ALDH1L1[gene] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 more	Copy number loss	See cases	GPathogenic
Select item 155628	GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1	ADCY5, ADPRH +326 more	Copy number loss	See cases	GPathogenic
Select item 152210	GRCh38/hg38 3q13.33-21.3(chr3:121925147-126782249)x1	LOC129937447, LOC129937448 +214 more	Copy number loss	See cases	GPathogenic
Select item 2220787	NM_012190.4(ALDH1L1):c.2627A>G (p.Lys876Arg)	ALDH1L1, ALDH1L1-AS1 (K886R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473739	NM_012190.4(ALDH1L1):c.2608G>A (p.Ala870Thr)	ALDH1L1, ALDH1L1-AS1 (A870T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109194	NM_012190.4(ALDH1L1):c.2585C>T (p.Thr862Met)	ALDH1L1, ALDH1L1-AS1 (T862M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 784021	NM_012190.4(ALDH1L1):c.2503G>T (p.Ala835Ser)	ALDH1L1, ALDH1L1-AS1 (A845S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2397380	NM_012190.4(ALDH1L1):c.2467G>A (p.Val823Met)	ALDH1L1, ALDH1L1-AS1 (V722M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 713087	NM_012190.4(ALDH1L1):c.2453+6G>A	ALDH1L1, ALDH1L1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3109187	NM_012190.4(ALDH1L1):c.2449G>A (p.Asp817Asn)	ALDH1L1, ALDH1L1-AS1 (D716N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550319	NM_012190.4(ALDH1L1):c.2341C>T (p.Arg781Trp)	ALDH1L1 (R781W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 780408	NM_012190.4(ALDH1L1):c.2334G>A (p.Gln778=)	ALDH1L1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2368062	NM_012190.4(ALDH1L1):c.2311A>G (p.Thr771Ala)	ALDH1L1 (T771A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376099	NM_012190.4(ALDH1L1):c.2195G>A (p.Arg732Gln)	ALDH1L1 (R631Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109179	NM_012190.4(ALDH1L1):c.2156T>C (p.Ile719Thr)	ALDH1L1 (I618T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109175	NM_012190.4(ALDH1L1):c.2105A>T (p.Asn702Ile)	ALDH1L1 (N601I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289520	NM_012190.4(ALDH1L1):c.2044A>G (p.Ile682Val)	ALDH1L1 (I692V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109171	NM_012190.4(ALDH1L1):c.1999G>A (p.Val667Met)	ALDH1L1 (V667M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523447	NM_012190.4(ALDH1L1):c.1990A>G (p.Ile664Val)	ALDH1L1 (I563V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283506	NM_012190.4(ALDH1L1):c.1846G>C (p.Ala616Pro)	ALDH1L1 (A515P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109167	NM_012190.4(ALDH1L1):c.1792C>A (p.Pro598Thr)	ALDH1L1 (P598T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350534	NM_012190.4(ALDH1L1):c.1786A>C (p.Ile596Leu)	ALDH1L1 (I606L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283516	NM_012190.4(ALDH1L1):c.1780G>A (p.Val594Met)	ALDH1L1 (V493M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393410	NM_012190.4(ALDH1L1):c.1750A>G (p.Thr584Ala)	ALDH1L1 (T483A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297144	NM_012190.4(ALDH1L1):c.1739T>C (p.Leu580Pro)	ALDH1L1 (L590P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518757	NM_012190.4(ALDH1L1):c.1592G>A (p.Arg531His)	ALDH1L1 (R430H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617967	NM_012190.4(ALDH1L1):c.1586C>A (p.Thr529Asn)	ALDH1L1 (T529N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288300	NM_012190.4(ALDH1L1):c.1586C>T (p.Thr529Ile)	ALDH1L1 (T428I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206175	NM_012190.4(ALDH1L1):c.1460G>A (p.Arg487Gln)	ALDH1L1 (R497Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540043	NM_012190.4(ALDH1L1):c.1456G>T (p.Gly486Cys)	ALDH1L1 (G486C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367556	NM_012190.4(ALDH1L1):c.1444G>A (p.Ala482Thr)	ALDH1L1 (A492T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597565	NM_012190.4(ALDH1L1):c.1426C>T (p.Arg476Trp)	ALDH1L1 (R375W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 722832	NM_012190.4(ALDH1L1):c.1335C>T (p.Thr445=)	ALDH1L1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2207231	NM_012190.4(ALDH1L1):c.1321A>G (p.Thr441Ala)	ALDH1L1 (T441A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279540	NM_012190.4(ALDH1L1):c.1318G>A (p.Glu440Lys)	ALDH1L1 (E440K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508015	NM_012190.4(ALDH1L1):c.1280G>C (p.Gly427Ala)	ALDH1L1 (G437A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379332	NM_012190.4(ALDH1L1):c.1256G>T (p.Arg419Leu)	ALDH1L1 (R419L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109135	NM_012190.4(ALDH1L1):c.1250C>T (p.Thr417Ile)	ALDH1L1 (T427I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109132	NM_012190.4(ALDH1L1):c.1246C>T (p.Arg416Cys)	ALDH1L1 (R416C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109129	NM_012190.4(ALDH1L1):c.1234G>T (p.Ala412Ser)	ALDH1L1 (A311S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 775905	NM_012190.4(ALDH1L1):c.1225G>A (p.Val409Met)	ALDH1L1 (V308M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3109128	NM_012190.4(ALDH1L1):c.1207G>A (p.Glu403Lys)	ALDH1L1 (E302K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283495	NM_012190.4(ALDH1L1):c.1203G>T (p.Glu401Asp)	ALDH1L1 (E411D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 727614	NM_012190.4(ALDH1L1):c.1192G>C (p.Asp398His)	ALDH1L1 (D398H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2246524	NM_012190.4(ALDH1L1):c.1187G>A (p.Arg396Gln)	ALDH1L1 (R396Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 775906	NM_012190.4(ALDH1L1):c.1152T>C (p.Phe384=)	ALDH1L1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2468722	NM_012190.4(ALDH1L1):c.1106A>T (p.Asp369Val)	ALDH1L1 (D268V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109116	NM_012190.4(ALDH1L1):c.1064T>G (p.Val355Gly)	ALDH1L1 (V254G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250099	NM_012190.4(ALDH1L1):c.1031C>T (p.Ser344Phe)	ALDH1L1 (S243F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208644	NM_012190.4(ALDH1L1):c.1019A>G (p.Glu340Gly)	ALDH1L1 (E239G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361013	NM_012190.4(ALDH1L1):c.879G>T (p.Gln293His)	ALDH1L1 (Q192H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542758	NM_012190.4(ALDH1L1):c.815T>A (p.Val272Asp)	ALDH1L1 (V171D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109250	NM_012190.4(ALDH1L1):c.779C>A (p.Ala260Asp)	ALDH1L1 (A159D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526138	NM_012190.4(ALDH1L1):c.778G>A (p.Ala260Thr)	ALDH1L1 (A159T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 711884	NM_012190.4(ALDH1L1):c.729A>G (p.Thr243=)	ALDH1L1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2613357	NM_012190.4(ALDH1L1):c.658A>G (p.Ile220Val)	ALDH1L1 (I220V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 728734	NM_012190.4(ALDH1L1):c.631-5C>T	ALDH1L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2587962	NM_012190.4(ALDH1L1):c.596C>T (p.Thr199Ile)	ALDH1L1 (T199I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2252384	NM_012190.4(ALDH1L1):c.542G>C (p.Arg181Thr)	ALDH1L1 (R191T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2538459	NM_012190.4(ALDH1L1):c.529G>A (p.Val177Met)	ALDH1L1 (V177M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 623452	NM_012190.4(ALDH1L1):c.520A>G (p.Lys174Glu)	ALDH1L1 (K174E +1 more)	Single nucleotide variant (missense variant +2 more)	High myopia	GUncertain significance
Select item 2225616	NM_012190.4(ALDH1L1):c.515G>A (p.Gly172Asp)	ALDH1L1 (G172D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 795917	NM_012190.4(ALDH1L1):c.477C>T (p.Thr159=)	ALDH1L1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3283538	NM_012190.4(ALDH1L1):c.467C>G (p.Pro156Arg)	ALDH1L1 (P156R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2221686	NM_012190.4(ALDH1L1):c.451G>A (p.Glu151Lys)	ALDH1L1 (E151K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 733685	NM_012190.4(ALDH1L1):c.441G>T (p.Leu147=)	ALDH1L1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2654092	NM_012190.4(ALDH1L1):c.429C>A (p.Thr143=)	ALDH1L1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3109219	NM_012190.4(ALDH1L1):c.415G>A (p.Asp139Asn)	ALDH1L1 (D149N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2242238	NM_012190.4(ALDH1L1):c.409G>A (p.Ala137Thr)	ALDH1L1 (A147T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2274033	NM_012190.4(ALDH1L1):c.350C>T (p.Ser117Leu)	ALDH1L1 (S117L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326719	NM_012190.4(ALDH1L1):c.344G>A (p.Gly115Glu)	ALDH1L1 (G115E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299961	NM_012190.4(ALDH1L1):c.296G>A (p.Arg99Gln)	ALDH1L1 (R109Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3283550	NM_012190.4(ALDH1L1):c.254T>C (p.Phe85Ser)	ALDH1L1 (F85S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 734456	NM_012190.4(ALDH1L1):c.234C>T (p.Ala78=)	ALDH1L1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2461629	NM_012190.4(ALDH1L1):c.178C>T (p.Arg60Cys)	ALDH1L1 (R60C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508376	NM_012190.4(ALDH1L1):c.172C>T (p.Arg58Trp)	ALDH1L1 (R68W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554900	NM_012190.4(ALDH1L1):c.144G>T (p.Lys48Asn)	ALDH1L1 (K48N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 790543	NM_012190.4(ALDH1L1):c.128-9G>A	ALDH1L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3283527	NM_012190.4(ALDH1L1):c.106G>A (p.Asp36Asn)	ALDH1L1 (D46N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 784601	NM_012190.4(ALDH1L1):c.68G>A (p.Gly23Asp)	ALDH1L1 (G23D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2387920	NM_012190.4(ALDH1L1):c.29T>C (p.Leu10Pro)	ALDH1L1 (L10P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468369	NM_012190.4(ALDH1L1):c.24G>T (p.Gln8His)	ALDH1L1 (Q8H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 57791	GRCh38/hg38 3q21.3(chr3:126167799-126819908)x3	ALDH1L1, ALDH1L1-AS2 +25 more	Copy number gain	See cases	GUncertain significance
Select item 3062736	GRCh37/hg19 3q21.2-21.3(chr3:124119718-127457671)x1	ABTB1, ALDH1L1 +26 more	Copy number loss	not specified	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1704652	GRCh37/hg19 3q21.2-21.3(chr3:124981934-126093700)x3	ALDH1L1, KLF15 +5 more	Copy number gain	Chromosome 16 trisomy	GUncertain significance
Select item 1527040	GRCh37/hg19 3q21.2-21.3(chr3:124990058-126401548)	ALDH1L1, C3orf22 +12 more	Copy number gain	not specified	GUncertain significance
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	ABTB1, ACAD11 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1183991	Single allele	ABTB1, ACAD9 +59 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 1183989	Single allele	ABTB1, ADCY5 +69 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 814479	GRCh37/hg19 3q21.3(chr3:125826729-126040939)x3	ALDH1L1	Copy number gain	not provided	GUncertain significance
Select item 685939	GRCh37/hg19 3q21.2-21.3(chr3:124981934-126088215)x3	ALDH1L1, KLF15 +5 more	Copy number gain	not provided	GUncertain significance
Select item 625698	GRCh37/hg19 3q21.2-21.3(chr3:124369671-126423192)	ALDH1L1, C3orf22 +19 more	Copy number loss	not provided	GLikely pathogenic
Select item 442544	GRCh37/hg19 3q21.2-21.3(chr3:124990032-126088215)x3	ALDH1L1, KLF15 +5 more	Copy number gain	See cases	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442219	GRCh37/hg19 3q21.2-21.3(chr3:124981934-126087100)x3	ALDH1L1, KLF15 +5 more	Copy number gain	See cases	GUncertain significance

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Items: 100