ALDH1B1[gene] and "single gene"[properties] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2263549	NM_000692.5(ALDH1B1):c.85A>G (p.Ile29Val)	ALDH1B1 (I29V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3109041	NM_000692.5(ALDH1B1):c.152A>G (p.Lys51Arg)	ALDH1B1 (K51R)	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 2350634	NM_000692.5(ALDH1B1):c.167C>T (p.Thr56Met)	ALDH1B1 (T56M)	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 136359	NM_000692.5(ALDH1B1):c.183C>T (p.Thr61=)	ALDH1B1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
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 3109055	NM_000692.5(ALDH1B1):c.193A>G (p.Ile65Val)	ALDH1B1 (I65V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 136360	NM_000692.5(ALDH1B1):c.195T>C (p.Ile65=)	ALDH1B1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
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 2257353	NM_000692.5(ALDH1B1):c.220G>T (p.Ala74Ser)	ALDH1B1 (A74S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 136361	NM_000692.5(ALDH1B1):c.257C>T (p.Ala86Val)	ALDH1B1 (A86V)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
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 214108	NM_000692.5(ALDH1B1):c.283C>T (p.Arg95Trp)	ALDH1B1 (R95W)	Single nucleotide variant (missense variant)	not provided	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 2462128	NM_000692.5(ALDH1B1):c.287T>A (p.Met96Lys)	ALDH1B1 (M96K)	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 972976	NM_000692.5(ALDH1B1):c.319C>T (p.Arg107Cys)	ALDH1B1 (R107C)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 136362	NM_000692.5(ALDH1B1):c.320G>T (p.Arg107Leu)	ALDH1B1 (R107L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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 214109	NM_000692.5(ALDH1B1):c.398A>G (p.Glu133Gly)	ALDH1B1 (E133G)	Single nucleotide variant (missense variant)	not provided	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 2621703	NM_000692.5(ALDH1B1):c.433G>A (p.Val145Met)	ALDH1B1 (V145M)	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 2389174	NM_000692.5(ALDH1B1):c.481A>G (p.Ile161Val)	ALDH1B1 (I161V)	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 3109075	NM_000692.5(ALDH1B1):c.514C>G (p.Arg172Gly)	ALDH1B1 (R172G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 136363	NM_000692.5(ALDH1B1):c.526G>A (p.Val176Ile)	ALDH1B1 (V176I)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
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 214110	NM_000692.5(ALDH1B1):c.571A>G (p.Met191Val)	ALDH1B1 (M191V)	Single nucleotide variant (missense variant)	not specified +1 more	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 217512	NM_000692.5(ALDH1B1):c.578del (p.Gly193fs)	ALDH1B1 (G193fs)	Deletion (frameshift variant)	not specified	GLikely benign
Select item 136364	NM_000692.5(ALDH1B1):c.627G>A (p.Lys209=)	ALDH1B1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 214112	NM_000692.5(ALDH1B1):c.646C>G (p.Leu216Val)	ALDH1B1 (L216V)	Single nucleotide variant (missense variant)	not provided	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 136365	NM_000692.5(ALDH1B1):c.757G>A (p.Val253Met)	ALDH1B1 (V253M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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 214105	NM_000692.5(ALDH1B1):c.783C>T (p.Thr261=)	ALDH1B1	Single nucleotide variant (synonymous variant)	not specified	GBenign
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 2357318	NM_000692.5(ALDH1B1):c.821C>T (p.Ala274Val)	ALDH1B1 (A274V)	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 214114	NM_000692.5(ALDH1B1):c.1043T>C (p.Val348Ala)	ALDH1B1 (V348A)	Single nucleotide variant (missense variant)	not provided	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 214116	NM_000692.5(ALDH1B1):c.1144G>A (p.Ala382Thr)	ALDH1B1 (A382T)	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 2375236	NM_000692.5(ALDH1B1):c.1168C>T (p.Arg390Cys)	ALDH1B1 (R390C)	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 2528953	NM_000692.5(ALDH1B1):c.1216G>A (p.Val406Met)	ALDH1B1 (V406M)	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 2491897	NM_000692.5(ALDH1B1):c.1253T>C (p.Phe418Ser)	ALDH1B1 (F418S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 136366	NM_000692.5(ALDH1B1):c.1299G>C (p.Val433=)	ALDH1B1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
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 2205283	NM_000692.5(ALDH1B1):c.1337C>T (p.Ala446Val)	ALDH1B1 (A446V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 136367	NM_000692.5(ALDH1B1):c.1338G>A (p.Ala446=)	ALDH1B1	Single nucleotide variant (synonymous variant)	not specified	GBenign
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 379495	NM_000692.5(ALDH1B1):c.1352G>A (p.Arg451Gln)	ALDH1B1 (R451Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 214118	NM_000692.5(ALDH1B1):c.1415C>T (p.Thr472Ile)	ALDH1B1 (T472I)	Single nucleotide variant (missense variant)	not provided	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 2485431	NM_000692.5(ALDH1B1):c.1491T>A (p.Asp497Glu)	ALDH1B1 (D497E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1265387	NM_000692.5(ALDH1B1):c.*56G>C	ALDH1B1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign

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Items: 64