"GeneDx"[submitter] AND "AKR1D1"[gene] - ClinVar

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

Search results

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 60298	GRCh38/hg38 7q33-34(chr7:137741740-139688885)x1	AKR1D1, ATP6V0A4 +88 more	Copy number loss	See cases	GPathogenic
Select item 1280935	NM_005989.4(AKR1D1):c.94-56T>G	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 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 1275978	NM_005989.4(AKR1D1):c.379-182A>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 1175144	NM_005989.4(AKR1D1):c.379-4del	AKR1D1	Deletion (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 5374	NM_005989.4(AKR1D1):c.593C>T (p.Pro198Leu)	AKR1D1 (P198L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1290624	NM_005989.4(AKR1D1):c.689+311A>C	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 1276247	NM_005989.4(AKR1D1):c.856-189C>G	AKR1D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 259894	NM_005989.4(AKR1D1):c.856-10G>A	AKR1D1	Single nucleotide variant (intron variant)	Congenital bile acid synthesis defect 2 +2 more	GBenign
Select item 1250925	NM_005989.4(AKR1D1):c.938+75A>T	AKR1D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 259891	NM_005989.4(AKR1D1):c.*5A>C	AKR1D1	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GBenign
Select item 358956	NM_005989.4(AKR1D1):c.*36C>T	AKR1D1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 24