ClinVar for Gene (Select 6718) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362334	NM_005989.4(AKR1D1):c.141_142del (p.Gly48fs)	AKR1D1 (G48fs)	Deletion (frameshift variant)	Congenital bile acid synthesis defect 2	GUncertain significance
Select item 3358369	NM_005989.4(AKR1D1):c.120G>A (p.Ser40=)	AKR1D1	Single nucleotide variant (synonymous variant)	AKR1D1-related disorder	GUncertain significance
Select item 3355248	NM_005989.4(AKR1D1):c.232C>A (p.Arg78=)	AKR1D1	Single nucleotide variant (synonymous variant)	AKR1D1-related disorder	GLikely benign
Select item 3351739	NM_005989.4(AKR1D1):c.594G>A (p.Pro198=)	AKR1D1	Single nucleotide variant (synonymous variant)	AKR1D1-related disorder	GLikely benign
Select item 3347250	NM_005989.4(AKR1D1):c.660C>G (p.Ser220Arg)	AKR1D1 (S179R +1 more)	Single nucleotide variant (missense variant)	AKR1D1-related disorder	GUncertain significance
Select item 3282749	NM_005989.4(AKR1D1):c.215T>C (p.Ile72Thr)	AKR1D1 (I72T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3282739	NM_005989.4(AKR1D1):c.800G>A (p.Gly267Glu)	AKR1D1 (G267E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107977	NM_005989.4(AKR1D1):c.970G>A (p.Asp324Asn)	AKR1D1 (D324N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3107969	NM_005989.4(AKR1D1):c.874A>G (p.Thr292Ala)	AKR1D1 (T292A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3107966	NM_005989.4(AKR1D1):c.697G>A (p.Val233Ile)	AKR1D1 (V192I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107939	NM_005989.4(AKR1D1):c.321G>C (p.Arg107Ser)	AKR1D1 (R107S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107933	NM_005989.4(AKR1D1):c.187G>A (p.Glu63Lys)	AKR1D1 (E63K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065888	NM_005989.4(AKR1D1):c.467_469dup (p.Ala156_Cys157insSer)	AKR1D1	Duplication (inframe_insertion +1 more)	Congenital bile acid synthesis defect 2	GUncertain significance
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 3056985	NM_005989.4(AKR1D1):c.379-6_379-4del	AKR1D1	Deletion (intron variant)	AKR1D1-related disorder	GBenign
Select item 3054961	NM_005989.4(AKR1D1):c.579+6G>A	AKR1D1	Single nucleotide variant (intron variant)	AKR1D1-related disorder	GLikely benign
Select item 3054291	NM_005989.4(AKR1D1):c.379-4dup	AKR1D1	Duplication (intron variant)	AKR1D1-related disorder	GLikely benign
Select item 3052541	NM_005989.4(AKR1D1):c.379-7_379-4del	AKR1D1	Deletion (intron variant)	AKR1D1-related disorder	GLikely benign
Select item 3048250	NM_005989.4(AKR1D1):c.186C>T (p.His62=)	AKR1D1	Single nucleotide variant (synonymous variant)	AKR1D1-related disorder	GLikely benign
Select item 3047755	NM_005989.4(AKR1D1):c.379-4T>C	AKR1D1	Single nucleotide variant (intron variant)	AKR1D1-related disorder	GLikely benign
Select item 3030499	NM_005989.4(AKR1D1):c.938+9C>T	AKR1D1	Single nucleotide variant (intron variant)	AKR1D1-related disorder	GLikely benign
Select item 3028989	NM_005989.4(AKR1D1):c.931T>C (p.Leu311=)	AKR1D1	Single nucleotide variant (synonymous variant +1 more)	AKR1D1-related disorder	GLikely benign
Select item 2990985	NM_005989.4(AKR1D1):c.946G>A (p.Asp316Asn)	AKR1D1 (R288Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980325	NM_005989.4(AKR1D1):c.739T>C (p.Leu247=)	AKR1D1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2910216	NM_005989.4(AKR1D1):c.919C>T (p.Arg307Cys)	AKR1D1 (R266C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2838879	NM_005989.4(AKR1D1):c.506C>A (p.Ser169Tyr)	AKR1D1 (S169Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2832975	NM_005989.4(AKR1D1):c.689+1G>A	AKR1D1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2779406	NM_005989.4(AKR1D1):c.771A>G (p.Gln257=)	AKR1D1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	ARHGEF35, KEL +169 more	Copy number loss	not provided	GPathogenic
Select item 2682999	NM_005989.4(AKR1D1):c.406G>A (p.Glu136Lys)	AKR1D1 (E136K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2635667	NM_005989.4(AKR1D1):c.172T>C (p.Tyr58His)	AKR1D1 (Y58H)	Single nucleotide variant (missense variant)	AKR1D1-related disorder	GUncertain significance
Select item 2633903	NM_005989.4(AKR1D1):c.579+2_579+4delinsA	AKR1D1	Indel (splice donor variant +1 more)	AKR1D1-related disorder	GLikely pathogenic
Select item 2623185	NM_005989.4(AKR1D1):c.127G>T (p.Val43Phe)	AKR1D1 (V43F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612170	NM_005989.4(AKR1D1):c.133A>G (p.Ile45Val)	AKR1D1 (I45V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2585007	NM_005989.4(AKR1D1):c.949C>T (p.His317Tyr)	AKR1D1 (S289L +2 more)	Single nucleotide variant (missense variant)	Congenital bile acid synthesis defect 2	GUncertain significance
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2438957	NM_005989.4(AKR1D1):c.66_71del (p.Leu23_Gly24del)	AKR1D1	Deletion (inframe_deletion)	Congenital bile acid synthesis defect 2	GUncertain significance
Select item 2425346	NC_000007.13:g.(?_130781014)_(150301047_?)del	CTAGE6, CTAGE8 +141 more	Deletion	not provided	GPathogenic
Select item 2387717	NM_005989.4(AKR1D1):c.943C>T (p.Arg315Cys)	AKR1D1 (A287V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342717	NM_005989.4(AKR1D1):c.177A>T (p.Gln59His)	AKR1D1 (Q59H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333673	NM_005989.4(AKR1D1):c.478G>A (p.Ala160Thr)	AKR1D1 (A160T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2295055	NM_005989.4(AKR1D1):c.344A>C (p.Asp115Ala)	AKR1D1 (D115A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286568	NM_005989.4(AKR1D1):c.83A>T (p.Glu28Val)	AKR1D1 (E28V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275192	NM_005989.4(AKR1D1):c.685A>G (p.Ile229Val)	AKR1D1 (I229V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262285	NM_005989.4(AKR1D1):c.202A>G (p.Ile68Val)	AKR1D1 (I68V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2124728	NM_005989.4(AKR1D1):c.759G>A (p.Lys253=)	AKR1D1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2103921	NM_005989.4(AKR1D1):c.100A>G (p.Lys34Glu)	AKR1D1 (K34E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2013196	NM_005989.4(AKR1D1):c.127G>A (p.Val43Ile)	AKR1D1 (V43I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1988995	NM_005989.4(AKR1D1):c.580-11C>T	AKR1D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1988850	NM_005989.4(AKR1D1):c.938+16C>T	AKR1D1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1946862	NM_005989.4(AKR1D1):c.157G>A (p.Asp53Asn)	AKR1D1 (D53N)	Single nucleotide variant (missense variant)	Congenital bile acid synthesis defect 2 +1 more	GUncertain significance
Select item 1807754	GRCh37/hg19 7q32.3-36.1(chr7:131779213-149042734)x1	RAB19, RNY1 +123 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527403	GRCh37/hg19 7q33(chr7:136876370-137804126)	AKR1D1, CREB3L2 +2 more	Copy number loss	not specified	GUncertain significance
Select item 1527395	GRCh37/hg19 7q32.1-34(chr7:127295698-139524358)	CHCHD3, CHRM2 +88 more	Copy number loss	not specified	GPathogenic
Select item 1450681	NC_000007.13:g.(?_137761265)_(141759786_?)dup	ADCK2, AGK +37 more	Duplication	not provided	GUncertain significance
Select item 1341257	GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3	ABCB8, ABCF2 +186 more	Copy number gain	not provided	GPathogenic
Select item 1340568	GRCh37/hg19 7q33-34(chr7:137633442-138213453)x3	AKR1D1, CREB3L2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1330183	GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1	EPHA1, EPHB6 +105 more	Copy number loss	Hypertelorism +7 more	GPathogenic
Select item 1323872	NM_005989.4(AKR1D1):c.864del (p.Ser290fs)	AKR1D1 (S249fs +1 more)	Deletion (frameshift variant +1 more)	Congenital bile acid synthesis defect 2	GLikely pathogenic
Select item 1290624	NM_005989.4(AKR1D1):c.689+311A>C	AKR1D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286553	NM_005989.4(AKR1D1):c.262-91dup	AKR1D1	Duplication (intron variant)	not provided	GBenign
Select item 1283351	NM_005989.4(AKR1D1):c.457-116G>T	AKR1D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282834	NM_005989.4(AKR1D1):c.261+49T>G	AKR1D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280935	NM_005989.4(AKR1D1):c.94-56T>G	AKR1D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276247	NM_005989.4(AKR1D1):c.856-189C>G	AKR1D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275978	NM_005989.4(AKR1D1):c.379-182A>G	AKR1D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271631	NM_005989.4(AKR1D1):c.262-33C>T	AKR1D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269999	NM_005989.4(AKR1D1):c.261+293T>A	AKR1D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262252	NM_005989.4(AKR1D1):c.262-91_262-90insG	AKR1D1	Insertion (intron variant)	not provided	GBenign
Select item 1250925	NM_005989.4(AKR1D1):c.938+75A>T	AKR1D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234022	NM_005989.4(AKR1D1):c.855+94A>G	AKR1D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228091	NM_005989.4(AKR1D1):c.379-5_379-4del	AKR1D1	Deletion (intron variant)	not provided	GBenign
Select item 1225933	NM_005989.4(AKR1D1):c.262-274G>A	AKR1D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182918	NM_005989.4(AKR1D1):c.261+74GT[10]	AKR1D1	Microsatellite (intron variant)	not provided	GBenign
Select item 1175144	NM_005989.4(AKR1D1):c.379-4del	AKR1D1	Deletion (intron variant)	not provided	GBenign
Select item 1070635	NM_005989.4(AKR1D1):c.148C>T (p.Arg50Ter)	AKR1D1 (R50*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1066867	NM_005989.4(AKR1D1):c.262-1G>T	AKR1D1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1064451	NM_005989.4(AKR1D1):c.797G>A (p.Arg266Gln)	AKR1D1 (R225Q +1 more)	Single nucleotide variant (missense variant)	Congenital bile acid synthesis defect 2	GPathogenic/Likely pathogenic
Select item 1030987	NM_005989.4(AKR1D1):c.675T>A (p.Ser225Arg)	AKR1D1 (S184R +1 more)	Single nucleotide variant (missense variant)	Congenital bile acid synthesis defect 2	GUncertain significance
Select item 1030986	NM_005989.4(AKR1D1):c.647T>C (p.Ile216Thr)	AKR1D1 (I216T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1030985	NM_005989.4(AKR1D1):c.509A>G (p.Asn170Ser)	AKR1D1 (N170S)	Single nucleotide variant (missense variant +1 more)	Congenital bile acid synthesis defect 2	GConflicting classifications of pathogenicity
Select item 979796	GRCh37/hg19 7q33(chr7:137658677-137982831)x3	AKR1D1, CREB3L2	Copy number gain	not provided	GUncertain significance
Select item 915331	NM_005989.4(AKR1D1):c.796C>T (p.Arg266Ter)	AKR1D1 (R225* +1 more)	Single nucleotide variant (nonsense)	Congenital bile acid synthesis defect 2	GPathogenic/Likely pathogenic
Select item 915290	NM_005989.4(AKR1D1):c.267G>A (p.Trp89Ter)	AKR1D1 (W89*)	Single nucleotide variant (nonsense)	Congenital bile acid synthesis defect 2	GPathogenic
Select item 911501	NM_005989.4(AKR1D1):c.*1173A>C	AKR1D1	Single nucleotide variant (3 prime UTR variant)	Congenital bile acid synthesis defect 2	GUncertain significance
Select item 911446	NM_005989.4(AKR1D1):c.*710T>C	AKR1D1	Single nucleotide variant (3 prime UTR variant)	Congenital bile acid synthesis defect 2	GUncertain significance
Select item 911445	NM_005989.4(AKR1D1):c.*667C>T	AKR1D1	Single nucleotide variant (3 prime UTR variant)	Congenital bile acid synthesis defect 2	GUncertain significance
Select item 911444	NM_005989.4(AKR1D1):c.*655T>C	AKR1D1	Single nucleotide variant (3 prime UTR variant)	Congenital bile acid synthesis defect 2	GUncertain significance
Select item 911443	NM_005989.4(AKR1D1):c.*598G>A	AKR1D1	Single nucleotide variant (3 prime UTR variant)	Congenital bile acid synthesis defect 2	GUncertain significance
Select item 911442	NM_005989.4(AKR1D1):c.*537T>C	AKR1D1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 911441	NM_005989.4(AKR1D1):c.*432A>G	AKR1D1	Single nucleotide variant (3 prime UTR variant)	Congenital bile acid synthesis defect 2	GUncertain significance
Select item 911371	NM_005989.4(AKR1D1):c.454G>A (p.Glu152Lys)	AKR1D1 (E152K)	Single nucleotide variant (missense variant)	Congenital bile acid synthesis defect 2	GUncertain significance
Select item 911370	NM_005989.4(AKR1D1):c.392T>A (p.Ile131Lys)	AKR1D1 (I131K)	Single nucleotide variant (missense variant)	Congenital bile acid synthesis defect 2 +1 more	GUncertain significance
Select item 911369	NM_005989.4(AKR1D1):c.297C>T (p.Arg99=)	AKR1D1	Single nucleotide variant (synonymous variant)	Congenital bile acid synthesis defect 2	GUncertain significance
Select item 911368	NM_005989.4(AKR1D1):c.195G>A (p.Gly65=)	AKR1D1	Single nucleotide variant (synonymous variant)	Congenital bile acid synthesis defect 2	GUncertain significance
Select item 911241	NM_005989.4(AKR1D1):c.*421T>C	AKR1D1	Single nucleotide variant (3 prime UTR variant)	Congenital bile acid synthesis defect 2	GUncertain significance
Select item 911240	NM_005989.4(AKR1D1):c.*375A>G	AKR1D1	Single nucleotide variant (3 prime UTR variant)	Congenital bile acid synthesis defect 2	GUncertain significance
Select item 911239	NM_005989.4(AKR1D1):c.*372C>T	AKR1D1	Single nucleotide variant (3 prime UTR variant)	Congenital bile acid synthesis defect 2	GLikely benign

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