ClinVar for Gene (Select 10840) - ClinVar

Links from Gene

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 3062736	GRCh37/hg19 3q21.2-21.3(chr3:124119718-127457671)x1	ABTB1, ALDH1L1 +26 more	Copy number loss	not specified	GUncertain significance
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 795917	NM_012190.4(ALDH1L1):c.477C>T (p.Thr159=)	ALDH1L1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 790543	NM_012190.4(ALDH1L1):c.128-9G>A	ALDH1L1	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 780408	NM_012190.4(ALDH1L1):c.2334G>A (p.Gln778=)	ALDH1L1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 734456	NM_012190.4(ALDH1L1):c.234C>T (p.Ala78=)	ALDH1L1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 728734	NM_012190.4(ALDH1L1):c.631-5C>T	ALDH1L1	Single nucleotide variant (intron variant)	not provided	GBenign
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 722832	NM_012190.4(ALDH1L1):c.1335C>T (p.Thr445=)	ALDH1L1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 713087	NM_012190.4(ALDH1L1):c.2453+6G>A	ALDH1L1, ALDH1L1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 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
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 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
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 152210	GRCh38/hg38 3q13.33-21.3(chr3:121925147-126782249)x1	LOC129937447, LOC129937448 +214 more	Copy number loss	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 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57791	GRCh38/hg38 3q21.3(chr3:126167799-126819908)x3	ALDH1L1, ALDH1L1-AS2 +25 more	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 100