2203[geneid] - 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 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 59118	GRCh38/hg38 9q22.31-22.33(chr9:91596533-97018746)x1	AOPEP, ASPN +268 more	Copy number loss	See cases	GPathogenic
Select item 59902	GRCh38/hg38 9q22.31-22.33(chr9:92561720-98122580)x3	LOC132089736, LOC132089737 +313 more	Copy number gain	See cases	GPathogenic
Select item 149008	GRCh38/hg38 9q22.31-22.32(chr9:93574616-95115422)x4	AOPEP, BARX1 +76 more	Copy number gain	See cases	GUncertain significance
Select item 367554	NM_000507.4(FBP1):c.*248del	FBP1	Deletion (3 prime UTR variant)	Fructose-biphosphatase deficiency +1 more	GBenign/Likely benign
Select item 913846	NM_000507.4(FBP1):c.*152C>T	FBP1	Single nucleotide variant (3 prime UTR variant)	Fructose-biphosphatase deficiency	GUncertain significance
Select item 913847	NM_000507.4(FBP1):c.*127C>T	FBP1	Single nucleotide variant (3 prime UTR variant)	Fructose-biphosphatase deficiency	GUncertain significance
Select item 913848	NM_000507.4(FBP1):c.*121T>G	FBP1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 256318	NM_000507.4(FBP1):c.*21C>T	FBP1	Single nucleotide variant (3 prime UTR variant)	Fructose-biphosphatase deficiency +2 more	GBenign
Select item 3350642	NM_000507.4(FBP1):c.*9C>A	FBP1	Single nucleotide variant (3 prime UTR variant)	FBP1-related disorder	GLikely benign
Select item 384873	NM_000507.4(FBP1):c.*4C>T	FBP1	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 2153994	NM_000507.4(FBP1):c.1012del (p.Gln338fs)	FBP1 (Q338fs)	Deletion (frameshift variant)	Fructose-biphosphatase deficiency	GUncertain significance
Select item 2234792	NM_000507.4(FBP1):c.1009G>T (p.Ala337Ser)	FBP1 (A337S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2865811	NM_000507.4(FBP1):c.1008T>C (p.Ser336=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 976589	NM_000507.4(FBP1):c.997G>A (p.Glu333Lys)	FBP1 (E333K)	Single nucleotide variant (missense variant)	Fructose-biphosphatase deficiency	GUncertain significance
Select item 1685318	NM_000507.4(FBP1):c.986T>C (p.Leu329Pro)	FBP1 (L329P)	Single nucleotide variant (missense variant)	Fructose-biphosphatase deficiency	GPathogenic/Likely pathogenic
Select item 1482254	NM_000507.4(FBP1):c.985C>A (p.Leu329Met)	FBP1 (L329M)	Single nucleotide variant (missense variant)	Fructose-biphosphatase deficiency	GUncertain significance
Select item 2832053	NM_000507.4(FBP1):c.984C>T (p.Phe328=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2991076	NM_000507.4(FBP1):c.981G>A (p.Glu327=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 1950138	NM_000507.4(FBP1):c.978C>G (p.Leu326=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 739375	NM_000507.4(FBP1):c.978C>T (p.Leu326=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 658878	NM_000507.4(FBP1):c.977T>C (p.Leu326Pro)	FBP1 (L326P)	Single nucleotide variant (missense variant)	Fructose-biphosphatase deficiency	GUncertain significance
Select item 214361	NM_000507.4(FBP1):c.976C>G (p.Leu326Val)	FBP1 (L326V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2995308	NM_000507.4(FBP1):c.972C>T (p.Asp324=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 859120	NM_000507.4(FBP1):c.971A>G (p.Asp324Gly)	FBP1 (D324G)	Single nucleotide variant (missense variant)	Fructose-biphosphatase deficiency	GUncertain significance
Select item 214368	NM_000507.4(FBP1):c.970G>A (p.Asp324Asn)	FBP1 (D324N)	Single nucleotide variant (missense variant)	Fructose-biphosphatase deficiency +2 more	GUncertain significance
Select item 2725139	NM_000507.4(FBP1):c.969C>T (p.Asp323=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 3017109	NM_000507.4(FBP1):c.966C>T (p.Pro322=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 548499	NM_000507.4(FBP1):c.966del (p.Asp323fs)	FBP1 (D323fs)	Deletion (frameshift variant)	Fructose-biphosphatase deficiency	GConflicting classifications of pathogenicity
Select item 3339475	NM_000507.4(FBP1):c.962C>T (p.Ser321Phe)	FBP1 (S321F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2809502	NM_000507.4(FBP1):c.961dup (p.Ser321fs)	FBP1 (S321fs)	Duplication (frameshift variant)	Fructose-biphosphatase deficiency	GPathogenic
Select item 867	NM_000507.4(FBP1):c.960_961insG (p.Ser321fs)	FBP1 (S321fs)	Insertion (frameshift variant)	Fructose-biphosphatase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 2797845	NM_000507.4(FBP1):c.960del (p.Ser321fs)	FBP1 (S321fs)	Deletion (frameshift variant)	Fructose-biphosphatase deficiency	GPathogenic
Select item 2037935	NM_000507.4(FBP1):c.959_960delinsTG (p.Gly320Val)	FBP1 (G320V)	Indel (missense variant)	Fructose-biphosphatase deficiency	GUncertain significance
Select item 372364	NM_000507.4(FBP1):c.960delinsGG (p.Ser321fs)	FBP1 (S321fs)	Indel (frameshift variant)	not provided +1 more	GPathogenic
Select item 256326	NM_000507.4(FBP1):c.960A>G (p.Gly320=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency +2 more	GBenign
Select item 2964207	NM_000507.4(FBP1):c.957G>A (p.Leu319=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2771135	NM_000507.4(FBP1):c.951G>T (p.Val317=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2731759	NM_000507.4(FBP1):c.948G>A (p.Pro316=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 3015064	NM_000507.4(FBP1):c.945G>A (p.Ala315=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 1962572	NM_000507.4(FBP1):c.926C>A (p.Thr309Lys)	FBP1 (T309K)	Single nucleotide variant (missense variant)	Fructose-biphosphatase deficiency	GUncertain significance
Select item 575402	NM_000507.4(FBP1):c.916G>A (p.Val306Ile)	FBP1 (V306I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 513962	NM_000507.4(FBP1):c.915C>T (p.Asp305=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency +2 more	GLikely benign
Select item 377876	NM_000507.4(FBP1):c.906C>T (p.Ala302=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2741015	NM_000507.4(FBP1):c.903G>A (p.Glu301=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2727438	NM_000507.4(FBP1):c.900G>A (p.Lys300=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 3020034	NM_000507.4(FBP1):c.894T>C (p.Thr298=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 367555	NM_000507.4(FBP1):c.889A>G (p.Thr297Ala)	FBP1 (T297A)	Single nucleotide variant (missense variant)	Fructose-biphosphatase deficiency	GUncertain significance
Select item 2573433	NM_000507.4(FBP1):c.881G>T (p.Gly294Val)	FBP1 (G294V)	Single nucleotide variant (missense variant)	Fructose-biphosphatase deficiency	GLikely pathogenic
Select item 1803969	NM_000507.4(FBP1):c.881G>A (p.Gly294Glu)	FBP1 (G294E)	Single nucleotide variant (missense variant)	Fructose-biphosphatase deficiency	GPathogenic
Select item 422511	NM_000507.4(FBP1):c.880G>A (p.Gly294Arg)	FBP1 (G294R)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 214360	NM_000507.4(FBP1):c.865A>T (p.Met289Leu)	FBP1 (M289L)	Single nucleotide variant (missense variant)	Fructose-biphosphatase deficiency +2 more	GBenign/Likely benign
Select item 2828070	NM_000507.4(FBP1):c.860_863dup (p.Met289fs)	FBP1 (M289fs)	Duplication (frameshift variant)	Fructose-biphosphatase deficiency	GPathogenic
Select item 2834375	NM_000507.4(FBP1):c.861C>T (p.Tyr287=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 872	NM_000507.4(FBP1):c.851C>G (p.Pro284Arg)	FBP1 (P284R)	Single nucleotide variant (missense variant)	Fructose-biphosphatase deficiency	GPathogenic
Select item 2893258	NM_000507.4(FBP1):c.849C>T (p.Asn283=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2809283	NM_000507.4(FBP1):c.846C>T (p.Cys282=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2758463	NM_000507.4(FBP1):c.846C>A (p.Cys282Ter)	FBP1 (C282*)	Single nucleotide variant (nonsense)	Fructose-biphosphatase deficiency	GPathogenic
Select item 548480	NM_000507.4(FBP1):c.841G>T (p.Glu281Ter)	FBP1 (E281*)	Single nucleotide variant (nonsense)	Fructose-biphosphatase deficiency	GPathogenic
Select item 381580	NM_000507.4(FBP1):c.841G>A (p.Glu281Lys)	FBP1 (E281K)	Single nucleotide variant (missense variant)	Fructose-biphosphatase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 281396	NM_000507.4(FBP1):c.840C>T (p.Tyr280=)	FBP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2742367	NM_000507.4(FBP1):c.837G>A (p.Leu279=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 912389	NM_000507.4(FBP1):c.835C>T (p.Leu279=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GConflicting classifications of pathogenicity
Select item 912390	NM_000507.4(FBP1):c.826-7T>C	FBP1	Single nucleotide variant (intron variant)	Fructose-biphosphatase deficiency	GConflicting classifications of pathogenicity
Select item 137367	NM_000507.4(FBP1):c.826-9G>C	FBP1	Single nucleotide variant (intron variant)	Fructose-biphosphatase deficiency +1 more	GBenign/Likely benign
Select item 2694826	NM_000507.4(FBP1):c.826-12C>T	FBP1	Single nucleotide variant (intron variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 377875	NM_000507.4(FBP1):c.826-15G>T	FBP1	Single nucleotide variant (intron variant)	Fructose-biphosphatase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 137366	NM_000507.4(FBP1):c.826-15G>A	FBP1	Single nucleotide variant (intron variant)	Fructose-biphosphatase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2733112	NM_000507.4(FBP1):c.826-16C>T	FBP1	Single nucleotide variant (intron variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 3018404	NM_000507.4(FBP1):c.826-17C>A	FBP1	Single nucleotide variant (intron variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 1203745	NM_000507.4(FBP1):c.826-22G>A	FBP1	Single nucleotide variant (intron variant)	Fructose-biphosphatase deficiency +1 more	GBenign/Likely benign
Select item 1229072	NM_000507.4(FBP1):c.826-131C>T	FBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1343842	NM_000507.4(FBP1):c.825+96G>A	FBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 506334	NM_000507.4(FBP1):c.825+14C>G	FBP1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2723412	NM_000507.4(FBP1):c.825+11C>T	FBP1	Single nucleotide variant (intron variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2974008	NM_000507.4(FBP1):c.825+7G>T	FBP1	Single nucleotide variant (intron variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 403706	NM_000507.4(FBP1):c.825+1G>A	FBP1	Single nucleotide variant (splice donor variant)	Fructose-biphosphatase deficiency	GPathogenic
Select item 1557878	NM_000507.4(FBP1):c.818A>G (p.Asn273Ser)	FBP1 (N273S)	Single nucleotide variant (missense variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2837314	NM_000507.4(FBP1):c.801T>C (p.Ala267=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 1004332	NM_000507.4(FBP1):c.799G>A (p.Ala267Thr)	FBP1 (A267T)	Single nucleotide variant (missense variant)	Fructose-biphosphatase deficiency	GUncertain significance
Select item 515760	NM_000507.4(FBP1):c.798C>T (p.Pro266=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency +1 more	GBenign/Likely benign
Select item 3093416	NM_000507.4(FBP1):c.794A>G (p.Tyr265Cys)	FBP1 (Y265C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 526506	NM_000507.4(FBP1):c.779del (p.Gly260fs)	FBP1 (G260fs)	Deletion (frameshift variant)	Fructose-biphosphatase deficiency	GPathogenic
Select item 561989	NM_000507.4(FBP1):c.778G>A (p.Gly260Arg)	FBP1 (G260R)	Single nucleotide variant (missense variant)	Fructose-biphosphatase deficiency	GPathogenic/Likely pathogenic
Select item 727587	NM_000507.4(FBP1):c.777C>T (p.Tyr259=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 912391	NM_000507.4(FBP1):c.764G>T (p.Arg255Leu)	FBP1 (R255L)	Single nucleotide variant (missense variant)	Fructose-biphosphatase deficiency	GUncertain significance
Select item 1524187	NM_000507.4(FBP1):c.763C>T (p.Arg255Cys)	FBP1 (R255C)	Single nucleotide variant (missense variant)	Fructose-biphosphatase deficiency	GUncertain significance
Select item 2699901	NM_000507.4(FBP1):c.762T>C (p.His254=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 1103325	NM_000507.4(FBP1):c.745A>C (p.Met249Leu)	FBP1 (M249L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

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