"GeneDx"[submitter] AND "ALDH18A1"[gene] - ClinVar - NCBI

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	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 59401	GRCh38/hg38 10q24.1(chr10:95606298-95966000)x1	C10orf131, CC2D2B +24 more	Copy number loss	See cases	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 301753	NM_002860.4(ALDH18A1):c.*155G>A	ALDH18A1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
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 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 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 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 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)	Autosomal dominant spastic paraplegia type 9 +3 more	GUncertain significance
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 391463	NM_002860.4(ALDH18A1):c.2232G>A (p.Ser744=)	ALDH18A1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +5 more	GConflicting classifications of pathogenicity
Select item 301756	NM_002860.4(ALDH18A1):c.2207-3C>T	ALDH18A1	Single nucleotide variant (intron variant)	ALDH18A1-related de Barsy syndrome +6 more	GBenign/Likely 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 258825	NM_002860.4(ALDH18A1):c.2206+15G>A	ALDH18A1	Single nucleotide variant (intron variant)	ALDH18A1-related de Barsy syndrome +7 more	GBenign
Select item 3108785	NM_002860.4(ALDH18A1):c.2200G>A (p.Gly734Arg)	ALDH18A1 (G623R +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 382497	NM_002860.4(ALDH18A1):c.2195G>A (p.Arg732His)	ALDH18A1 (R732H +5 more)	Single nucleotide variant (missense variant)	not provided +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 689652	NM_002860.4(ALDH18A1):c.2177G>A (p.Arg726His)	ALDH18A1 (R514H +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +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)	Autosomal dominant spastic paraplegia type 9 +3 more	GUncertain significance
Select item 392692	NM_002860.4(ALDH18A1):c.2160C>T (p.Phe720=)	ALDH18A1	Single nucleotide variant (synonymous variant)	ALDH18A1-related de Barsy syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1195236	NM_002860.4(ALDH18A1):c.2121G>A (p.Ala707=)	ALDH18A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1254768	NM_002860.4(ALDH18A1):c.2114A>G (p.Asn705Ser)	ALDH18A1 (N493S +5 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
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 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)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 985106	NM_002860.4(ALDH18A1):c.2110G>A (p.Glu704Lys)	ALDH18A1 (E492K +5 more)	Single nucleotide variant (missense variant)	ALDH18A1-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 392416	NM_002860.4(ALDH18A1):c.2098G>T (p.Val700Phe)	ALDH18A1 (V700F +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +3 more	GUncertain significance
Select item 430001	NM_002860.4(ALDH18A1):c.2095A>G (p.Ile699Val)	ALDH18A1 (I699V +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364134	NM_002860.4(ALDH18A1):c.2092G>A (p.Val698Ile)	ALDH18A1 (V486I +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806654	NM_002860.4(ALDH18A1):c.2081C>T (p.Ser694Phe)	ALDH18A1 (S482F +5 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1301011	NM_002860.4(ALDH18A1):c.2054T>C (p.Ile685Thr)	ALDH18A1 (I473T +5 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2581729	NM_002860.4(ALDH18A1):c.2041G>A (p.Val681Ile)	ALDH18A1 (V469I +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 681497	NM_002860.4(ALDH18A1):c.2040C>T (p.Asn680=)	ALDH18A1	Single nucleotide variant (synonymous variant)	Cutis laxa, autosomal dominant 3 +3 more	GLikely benign
Select item 1695612	NM_002860.4(ALDH18A1):c.2030T>C (p.Val677Ala)	ALDH18A1 (V465A +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 423774	NM_002860.4(ALDH18A1):c.2011C>G (p.Leu671Val)	ALDH18A1 (L671V +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 301760	NM_002860.4(ALDH18A1):c.2001G>A (p.Glu667=)	ALDH18A1	Single nucleotide variant (synonymous variant)	ALDH18A1-related de Barsy syndrome +4 more	GBenign
Select item 3252995	NM_002860.4(ALDH18A1):c.1994G>A (p.Arg665Gln)	ALDH18A1 (R453Q +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3378274	NM_002860.4(ALDH18A1):c.1990C>G (p.Leu664Val)	ALDH18A1 (L452V +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 301761	NM_002860.4(ALDH18A1):c.1977C>T (p.Ser659=)	ALDH18A1	Single nucleotide variant (synonymous variant)	ALDH18A1-related de Barsy syndrome +6 more	GBenign
Select item 1205401	NM_002860.4(ALDH18A1):c.1960C>T (p.Leu654=)	ALDH18A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 377209	NM_002860.4(ALDH18A1):c.1946A>G (p.Lys649Arg)	ALDH18A1 (K649R +5 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1261775	NM_002860.4(ALDH18A1):c.1924-118T>C	ALDH18A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297266	NM_002860.4(ALDH18A1):c.1924-128G>C	ALDH18A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206935	NM_002860.4(ALDH18A1):c.1924-234C>G	ALDH18A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683043	NM_002860.4(ALDH18A1):c.1923+305_1923+306insT	ALDH18A1, LOC121815958	Insertion (intron variant)	not provided	GBenign
Select item 683040	NM_002860.4(ALDH18A1):c.1923+303_1923+304insCG	ALDH18A1, LOC121815958	Insertion (intron variant)	not provided	GBenign
Select item 683039	NM_002860.4(ALDH18A1):c.1923+302_1923+303insTC	ALDH18A1, LOC121815958	Insertion (intron variant)	not provided	GBenign
Select item 683038	NM_002860.4(ALDH18A1):c.1923+299A>T	ALDH18A1, LOC121815958	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678712	NM_002860.4(ALDH18A1):c.1923+68_1923+80del	ALDH18A1	Deletion (intron variant)	not provided	GBenign
Select item 2185308	NM_002860.4(ALDH18A1):c.1915G>A (p.Val639Met)	ALDH18A1 (V528M +5 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1693358	NM_002860.4(ALDH18A1):c.1907T>C (p.Met636Thr)	ALDH18A1 (M424T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252964	NM_002860.4(ALDH18A1):c.1864C>T (p.Arg622Trp)	ALDH18A1 (R410W +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311607	NM_002860.4(ALDH18A1):c.1848G>C (p.Glu616Asp)	ALDH18A1 (E404D +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370693	NM_002860.4(ALDH18A1):c.1819G>A (p.Glu607Lys)	ALDH18A1 (E395K +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313673	NM_002860.4(ALDH18A1):c.1797G>C (p.Arg599Ser)	ALDH18A1 (R387S +5 more)	Single nucleotide variant (missense variant)	Autosomal dominant spastic paraplegia type 9 +3 more	GUncertain significance
Select item 301762	NM_002860.4(ALDH18A1):c.1770C>T (p.Ser590=)	ALDH18A1	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign
Select item 2446703	NM_002860.4(ALDH18A1):c.1760A>G (p.Tyr587Cys)	ALDH18A1 (Y375C +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 879506	NM_002860.4(ALDH18A1):c.1740C>G (p.Ser580Arg)	ALDH18A1 (S469R +5 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 9A +5 more	GUncertain significance
Select item 426402	NM_002860.4(ALDH18A1):c.1732G>C (p.Gly578Arg)	ALDH18A1 (G578R +5 more)	Single nucleotide variant (missense variant)	Autosomal dominant spastic paraplegia type 9 +3 more	GUncertain significance
Select item 3343493	NM_002860.4(ALDH18A1):c.1658A>C (p.Asp553Ala)	ALDH18A1 (D341A +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1723855	NM_002860.4(ALDH18A1):c.1640G>A (p.Arg547His)	ALDH18A1 (R335H +5 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1704914	NM_002860.4(ALDH18A1):c.1639C>T (p.Arg547Cys)	ALDH18A1 (R335C +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 392760	NM_002860.4(ALDH18A1):c.1636T>C (p.Cys546Arg)	ALDH18A1 (C546R +5 more)	Single nucleotide variant (missense variant)	de Barsy syndrome +3 more	GUncertain significance
Select item 713650	NM_002860.4(ALDH18A1):c.1635T>C (p.Leu545=)	ALDH18A1	Single nucleotide variant (synonymous variant)	Cutis laxa, autosomal dominant 3 +3 more	GLikely benign
Select item 1200228	NM_002860.4(ALDH18A1):c.1631A>G (p.Asp544Gly)	ALDH18A1 (D332G +5 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 716005	NM_002860.4(ALDH18A1):c.1624G>A (p.Val542Ile)	ALDH18A1 (V431I +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +3 more	GLikely benign
Select item 422953	NM_002860.4(ALDH18A1):c.1619AAG[1] (p.Glu541del)	ALDH18A1 (E541del +5 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1802071	NM_002860.4(ALDH18A1):c.1606G>A (p.Val536Met)	ALDH18A1 (V324M +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 511462	NM_002860.4(ALDH18A1):c.1606-18del	ALDH18A1	Deletion (intron variant)	Autosomal dominant spastic paraplegia type 9 +3 more	GBenign/Likely benign
Select item 678443	NM_002860.4(ALDH18A1):c.1606-48T>G	ALDH18A1	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 1216018	NM_002860.4(ALDH18A1):c.1605+203C>T	ALDH18A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230894	NM_002860.4(ALDH18A1):c.1605+138T>A	ALDH18A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678711	NM_002860.4(ALDH18A1):c.1605+120C>G	ALDH18A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234810	NM_002860.4(ALDH18A1):c.1605+119C>T	ALDH18A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679383	NM_002860.4(ALDH18A1):c.1605+111T>C	ALDH18A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 301764	NM_002860.4(ALDH18A1):c.1605+5G>A	ALDH18A1	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 392417	NM_002860.4(ALDH18A1):c.1598T>G (p.Val533Gly)	ALDH18A1 (V533G +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +3 more	GUncertain significance
Select item 301765	NM_002860.4(ALDH18A1):c.1596C>T (p.Ala532=)	ALDH18A1	Single nucleotide variant (synonymous variant)	ALDH18A1-related de Barsy syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1326668	NM_002860.4(ALDH18A1):c.1582G>A (p.Gly528Arg)	ALDH18A1 (G316R +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1978138	NM_002860.4(ALDH18A1):c.1541G>A (p.Arg514Gln)	ALDH18A1 (R403Q +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +3 more	GUncertain significance
Select item 1029649	NM_002860.4(ALDH18A1):c.1540C>T (p.Arg514Trp)	ALDH18A1 (R302W +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +4 more	GUncertain significance
Select item 669717	NM_002860.4(ALDH18A1):c.1467+290C>A	ALDH18A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220365	NM_002860.4(ALDH18A1):c.1467+245C>T	ALDH18A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1297345	NM_002860.4(ALDH18A1):c.1467+126C>T	ALDH18A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183350	NM_002860.4(ALDH18A1):c.1467+109A>G	ALDH18A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200247	NM_002860.4(ALDH18A1):c.1467+82dup	ALDH18A1	Duplication (intron variant)	not provided	GLikely benign
Select item 1182492	NM_002860.4(ALDH18A1):c.1467+86T>C	ALDH18A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 514473	NM_002860.4(ALDH18A1):c.1467+15C>T	ALDH18A1	Single nucleotide variant (intron variant)	Autosomal dominant spastic paraplegia type 9 +4 more	GConflicting classifications of pathogenicity
Select item 1309065	NM_002860.4(ALDH18A1):c.1418T>C (p.Ile473Thr)	ALDH18A1 (I261T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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