Related gene-specific medical variations for Gene (Select 2812) - ClinVar

Links from Gene

Items: 90

	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 3049342	NM_000407.5(GP1BB):c.409C>T (p.Leu137=)	GP1BB, SEPT5-GP1BB	Single nucleotide variant (non-coding transcript variant +1 more)	GP1BB-related condition	GLikely benign
Select item 3047263	NM_000407.5(GP1BB):c.177G>A (p.Glu59=)	GP1BB, SEPT5-GP1BB	Single nucleotide variant (non-coding transcript variant +1 more)	GP1BB-related condition	GLikely benign
Select item 3036458	NM_000407.5(GP1BB):c.249C>G (p.Thr83=)	GP1BB, SEPT5-GP1BB	Single nucleotide variant (non-coding transcript variant +1 more)	GP1BB-related condition	GLikely benign
Select item 3033503	NM_000407.5(GP1BB):c.-14G>A	GP1BB, SEPT5-GP1BB	Single nucleotide variant (non-coding transcript variant +1 more)	GP1BB-related condition	GLikely benign
Select item 3031447	NM_000407.5(GP1BB):c.24G>T (p.Ala8=)	GP1BB, SEPT5-GP1BB	Single nucleotide variant (non-coding transcript variant +1 more)	GP1BB-related condition	GLikely benign
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 2652865	NM_000407.5(GP1BB):c.573G>A (p.Ser191=)	GP1BB, SEPT5-GP1BB	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2637614	NM_000407.5(GP1BB):c.*11G>C	GP1BB, SEPT5-GP1BB	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2637189	NM_000407.5(GP1BB):c.212_244del (p.Pro71_Leu81del)	GP1BB, SEPT5-GP1BB	Deletion (non-coding transcript variant +1 more)	GP1BB-related condition	GUncertain significance
Select item 2632385	NM_000407.5(GP1BB):c.94T>C (p.Cys32Arg)	GP1BB, SEPT5-GP1BB (C32R)	Single nucleotide variant (non-coding transcript variant +1 more)	GP1BB-related condition	GUncertain significance
Select item 2581461	NM_000407.5(GP1BB):c.433C>T (p.Pro145Ser)	GP1BB, SEPT5-GP1BB (P145S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
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 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 2557864	NM_000407.5(GP1BB):c.418G>T (p.Ala140Ser)	GP1BB, SEPT5-GP1BB (A140S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2543666	NM_000407.5(GP1BB):c.584C>G (p.Pro195Arg)	GP1BB, SEPT5-GP1BB (P195R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2543665	NM_000407.5(GP1BB):c.551C>A (p.Ala184Asp)	GP1BB, SEPT5-GP1BB (A184D)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2377515	NM_000407.5(GP1BB):c.533T>G (p.Leu178Arg)	GP1BB, SEPT5-GP1BB (L178R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2323735	NM_000407.5(GP1BB):c.496T>A (p.Leu166Met)	GP1BB, SEPT5-GP1BB (L166M)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2274207	NM_000407.5(GP1BB):c.322C>G (p.Pro108Ala)	GP1BB, SEPT5-GP1BB (P108A)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	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)	SEPT5-GP1BB, 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)	SEPT5-GP1BB, GP1BB (Q154fs)	Deletion (non-coding transcript 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 1701430	NM_000407.5(GP1BB):c.281A>G (p.Asp94Gly)	GP1BB, SEPT5-GP1BB (D94G)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 1695035	NM_000407.5(GP1BB):c.179T>C (p.Leu60Pro)	GP1BB, SEPT5-GP1BB (L60P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
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 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 1684331	NM_000407.5(GP1BB):c.445G>A (p.Gly149Arg)	GP1BB, SEPT5-GP1BB (G149R)	Single nucleotide variant (non-coding transcript variant +1 more)	Mild macrothrombocytopenia	GUncertain significance
Select item 1684330	NM_000407.5(GP1BB):c.454_471del (p.Ala152_Leu157del)	GP1BB, SEPT5-GP1BB	Deletion (non-coding transcript variant +1 more)	Mild macrothrombocytopenia	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 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 1678696	NM_000407.5(GP1BB):c.473T>G (p.Leu158Arg)	GP1BB, SEPT5-GP1BB (L158R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 1338722	NM_000407.5(GP1BB):c.*77G>C	GP1BB, SEPT5-GP1BB	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1338624	NM_000407.5(GP1BB):c.448dup (p.Ala150fs)	GP1BB, SEPT5-GP1BB (A150fs)	Duplication (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 1338488	NM_000407.5(GP1BB):c.1A>G (p.Met1Val)	GP1BB, SEPT5-GP1BB (M1V)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GPathogenic
Select item 1338344	NM_000407.5(GP1BB):c.296C>T (p.Pro99Leu)	GP1BB, SEPT5-GP1BB (P99L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
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 1320932	NM_000407.5(GP1BB):c.544G>A (p.Ala182Thr)	GP1BB, SEPT5-GP1BB (A182T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1226396	NM_000407.5(GP1BB):c.*107C>T	GP1BB, SEPT5-GP1BB	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
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	GUncertain significance
Select item 1013202	NM_000407.5(GP1BB):c.144G>T (p.Ser48=)	GP1BB, SEPT5-GP1BB	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 843687	NM_000407.5(GP1BB):c.112G>C (p.Asp38His)	GP1BB, SEPT5-GP1BB (D38H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 812971	NM_000407.5(GP1BB):c.203C>T (p.Thr68Met)	GP1BB, SEPT5-GP1BB (T68M)	Single nucleotide variant (non-coding transcript variant +1 more)	Macrothrombocytopenia	GLikely pathogenic
Select item 812970	NM_000407.5(GP1BB):c.127G>T (p.Gly43Trp)	GP1BB, SEPT5-GP1BB (G43W)	Single nucleotide variant (non-coding transcript variant +1 more)	Macrothrombocytopenia	GConflicting classifications of pathogenicity
Select item 812969	NM_000407.5(GP1BB):c.69_83del (p.Ala24_Ala28del)	GP1BB, SEPT5-GP1BB	Deletion (non-coding transcript variant +1 more)	Macrothrombocytopenia	GLikely pathogenic
Select item 812741	NM_000407.5(GP1BB):c.3G>C (p.Met1Ile)	GP1BB, SEPT5-GP1BB (M1I)	Single nucleotide variant (non-coding transcript variant +2 more)	Macrothrombocytopenia	GLikely pathogenic
Select item 797995	NM_000407.5(GP1BB):c.429C>G (p.Pro143=)	GP1BB, SEPT5-GP1BB	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 757529	NM_000407.5(GP1BB):c.324C>G (p.Pro108=)	GP1BB, SEPT5-GP1BB	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 748794	NM_000407.5(GP1BB):c.336C>G (p.Pro112=)	GP1BB, SEPT5-GP1BB	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 746370	NM_000407.5(GP1BB):c.399C>G (p.Ala133=)	SEPT5-GP1BB, GP1BB	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 734568	NM_000407.5(GP1BB):c.576G>A (p.Leu192=)	GP1BB, SEPT5-GP1BB	Single nucleotide variant (non-coding transcript variant +1 more)	GP1BB-related condition +1 more	GLikely benign
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 728381	NM_000407.5(GP1BB):c.102G>A (p.Gly34=)	GP1BB, SEPT5-GP1BB	Single nucleotide variant (non-coding transcript variant +1 more)	GP1BB-related condition +1 more	GLikely benign
Select item 727504	NM_000407.5(GP1BB):c.306C>T (p.Ala102=)	GP1BB, SEPT5-GP1BB	Single nucleotide variant (non-coding transcript variant +1 more)	GP1BB-related condition +1 more	GBenign
Select item 721649	NM_000407.5(GP1BB):c.544G>T (p.Ala182Ser)	GP1BB, SEPT5-GP1BB (A182S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	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 627297	NM_000407.5(GP1BB):c.307T>C (p.Trp103Arg)	GP1BB, SEPT5-GP1BB (W103R)	Single nucleotide variant (non-coding transcript variant +1 more)	Macrothrombocytopenia	GUncertain significance
Select item 627272	NM_000407.5(GP1BB):c.212C>T (p.Pro71Leu)	GP1BB, SEPT5-GP1BB (P71L)	Single nucleotide variant (non-coding transcript variant +1 more)	Thrombocytopenia	GUncertain significance
Select item 627237	NM_000407.5(GP1BB):c.143C>A (p.Ser48Ter)	GP1BB, SEPT5-GP1BB (S48*)	Single nucleotide variant (non-coding transcript variant +1 more)	Thrombocytopenia	GPathogenic
Select item 627091	NM_000407.5(GP1BB):c.555_556insA (p.Ala186fs)	GP1BB, SEPT5-GP1BB (A186fs)	Insertion (non-coding transcript variant +1 more)	Macrothrombocytopenia	GLikely pathogenic
Select item 627087	NM_000407.5(GP1BB):c.515T>C (p.Leu172Pro)	GP1BB, SEPT5-GP1BB (L172P)	Single nucleotide variant (non-coding transcript variant +1 more)	Macrothrombocytopenia	GUncertain significance
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 627075	NM_000407.5(GP1BB):c.448del (p.Ala150fs)	GP1BB, SEPT5-GP1BB (A150fs)	Deletion (non-coding transcript variant +1 more)	Thrombocytopenia	GLikely pathogenic
Select item 627068	NM_000407.5(GP1BB):c.434C>G (p.Pro145Arg)	GP1BB, SEPT5-GP1BB (P145R)	Single nucleotide variant (non-coding transcript variant +1 more)	Thrombocytopenia	GUncertain significance
Select item 627061	NM_000407.5(GP1BB):c.407A>G (p.Glu136Gly)	GP1BB, SEPT5-GP1BB (E136G)	Single nucleotide variant (non-coding transcript variant +1 more)	Thrombocytopenia	GUncertain significance
Select item 627056	NM_000407.5(GP1BB):c.395T>A (p.Leu132Gln)	GP1BB, SEPT5-GP1BB (L132Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Thrombocytopenia	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)	Bernard Soulier syndrome +1 more	GConflicting classifications of pathogenicity
Select item 626963	NM_000407.5(GP1BB):c.106C>T (p.Leu36Phe)	GP1BB, SEPT5-GP1BB (L36F)	Single nucleotide variant (non-coding transcript variant +1 more)	Abnormal bleeding	GUncertain significance
Select item 395460	GRCh37/hg19 22q11.21(chr22:19711077-19712255)x3	GP1BB	Copy number gain	See cases	GBenign
Select item 289107	NM_000407.5(GP1BB):c.338A>T (p.Tyr113Phe)	GP1BB, SEPT5-GP1BB (Y113F)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 256031	NM_000407.5(GP1BB):c.399C>T (p.Ala133=)	GP1BB, SEPT5-GP1BB	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 158610	NM_000407.5(GP1BB):c.340C>T (p.Arg114Cys)	GP1BB, SEPT5-GP1BB (R114C)	Single nucleotide variant (non-coding transcript variant +1 more)	Bernard-Soulier syndrome, type B	GLikely pathogenic
Select item 16040	NM_000407.5(GP1BB):c.137G>A (p.Trp46Ter)	GP1BB, SEPT5-GP1BB (W46*)	Single nucleotide variant (non-coding transcript variant +1 more)	Bernard Soulier syndrome +1 more	GLikely pathogenic
Select item 16039	NM_000407.5(GP1BB):c.397G>C (p.Ala133Pro)	GP1BB, SEPT5-GP1BB (A133P)	Single nucleotide variant (non-coding transcript variant +1 more)	Macrothrombocytopenia, familial, Bernard-Soulier type	GPathogenic
Select item 16038	NM_000407.5(GP1BB):c.338A>G (p.Tyr113Cys)	GP1BB, SEPT5-GP1BB (Y113C)	Single nucleotide variant (non-coding transcript variant +1 more)	Macrothrombocytopenia, familial, Bernard-Soulier type	GPathogenic

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Items: 90