ClinVar for Gene (Select 4329) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244015	NC_000014.8:g.(?_74111743)_(74551097_?)del	ALDH6A1, BBOF1 +8 more	Deletion	Primary ciliary dyskinesia 16	GPathogenic
Select item 3109867	NM_005589.4(ALDH6A1):c.419G>A (p.Arg140Gln)	ALDH6A1, BBOF1 (R127Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3109851	NM_005589.4(ALDH6A1):c.254C>T (p.Ser85Phe)	ALDH6A1, BBOF1 (S85F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3061947	NM_005589.4(ALDH6A1):c.1462C>T (p.Arg488Ter)	ALDH6A1, BBOF1 (R334* +2 more)	Single nucleotide variant (nonsense +1 more)	Methylmalonate semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 3048380	NM_005589.4(ALDH6A1):c.6G>T (p.Ala2=)	ALDH6A1	Single nucleotide variant (synonymous variant +1 more)	ALDH6A1-related disorder	GLikely benign
Select item 3048107	NM_005589.4(ALDH6A1):c.853-4_853-3dup	ALDH6A1, BBOF1	Duplication (intron variant)	ALDH6A1-related disorder	GLikely benign
Select item 3022381	NM_005589.4(ALDH6A1):c.112-11_112-9del	ALDH6A1, BBOF1	Deletion (intron variant)	not provided	GLikely benign
Select item 3022359	NM_005589.4(ALDH6A1):c.39G>A (p.Arg13=)	ALDH6A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3021690	NM_005589.4(ALDH6A1):c.804T>C (p.Tyr268=)	ALDH6A1, BBOF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003462	NM_005589.4(ALDH6A1):c.349-15G>A	ALDH6A1, BBOF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002095	NM_005589.4(ALDH6A1):c.1405-6T>C	ALDH6A1, BBOF1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2965009	NM_005589.4(ALDH6A1):c.49-18C>T	ALDH6A1, BBOF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2896850	NM_005589.4(ALDH6A1):c.1488T>C (p.Asn496=)	ALDH6A1, BBOF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2894980	NM_005589.4(ALDH6A1):c.723G>A (p.Gln241=)	ALDH6A1, BBOF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2865099	NM_005589.4(ALDH6A1):c.846C>T (p.Ala282=)	ALDH6A1, BBOF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2785222	NM_005589.4(ALDH6A1):c.1042+8A>G	ALDH6A1, BBOF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2711585	NM_005589.4(ALDH6A1):c.44T>A (p.Leu15Gln)	ALDH6A1 (L15Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2703788	NM_005589.4(ALDH6A1):c.368T>C (p.Ile123Thr)	ALDH6A1, BBOF1 (I110T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2684735	GRCh37/hg19 14q24.3(chr14:74386185-74726710)x3	ALDH6A1, BBOF1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2550849	NM_005589.4(ALDH6A1):c.299G>A (p.Ser100Asn)	ALDH6A1, BBOF1 (S100N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2438975	NM_005589.4(ALDH6A1):c.349-3T>C	ALDH6A1, BBOF1	Single nucleotide variant (intron variant)	Methylmalonate semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 2395204	NM_005589.4(ALDH6A1):c.106T>G (p.Ser36Ala)	ALDH6A1, BBOF1 (S36A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2386373	NM_005589.4(ALDH6A1):c.183C>G (p.Asn61Lys)	ALDH6A1, BBOF1 (N61K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2373500	NM_005589.4(ALDH6A1):c.256T>A (p.Cys86Ser)	ALDH6A1, BBOF1 (C86S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2367940	NM_005589.4(ALDH6A1):c.1456G>A (p.Gly486Ser)	ALDH6A1, BBOF1 (G473S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2349378	NM_005589.4(ALDH6A1):c.788A>G (p.Asn263Ser)	ALDH6A1, BBOF1 (N263S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336695	NM_005589.4(ALDH6A1):c.97T>C (p.Phe33Leu)	ALDH6A1, BBOF1 (F33L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2301155	NM_005589.4(ALDH6A1):c.681T>G (p.Asp227Glu)	ALDH6A1, BBOF1 (D214E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278645	NM_005589.4(ALDH6A1):c.1022A>G (p.Lys341Arg)	ALDH6A1, BBOF1 (K187R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276544	NM_005589.4(ALDH6A1):c.631T>C (p.Ser211Pro)	ALDH6A1, BBOF1 (S198P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230914	NM_005589.4(ALDH6A1):c.1144CTT[1] (p.Leu383del)	ALDH6A1, BBOF1 (L229del +2 more)	Microsatellite (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 2230385	NM_005589.4(ALDH6A1):c.354A>C (p.Glu118Asp)	ALDH6A1, BBOF1 (E105D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2208867	NM_005589.4(ALDH6A1):c.1443G>A (p.Met481Ile)	ALDH6A1, BBOF1 (M481I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2201335	NM_005589.4(ALDH6A1):c.732T>C (p.Ala244=)	ALDH6A1, BBOF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2197447	NM_005589.4(ALDH6A1):c.1A>G (p.Met1Val)	ALDH6A1 (M1V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2190766	NM_005589.4(ALDH6A1):c.427+1G>A	ALDH6A1, BBOF1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2188827	NM_005589.4(ALDH6A1):c.711C>T (p.Ile237=)	ALDH6A1, BBOF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2186466	NM_005589.4(ALDH6A1):c.171C>T (p.Ile57=)	ALDH6A1, BBOF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2186067	NM_005589.4(ALDH6A1):c.40A>C (p.Ile14Leu)	ALDH6A1 (I14L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2176714	NM_005589.4(ALDH6A1):c.1358A>G (p.Asn453Ser)	ALDH6A1, BBOF1 (N299S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2148369	NM_005589.4(ALDH6A1):c.748G>A (p.Asp250Asn)	ALDH6A1, BBOF1 (D237N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2148202	NM_005589.4(ALDH6A1):c.1372C>T (p.Arg458Trp)	ALDH6A1, BBOF1 (R458W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2128018	NM_005589.4(ALDH6A1):c.287C>T (p.Thr96Ile)	ALDH6A1, BBOF1 (T96I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2115394	NM_005589.4(ALDH6A1):c.1405-3T>C	ALDH6A1, BBOF1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2111870	NM_005589.4(ALDH6A1):c.853-6T>C	ALDH6A1, BBOF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2093638	NM_005589.4(ALDH6A1):c.948C>T (p.Arg316=)	ALDH6A1, BBOF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2071034	NM_005589.4(ALDH6A1):c.262C>T (p.Arg88Cys)	ALDH6A1, BBOF1 (R88C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2070788	NM_005589.4(ALDH6A1):c.111+17T>G	ALDH6A1, BBOF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2068602	NM_005589.4(ALDH6A1):c.412G>A (p.Val138Ile)	ALDH6A1, BBOF1 (V125I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2068431	NM_005589.4(ALDH6A1):c.1350C>T (p.Phe450=)	ALDH6A1, BBOF1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2065973	NM_005589.4(ALDH6A1):c.1106A>G (p.Asn369Ser)	BBOF1, ALDH6A1 (N215S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2052330	NM_005589.4(ALDH6A1):c.623T>C (p.Met208Thr)	ALDH6A1, BBOF1 (M208T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2039288	NM_005589.4(ALDH6A1):c.730+11T>C	ALDH6A1, BBOF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2037195	NM_005589.4(ALDH6A1):c.925G>A (p.Ala309Thr)	ALDH6A1, BBOF1 (A155T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2024227	NM_005589.4(ALDH6A1):c.939T>C (p.Ala313=)	ALDH6A1, BBOF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2018781	NM_005589.4(ALDH6A1):c.730+19A>G	ALDH6A1, BBOF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2009481	NM_005589.4(ALDH6A1):c.1386C>G (p.His462Gln)	ALDH6A1, BBOF1 (H462Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1998417	NM_005589.4(ALDH6A1):c.1042+12C>T	ALDH6A1, BBOF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1996290	NM_005589.4(ALDH6A1):c.49-13T>G	ALDH6A1, BBOF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1994900	NM_005589.4(ALDH6A1):c.952A>G (p.Met318Val)	ALDH6A1, BBOF1 (M305V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1982073	NM_005589.4(ALDH6A1):c.1225-4G>A	ALDH6A1, BBOF1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1955630	NM_005589.4(ALDH6A1):c.319C>T (p.Arg107Cys)	ALDH6A1, BBOF1 (R107C)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1955102	NM_005589.4(ALDH6A1):c.1469C>A (p.Ser490Tyr)	ALDH6A1, BBOF1 (S477Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1949804	NM_005589.4(ALDH6A1):c.809T>G (p.Phe270Cys)	BBOF1, ALDH6A1 (F257C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1948783	NM_005589.4(ALDH6A1):c.509A>G (p.Tyr170Cys)	ALDH6A1, BBOF1 (Y157C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1948437	NM_005589.4(ALDH6A1):c.1116T>C (p.Asp372=)	ALDH6A1, BBOF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1942807	NM_005589.4(ALDH6A1):c.187-1G>A	ALDH6A1, BBOF1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1934858	NM_005589.4(ALDH6A1):c.165A>G (p.Lys55=)	ALDH6A1, BBOF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1927489	NM_005589.4(ALDH6A1):c.592A>C (p.Met198Leu)	ALDH6A1, BBOF1 (M185L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1902767	NM_005589.4(ALDH6A1):c.376G>A (p.Glu126Lys)	ALDH6A1, BBOF1 (E126K +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1899596	NM_005589.4(ALDH6A1):c.111+10T>A	ALDH6A1, BBOF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1708488	NM_005589.4(ALDH6A1):c.248T>C (p.Ile83Thr)	ALDH6A1, BBOF1 (I83T)	Single nucleotide variant (missense variant +1 more)	Methylmalonate semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1652031	NM_005589.4(ALDH6A1):c.349-18T>C	ALDH6A1, BBOF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1639350	NM_005589.4(ALDH6A1):c.1405-11T>C	ALDH6A1, BBOF1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1637553	NM_005589.4(ALDH6A1):c.1405-18G>A	ALDH6A1, BBOF1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1636444	NM_005589.4(ALDH6A1):c.112-11del	ALDH6A1, BBOF1	Deletion (intron variant)	not provided	GLikely benign
Select item 1636253	NM_005589.4(ALDH6A1):c.348+19A>G	ALDH6A1, BBOF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1629847	NM_005589.4(ALDH6A1):c.49-17G>A	ALDH6A1, BBOF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1618092	NM_005589.4(ALDH6A1):c.690C>A (p.Ala230=)	ALDH6A1, BBOF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1609864	NM_005589.4(ALDH6A1):c.349-16T>C	ALDH6A1, BBOF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1586170	NM_005589.4(ALDH6A1):c.112-7_112-4dup	ALDH6A1, BBOF1	Duplication (intron variant)	not provided	GLikely benign
Select item 1545193	NM_005589.4(ALDH6A1):c.942T>A (p.Gly314=)	ALDH6A1, BBOF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1505058	NM_005589.4(ALDH6A1):c.1304T>C (p.Ile435Thr)	ALDH6A1, BBOF1 (I281T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1487052	NM_005589.4(ALDH6A1):c.1532C>A (p.Thr511Asn)	ALDH6A1, BBOF1 (T498N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1443224	NM_005589.4(ALDH6A1):c.1013A>C (p.Glu338Ala)	ALDH6A1, BBOF1 (E325A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1433413	NM_005589.4(ALDH6A1):c.1478G>T (p.Gly493Val)	ALDH6A1, BBOF1 (G493V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1419533	NM_005589.4(ALDH6A1):c.1373G>A (p.Arg458Gln)	ALDH6A1, BBOF1 (R445Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1418575	NM_005589.4(ALDH6A1):c.53C>T (p.Ser18Phe)	ALDH6A1, BBOF1 (S18F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1395079	NM_005589.4(ALDH6A1):c.919G>A (p.Gly307Arg)	ALDH6A1, BBOF1 (G307R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1389389	NM_005589.4(ALDH6A1):c.1148T>G (p.Leu383Arg)	ALDH6A1, BBOF1 (L370R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1389226	NM_005589.4(ALDH6A1):c.1093G>A (p.Glu365Lys)	BBOF1, ALDH6A1 (E352K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1381332	NM_005589.4(ALDH6A1):c.733G>A (p.Val245Ile)	ALDH6A1, BBOF1 (V245I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1367704	NM_005589.4(ALDH6A1):c.878T>G (p.Met293Arg)	ALDH6A1, BBOF1 (M139R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1359636	NM_005589.4(ALDH6A1):c.1483A>G (p.Thr495Ala)	ALDH6A1, BBOF1 (T495A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1340029	GRCh37/hg19 14q24.3(chr14:74490251-75116040)x3	ABCD4, ALDH6A1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	AP5M1, EXOC5 +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 1033011	NM_005589.4(ALDH6A1):c.1307A>G (p.Gln436Arg)	ALDH6A1, BBOF1 (Q436R +2 more)	Single nucleotide variant (missense variant +1 more)	Methylmalonate semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 1009082	NM_005589.4(ALDH6A1):c.827A>G (p.His276Arg)	ALDH6A1, BBOF1 (H122R +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance

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