229[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 144971	GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	LOC130002205, LOC130002206 +417 more	Copy number loss	See cases	GPathogenic
Select item 149230	GRCh38/hg38 9q22.33-31.3(chr9:99024205-109947890)x1	ABCA1, ABITRAM +253 more	Copy number loss	See cases	GPathogenic
Select item 161058	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	LOC126860732, LOC126860733 +514 more	Copy number loss	See cases	GPathogenic
Select item 32222	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	ABCA1, ABITRAM +514 more	Copy number loss	See cases	GPathogenic
Select item 59123	GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1	CT70, CTNNAL1 +509 more	Copy number loss	See cases	GPathogenic
Select item 364288	NM_000035.4(ALDOB):c.*1151A>G	ALDOB	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 913907	NM_000035.4(ALDOB):c.*1119C>T	ALDOB	Single nucleotide variant (3 prime UTR variant)	Hereditary fructosuria	GUncertain significance
Select item 364289	NM_000035.4(ALDOB):c.*1003A>G	ALDOB	Single nucleotide variant (3 prime UTR variant)	Hereditary fructosuria +1 more	GBenign
Select item 364290	NM_000035.4(ALDOB):c.*898T>C	ALDOB	Single nucleotide variant (3 prime UTR variant)	Hereditary fructosuria	GUncertain significance
Select item 364291	NM_000035.4(ALDOB):c.*897G>A	ALDOB	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 364292	NM_000035.4(ALDOB):c.*849T>C	ALDOB	Single nucleotide variant (3 prime UTR variant)	Hereditary fructosuria	GLikely benign
Select item 915154	NM_000035.4(ALDOB):c.*819A>C	ALDOB	Single nucleotide variant (3 prime UTR variant)	Hereditary fructosuria	GUncertain significance
Select item 364293	NM_000035.4(ALDOB):c.*802A>G	ALDOB	Single nucleotide variant (3 prime UTR variant)	Hereditary fructosuria	GUncertain significance
Select item 364294	NM_000035.4(ALDOB):c.*752C>G	ALDOB	Single nucleotide variant (3 prime UTR variant)	Hereditary fructosuria	GLikely benign
Select item 915155	NM_000035.4(ALDOB):c.*729G>C	ALDOB	Single nucleotide variant (3 prime UTR variant)	Hereditary fructosuria	GUncertain significance
Select item 364295	NM_000035.4(ALDOB):c.*714A>G	ALDOB	Single nucleotide variant (3 prime UTR variant)	Hereditary fructosuria	GUncertain significance
Select item 915156	NM_000035.4(ALDOB):c.*683T>C	ALDOB	Single nucleotide variant (3 prime UTR variant)	Hereditary fructosuria	GUncertain significance
Select item 364296	NM_000035.4(ALDOB):c.*612A>G	ALDOB	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 915157	NM_000035.4(ALDOB):c.*568G>A	ALDOB	Single nucleotide variant (3 prime UTR variant)	Hereditary fructosuria	GUncertain significance
Select item 364297	NM_000035.4(ALDOB):c.*567C>T	ALDOB	Single nucleotide variant (3 prime UTR variant)	Hereditary fructosuria	GLikely benign
Select item 364298	NM_000035.4(ALDOB):c.*552T>A	ALDOB	Single nucleotide variant (3 prime UTR variant)	Hereditary fructosuria +1 more	GBenign
Select item 1065874	NM_000035.4(ALDOB):c.*516T>A	ALDOB	Single nucleotide variant (3 prime UTR variant)	Hereditary fructosuria	GLikely pathogenic
Select item 3030740	NM_000035.4(ALDOB):c.*513G>A	ALDOB	Single nucleotide variant (3 prime UTR variant)	ALDOB-related disorder	GLikely benign
Select item 364299	NM_000035.4(ALDOB):c.*505C>A	ALDOB	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 912447	NM_000035.4(ALDOB):c.*503T>C	ALDOB	Single nucleotide variant (3 prime UTR variant)	Hereditary fructosuria	GUncertain significance
Select item 364300	NM_000035.4(ALDOB):c.*289C>G	ALDOB	Single nucleotide variant (3 prime UTR variant)	Hereditary fructosuria	GUncertain significance
Select item 364301	NM_000035.4(ALDOB):c.*286C>T	ALDOB	Single nucleotide variant (3 prime UTR variant)	Hereditary fructosuria	GUncertain significance
Select item 364302	NM_000035.4(ALDOB):c.*268T>C	ALDOB	Single nucleotide variant (3 prime UTR variant)	Hereditary fructosuria	GUncertain significance
Select item 912448	NM_000035.4(ALDOB):c.*209C>T	ALDOB	Single nucleotide variant (3 prime UTR variant)	Hereditary fructosuria	GUncertain significance
Select item 364303	NM_000035.4(ALDOB):c.*206C>A	ALDOB	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 913564	NM_000035.4(ALDOB):c.*189C>T	ALDOB	Single nucleotide variant (3 prime UTR variant)	Hereditary fructosuria	GBenign
Select item 913565	NM_000035.4(ALDOB):c.*152A>G	ALDOB	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 364304	NM_000035.4(ALDOB):c.*150del	ALDOB	Deletion (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 913566	NM_000035.4(ALDOB):c.*145A>G	ALDOB	Single nucleotide variant (3 prime UTR variant)	Hereditary fructosuria	GUncertain significance
Select item 364305	NM_000035.4(ALDOB):c.*122G>A	ALDOB	Single nucleotide variant (3 prime UTR variant)	Hereditary fructosuria +1 more	GBenign
Select item 364306	NM_000035.4(ALDOB):c.*69C>T	ALDOB	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 913567	NM_000035.4(ALDOB):c.*26C>T	ALDOB	Single nucleotide variant (3 prime UTR variant)	Hereditary fructosuria	GUncertain significance
Select item 383019	NM_000035.4(ALDOB):c.*19C>T	ALDOB	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 364307	NM_000035.4(ALDOB):c.*12C>T	ALDOB	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 550776	NM_000035.4(ALDOB):c.1095G>C (p.Ter365Tyr)	ALDOB	Single nucleotide variant (stop lost)	ALDOB-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2756344	NM_000035.4(ALDOB):c.1089C>G (p.Thr363=)	ALDOB	Single nucleotide variant (synonymous variant)	Hereditary fructosuria	GLikely benign
Select item 3002771	NM_000035.4(ALDOB):c.1071C>A (p.Leu357=)	ALDOB	Single nucleotide variant (synonymous variant)	Hereditary fructosuria	GLikely benign
Select item 1080070	NM_000035.4(ALDOB):c.1068G>A (p.Ser356=)	ALDOB	Single nucleotide variant (synonymous variant)	Hereditary fructosuria	GLikely benign
Select item 1155403	NM_000035.4(ALDOB):c.1065G>A (p.Gln355=)	ALDOB	Single nucleotide variant (synonymous variant)	Hereditary fructosuria	GLikely benign
Select item 550867	NM_000035.4(ALDOB):c.1063C>T (p.Gln355Ter)	ALDOB (Q355*)	Single nucleotide variant (nonsense)	Hereditary fructosuria	GUncertain significance
Select item 3000626	NM_000035.4(ALDOB):c.1062C>T (p.Thr354=)	ALDOB	Single nucleotide variant (synonymous variant)	Hereditary fructosuria	GLikely benign
Select item 1161673	NM_000035.4(ALDOB):c.1062C>G (p.Thr354=)	ALDOB	Single nucleotide variant (synonymous variant)	Hereditary fructosuria	GLikely benign
Select item 2004164	NM_000035.4(ALDOB):c.1059C>T (p.Ser353=)	ALDOB	Single nucleotide variant (synonymous variant)	Hereditary fructosuria	GLikely benign
Select item 1065873	NM_000035.4(ALDOB):c.1044_1049delinsACACT (p.Ser349fs)	ALDOB (S349fs)	Indel (frameshift variant)	Hereditary fructosuria	GLikely pathogenic
Select item 2712068	NM_000035.4(ALDOB):c.1047T>C (p.Ser349=)	ALDOB	Single nucleotide variant (synonymous variant)	Hereditary fructosuria	GLikely benign
Select item 1101738	NM_000035.4(ALDOB):c.1044T>C (p.Ser348=)	ALDOB	Single nucleotide variant (synonymous variant)	Hereditary fructosuria	GLikely benign
Select item 2990614	NM_000035.4(ALDOB):c.1038G>T (p.Thr346=)	ALDOB	Single nucleotide variant (synonymous variant)	Hereditary fructosuria	GLikely benign
Select item 2914228	NM_000035.4(ALDOB):c.1038G>A (p.Thr346=)	ALDOB	Single nucleotide variant (synonymous variant)	Hereditary fructosuria	GLikely benign
Select item 763169	NM_000035.4(ALDOB):c.1035C>T (p.His345=)	ALDOB	Single nucleotide variant (synonymous variant)	Hereditary fructosuria	GLikely benign
Select item 3355301	NM_000035.4(ALDOB):c.1033C>T (p.His345Tyr)	ALDOB (H345Y)	Single nucleotide variant (missense variant)	ALDOB-related disorder	GUncertain significance
Select item 2283831	NM_000035.4(ALDOB):c.1030G>A (p.Val344Ile)	ALDOB (V344I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 30980	NM_000035.4(ALDOB):c.1027T>C (p.Tyr343His)	ALDOB (Y343H)	Single nucleotide variant (missense variant)	Hereditary fructosuria +1 more	GUncertain significance
Select item 1097415	NM_000035.4(ALDOB):c.1026G>A (p.Gln342=)	ALDOB	Single nucleotide variant (synonymous variant)	Hereditary fructosuria	GLikely benign
Select item 593824	NM_000035.4(ALDOB):c.1014G>A (p.Ala338=)	ALDOB	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 188739	NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val)	ALDOB (A338V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 754589	NM_000035.4(ALDOB):c.1011G>A (p.Gln337=)	ALDOB	Single nucleotide variant (synonymous variant)	Hereditary fructosuria	GLikely benign
Select item 2739775	NM_000035.4(ALDOB):c.1007_1008delinsT (p.Cys336fs)	ALDOB (C336fs)	Indel (frameshift variant)	Hereditary fructosuria	GLikely pathogenic
Select item 2018891	NM_000035.4(ALDOB):c.1008C>T (p.Cys336=)	ALDOB	Single nucleotide variant (synonymous variant)	Hereditary fructosuria	GLikely benign
Select item 1065872	NM_000035.4(ALDOB):c.1000-1_1006delinsTG	ALDOB	Indel (splice acceptor variant)	Hereditary fructosuria	GPathogenic
Select item 469	NM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys)	ALDOB (N335K)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 507888	NM_000035.4(ALDOB):c.1000-3T>C	ALDOB	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2817554	NM_000035.4(ALDOB):c.1000-6T>C	ALDOB	Single nucleotide variant (intron variant)	Hereditary fructosuria	GLikely benign
Select item 2981920	NM_000035.4(ALDOB):c.1000-12T>C	ALDOB	Single nucleotide variant (intron variant)	Hereditary fructosuria	GLikely benign
Select item 2977476	NM_000035.4(ALDOB):c.1000-13A>G	ALDOB	Single nucleotide variant (intron variant)	Hereditary fructosuria	GLikely benign
Select item 2860210	NM_000035.4(ALDOB):c.1000-14T>C	ALDOB	Single nucleotide variant (intron variant)	Hereditary fructosuria	GLikely benign
Select item 2739444	NM_000035.4(ALDOB):c.1000-17T>C	ALDOB	Single nucleotide variant (intron variant)	Hereditary fructosuria	GLikely benign
Select item 3007583	NM_000035.4(ALDOB):c.1000-20C>G	ALDOB	Single nucleotide variant (intron variant)	Hereditary fructosuria	GLikely benign
Select item 1235917	NM_000035.4(ALDOB):c.999+105G>A	ALDOB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231126	NM_000035.4(ALDOB):c.999+84T>C	ALDOB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2911122	NM_000035.4(ALDOB):c.999+18C>T	ALDOB	Single nucleotide variant (intron variant)	Hereditary fructosuria	GLikely benign
Select item 2776427	NM_000035.4(ALDOB):c.999+14A>G	ALDOB	Single nucleotide variant (intron variant)	Hereditary fructosuria	GLikely benign
Select item 2898965	NM_000035.4(ALDOB):c.999+12C>A	ALDOB	Single nucleotide variant (intron variant)	Hereditary fructosuria	GLikely benign
Select item 2802579	NM_000035.4(ALDOB):c.999+10T>A	ALDOB	Single nucleotide variant (intron variant)	Hereditary fructosuria	GLikely benign
Select item 2155571	NM_000035.4(ALDOB):c.999+10T>C	ALDOB	Single nucleotide variant (intron variant)	Hereditary fructosuria	GLikely benign
Select item 2094555	NM_000035.4(ALDOB):c.999+2T>C	ALDOB	Single nucleotide variant (splice donor variant)	Hereditary fructosuria	GPathogenic
Select item 1112949	NM_000035.4(ALDOB):c.996C>T (p.Ala332=)	ALDOB	Single nucleotide variant (synonymous variant)	Hereditary fructosuria	GLikely benign
Select item 1065868	NM_000035.4(ALDOB):c.954_995del (p.Ala319_Ala332del)	ALDOB	Deletion (inframe_deletion)	Hereditary fructosuria	GLikely pathogenic
Select item 596452	NM_000035.4(ALDOB):c.992G>A (p.Arg331Gln)	ALDOB (R331Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 594385	NM_000035.4(ALDOB):c.991C>T (p.Arg331Trp)	ALDOB (R331W)	Single nucleotide variant (missense variant)	Hereditary fructosuria +1 more	GUncertain significance
Select item 2008203	NM_000035.4(ALDOB):c.972C>G (p.Thr324=)	ALDOB	Single nucleotide variant (synonymous variant)	Hereditary fructosuria	GLikely benign
Select item 1646495	NM_000035.4(ALDOB):c.972C>T (p.Thr324=)	ALDOB	Single nucleotide variant (synonymous variant)	Hereditary fructosuria	GLikely benign
Select item 1195961	NM_000035.4(ALDOB):c.971C>T (p.Thr324Ile)	ALDOB (T324I)	Single nucleotide variant (missense variant)	Hereditary fructosuria	GUncertain significance
Select item 509313	NM_000035.4(ALDOB):c.966G>A (p.Glu322=)	ALDOB	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign

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