncertain significance
Select item 1679421	NM_000407.5(GP1BB):c.400G>A (p.Glu134Lys)	GP1BB, SEPT5-GP1BB (E134K)	Single nucleotide variant (non-coding transcript variant +1 more)	Bernard Soulier syndrome	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 1679419	NM_000173.7(GP1BA):c.499G>T (p.Glu167Ter)	GP1BA (E167*)	Single nucleotide variant (nonsense)	Bernard Soulier syndrome	GPathogenic
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 +1 more	GConflicting classifications of pathogenicity
Select item 1679216	NM_000173.7(GP1BA):c.251_253del (p.Thr84del)	GP1BA (T84del)	Deletion (inframe_deletion)	Bernard Soulier syndrome	GUncertain significance
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 1679210	NM_000407.5(GP1BB):c.406G>T (p.Glu136Ter)	GP1BB, SEPT5-GP1BB (E136*)	Single nucleotide variant (non-coding transcript variant +1 more)	Bernard Soulier syndrome	GLikely pathogenic
Select item 1677264	NM_000173.7(GP1BA):c.463C>G (p.Leu155Val)	GP1BA (L155V)	Single nucleotide variant (missense variant)	Bernard-Soulier syndrome, type A2, autosomal dominant +1 more	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 1338739	NM_000174.5(GP9):c.-210_*133del (p.Met1fs)	GP9 (M1fs)	Deletion (frameshift variant +3 more)	Bernard Soulier syndrome	GPathogenic
Select item 1338214	NM_000173.7(GP1BA):c.1845_1849del (p.Asn616fs)	GP1BA, LOC130060044 (N616fs)	Deletion (frameshift variant)	GP1BA-related disorder +6 more	GUncertain significance
Select item 1333009	NC_000003.12:g.129058767_129062425del	GP9	Deletion (genic downstream transcript variant +1 more)	Bernard Soulier syndrome	GPathogenic
Select item 1324499	NM_000407.5(GP1BB):c.423C>A (p.Cys141Ter)	GP1BB, SEPT5-GP1BB (C141*)	Single nucleotide variant (non-coding transcript variant +1 more)	Bernard Soulier syndrome	GLikely pathogenic
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 1049218	NM_000407.5(GP1BB):c.143C>T (p.Ser48Leu)	SEPT5-GP1BB, GP1BB (S48L)	Single nucleotide variant (non-coding transcript variant +1 more)	Bernard Soulier syndrome	GUncertain significance
Select item 1034192	NM_000407.5(GP1BB):c.215C>T (p.Pro72Leu)	GP1BB, SEPT5-GP1BB (P72L)	Single nucleotide variant (non-coding transcript variant +1 more)	Bernard Soulier syndrome +1 more	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 993015	NM_000174.5(GP9):c.404G>T (p.Cys135Phe)	GP9 (C135F)	Single nucleotide variant (missense variant)	Bernard Soulier syndrome	GLikely pathogenic
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 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 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 901796	NM_000174.5(GP9):c.-87T>C	GP9	Single nucleotide variant (5 prime UTR variant)	Bernard Soulier syndrome	GBenign
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 901794	NM_000174.5(GP9):c.-138-3C>G	GP9	Single nucleotide variant (intron variant)	Bernard Soulier syndrome	GLikely benign
Select item 901319	NM_000174.5(GP9):c.*51C>T	GP9	Single nucleotide variant (3 prime UTR variant)	Bernard Soulier syndrome	GUncertain significance
Select item 901318	NM_000174.5(GP9):c.524C>T (p.Ala175Val)	GP9 (A175V)	Single nucleotide variant (missense variant)	Bernard Soulier syndrome	GUncertain significance
Select item 900154	NM_000174.5(GP9):c.423G>A (p.Ala141=)	GP9	Single nucleotide variant (synonymous variant)	GP9-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 900153	NM_000174.5(GP9):c.334C>T (p.Arg112Cys)	GP9 (R112C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 900152	NM_000174.5(GP9):c.236C>T (p.Thr79Ile)	GP9 (T79I)	Single nucleotide variant (missense variant)	GP9-related disorder +2 more	GUncertain significance
Select item 872581	NM_000173.7(GP1BA):c.1601_1602del (p.Tyr534fs)	GP1BA (Y534fs)	Deletion (frameshift variant)	Bernard Soulier syndrome +3 more	GPathogenic/Likely pathogenic
Select item 808198	NM_000173.7(GP1BA):c.1761A>C (p.Gln587His)	GP1BA, LOC130060044 (Q587H)	Single nucleotide variant (missense variant)	Bernard Soulier syndrome +4 more	GUncertain significance
Select item 771784	NM_000407.5(GP1BB):c.389C>T (p.Pro130Leu)	GP1BB, SEPT5-GP1BB (P130L)	Single nucleotide variant (non-coding transcript variant +1 more)	GP1BB-related condition +3 more	GConflicting classifications of pathogenicity
Select item 731652	NM_000407.5(GP1BB):c.119G>A (p.Gly40Glu)	GP1BB, SEPT5-GP1BB (G40E)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign/Likely benign
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 721252	NM_000174.5(GP9):c.445T>C (p.Leu149=)	GP9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 627320	NM_000407.5(GP1BB):c.47T>C (p.Leu16Pro)	GP1BB, SEPT5-GP1BB (L16P)	Single nucleotide variant (non-coding transcript variant +1 more)	Thrombocytopenia +2 more	GPathogenic/Likely pathogenic
Select item 627304	NM_000407.5(GP1BB):c.410T>C (p.Leu137Pro)	GP1BB, SEPT5-GP1BB (L137P)	Single nucleotide variant (non-coding transcript variant +1 more)	Bernard Soulier syndrome	GLikely pathogenic
Select item 627082	NM_000407.5(GP1BB):c.505_516dup (p.Val169_Leu172dup)	GP1BB, SEPT5-GP1BB	Duplication (non-coding transcript variant +1 more)	Bernard Soulier syndrome	GLikely pathogenic
Select item 627039	NM_000407.5(GP1BB):c.236_244del (p.Pro79_Leu81del)	GP1BB, SEPT5-GP1BB	Deletion (non-coding transcript variant +1 more)	Thrombocytopenia +1 more	GConflicting classifications of pathogenicity
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 523620	NM_000173.7(GP1BA):c.104del (p.Lys35fs)	GP1BA (K35fs)	Deletion (frameshift variant)	Bernard Soulier syndrome +1 more	GPathogenic
Select item 435348	NM_000173.7(GP1BA):c.1282_1359del (p.415_427SEPAPSPTTPEPT[1])	GP1BA	Deletion (inframe_deletion)	not specified +2 more	GBenign/Likely benign
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 435346	NM_000173.7(GP1BA):c.1322_1344del (p.Ser441fs)	GP1BA (S441fs)	Deletion (frameshift variant)	Pseudo von Willebrand disease +5 more	GBenign/Likely benign
Select item 417940	NM_000173.7(GP1BA):c.256C>T (p.Leu86Phe)	GP1BA (L86F)	Single nucleotide variant (missense variant)	GP1BA-related disorder +1 more	GBenign/Likely benign
Select item 369385	NM_000174.4(GP9):c.*143dupT	GP9	Duplication	not provided +1 more	GBenign
Select item 343224	NM_000174.5(GP9):c.*38C>T	GP9	Single nucleotide variant (3 prime UTR variant)	Bernard Soulier syndrome	GUncertain significance
Select item 343223	NM_000174.5(GP9):c.533G>A (p.Ter178=)	GP9	Single nucleotide variant (synonymous variant)	Bernard Soulier syndrome +1 more	GConflicting classifications of pathogenicity
Select item 343222	NM_000174.5(GP9):c.501C>G (p.Gly167=)	GP9	Single nucleotide variant (synonymous variant)	Bernard Soulier syndrome +1 more	GConflicting classifications of pathogenicity
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 343220	NM_000174.5(GP9):c.368C>T (p.Pro123Leu)	GP9 (P123L)	Single nucleotide variant (missense variant)	not specified +2 more	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 343218	NM_000174.5(GP9):c.-30T>C	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 343216	NM_000174.5(GP9):c.-78C>A	GP9	Single nucleotide variant (5 prime UTR variant)	Bernard Soulier syndrome	GUncertain significance
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 255471	NM_000174.5(GP9):c.132G>A (p.Thr44=)	GP9	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 255470	NM_000174.5(GP9):c.*7C>T	GP9	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GBenign/Likely benign
Select item 255462	NM_000173.7(GP1BA):c.106A>G (p.Arg36Gly)	GP1BA (R36G)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 196227	NM_000174.5(GP9):c.466G>A (p.Ala156Thr)	GP9 (A156T)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 16040	NM_000407.5(GP1BB):c.137G>A (p.Trp46Ter)	SEPT5-GP1BB, GP1BB (W46*)	Single nucleotide variant (non-coding transcript variant +1 more)	Thrombocytopenia +1 more	GLikely pathogenic
Select item 13533	NM_000174.5(GP9):c.70T>C (p.Cys24Arg)	GP9 (C24R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic

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