ClinVar for Gene (Select 8328) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3099446	NM_001377304.1(GFI1B):c.98C>G (p.Pro33Arg)	GFI1B (P33R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099445	NM_001377304.1(GFI1B):c.71A>G (p.Glu24Gly)	GFI1B (E24G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099444	NM_001377304.1(GFI1B):c.665G>A (p.Cys222Tyr)	GFI1B (C222Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099443	NM_001377304.1(GFI1B):c.542A>T (p.His181Leu)	GFI1B (H181L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3099442	NM_001377304.1(GFI1B):c.524C>G (p.Pro175Arg)	GFI1B (P175R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3099441	NM_001377304.1(GFI1B):c.122G>A (p.Ser41Asn)	GFI1B (S41N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 3051494	NM_001377304.1(GFI1B):c.98C>T (p.Pro33Leu)	GFI1B (P33L)	Single nucleotide variant (missense variant)	GFI1B-related disorder	GLikely benign
Select item 3051406	NM_001377304.1(GFI1B):c.591C>T (p.Cys197=)	GFI1B	Single nucleotide variant (synonymous variant +1 more)	GFI1B-related disorder	GLikely benign
Select item 3037398	NM_001377304.1(GFI1B):c.289G>A (p.Asp97Asn)	GFI1B (D97N)	Single nucleotide variant (missense variant)	GFI1B-related disorder	GLikely benign
Select item 3034004	NM_001377304.1(GFI1B):c.735G>A (p.Thr245=)	GFI1B	Single nucleotide variant (synonymous variant)	GFI1B-related disorder	GLikely benign
Select item 3030946	NM_001377304.1(GFI1B):c.676G>A (p.Gly226Ser)	GFI1B (G180S +2 more)	Single nucleotide variant (missense variant)	GFI1B-related disorder	GUncertain significance
Select item 2664801	NM_001377304.1(GFI1B):c.869A>G (p.Asn290Ser)	GFI1B (N244S +2 more)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 17	GUncertain significance
Select item 2664765	NM_001377304.1(GFI1B):c.649-5G>C	GFI1B (R237P)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 17	GUncertain significance
Select item 2629225	NM_001377304.1(GFI1B):c.358C>T (p.Arg120Trp)	GFI1B (R120W)	Single nucleotide variant (missense variant)	GFI1B-related disorder	GUncertain significance
Select item 2627763	NM_001377304.1(GFI1B):c.230C>T (p.Pro77Leu)	GFI1B (P77L)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 17	GUncertain significance
Select item 2581469	NM_001377304.1(GFI1B):c.-16G>A	GFI1B	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 2572114	NM_001377304.1(GFI1B):c.782C>G (p.Ser261Cys)	GFI1B (S215C +2 more)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 17	GLikely benign
Select item 2513397	NM_001377304.1(GFI1B):c.668G>A (p.Arg223His)	GFI1B (R223H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506299	NM_001377304.1(GFI1B):c.548G>A (p.Arg183Gln)	GFI1B (R183Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2499109	NM_001377304.1(GFI1B):c.592G>A (p.Gly198Ser)	GFI1B (G198S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2482556	NM_001377304.1(GFI1B):c.413A>G (p.Tyr138Cys)	GFI1B (Y138C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2432115	NM_001377304.1(GFI1B):c.760G>A (p.Gly254Ser)	GFI1B (G208S +2 more)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 17	GUncertain significance
Select item 2432114	NM_001377304.1(GFI1B):c.648G>C (p.Gln216His)	GFI1B (Q216H)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 17	GUncertain significance
Select item 2426262	NC_000009.11:g.(?_131087402)_(141016451_?)dup	ABCA2, ABL1 +187 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2425935	NC_000009.11:g.(?_131857676)_(135942612_?)dup	ABL1, AIF1L +45 more	Duplication	not provided	GUncertain significance
Select item 2425485	NC_000009.11:g.(?_133884602)_(135942612_?)dup	AIF1L, AK8 +21 more	Duplication	not provided	GUncertain significance
Select item 2422970	NC_000009.11:g.(?_135139626)_(140034216_?)dup	ABCA2, ABO +100 more	Duplication	Autosomal dominant nocturnal frontal lobe epilepsy 5 +4 more	GUncertain significance
Select item 2422969	NC_000009.11:g.(?_135775735)_(135866437_?)dup	GFI1B, TSC1	Duplication	Tuberous sclerosis 1	GUncertain significance
Select item 2366610	NM_001377304.1(GFI1B):c.179T>C (p.Leu60Pro)	GFI1B (L60P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362708	NM_001377304.1(GFI1B):c.577G>A (p.Ala193Thr)	GFI1B (A193T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2346239	NM_001377304.1(GFI1B):c.469T>C (p.Ser157Pro)	GFI1B (S157P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284197	NM_001377304.1(GFI1B):c.511G>T (p.Val171Phe)	GFI1B (V171F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2265948	NM_001377304.1(GFI1B):c.371C>G (p.Ser124Cys)	GFI1B (S124C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1808330	GRCh37/hg19 9q34.13-34.2(chr9:135354006-135950908)x3	BARHL1, CEL +8 more	Copy number gain	not provided	GUncertain significance
Select item 1705843	NM_001377304.1(GFI1B):c.692G>T (p.Arg231Leu)	GFI1B (R185L +2 more)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 17	GPathogenic
Select item 1703853	NM_001377304.1(GFI1B):c.520A>G (p.Thr174Ala)	GFI1B (T174A)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 17	GPathogenic
Select item 1702704	NM_001377304.1(GFI1B):c.485C>T (p.Ala162Val)	GFI1B (A162V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1702558	NM_001377304.1(GFI1B):c.610G>T (p.Ala204Ser)	GFI1B (A204S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1696834	NC_000009.12:g.132691768_133013020del	TSC1, AK8 +11 more	Deletion	Tuberous sclerosis 1	GPathogenic
Select item 1695382	NM_001377304.1(GFI1B):c.503G>T (p.Cys168Phe)	GFI1B (C168F)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 17 +1 more	GConflicting classifications of pathogenicity
Select item 1684454	NM_001377304.1(GFI1B):c.551G>C (p.Arg184Pro)	GFI1B (R184P)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 17	GLikely pathogenic
Select item 1684451	NM_001377304.1(GFI1B):c.551G>A (p.Arg184His)	GFI1B (R184H)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 17 +1 more	GUncertain significance
Select item 1684450	NM_001377304.1(GFI1B):c.758G>A (p.Cys253Tyr)	GFI1B (C207Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1684412	NM_001377304.1(GFI1B):c.521C>T (p.Thr174Ile)	GFI1B (T174I)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 17	GLikely pathogenic
Select item 1677259	NM_001377304.1(GFI1B):c.981C>G (p.His327Gln)	GFI1B (H281Q +2 more)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 17	GUncertain significance
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1409567	NC_000009.11:g.(?_135819930)_(135946065_?)dup	CEL, GFI1B +2 more	Duplication	Tuberous sclerosis 1	GUncertain significance
Select item 1399108	NC_000009.11:g.(?_135819930)_(135942602_?)dup	CEL, GFI1B +2 more	Duplication	Tuberous sclerosis 1	GUncertain significance
Select item 1338724	NM_001377304.1(GFI1B):c.731del (p.Asp244fs)	GFI1B (D198fs +2 more)	Deletion (frameshift variant)	Platelet-type bleeding disorder 17	GUncertain significance
Select item 1337338	NM_001377304.1(GFI1B):c.278C>T (p.Ser93Phe)	GFI1B (S93F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1337036	NM_001377304.1(GFI1B):c.648+4G>T	GFI1B	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1336060	NM_001377304.1(GFI1B):c.148T>C (p.Phe50Leu)	GFI1B (F50L)	Single nucleotide variant (missense variant)	GFI1B-related disorder +1 more	GBenign/Likely benign
Select item 1336041	NM_001377304.1(GFI1B):c.239-9T>A	GFI1B	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1307062	NM_001377304.1(GFI1B):c.59T>A (p.Val20Glu)	GFI1B (V20E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1299163	NM_001377304.1(GFI1B):c.455T>A (p.Phe152Tyr)	GFI1B (F152Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1295072	NM_001377304.1(GFI1B):c.*256A>G	GFI1B	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1290364	NM_001377304.1(GFI1B):c.814+65A>G	GFI1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289097	NM_001377304.1(GFI1B):c.239-99A>G	GFI1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288786	NM_001377304.1(GFI1B):c.238+229G>A	GFI1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276792	NM_001377304.1(GFI1B):c.239-289G>A	GFI1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272745	NM_001377304.1(GFI1B):c.101-37C>T	GFI1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271680	NM_001377304.1(GFI1B):c.511-169G>A	GFI1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261847	NM_001377304.1(GFI1B):c.-20-48T>G	GFI1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257682	NM_001377304.1(GFI1B):c.815-105C>T	GFI1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252524	NM_001377304.1(GFI1B):c.101-174C>T	GFI1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251303	NM_001377304.1(GFI1B):c.511-12C>G	GFI1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248257	NM_001377304.1(GFI1B):c.239-82G>A	GFI1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244561	NM_001377304.1(GFI1B):c.649-270A>G	GFI1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241135	NM_001377304.1(GFI1B):c.814+202T>C	GFI1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240764	NM_001377304.1(GFI1B):c.101-77A>C	GFI1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239181	NM_001377304.1(GFI1B):c.511-271C>T	GFI1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234115	NM_001377304.1(GFI1B):c.101-190G>A	GFI1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233811	NM_001377304.1(GFI1B):c.238+181T>C	GFI1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222838	NM_001377304.1(GFI1B):c.238+178G>C	GFI1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181247	NM_001377304.1(GFI1B):c.*211C>G	GFI1B	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1178621	NM_001377304.1(GFI1B):c.511-258A>C	GFI1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1048772	NM_001377304.1(GFI1B):c.550C>T (p.Arg184Cys)	GFI1B (R184C)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1012632	NM_001377304.1(GFI1B):c.521C>A (p.Thr174Asn)	GFI1B (T174N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 988821	NM_001377304.1(GFI1B):c.814+1G>A	GFI1B	Single nucleotide variant (splice donor variant)	Thrombocytopenia +1 more	GPathogenic
Select item 853499	NM_000368.4(TSC1):c.-234-1616_-234-235del1382	GFI1B, MIR548AW +1 more	Deletion (genic upstream transcript variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 833105	NC_000009.11:g.(?_135771850)_(137038881_?)dup	FAM163B, GBGT1 +26 more	Duplication	Tuberous sclerosis 1	GUncertain significance
Select item 832997	NC_000009.11:g.(?_135771602)_(136769889_?)dup	ABO, ADAMTS13 +23 more	Duplication	Tuberous sclerosis 1	GUncertain significance
Select item 790269	NM_001377304.1(GFI1B):c.238+7C>T	GFI1B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 788675	NM_001377304.1(GFI1B):c.576C>T (p.Phe192=)	GFI1B	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 786580	NM_001377304.1(GFI1B):c.100G>A (p.Val34Met)	GFI1B (V34M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 776457	NM_001377304.1(GFI1B):c.610G>A (p.Ala204Thr)	GFI1B (A204T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 764086	NM_001377304.1(GFI1B):c.723C>A (p.Ile241=)	GFI1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 757351	NM_001377304.1(GFI1B):c.67G>A (p.Asp23Asn)	GFI1B (D23N)	Single nucleotide variant (missense variant)	GFI1B-related disorder +1 more	GBenign
Select item 754065	NM_001377304.1(GFI1B):c.178C>A (p.Leu60Ile)	GFI1B (L60I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 720848	NM_001377304.1(GFI1B):c.609C>T (p.His203=)	GFI1B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 716946	NM_001377304.1(GFI1B):c.242G>T (p.Gly81Val)	GFI1B (G81V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 712063	NM_001377304.1(GFI1B):c.293C>T (p.Ser98Leu)	GFI1B (S98L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 710734	NM_001377304.1(GFI1B):c.624G>A (p.Glu208=)	GFI1B	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 709560	NM_001377304.1(GFI1B):c.414C>T (p.Tyr138=)	GFI1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	ABCA1, ABCA2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	ABCA1, ABCA2 +769 more	Copy number gain	not provided	GPathogenic
Select item 685002	GRCh37/hg19 9q34.13-34.2(chr9:135699918-136011082)x3	AK8, CEL +5 more	Copy number gain	not provided	GUncertain significance
Select item 652388	NC_000009.11:g.(?_134379574)_(138678377_?)dup	GTF3C4, GTF3C5 +55 more	Duplication	Ehlers-Danlos syndrome, classic type	GUncertain significance
Select item 627337	NM_001377304.1(GFI1B):c.581G>A (p.Cys194Tyr)	GFI1B (C194Y)	Single nucleotide variant (missense variant +1 more)	Thrombocytopenia +1 more	GUncertain significance

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