AKR1D1[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 253

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	TRC-GCA9-3, TRC-GCA9-4 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	See cases	GPathogenic
Select item 149975	GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1	TRBC2, TRBD1 +455 more	Copy number loss	See cases	GPathogenic
Select item 60297	GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1	ADCK2, AGK +373 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
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 60298	GRCh38/hg38 7q33-34(chr7:137741740-139688885)x1	AKR1D1, ATP6V0A4 +88 more	Copy number loss	See cases	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	GPathogenic
Select item 911167	NM_005989.4(AKR1D1):c.-26T>G	AKR1D1	Single nucleotide variant (5 prime UTR variant)	Congenital bile acid synthesis defect 2	GUncertain significance
Select item 193327	NM_005989.4(AKR1D1):c.10A>G (p.Ser4Gly)	AKR1D1 (S4G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 358952	NM_005989.4(AKR1D1):c.21T>G (p.Ser7Arg)	AKR1D1 (S7R)	Single nucleotide variant (missense variant)	Congenital bile acid synthesis defect 2	GUncertain significance
Select item 596197	NM_005989.4(AKR1D1):c.24C>T (p.His8=)	AKR1D1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 594427	NM_005989.4(AKR1D1):c.48C>T (p.Asn16=)	AKR1D1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 500826	NM_005989.4(AKR1D1):c.49A>G (p.Ser17Gly)	AKR1D1 (S17G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 259893	NM_005989.4(AKR1D1):c.60C>T (p.Ile20=)	AKR1D1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 2286568	NM_005989.4(AKR1D1):c.83A>T (p.Glu28Val)	AKR1D1 (E28V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 374562	NM_005989.4(AKR1D1):c.92C>T (p.Ser31Leu)	AKR1D1 (S31L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 500408	NM_005989.4(AKR1D1):c.93+1G>T	AKR1D1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1280935	NM_005989.4(AKR1D1):c.94-56T>G	AKR1D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 594679	NM_005989.4(AKR1D1):c.94-8C>G	AKR1D1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 3358369	NM_005989.4(AKR1D1):c.120G>A (p.Ser40=)	AKR1D1	Single nucleotide variant (synonymous variant)	AKR1D1-related disorder	GUncertain significance
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 2013196	NM_005989.4(AKR1D1):c.127G>A (p.Val43Ile)	AKR1D1 (V43I)	Single nucleotide variant (missense variant)	not provided	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 1070635	NM_005989.4(AKR1D1):c.148C>T (p.Arg50Ter)	AKR1D1 (R50*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 598404	NM_005989.4(AKR1D1):c.149G>A (p.Arg50Gln)	AKR1D1 (R50Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2635667	NM_005989.4(AKR1D1):c.172T>C (p.Tyr58His)	AKR1D1 (Y58H)	Single nucleotide variant (missense variant)	AKR1D1-related disorder	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 3048250	NM_005989.4(AKR1D1):c.186C>T (p.His62=)	AKR1D1	Single nucleotide variant (synonymous variant)	AKR1D1-related disorder	GLikely benign
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 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 2262285	NM_005989.4(AKR1D1):c.202A>G (p.Ile68Val)	AKR1D1 (I68V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3355248	NM_005989.4(AKR1D1):c.232C>A (p.Arg78=)	AKR1D1	Single nucleotide variant (synonymous variant)	AKR1D1-related disorder	GLikely benign
Select item 500030	NM_005989.4(AKR1D1):c.232C>T (p.Arg78Trp)	AKR1D1 (R78W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 594307	NM_005989.4(AKR1D1):c.233G>A (p.Arg78Gln)	AKR1D1 (R78Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 499336	NM_005989.4(AKR1D1):c.242A>T (p.Asp81Val)	AKR1D1 (D81V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 288160	NM_005989.4(AKR1D1):c.261+1G>T	AKR1D1	Single nucleotide variant (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1282834	NM_005989.4(AKR1D1):c.261+49T>G	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 1269999	NM_005989.4(AKR1D1):c.261+293T>A	AKR1D1	Single nucleotide variant (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 1286553	NM_005989.4(AKR1D1):c.262-91dup	AKR1D1	Duplication (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 1271631	NM_005989.4(AKR1D1):c.262-33C>T	AKR1D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 358953	NM_005989.4(AKR1D1):c.262-7C>A	AKR1D1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1066867	NM_005989.4(AKR1D1):c.262-1G>T	AKR1D1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely 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 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 5376	NM_005989.4(AKR1D1):c.316C>T (p.Leu106Phe)	AKR1D1 (L106F)	Single nucleotide variant (missense variant)	Congenital bile acid synthesis defect 2	GPathogenic
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 596853	NM_005989.4(AKR1D1):c.329A>C (p.Gln110Pro)	AKR1D1 (Q110P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 594766	NM_005989.4(AKR1D1):c.332T>C (p.Leu111Pro)	AKR1D1 (L111P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 594814	NM_005989.4(AKR1D1):c.336T>C (p.Asp112=)	AKR1D1	Single nucleotide variant (synonymous variant)	not provided	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 594629	NM_005989.4(AKR1D1):c.345T>A (p.Asp115Glu)	AKR1D1 (D115E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 358954	NM_005989.4(AKR1D1):c.346C>G (p.Leu116Val)	AKR1D1 (L116V)	Single nucleotide variant (missense variant)	Congenital bile acid synthesis defect 2	GUncertain significance
Select item 502743	NM_005989.4(AKR1D1):c.356T>C (p.Ile119Thr)	AKR1D1 (I119T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 289189	NM_005989.4(AKR1D1):c.378+6T>G	AKR1D1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1275978	NM_005989.4(AKR1D1):c.379-182A>G	AKR1D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3054291	NM_005989.4(AKR1D1):c.379-4dup	AKR1D1	Duplication (intron variant)	AKR1D1-related disorder	GLikely benign
Select item 3056985	NM_005989.4(AKR1D1):c.379-6_379-4del	AKR1D1	Deletion (intron variant)	AKR1D1-related disorder	GBenign
Select item 3052541	NM_005989.4(AKR1D1):c.379-7_379-4del	AKR1D1	Deletion (intron variant)	AKR1D1-related disorder	GLikely benign
Select item 1228091	NM_005989.4(AKR1D1):c.379-5_379-4del	AKR1D1	Deletion (intron variant)	not provided	GBenign
Select item 1175144	NM_005989.4(AKR1D1):c.379-4del	AKR1D1	Deletion (intron variant)	not provided	GBenign
Select item 3047755	NM_005989.4(AKR1D1):c.379-4T>C	AKR1D1	Single nucleotide variant (intron variant)	AKR1D1-related disorder	GLikely benign
Select item 289546	NM_005989.4(AKR1D1):c.380C>T (p.Pro127Leu)	AKR1D1 (P127L)	Single nucleotide variant (missense variant)	not provided +1 more	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 498037	NM_005989.4(AKR1D1):c.396C>T (p.Tyr132=)	AKR1D1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 5377	NM_005989.4(AKR1D1):c.398C>G (p.Pro133Arg)	AKR1D1 (P133R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 358955	NM_005989.4(AKR1D1):c.446C>T (p.Ala149Val)	AKR1D1 (A149V)	Single nucleotide variant (missense 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 1283351	NM_005989.4(AKR1D1):c.457-116G>T	AKR1D1	Single nucleotide variant (intron variant)	not provided	GBenign
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 259892	NM_005989.4(AKR1D1):c.477C>T (p.Asp159=)	AKR1D1	Single nucleotide variant (synonymous variant +1 more)	Congenital bile acid synthesis defect 2 +2 more	GBenign
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 593735	NM_005989.4(AKR1D1):c.494C>A (p.Ser165Tyr)	AKR1D1 (S165Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 594741	NM_005989.4(AKR1D1):c.542A>G (p.Asn181Ser)	AKR1D1 (N181S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 594487	NM_005989.4(AKR1D1):c.543C>G (p.Asn181Lys)	AKR1D1 (N181K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 289255	NM_005989.4(AKR1D1):c.558A>C (p.Lys186Asn)	AKR1D1 (K186N)	Single nucleotide variant (missense variant +1 more)	not provided	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 3054961	NM_005989.4(AKR1D1):c.579+6G>A	AKR1D1	Single nucleotide variant (intron variant)	AKR1D1-related disorder	GLikely benign
Select item 1988995	NM_005989.4(AKR1D1):c.580-11C>T	AKR1D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 501093	NM_005989.4(AKR1D1):c.580-1G>A	AKR1D1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 595370	NM_005989.4(AKR1D1):c.583G>T (p.Glu195Ter)	AKR1D1 (E195* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 3