ALDH18A1[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 712

<< First< Prev

Page of 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58776	GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1	LOC105378448, LOC107195252 +245 more	Copy number loss	See cases	GPathogenic
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 301743	NM_002860.3(ALDH18A1):c.*829C>T	ALDH18A1	Single nucleotide variant	Cutis laxa, recessive	GUncertain significance
Select item 301744	NM_002860.4(ALDH18A1):c.*803del	ALDH18A1	Deletion (3 prime UTR variant)	Cutis laxa, recessive	GUncertain significance
Select item 301745	NM_002860.4(ALDH18A1):c.*734C>A	ALDH18A1	Single nucleotide variant (3 prime UTR variant)	ALDH18A1-related de Barsy syndrome	GLikely benign
Select item 301746	NM_002860.4(ALDH18A1):c.*699C>T	ALDH18A1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 301747	NM_002860.4(ALDH18A1):c.*698G>A	ALDH18A1	Single nucleotide variant (3 prime UTR variant)	ALDH18A1-related de Barsy syndrome	GUncertain significance
Select item 879817	NM_002860.4(ALDH18A1):c.*644A>G	ALDH18A1	Single nucleotide variant (3 prime UTR variant)	ALDH18A1-related de Barsy syndrome	GUncertain significance
Select item 879818	NM_002860.4(ALDH18A1):c.*611G>A	ALDH18A1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 301748	NM_002860.4(ALDH18A1):c.*466T>G	ALDH18A1	Single nucleotide variant (3 prime UTR variant)	ALDH18A1-related de Barsy syndrome	GUncertain significance
Select item 59401	GRCh38/hg38 10q24.1(chr10:95606298-95966000)x1	C10orf131, CC2D2B +24 more	Copy number loss	See cases	GUncertain significance
Select item 301749	NM_002860.4(ALDH18A1):c.*412T>C	ALDH18A1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 879819	NM_002860.4(ALDH18A1):c.*293G>A	ALDH18A1	Single nucleotide variant (3 prime UTR variant)	ALDH18A1-related de Barsy syndrome	GUncertain significance
Select item 301750	NM_002860.4(ALDH18A1):c.*292C>T	ALDH18A1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 301751	NM_002860.4(ALDH18A1):c.*227A>G	ALDH18A1	Single nucleotide variant (3 prime UTR variant)	ALDH18A1-related de Barsy syndrome	GBenign
Select item 301752	NM_002860.4(ALDH18A1):c.*202T>C	ALDH18A1	Single nucleotide variant (3 prime UTR variant)	ALDH18A1-related de Barsy syndrome	GUncertain significance
Select item 301753	NM_002860.4(ALDH18A1):c.*155G>A	ALDH18A1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 301754	NM_002860.4(ALDH18A1):c.*140C>T	ALDH18A1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 301755	NM_002860.4(ALDH18A1):c.*56T>A	ALDH18A1	Single nucleotide variant (3 prime UTR variant)	ALDH18A1-related de Barsy syndrome +1 more	GBenign/Likely benign
Select item 1223686	NM_002860.4(ALDH18A1):c.*8C>T	ALDH18A1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 665168	NM_002860.4(ALDH18A1):c.2383A>G (p.Asn795Asp)	ALDH18A1 (N795D +5 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 9A +2 more	GUncertain significance
Select item 2417392	NM_002860.4(ALDH18A1):c.2370T>G (p.Pro790=)	ALDH18A1	Single nucleotide variant (synonymous variant)	Autosomal dominant spastic paraplegia type 9 +2 more	GLikely benign
Select item 511517	NM_002860.4(ALDH18A1):c.2361C>T (p.Leu787=)	ALDH18A1	Single nucleotide variant (synonymous variant)	Autosomal dominant spastic paraplegia type 9 +4 more	GLikely benign
Select item 2194047	NM_002860.4(ALDH18A1):c.2353G>A (p.Glu785Lys)	ALDH18A1 (E573K +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +2 more	GUncertain significance
Select item 16086	NM_002860.4(ALDH18A1):c.2350C>T (p.His784Tyr)	ALDH18A1 (H784Y +5 more)	Single nucleotide variant (missense variant)	ALDH18A1-related de Barsy syndrome	GPathogenic
Select item 382498	NM_002860.4(ALDH18A1):c.2345A>C (p.Tyr782Ser)	ALDH18A1 (Y782S +5 more)	Single nucleotide variant (missense variant)	Autosomal dominant spastic paraplegia type 9 +4 more	GConflicting classifications of pathogenicity
Select item 217273	NM_002860.4(ALDH18A1):c.2345A>G (p.Tyr782Cys)	ALDH18A1 (Y780C +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2920660	NM_002860.4(ALDH18A1):c.2344T>C (p.Tyr782His)	ALDH18A1 (Y570H +5 more)	Single nucleotide variant (missense variant)	ALDH18A1-related de Barsy syndrome	GLikely pathogenic
Select item 2184599	NM_002860.4(ALDH18A1):c.2339T>C (p.Leu780Ser)	ALDH18A1 (L780S +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +2 more	GUncertain significance
Select item 706379	NM_002860.4(ALDH18A1):c.2335A>G (p.Ser779Gly)	ALDH18A1 (S668G +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 2144136	NM_002860.4(ALDH18A1):c.2329C>A (p.His777Asn)	ALDH18A1 (H775N +5 more)	Single nucleotide variant (missense variant)	Autosomal dominant spastic paraplegia type 9 +2 more	GUncertain significance
Select item 1417490	NM_002860.4(ALDH18A1):c.2329C>T (p.His777Tyr)	ALDH18A1 (H565Y +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +2 more	GUncertain significance
Select item 1313870	NM_002860.4(ALDH18A1):c.2328G>C (p.Glu776Asp)	ALDH18A1 (E564D +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1048920	NM_002860.4(ALDH18A1):c.2308G>A (p.Val770Met)	ALDH18A1 (V558M +5 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2166789	NM_002860.4(ALDH18A1):c.2307C>T (p.His769=)	ALDH18A1	Single nucleotide variant (synonymous variant)	Autosomal dominant spastic paraplegia type 9 +2 more	GLikely benign
Select item 2640708	NM_002860.4(ALDH18A1):c.2298G>A (p.Gly766=)	ALDH18A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 216888	NM_002860.4(ALDH18A1):c.2294G>A (p.Arg765Gln)	ALDH18A1 (R765Q +5 more)	Single nucleotide variant (missense variant)	Abnormality of the nervous system +4 more	GConflicting classifications of pathogenicity
Select item 489087	NM_002860.4(ALDH18A1):c.2293C>T (p.Arg765Ter)	ALDH18A1 (R765* +5 more)	Single nucleotide variant (nonsense)	Cutis laxa, autosomal dominant 3 +3 more	GConflicting classifications of pathogenicity
Select item 2268832	NM_002860.4(ALDH18A1):c.2285G>A (p.Trp762Ter)	ALDH18A1 (W550* +5 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GUncertain significance
Select item 2672409	NM_002860.4(ALDH18A1):c.2283G>A (p.Lys761=)	ALDH18A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2923871	NM_002860.4(ALDH18A1):c.2279C>T (p.Thr760Ile)	ALDH18A1 (T548I +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +2 more	GUncertain significance
Select item 1898433	NM_002860.4(ALDH18A1):c.2278A>G (p.Thr760Ala)	ALDH18A1 (T725A +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2953290	NM_002860.4(ALDH18A1):c.2277T>C (p.Thr759=)	ALDH18A1	Single nucleotide variant (synonymous variant)	Cutis laxa, autosomal dominant 3 +2 more	GLikely benign
Select item 664573	NM_002860.4(ALDH18A1):c.2276C>T (p.Thr759Ile)	ALDH18A1 (T757I +5 more)	Single nucleotide variant (missense variant)	ALDH18A1-related disorder +3 more	GUncertain significance
Select item 1368457	NM_002860.4(ALDH18A1):c.2270T>G (p.Leu757Arg)	ALDH18A1 (L755R +5 more)	Single nucleotide variant (missense variant)	Autosomal dominant spastic paraplegia type 9 +2 more	GUncertain significance
Select item 2239819	NM_002860.4(ALDH18A1):c.2267G>A (p.Gly756Glu)	ALDH18A1 (G645E +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1434093	NM_002860.4(ALDH18A1):c.2260C>T (p.Leu754Phe)	ALDH18A1 (L641F +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +2 more	GUncertain significance
Select item 1371088	NM_002860.4(ALDH18A1):c.2257G>A (p.Gly753Arg)	ALDH18A1 (G753R +5 more)	Single nucleotide variant (missense variant)	Autosomal dominant spastic paraplegia type 9 +2 more	GUncertain significance
Select item 807367	NM_002860.4(ALDH18A1):c.2246G>A (p.Arg749Gln)	ALDH18A1 (R636Q +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1956698	NM_002860.4(ALDH18A1):c.2241C>T (p.His747=)	ALDH18A1	Single nucleotide variant (synonymous variant)	Cutis laxa, autosomal dominant 3 +2 more	GLikely benign
Select item 806551	NM_002860.4(ALDH18A1):c.2232G>C (p.Ser744=)	ALDH18A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 391463	NM_002860.4(ALDH18A1):c.2232G>A (p.Ser744=)	ALDH18A1	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 581547	NM_002860.4(ALDH18A1):c.2231C>T (p.Ser744Leu)	ALDH18A1 (S744L +5 more)	Single nucleotide variant (missense variant)	Autosomal dominant spastic paraplegia type 9 +2 more	GUncertain significance
Select item 522897	NM_002860.4(ALDH18A1):c.2231C>G (p.Ser744Trp)	ALDH18A1 (S744W +5 more)	Single nucleotide variant (missense variant)	Autosomal dominant spastic paraplegia type 9 +3 more	GConflicting classifications of pathogenicity
Select item 2940833	NM_002860.4(ALDH18A1):c.2230T>A (p.Ser744Thr)	ALDH18A1 (S532T +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +2 more	GUncertain significance
Select item 1446152	NM_002860.4(ALDH18A1):c.2225G>T (p.Ser742Ile)	ALDH18A1 (S629I +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +2 more	GUncertain significance
Select item 743159	NM_002860.4(ALDH18A1):c.2217G>A (p.Val739=)	ALDH18A1	Single nucleotide variant (synonymous variant)	Cutis laxa, autosomal dominant 3 +2 more	GLikely benign
Select item 301756	NM_002860.4(ALDH18A1):c.2207-3C>T	ALDH18A1	Single nucleotide variant (intron variant)	not specified +6 more	GBenign/Likely benign
Select item 2954286	NM_002860.4(ALDH18A1):c.2207-7_2207-6inv	ALDH18A1	Inversion (intron variant)	de Barsy syndrome +2 more	GUncertain significance
Select item 2038823	NM_002860.4(ALDH18A1):c.2207-14A>T	ALDH18A1	Single nucleotide variant (intron variant)	Cutis laxa, autosomal dominant 3 +2 more	GLikely benign
Select item 678446	NM_002860.4(ALDH18A1):c.2207-46G>A	ALDH18A1	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 1298271	NM_002860.4(ALDH18A1):c.2207-117A>C	ALDH18A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297355	NM_002860.4(ALDH18A1):c.2207-134T>C	ALDH18A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1531645	NM_002860.4(ALDH18A1):c.2206+17T>C	ALDH18A1	Single nucleotide variant (intron variant)	Autosomal dominant spastic paraplegia type 9 +2 more	GLikely benign
Select item 258825	NM_002860.4(ALDH18A1):c.2206+15G>A	ALDH18A1	Single nucleotide variant (intron variant)	not specified +7 more	GBenign
Select item 1945664	NM_002860.4(ALDH18A1):c.2201G>A (p.Gly734Glu)	ALDH18A1 (G734E +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +2 more	GUncertain significance
Select item 3108785	NM_002860.4(ALDH18A1):c.2200G>A (p.Gly734Arg)	ALDH18A1 (G623R +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 382497	NM_002860.4(ALDH18A1):c.2195G>A (p.Arg732His)	ALDH18A1 (R732H +5 more)	Single nucleotide variant (missense variant)	de Barsy syndrome +3 more	GUncertain significance
Select item 301757	NM_002860.4(ALDH18A1):c.2194C>T (p.Arg732Cys)	ALDH18A1 (R732C +5 more)	Single nucleotide variant (missense variant)	ALDH18A1-related de Barsy syndrome +4 more	GUncertain significance
Select item 2640709	NM_002860.4(ALDH18A1):c.2186A>G (p.Asp729Gly)	ALDH18A1 (D517G +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 981456	NM_002860.4(ALDH18A1):c.2186A>T (p.Asp729Val)	ALDH18A1 (D517V +5 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely pathogenic
Select item 1675427	NM_002860.4(ALDH18A1):c.2177G>T (p.Arg726Leu)	ALDH18A1 (R514L +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 689652	NM_002860.4(ALDH18A1):c.2177G>A (p.Arg726His)	ALDH18A1 (R514H +5 more)	Single nucleotide variant (missense variant)	de Barsy syndrome +5 more	GConflicting classifications of pathogenicity
Select item 1056056	NM_002860.4(ALDH18A1):c.2176C>T (p.Arg726Cys)	ALDH18A1 (R514C +5 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 392692	NM_002860.4(ALDH18A1):c.2160C>T (p.Phe720=)	ALDH18A1	Single nucleotide variant (synonymous variant)	Cutis laxa, autosomal dominant 3 +4 more	GConflicting classifications of pathogenicity
Select item 931997	NM_002860.4(ALDH18A1):c.2159T>C (p.Phe720Ser)	ALDH18A1 (F609S +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3	GUncertain significance
Select item 1977643	NM_002860.4(ALDH18A1):c.2149G>A (p.Ala717Thr)	ALDH18A1 (A505T +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +2 more	GUncertain significance
Select item 2953764	NM_002860.4(ALDH18A1):c.2148T>C (p.Ser716=)	ALDH18A1	Single nucleotide variant (synonymous variant)	de Barsy syndrome +2 more	GLikely benign
Select item 217115	NM_002860.4(ALDH18A1):c.2143G>C (p.Asp715His)	ALDH18A1 (D715H +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +2 more	GLikely pathogenic
Select item 862391	NM_002860.4(ALDH18A1):c.2140G>A (p.Val714Ile)	ALDH18A1 (V679I +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +3 more	GUncertain significance
Select item 1982440	NM_002860.4(ALDH18A1):c.2139C>T (p.His713=)	ALDH18A1	Single nucleotide variant (synonymous variant)	Cutis laxa, autosomal dominant 3 +2 more	GLikely benign
Select item 878042	NM_002860.4(ALDH18A1):c.2135A>G (p.Gln712Arg)	ALDH18A1 (Q677R +5 more)	Single nucleotide variant (missense variant)	ALDH18A1-related de Barsy syndrome +3 more	GUncertain significance
Select item 156546	NM_002860.4(ALDH18A1):c.2131del (p.Leu711fs)	ALDH18A1 (L676fs +5 more)	Deletion (frameshift variant)	ALDH18A1-related de Barsy syndrome	GPathogenic
Select item 1195236	NM_002860.4(ALDH18A1):c.2121G>A (p.Ala707=)	ALDH18A1	Single nucleotide variant (synonymous variant)	Autosomal dominant spastic paraplegia type 9 +3 more	GLikely benign
Select item 2035292	NM_002860.4(ALDH18A1):c.2117_2118del (p.Thr706fs)	ALDH18A1 (T671fs +5 more)	Microsatellite (frameshift variant)	Cutis laxa, autosomal dominant 3 +2 more	GPathogenic
Select item 1254768	NM_002860.4(ALDH18A1):c.2114A>G (p.Asn705Ser)	ALDH18A1 (N493S +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +3 more	GUncertain significance
Select item 2043858	NM_002860.4(ALDH18A1):c.2111-5T>C	ALDH18A1	Single nucleotide variant (intron variant)	Cutis laxa, autosomal dominant 3 +2 more	GLikely benign
Select item 513428	NM_002860.4(ALDH18A1):c.2111-7C>A	ALDH18A1	Single nucleotide variant (intron variant)	Autosomal dominant spastic paraplegia type 9 +3 more	GLikely benign
Select item 2923686	NM_002860.4(ALDH18A1):c.2111-12_2111-10del	ALDH18A1	Microsatellite (intron variant)	Cutis laxa, autosomal dominant 3 +2 more	GLikely benign
Select item 2056544	NM_002860.4(ALDH18A1):c.2111-14T>C	ALDH18A1	Single nucleotide variant (intron variant)	Cutis laxa, autosomal dominant 3 +2 more	GLikely benign
Select item 1262241	NM_002860.4(ALDH18A1):c.2111-148T>C	ALDH18A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234495	NM_002860.4(ALDH18A1):c.2111-194C>T	ALDH18A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683044	NM_002860.4(ALDH18A1):c.2111-282A>C	ALDH18A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233475	NM_002860.4(ALDH18A1):c.2110+170A>G	ALDH18A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242768	NM_002860.4(ALDH18A1):c.2110+71C>G	ALDH18A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678444	NM_002860.4(ALDH18A1):c.2110+24A>T	ALDH18A1	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 301758	NM_002860.4(ALDH18A1):c.2110+13A>G	ALDH18A1	Single nucleotide variant (intron variant)	de Barsy syndrome +4 more	GConflicting classifications of pathogenicity
Select item 3339856	NM_002860.4(ALDH18A1):c.2110+11A>G	ALDH18A1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2198579	NM_002860.4(ALDH18A1):c.2110+10C>T	ALDH18A1	Single nucleotide variant (intron variant)	Cutis laxa, autosomal dominant 3 +2 more	GLikely benign

<< First< Prev

Page of 8