ClinVar for Gene (Select 224) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336603	NM_000382.3(ALDH3A2):c.1198G>A (p.Gly400Arg)	ALDH3A2 (G207R +1 more)	Single nucleotide variant (missense variant)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 3336402	NM_000382.3(ALDH3A2):c.984G>C (p.Met328Ile)	ALDH3A2 (M135I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251510	NM_000382.3(ALDH3A2):c.234G>C (p.Trp78Cys)	ALDH3A2 (W78C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3251390	NM_000382.3(ALDH3A2):c.551C>G (p.Thr184Arg)	ALDH3A2 (T184R)	Single nucleotide variant (missense variant +1 more)	Sjögren-Larsson syndrome	GPathogenic
Select item 3243116	NC_000017.10:g.(?_19559882)_(19560846_?)del	ALDH3A2	Deletion	not provided	GLikely pathogenic
Select item 3239679	NM_000382.3(ALDH3A2):c.901del (p.Ala301fs)	ALDH3A2 (A108fs +1 more)	Deletion (frameshift variant)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 3233377	NM_000382.3(ALDH3A2):c.385+1G>C	ALDH3A2	Single nucleotide variant (splice donor variant)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 3109512	NM_000382.3(ALDH3A2):c.895A>G (p.Lys299Glu)	ALDH3A2 (K106E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3109500	NM_000382.3(ALDH3A2):c.659G>C (p.Cys220Ser)	ALDH3A2 (C27S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3109474	NM_000382.3(ALDH3A2):c.1226C>G (p.Ala409Gly)	ALDH3A2 (A409G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3109473	NM_000382.3(ALDH3A2):c.1221G>T (p.Met407Ile)	ALDH3A2 (M214I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3109471	NM_000382.3(ALDH3A2):c.1118G>A (p.Arg373Gln)	ALDH3A2 (R180Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3109467	NM_000382.3(ALDH3A2):c.1087G>A (p.Val363Ile)	ALDH3A2 (V170I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3068866	NM_000382.3(ALDH3A2):c.152A>G (p.Lys51Arg)	ALDH3A2 (K51R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3065983	NM_000382.3(ALDH3A2):c.1350G>A (p.Trp450Ter)	ALDH3A2 (W257* +1 more)	Single nucleotide variant (nonsense +1 more)	Sjögren-Larsson syndrome	GLikely pathogenic
Select item 3063517	GRCh37/hg19 17p12-11.2(chr17:15759103-20564268)x1	ADORA2B, AKAP10 +61 more	Copy number loss	not specified	GPathogenic
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3018413	NM_000382.3(ALDH3A2):c.471+18C>G	ALDH3A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3018305	NM_000382.3(ALDH3A2):c.1437T>C (p.Leu479=)	ALDH3A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3003681	NM_000382.3(ALDH3A2):c.630G>A (p.Gly210=)	ALDH3A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002998	NM_000382.3(ALDH3A2):c.1207+17C>T	ALDH3A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002476	NM_000382.3(ALDH3A2):c.37C>T (p.Leu13=)	ALDH3A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3000221	NM_000382.3(ALDH3A2):c.153+12T>C	ALDH3A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998385	NM_000382.3(ALDH3A2):c.1108-18C>T	ALDH3A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994854	NM_000382.3(ALDH3A2):c.472-19G>T	ALDH3A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991357	NM_000382.3(ALDH3A2):c.1317A>G (p.Arg439=)	ALDH3A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2990198	NM_000382.3(ALDH3A2):c.680+12T>G	ALDH3A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989866	NM_000382.3(ALDH3A2):c.564G>C (p.Ala188=)	ALDH3A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2989674	NM_000382.3(ALDH3A2):c.799-19C>T	ALDH3A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987064	NM_000382.3(ALDH3A2):c.888A>G (p.Glu296=)	ALDH3A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985844	NM_000382.3(ALDH3A2):c.681-19C>A	ALDH3A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981969	NM_000382.3(ALDH3A2):c.798+15del	ALDH3A2	Deletion (intron variant)	not provided	GLikely benign
Select item 2980725	NM_000382.3(ALDH3A2):c.1107+1G>T	ALDH3A2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2977871	NM_000382.3(ALDH3A2):c.681-13G>A	ALDH3A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974913	NM_000382.3(ALDH3A2):c.1208-16G>C	ALDH3A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972841	NM_000382.3(ALDH3A2):c.779del (p.Lys260fs)	ALDH3A2 (K67fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2959612	NM_000382.3(ALDH3A2):c.153+11G>A	ALDH3A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959159	NM_000382.3(ALDH3A2):c.680+12T>C	ALDH3A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958035	NM_000382.3(ALDH3A2):c.799-17_799-15del	ALDH3A2	Deletion (intron variant)	not provided	GLikely benign
Select item 2919966	NM_000382.3(ALDH3A2):c.1208-12C>T	ALDH3A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2919421	NM_000382.3(ALDH3A2):c.1443+11A>C	ALDH3A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2915378	NM_000382.3(ALDH3A2):c.798+16A>G	ALDH3A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2912501	NM_000382.3(ALDH3A2):c.799-16C>A	ALDH3A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2912100	NM_000382.3(ALDH3A2):c.153+20G>A	ALDH3A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2907880	NM_000382.3(ALDH3A2):c.1203A>C (p.Gly401=)	ALDH3A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2905284	NM_000382.3(ALDH3A2):c.940+11T>C	ALDH3A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2904049	NM_000382.3(ALDH3A2):c.472-20T>C	ALDH3A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2895803	NM_000382.3(ALDH3A2):c.386-13T>C	ALDH3A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2887142	NM_000382.3(ALDH3A2):c.1208-11C>G	ALDH3A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879656	NM_000382.3(ALDH3A2):c.147G>A (p.Leu49=)	ALDH3A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2878684	NM_000382.3(ALDH3A2):c.471+14G>T	ALDH3A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870114	NM_000382.3(ALDH3A2):c.96G>A (p.Arg32=)	ALDH3A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2867492	NM_000382.3(ALDH3A2):c.381T>C (p.Ala127=)	ALDH3A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2865658	NM_000382.3(ALDH3A2):c.1026G>A (p.Val342=)	ALDH3A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2865193	NM_001369146.2(ALDH3A2):c.1208-3837del	ALDH3A2	Deletion (intron variant)	not provided	GPathogenic
Select item 2862793	NM_000382.3(ALDH3A2):c.680+7C>T	ALDH3A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2860913	NM_000382.3(ALDH3A2):c.1103_1104insGG (p.His368fs)	ALDH3A2 (H175fs +1 more)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 2859498	NM_000382.3(ALDH3A2):c.69G>A (p.Arg23=)	ALDH3A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2859140	NM_000382.3(ALDH3A2):c.135C>T (p.Ile45=)	ALDH3A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2857705	NM_000382.3(ALDH3A2):c.15C>G (p.Val5=)	ALDH3A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2852258	NM_000382.3(ALDH3A2):c.858T>G (p.Arg286=)	ALDH3A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2846304	NM_000382.3(ALDH3A2):c.471+19A>G	ALDH3A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2845282	NM_000382.3(ALDH3A2):c.664C>T (p.Leu222=)	ALDH3A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2844865	NM_000382.3(ALDH3A2):c.93G>A (p.Arg31=)	ALDH3A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2843530	NM_000382.3(ALDH3A2):c.415C>T (p.Leu139=)	ALDH3A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2842899	NM_000382.3(ALDH3A2):c.882G>A (p.Leu294=)	ALDH3A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2840149	NM_000382.3(ALDH3A2):c.1208-16G>T	ALDH3A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2839291	NM_000382.3(ALDH3A2):c.1444-20T>C	ALDH3A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2835349	NM_000382.3(ALDH3A2):c.681-9del	ALDH3A2	Deletion (intron variant)	not provided	GBenign
Select item 2833675	NM_000382.3(ALDH3A2):c.1108-5_1108-3del	ALDH3A2	Deletion (intron variant)	not provided	GLikely benign
Select item 2832805	NM_000382.3(ALDH3A2):c.217G>C (p.Glu73Gln)	ALDH3A2 (E73Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2831404	NM_000382.3(ALDH3A2):c.1443+8C>G	ALDH3A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2828684	NM_000382.3(ALDH3A2):c.113_114insTCGC (p.Glu38fs)	ALDH3A2 (E38fs)	Insertion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2825533	NM_000382.3(ALDH3A2):c.1443+17C>T	ALDH3A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2825244	NM_000382.3(ALDH3A2):c.1103dup (p.His368fs)	ALDH3A2 (H175fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2824698	NM_000382.3(ALDH3A2):c.1302T>G (p.Gly434=)	ALDH3A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2823348	NM_000382.3(ALDH3A2):c.806A>G (p.Tyr269Cys)	ALDH3A2 (Y76C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2822252	NM_000382.3(ALDH3A2):c.1160_1207+66del	ALDH3A2	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 2819613	NM_000382.3(ALDH3A2):c.681-5del	ALDH3A2	Deletion (intron variant)	not provided	GBenign
Select item 2817578	NM_000382.3(ALDH3A2):c.1189_1190del (p.Phe397fs)	ALDH3A2 (F397fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2815704	NM_000382.3(ALDH3A2):c.696A>G (p.Gly232=)	ALDH3A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2811675	NM_000382.3(ALDH3A2):c.732C>G (p.Pro244=)	ALDH3A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2806319	NM_000382.3(ALDH3A2):c.771T>C (p.Ile257=)	ALDH3A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2805267	NM_000382.3(ALDH3A2):c.684C>T (p.Arg228=)	ALDH3A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2804339	NM_000382.3(ALDH3A2):c.411T>C (p.Ser137=)	ALDH3A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2803205	NM_000382.3(ALDH3A2):c.90G>A (p.Leu30=)	ALDH3A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2801976	NM_000382.3(ALDH3A2):c.154-14T>C	ALDH3A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2793259	NM_000382.3(ALDH3A2):c.1285del (p.Ser429fs)	ALDH3A2 (S236fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2789286	NM_000382.3(ALDH3A2):c.468C>T (p.Asp156=)	ALDH3A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2789241	NM_000382.3(ALDH3A2):c.386-14T>G	ALDH3A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2789042	NM_000382.3(ALDH3A2):c.1110C>G (p.Leu370=)	ALDH3A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2788899	NM_000382.3(ALDH3A2):c.1443+14A>G	ALDH3A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2786204	NM_000382.3(ALDH3A2):c.351C>T (p.Leu117=)	ALDH3A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2783205	NM_000382.3(ALDH3A2):c.915G>A (p.Glu305=)	ALDH3A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2780380	NM_000382.3(ALDH3A2):c.1349G>A (p.Trp450Ter)	ALDH3A2 (W450* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2770320	NM_000382.3(ALDH3A2):c.680+11C>T	ALDH3A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2764847	NM_000382.3(ALDH3A2):c.795G>T (p.Val265=)	ALDH3A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2764165	NM_000382.3(ALDH3A2):c.940+8A>G	ALDH3A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2757113	NM_000382.3(ALDH3A2):c.391dup (p.Ala131fs)	ALDH3A2 (A131fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2757024	NM_000382.3(ALDH3A2):c.1356dup (p.Phe453fs)	ALDH3A2 (F453fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic

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