ClinVar for Gene (Select 229) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 539

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3063058	GRCh37/hg19 9q31.1-31.2(chr9:102606857-109839724)x1	ABCA1, ALDOB +34 more	Copy number loss	not specified	GPathogenic
Select item 3030897	NM_000035.4(ALDOB):c.112+5G>A	ALDOB	Single nucleotide variant (intron variant)	ALDOB-related condition	GUncertain significance
Select item 3030740	NM_000035.4(ALDOB):c.*513G>A	ALDOB	Single nucleotide variant (3 prime UTR variant)	ALDOB-related condition	GLikely benign
Select item 3023575	NM_000035.4(ALDOB):c.114T>A (p.Gly38=)	ALDOB	Single nucleotide variant (synonymous variant)	Hereditary fructosuria	GLikely benign
Select item 3019235	NM_000035.4(ALDOB):c.113-13C>T	ALDOB	Single nucleotide variant (intron variant)	Hereditary fructosuria	GLikely benign
Select item 3018163	NM_000035.4(ALDOB):c.112+17G>A	ALDOB	Single nucleotide variant (intron variant)	Hereditary fructosuria	GLikely benign
Select item 3015574	NM_000035.4(ALDOB):c.799+17T>C	ALDOB	Single nucleotide variant (intron variant)	Hereditary fructosuria	GLikely benign
Select item 3015173	NM_000035.4(ALDOB):c.540+19G>A	ALDOB	Single nucleotide variant (intron variant)	Hereditary fructosuria	GLikely benign
Select item 3009998	NM_000035.4(ALDOB):c.735T>C (p.Thr245=)	ALDOB	Single nucleotide variant (synonymous variant)	Hereditary fructosuria	GLikely benign
Select item 3007835	NM_000035.4(ALDOB):c.279G>C (p.Leu93=)	ALDOB	Single nucleotide variant (synonymous 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 3002771	NM_000035.4(ALDOB):c.1071C>A (p.Leu357=)	ALDOB	Single nucleotide variant (synonymous variant)	Hereditary fructosuria	GLikely benign
Select item 3000626	NM_000035.4(ALDOB):c.1062C>T (p.Thr354=)	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 2981920	NM_000035.4(ALDOB):c.1000-12T>C	ALDOB	Single nucleotide variant (intron variant)	Hereditary fructosuria	GLikely benign
Select item 2978919	NM_000035.4(ALDOB):c.799+16T>C	ALDOB	Single nucleotide variant (intron variant)	Hereditary fructosuria	GLikely benign
Select item 2978658	NM_000035.4(ALDOB):c.60C>T (p.Ala20=)	ALDOB	Single nucleotide variant (synonymous 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 2974656	NM_000035.4(ALDOB):c.800-12C>T	ALDOB	Single nucleotide variant (intron variant)	Hereditary fructosuria	GLikely benign
Select item 2964157	NM_000035.4(ALDOB):c.165C>T (p.Asn55=)	ALDOB	Single nucleotide variant (synonymous variant)	Hereditary fructosuria	GLikely benign
Select item 2962041	NM_000035.4(ALDOB):c.112+9A>G	ALDOB	Single nucleotide variant (intron variant)	Hereditary fructosuria	GLikely benign
Select item 2958446	NM_000035.4(ALDOB):c.402C>T (p.Arg134=)	ALDOB	Single nucleotide variant (synonymous variant)	Hereditary fructosuria	GLikely benign
Select item 2919984	NM_000035.4(ALDOB):c.927T>C (p.Ser309=)	ALDOB	Single nucleotide variant (synonymous variant)	Hereditary fructosuria	GLikely benign
Select item 2916289	NM_000035.4(ALDOB):c.113-17T>C	ALDOB	Single nucleotide variant (intron variant)	Hereditary fructosuria	GLikely benign
Select item 2914980	NM_000035.4(ALDOB):c.799+20C>G	ALDOB	Single nucleotide variant (intron variant)	Hereditary fructosuria	GLikely benign
Select item 2914674	NM_000035.4(ALDOB):c.800-15C>T	ALDOB	Single nucleotide variant (intron 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 2913377	NM_000035.4(ALDOB):c.114T>C (p.Gly38=)	ALDOB	Single nucleotide variant (synonymous variant)	Hereditary fructosuria	GLikely benign
Select item 2911122	NM_000035.4(ALDOB):c.999+18C>T	ALDOB	Single nucleotide variant (intron variant)	Hereditary fructosuria	GLikely benign
Select item 2910539	NM_000035.4(ALDOB):c.540+15C>T	ALDOB	Single nucleotide variant (intron variant)	Hereditary fructosuria	GLikely benign
Select item 2906905	NM_000035.4(ALDOB):c.741A>G (p.Glu247=)	ALDOB	Single nucleotide variant (synonymous variant)	Hereditary fructosuria	GLikely benign
Select item 2903199	NM_000035.4(ALDOB):c.546A>G (p.Gly182=)	ALDOB	Single nucleotide variant (synonymous 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 2897631	NM_000035.4(ALDOB):c.325-15T>C	ALDOB	Single nucleotide variant (intron variant)	Hereditary fructosuria	GLikely benign
Select item 2895924	NM_000035.4(ALDOB):c.625-15C>T	ALDOB	Single nucleotide variant (intron variant)	Hereditary fructosuria	GLikely benign
Select item 2890757	NM_000035.4(ALDOB):c.800-11T>C	ALDOB	Single nucleotide variant (intron variant)	Hereditary fructosuria	GLikely benign
Select item 2889637	NM_000035.4(ALDOB):c.606C>T (p.Cys202=)	ALDOB	Single nucleotide variant (synonymous variant)	Hereditary fructosuria +1 more	GLikely benign
Select item 2885782	NM_000035.4(ALDOB):c.324+20C>G	ALDOB	Single nucleotide variant (intron variant)	Hereditary fructosuria	GLikely benign
Select item 2882661	NM_000035.4(ALDOB):c.540+16C>T	ALDOB	Single nucleotide variant (intron variant)	Hereditary fructosuria	GLikely benign
Select item 2879497	NM_000035.4(ALDOB):c.921G>A (p.Gln307=)	ALDOB	Single nucleotide variant (synonymous variant)	Hereditary fructosuria +1 more	GLikely benign
Select item 2878771	NM_000035.4(ALDOB):c.112+17G>T	ALDOB	Single nucleotide variant (intron variant)	Hereditary fructosuria	GLikely benign
Select item 2878673	NM_000035.4(ALDOB):c.379+14C>G	ALDOB	Single nucleotide variant (intron variant)	Hereditary fructosuria	GLikely benign
Select item 2875823	NM_000035.4(ALDOB):c.687A>C (p.Leu229=)	ALDOB	Single nucleotide variant (synonymous variant)	Hereditary fructosuria	GLikely benign
Select item 2874806	NM_000035.4(ALDOB):c.510C>T (p.Ala170=)	ALDOB	Single nucleotide variant (synonymous variant)	Hereditary fructosuria	GLikely benign
Select item 2873022	NM_000035.4(ALDOB):c.675G>A (p.Glu225=)	ALDOB	Single nucleotide variant (synonymous variant)	Hereditary fructosuria	GLikely benign
Select item 2872116	NM_000035.4(ALDOB):c.799+7C>T	ALDOB	Single nucleotide variant (intron variant)	Hereditary fructosuria	GLikely benign
Select item 2867787	NM_000035.4(ALDOB):c.540+11T>C	ALDOB	Single nucleotide variant (intron variant)	Hereditary fructosuria	GLikely benign
Select item 2865925	NM_000035.4(ALDOB):c.870C>T (p.Cys290=)	ALDOB	Single nucleotide variant (synonymous variant)	Hereditary fructosuria	GLikely benign
Select item 2865373	NM_000035.4(ALDOB):c.931C>T (p.Leu311=)	ALDOB	Single nucleotide variant (synonymous variant)	Hereditary fructosuria	GLikely benign
Select item 2865227	NM_000035.4(ALDOB):c.87G>A (p.Gly29=)	ALDOB	Single nucleotide variant (synonymous variant)	Hereditary fructosuria	GLikely benign
Select item 2864033	NM_000035.4(ALDOB):c.271G>T (p.Gly91Ter)	ALDOB (G91*)	Single nucleotide variant (nonsense)	Hereditary fructosuria	GPathogenic
Select item 2863008	NM_000035.4(ALDOB):c.324+18C>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 2854555	NM_000035.4(ALDOB):c.1A>T (p.Met1Leu)	ALDOB (M1L)	Single nucleotide variant (missense variant +1 more)	Hereditary fructosuria	GLikely pathogenic
Select item 2854124	NM_000035.4(ALDOB):c.645G>A (p.Lys215=)	ALDOB	Single nucleotide variant (synonymous variant)	Hereditary fructosuria	GLikely benign
Select item 2853159	NM_000035.4(ALDOB):c.414C>A (p.Tyr138Ter)	ALDOB (Y138*)	Single nucleotide variant (nonsense)	Hereditary fructosuria	GPathogenic
Select item 2848318	NM_000035.4(ALDOB):c.380-9G>T	ALDOB	Single nucleotide variant (intron variant)	Hereditary fructosuria	GLikely benign
Select item 2840468	NM_000035.4(ALDOB):c.625-20T>A	ALDOB	Single nucleotide variant (intron variant)	Hereditary fructosuria	GLikely benign
Select item 2839503	NM_000035.4(ALDOB):c.628C>T (p.Leu210=)	ALDOB	Single nucleotide variant (synonymous variant)	Hereditary fructosuria	GLikely benign
Select item 2829917	NM_000035.4(ALDOB):c.800-13T>G	ALDOB	Single nucleotide variant (intron variant)	Hereditary fructosuria	GLikely benign
Select item 2824160	NM_000035.4(ALDOB):c.379+18T>C	ALDOB	Single nucleotide variant (intron variant)	Hereditary fructosuria	GLikely benign
Select item 2822724	NM_000035.4(ALDOB):c.112+12A>G	ALDOB	Single nucleotide variant (intron variant)	Hereditary fructosuria	GLikely benign
Select item 2817554	NM_000035.4(ALDOB):c.1000-6T>C	ALDOB	Single nucleotide variant (intron variant)	Hereditary fructosuria	GLikely benign
Select item 2815182	NM_000035.4(ALDOB):c.252C>T (p.Leu84=)	ALDOB	Single nucleotide variant (synonymous variant)	Hereditary fructosuria	GLikely benign
Select item 2813315	NM_000035.4(ALDOB):c.933G>T (p.Leu311=)	ALDOB	Single nucleotide variant (synonymous variant)	Hereditary fructosuria	GLikely benign
Select item 2806687	NM_000035.4(ALDOB):c.113-7A>G	ALDOB	Single nucleotide variant (intron variant)	Hereditary fructosuria	GLikely benign
Select item 2804486	NM_000035.4(ALDOB):c.800-10C>T	ALDOB	Single nucleotide variant (intron variant)	Hereditary fructosuria	GLikely benign
Select item 2803797	NM_000035.4(ALDOB):c.438G>C (p.Gly146=)	ALDOB	Single nucleotide variant (synonymous variant)	Hereditary fructosuria	GLikely benign
Select item 2803105	NM_000035.4(ALDOB):c.294C>T (p.Leu98=)	ALDOB	Single nucleotide variant (synonymous 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 2800512	NM_000035.4(ALDOB):c.129C>T (p.Arg43=)	ALDOB	Single nucleotide variant (synonymous variant)	Hereditary fructosuria	GLikely benign
Select item 2800353	NM_000035.4(ALDOB):c.324+16C>T	ALDOB	Single nucleotide variant (intron variant)	Hereditary fructosuria	GLikely benign
Select item 2781225	NM_000035.4(ALDOB):c.624+19G>A	ALDOB	Single nucleotide variant (intron variant)	Hereditary fructosuria	GLikely benign
Select item 2780795	NM_000035.4(ALDOB):c.450T>A (p.Ala150=)	ALDOB	Single nucleotide variant (synonymous 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 2775413	NM_000035.4(ALDOB):c.37A>C (p.Lys13Gln)	ALDOB (K13Q)	Single nucleotide variant (missense variant)	Hereditary fructosuria	GUncertain significance
Select item 2770112	NM_000035.4(ALDOB):c.687A>G (p.Leu229=)	ALDOB	Single nucleotide variant (synonymous variant)	Hereditary fructosuria	GLikely benign
Select item 2766436	NM_000035.4(ALDOB):c.625-9_625-7dup	ALDOB	Duplication (intron variant)	Hereditary fructosuria	GLikely benign
Select item 2762309	NM_000035.4(ALDOB):c.380-17T>C	ALDOB	Single nucleotide variant (intron variant)	Hereditary fructosuria	GLikely benign
Select item 2758683	NM_000035.4(ALDOB):c.235del (p.Leu79fs)	ALDOB (L79fs)	Deletion (frameshift variant)	Hereditary fructosuria	GPathogenic
Select item 2758169	NM_000035.4(ALDOB):c.624+20G>C	ALDOB	Single nucleotide variant (intron variant)	Hereditary fructosuria	GLikely benign
Select item 2757760	NM_000035.4(ALDOB):c.858T>G (p.Ala286=)	ALDOB	Single nucleotide variant (synonymous variant)	Hereditary fructosuria	GLikely benign
Select item 2756344	NM_000035.4(ALDOB):c.1089C>G (p.Thr363=)	ALDOB	Single nucleotide variant (synonymous variant)	Hereditary fructosuria	GLikely benign
Select item 2754156	NM_000035.4(ALDOB):c.112+20T>A	ALDOB	Single nucleotide variant (intron 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 2739444	NM_000035.4(ALDOB):c.1000-17T>C	ALDOB	Single nucleotide variant (intron variant)	Hereditary fructosuria	GLikely benign
Select item 2737586	NM_000035.4(ALDOB):c.799+19T>A	ALDOB	Single nucleotide variant (intron variant)	Hereditary fructosuria	GLikely benign
Select item 2731353	NM_000035.4(ALDOB):c.380-19T>C	ALDOB	Single nucleotide variant (intron variant)	Hereditary fructosuria	GLikely benign
Select item 2728287	NM_000035.4(ALDOB):c.732T>C (p.Tyr244=)	ALDOB	Single nucleotide variant (synonymous variant)	Hereditary fructosuria	GLikely benign
Select item 2712068	NM_000035.4(ALDOB):c.1047T>C (p.Ser349=)	ALDOB	Single nucleotide variant (synonymous variant)	Hereditary fructosuria	GLikely benign
Select item 2709256	NM_000035.4(ALDOB):c.325-9T>C	ALDOB	Single nucleotide variant (intron variant)	Hereditary fructosuria	GLikely benign
Select item 2707586	NM_000035.4(ALDOB):c.136del (p.Arg46fs)	ALDOB (R46fs)	Deletion (frameshift variant)	Hereditary fructosuria	GPathogenic
Select item 2704235	NM_000035.4(ALDOB):c.800-12C>A	ALDOB	Single nucleotide variant (intron variant)	Hereditary fructosuria	GLikely benign
Select item 2698018	NM_000035.4(ALDOB):c.828T>C (p.Ser276=)	ALDOB	Single nucleotide variant (synonymous variant)	Hereditary fructosuria	GLikely benign
Select item 2694379	NM_000035.4(ALDOB):c.162G>A (p.Glu54=)	ALDOB	Single nucleotide variant (synonymous variant)	Hereditary fructosuria	GLikely benign
Select item 2675545	NM_000035.4(ALDOB):c.799+2T>C	ALDOB	Single nucleotide variant (splice donor variant)	Hereditary fructosuria	GLikely pathogenic
Select item 2675516	NM_000035.4(ALDOB):c.541-2A>G	ALDOB	Single nucleotide variant (splice acceptor variant)	Hereditary fructosuria	GLikely pathogenic
Select item 2675507	NM_000035.4(ALDOB):c.624+1G>A	ALDOB	Single nucleotide variant (splice donor variant)	Hereditary fructosuria	GLikely pathogenic
Select item 2675500	NM_000035.4(ALDOB):c.606C>A (p.Cys202Ter)	ALDOB (C202*)	Single nucleotide variant (nonsense)	Hereditary fructosuria	GLikely pathogenic

<< First< Prev

Page of 6