AKR1A1[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 145560	GRCh38/hg38 1p34.1(chr1:44962358-45585262)x3	AKR1A1, CCDC163 +48 more	Copy number gain	See cases	GUncertain significance
Select item 57754	GRCh38/hg38 1p34.1(chr1:45402871-45603348)x3	AKR1A1, CCDC163 +22 more	Copy number gain	See cases	GUncertain significance
Select item 57383	GRCh38/hg38 1p34.1(chr1:45440264-45869574)x3	AKR1A1, CCDC163 +34 more	Copy number gain	See cases	GUncertain significance
Select item 152740	GRCh38/hg38 1p34.1(chr1:45469848-46220805)x3	AKR1A1, CCDC163 +53 more	Copy number gain	See cases	GLikely benign
Select item 148588	GRCh38/hg38 1p34.1(chr1:45488251-46220805)x3	AKR1A1, CCDC163 +52 more	Copy number gain	See cases	GUncertain significance
Select item 2495713	NM_153326.3(AKR1A1):c.43C>T (p.Pro15Ser)	AKR1A1 (P15S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282609	NM_153326.3(AKR1A1):c.125G>A (p.Arg42His)	AKR1A1 (R42H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 748110	NM_153326.3(AKR1A1):c.150C>T (p.Tyr50=)	AKR1A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 775053	NM_153326.3(AKR1A1):c.151G>A (p.Gly51Ser)	AKR1A1 (G51S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3107515	NM_153326.3(AKR1A1):c.167T>C (p.Ile56Thr)	AKR1A1 (I56T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205512	NM_153326.3(AKR1A1):c.206C>T (p.Ala69Val)	AKR1A1 (A69V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477321	NM_153326.3(AKR1A1):c.291G>C (p.Lys97Asn)	AKR1A1 (K97N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107530	NM_153326.3(AKR1A1):c.443A>T (p.Glu148Val)	AKR1A1 (E148V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107534	NM_153326.3(AKR1A1):c.488A>G (p.Asn163Ser)	AKR1A1 (N163S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279113	NM_153326.3(AKR1A1):c.614T>C (p.Leu205Pro)	AKR1A1 (L205P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342919	NM_153326.3(AKR1A1):c.697G>A (p.Val233Ile)	AKR1A1 (V233I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107548	NM_153326.3(AKR1A1):c.795C>G (p.Ile265Met)	AKR1A1 (I265M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303438	NM_153326.3(AKR1A1):c.803C>T (p.Ser268Phe)	AKR1A1 (S268F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284992	NM_153326.3(AKR1A1):c.846C>A (p.Ser282Arg)	AKR1A1 (S282R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107559	NM_153326.3(AKR1A1):c.877A>T (p.Asn293Tyr)	AKR1A1 (N293Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 153233	GRCh38/hg38 1p34.1(chr1:45569797-46183208)x3	AKR1A1, CCDC17 +32 more	Copy number gain	See cases	GUncertain significance
Select item 781662	NM_153326.3(AKR1A1):c.913-10C>G	AKR1A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2638792	NM_153326.3(AKR1A1):c.921G>A (p.Gly307=)	AKR1A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2337484	NM_153326.3(AKR1A1):c.949C>T (p.Pro317Ser)	AKR1A1 (P317S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063121	GRCh37/hg19 1p34.1(chr1:45857175-46077062)x3	AKR1A1, MMACHC +3 more	Copy number gain	not specified	GUncertain significance
Select item 2425557	NC_000001.10:g.(?_44257753)_(46663493_?)dup	AKR1A1, ARMH1 +39 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1684561	GRCh37/hg19 1p34.1(chr1:44346001-46332161)x3	AKR1A1, ARMH1 +36 more	Copy number gain	See cases	GUncertain significance
Select item 1526949	GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)	AGBL4, AKR1A1 +58 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 561978	GRCh37/hg19 1p34.1(chr1:45923445-46017520)x1	TESK2, MMACHC +2 more	Copy number loss	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441702	GRCh37/hg19 1p34.1(chr1:45715667-46501705)x3	AKR1A1, CCDC17 +11 more	Copy number gain	See cases	GUncertain significance
Select item 253787	GRCh37/hg19 1p34.1(chr1:45953923-46126722)x3	AKR1A1, CCDC17 +5 more	Copy number gain	See cases	GUncertain significance

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Items: 37