ClinVar for Gene (Select 219) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3283476	NM_000692.5(ALDH1B1):c.1313A>G (p.Asn438Ser)	ALDH1B1 (N438S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283447	NM_000692.5(ALDH1B1):c.1181G>A (p.Arg394His)	ALDH1B1 (R394H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242301	GRCh37/hg19 9p13.3-13.1(chr9:35495055-39184042)x1	ALDH1B1, ANKRD18A +45 more	Copy number loss	not provided	GPathogenic
Select item 3109105	NM_000692.5(ALDH1B1):c.95C>A (p.Pro32Gln)	ALDH1B1 (P32Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109086	NM_000692.5(ALDH1B1):c.572T>C (p.Met191Thr)	ALDH1B1 (M191T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109075	NM_000692.5(ALDH1B1):c.514C>G (p.Arg172Gly)	ALDH1B1 (R172G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109073	NM_000692.5(ALDH1B1):c.434T>C (p.Val145Ala)	ALDH1B1 (V145A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109062	NM_000692.5(ALDH1B1):c.284G>A (p.Arg95Gln)	ALDH1B1 (R95Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3109055	NM_000692.5(ALDH1B1):c.193A>G (p.Ile65Val)	ALDH1B1 (I65V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109047	NM_000692.5(ALDH1B1):c.164C>T (p.Pro55Leu)	ALDH1B1 (P55L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109041	NM_000692.5(ALDH1B1):c.152A>G (p.Lys51Arg)	ALDH1B1 (K51R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109027	NM_000692.5(ALDH1B1):c.1351C>T (p.Arg451Trp)	ALDH1B1 (R451W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109016	NM_000692.5(ALDH1B1):c.1251C>G (p.Ile417Met)	ALDH1B1 (I417M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063115	GRCh37/hg19 9p13.3-13.1(chr9:35440393-38787480)x1	ALDH1B1, ANKRD18A +44 more	Copy number loss	not specified	GLikely pathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 2685350	GRCh37/hg19 9p13.2-13.1(chr9:37952631-38787480)x1	ALDH1B1, ANKRD18A +2 more	Copy number loss	not provided	GUncertain significance
Select item 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	CREB3, STOML2 +188 more	Copy number gain	not provided	GPathogenic
Select item 2621703	NM_000692.5(ALDH1B1):c.433G>A (p.Val145Met)	ALDH1B1 (V145M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594169	NM_000692.5(ALDH1B1):c.1125G>C (p.Gln375His)	ALDH1B1 (Q375H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559219	NM_000692.5(ALDH1B1):c.179C>A (p.Thr60Asn)	ALDH1B1 (T60N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545342	NM_000692.5(ALDH1B1):c.784G>C (p.Gly262Arg)	ALDH1B1 (G262R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543811	NM_000692.5(ALDH1B1):c.1448G>A (p.Gly483Glu)	ALDH1B1 (G483E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541261	NM_000692.5(ALDH1B1):c.307C>T (p.Arg103Trp)	ALDH1B1 (R103W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534220	NM_000692.5(ALDH1B1):c.184G>T (p.Gly62Trp)	ALDH1B1 (G62W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528953	NM_000692.5(ALDH1B1):c.1216G>A (p.Val406Met)	ALDH1B1 (V406M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491897	NM_000692.5(ALDH1B1):c.1253T>C (p.Phe418Ser)	ALDH1B1 (F418S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485431	NM_000692.5(ALDH1B1):c.1491T>A (p.Asp497Glu)	ALDH1B1 (D497E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484549	NM_000692.5(ALDH1B1):c.740C>T (p.Ala247Val)	ALDH1B1 (A247V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462128	NM_000692.5(ALDH1B1):c.287T>A (p.Met96Lys)	ALDH1B1 (M96K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399818	NM_000692.5(ALDH1B1):c.971G>A (p.Arg324Gln)	ALDH1B1 (R324Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389174	NM_000692.5(ALDH1B1):c.481A>G (p.Ile161Val)	ALDH1B1 (I161V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375236	NM_000692.5(ALDH1B1):c.1168C>T (p.Arg390Cys)	ALDH1B1 (R390C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370641	NM_000692.5(ALDH1B1):c.331C>G (p.Leu111Val)	ALDH1B1 (L111V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365102	NM_000692.5(ALDH1B1):c.53G>A (p.Arg18His)	ALDH1B1 (R18H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357318	NM_000692.5(ALDH1B1):c.821C>T (p.Ala274Val)	ALDH1B1 (A274V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350634	NM_000692.5(ALDH1B1):c.167C>T (p.Thr56Met)	ALDH1B1 (T56M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329443	NM_000692.5(ALDH1B1):c.559T>G (p.Phe187Val)	ALDH1B1 (F187V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303810	NM_000692.5(ALDH1B1):c.412G>C (p.Asp138His)	ALDH1B1 (D138H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288857	NM_000692.5(ALDH1B1):c.482T>C (p.Ile161Thr)	ALDH1B1 (I161T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263549	NM_000692.5(ALDH1B1):c.85A>G (p.Ile29Val)	ALDH1B1 (I29V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257353	NM_000692.5(ALDH1B1):c.220G>T (p.Ala74Ser)	ALDH1B1 (A74S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217065	NM_000692.5(ALDH1B1):c.218G>A (p.Arg73Gln)	ALDH1B1 (R73Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205283	NM_000692.5(ALDH1B1):c.1337C>T (p.Ala446Val)	ALDH1B1 (A446V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1707628	GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3	ACER2, ACO1 +199 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1703576	GRCh37/hg19 9p24.3-q13(chr9:203861-68342786)	ACER2, ACO1 +204 more	Copy number gain	Bradycardia	GPathogenic
Select item 1703570	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)	ACER2, ACO1 +204 more	Copy number gain	Tetrasomy 9p	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1527488	GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)	SPATA31A5, SPATA31A6 +257 more	Copy number gain	not specified	GPathogenic
Select item 1527487	GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)	ACER2, ACO1 +205 more	Copy number gain	not specified	GPathogenic
Select item 1265387	NM_000692.5(ALDH1B1):c.*56G>C	ALDH1B1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1249390	NC_000009.12:g.38392607G>T	ALDH1B1, LOC130001829	Single nucleotide variant	not provided	GBenign
Select item 1210153	GRCh37/hg19 9p13.3-13.1(chr9:36088563-39092820)x1	MELK, PAX5 +22 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 1210152	GRCh37/hg19 9p13.2-13.1(chr9:36442195-39156958)x1	ALDH1B1, ANKRD18A +19 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 1210151	GRCh37/hg19 9p13.2-13.1(chr9:36426622-38787479)x1	EXOSC3, FBXO10 +15 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 980338	GRCh37/hg19 9p13.2-13.1(chr9:38300619-38498138)x1	ALDH1B1, IGFBPL1	Copy number loss	not provided	GLikely benign
Select item 972976	NM_000692.5(ALDH1B1):c.319C>T (p.Arg107Cys)	ALDH1B1 (R107C)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 815261	GRCh37/hg19 9p13.2-13.1(chr9:36539229-38787480)x3	SLC25A51, POLR1E +15 more	Copy number gain	not provided	GUncertain significance
Select item 815190	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3	ACER2, ACO1 +213 more	Copy number gain	not provided	GPathogenic
Select item 694460	NC_000009.11:g.12246100_101559378inv	ANKS6, ANP32B +326 more	Inversion	Abnormal chromosome morphology +1 more	GLikely pathogenic
Select item 689135	GRCh37/hg19 9p13.3-q13(chr9:34542635-68210033)x3	ALDH1B1, ANKRD18A +74 more	Copy number gain	not provided	GPathogenic
Select item 687476	GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3	CER1, CHMP5 +193 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 685107	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3	CNTNAP3B, CREB3 +204 more	Copy number gain	not provided	GPathogenic
Select item 625636	GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958)	GBA2, MPDZ +195 more	Copy number gain	not provided	GPathogenic
Select item 617751	Single allele	APBA1, APTX +185 more	Complex	Glioma	GLikely pathogenic
Select item 563687	GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3	ACER2, ACO1 +225 more	Copy number gain	not provided	GPathogenic
Select item 563686	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4	ACER2, ACO1 +213 more	Copy number gain	not provided	GPathogenic
Select item 563685	GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4	CNTNAP3, CNTNAP3B +204 more	Copy number gain	not provided	GPathogenic
Select item 563684	GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4	ATOSB, B4GALT1 +204 more	Copy number gain	not provided	GPathogenic
Select item 563683	GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3	DMAC1, DMRT1 +194 more	Copy number gain	not provided	GPathogenic
Select item 559575	GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4	ACER2, ACO1 +201 more	Copy number gain	Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 443177	GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3	ACER2, ACO1 +194 more	Copy number gain	See cases	GPathogenic
Select item 442489	GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3	ABHD17B, ACER2 +274 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 394346	GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211)	CIMIP2B, CLTA +197 more	Copy number gain	See cases	GPathogenic
Select item 393860	GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4	ACER2, ACO1 +215 more	Copy number gain	See cases	GPathogenic
Select item 379495	NM_000692.5(ALDH1B1):c.1352G>A (p.Arg451Gln)	ALDH1B1 (R451Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 253667	GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253633	GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253592	GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4	ACER2, ACO1 +202 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 217512	NM_000692.5(ALDH1B1):c.578del (p.Gly193fs)	ALDH1B1 (G193fs)	Deletion (frameshift variant)	not specified	GLikely benign
Select item 214118	NM_000692.5(ALDH1B1):c.1415C>T (p.Thr472Ile)	ALDH1B1 (T472I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214117	NM_000692.5(ALDH1B1):c.1409T>C (p.Val470Ala)	ALDH1B1 (V470A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214116	NM_000692.5(ALDH1B1):c.1144G>A (p.Ala382Thr)	ALDH1B1 (A382T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214114	NM_000692.5(ALDH1B1):c.1043T>C (p.Val348Ala)	ALDH1B1 (V348A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214113	NM_000692.5(ALDH1B1):c.764T>C (p.Val255Ala)	ALDH1B1 (V255A)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 214112	NM_000692.5(ALDH1B1):c.646C>G (p.Leu216Val)	ALDH1B1 (L216V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214111	NM_000692.5(ALDH1B1):c.643C>T (p.Pro215Ser)	ALDH1B1 (P215S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214110	NM_000692.5(ALDH1B1):c.571A>G (p.Met191Val)	ALDH1B1 (M191V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 214109	NM_000692.5(ALDH1B1):c.398A>G (p.Glu133Gly)	ALDH1B1 (E133G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214108	NM_000692.5(ALDH1B1):c.283C>T (p.Arg95Trp)	ALDH1B1 (R95W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214107	NM_000692.5(ALDH1B1):c.281G>A (p.Arg94His)	ALDH1B1 (R94H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214106	NM_000692.5(ALDH1B1):c.1161del (p.Gly388fs)	ALDH1B1 (G388fs)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 214105	NM_000692.5(ALDH1B1):c.783C>T (p.Thr261=)	ALDH1B1	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ACER2, ACO1 +899 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic

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