GFI1B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	MED27, MIGA2 +789 more	Copy number gain	See cases	GPathogenic
Select item 59908	GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	ABL1, ABO +536 more	Copy number gain	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	LOC130003057, LOC130003058 +656 more	Copy number gain	See cases	GPathogenic
Select item 3238673	GRCh38/hg38 9q34.13-34.3(chr9:137552409-137879159)	LOC124375238, LOC124375239 +569 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238671	GRCh38/hg38 9q34.13-34.3(chr9:137552082-137728529)	GBGT1, GLT6D1 +552 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238668	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138052113)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238667	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138059181)	LOC130002921, LOC130002922 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238666	GRCh38/hg38 9q34.13-34.3(chr9:136926151-138059181)	LOC121366034, LOC121366035 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238664	GRCh38/hg38 9q34.13-34.3(chr9:137590213-137817525)	SARDH, SEC16A +568 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238663	GRCh38/hg38 9q34.13-34.3(chr9:137590213-138052188)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 154569	GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	LOC130003026, LOC130003027 +530 more	Copy number gain	See cases	GPathogenic
Select item 1696834	NC_000009.12:g.132691768_133013020del	TSC1, AK8 +11 more	Deletion	Tuberous sclerosis 1	GPathogenic
Select item 853499	NM_000368.4(TSC1):c.-234-1616_-234-235del1382	GFI1B, MIR548AW +1 more	Deletion (genic upstream transcript variant)	Tuberous sclerosis 1 +1 more	GUncertain significance
Select item 1261847	NM_001377304.1(GFI1B):c.-20-48T>G	GFI1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2581469	NM_001377304.1(GFI1B):c.-16G>A	GFI1B	Single nucleotide variant (5 prime UTR 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 757351	NM_001377304.1(GFI1B):c.67G>A (p.Asp23Asn)	GFI1B (D23N)	Single nucleotide variant (missense variant)	not provided	GBenign
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 3099446	NM_001377304.1(GFI1B):c.98C>G (p.Pro33Arg)	GFI1B (P33R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3051494	NM_001377304.1(GFI1B):c.98C>T (p.Pro33Leu)	GFI1B (P33L)	Single nucleotide variant (missense variant)	not specified	GLikely 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 147626	GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3	ABCA2, ABO +510 more	Copy number gain	See cases	GPathogenic
Select item 1234115	NM_001377304.1(GFI1B):c.101-190G>A	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 1240764	NM_001377304.1(GFI1B):c.101-77A>C	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 3099441	NM_001377304.1(GFI1B):c.122G>A (p.Ser41Asn)	GFI1B (S41N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3281235	NM_001377304.1(GFI1B):c.145C>G (p.Leu49Val)	GFI1B (L49V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1336060	NM_001377304.1(GFI1B):c.148T>C (p.Phe50Leu)	GFI1B (F50L)	Single nucleotide variant (missense variant)	not specified	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 2366610	NM_001377304.1(GFI1B):c.179T>C (p.Leu60Pro)	GFI1B (L60P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 790269	NM_001377304.1(GFI1B):c.238+7C>T	GFI1B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1222838	NM_001377304.1(GFI1B):c.238+178G>C	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 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 1289097	NM_001377304.1(GFI1B):c.239-99A>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 1336041	NM_001377304.1(GFI1B):c.239-9T>A	GFI1B	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 716946	NM_001377304.1(GFI1B):c.242G>T (p.Gly81Val)	GFI1B (G81V)	Single nucleotide variant (missense variant)	not provided	GBenign
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 3281237	NM_001377304.1(GFI1B):c.287C>T (p.Ser96Phe)	GFI1B (S96F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 712063	NM_001377304.1(GFI1B):c.293C>T (p.Ser98Leu)	GFI1B (S98L)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 3281236	NM_001377304.1(GFI1B):c.341C>T (p.Thr114Ile)	GFI1B (T114I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2265948	NM_001377304.1(GFI1B):c.371C>G (p.Ser124Cys)	GFI1B (S124C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 709560	NM_001377304.1(GFI1B):c.414C>T (p.Tyr138=)	GFI1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3344667	NM_001377304.1(GFI1B):c.463C>T (p.Arg155Cys)	GFI1B (R155C)	Single nucleotide variant (missense variant)	GFI1B-related disorder	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 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 3251881	NM_001377304.1(GFI1B):c.503G>A (p.Cys168Tyr)	GFI1B (C168Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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	GPathogenic/Likely pathogenic
Select item 1239181	NM_001377304.1(GFI1B):c.511-271C>T	GFI1B	Single nucleotide variant (intron 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 1271680	NM_001377304.1(GFI1B):c.511-169G>A	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 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 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 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 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 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 3354808	NM_001377304.1(GFI1B):c.538G>T (p.Val180Leu)	GFI1B (V180L)	Single nucleotide variant (missense variant +1 more)	GFI1B-related disorder	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 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 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 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	GUncertain significance
Select item 417959	NM_001377304.1(GFI1B):c.568C>T (p.Arg190Trp)	GFI1B (R190W)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 17	GUncertain significance
Select item 788675	NM_001377304.1(GFI1B):c.576C>T (p.Phe192=)	GFI1B	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
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 627337	NM_001377304.1(GFI1B):c.581G>A (p.Cys194Tyr)	GFI1B (C194Y)	Single nucleotide variant (missense variant +1 more)	Thrombocytopenia +1 more	GUncertain significance
Select item 3051406	NM_001377304.1(GFI1B):c.591C>T (p.Cys197=)	GFI1B	Single nucleotide variant (intron variant +1 more)	GFI1B-related disorder	GLikely benign
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 720848	NM_001377304.1(GFI1B):c.609C>T (p.His203=)	GFI1B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 776457	NM_001377304.1(GFI1B):c.610G>A (p.Ala204Thr)	GFI1B (A204T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 710734	NM_001377304.1(GFI1B):c.624G>A (p.Glu208=)	GFI1B	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
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 1337036	NM_001377304.1(GFI1B):c.648+4G>T	GFI1B	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1244561	NM_001377304.1(GFI1B):c.649-270A>G	GFI1B	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 3030946	NM_001377304.1(GFI1B):c.676G>A (p.Gly226Ser)	GFI1B (G180S +2 more)	Single nucleotide variant (missense variant)	GFI1B-related disorder	GUncertain significance

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