"AKR1C4-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3049791	NM_001818.5(AKR1C4):c.18G>A (p.Gln6=)	AKR1C4	Single nucleotide variant (synonymous variant)	AKR1C4-related condition	GLikely benign
Select item 3052203	NM_001818.5(AKR1C4):c.42C>G (p.His14Gln)	AKR1C4 (H14Q)	Single nucleotide variant (missense variant)	AKR1C4-related condition	GLikely benign
Select item 3055659	NM_001818.5(AKR1C4):c.85-103C>T	AKR1C4	Single nucleotide variant (intron variant)	AKR1C4-related condition	GLikely benign
Select item 3034155	NM_001818.5(AKR1C4):c.85-98C>G	AKR1C4	Single nucleotide variant (intron variant)	AKR1C4-related condition	GLikely benign
Select item 3036762	NM_001818.5(AKR1C4):c.127G>A (p.Glu43Lys)	AKR1C4 (E43K)	Single nucleotide variant (missense variant)	AKR1C4-related condition	GUncertain significance
Select item 2053467	NM_001818.5(AKR1C4):c.166AAT[1] (p.Asn57del)	AKR1C4 (N57del)	Microsatellite (inframe_deletion)	AKR1C4-related condition +1 more	GLikely benign
Select item 2636044	NM_001818.5(AKR1C4):c.172G>A (p.Glu58Lys)	AKR1C4 (E58K)	Single nucleotide variant (missense variant)	AKR1C4-related condition	GUncertain significance
Select item 3054633	NM_001818.5(AKR1C4):c.216C>T (p.Gly72=)	AKR1C4	Single nucleotide variant (synonymous variant)	AKR1C4-related condition	GLikely benign
Select item 2057338	NM_001818.5(AKR1C4):c.227G>C (p.Arg76Thr)	AKR1C4 (R76T)	Single nucleotide variant (missense variant)	AKR1C4-related condition +1 more	GLikely benign
Select item 2891083	NM_001818.5(AKR1C4):c.380C>T (p.Thr127Met)	AKR1C4 (T127M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2634475	NM_001818.5(AKR1C4):c.388C>A (p.Pro130Thr)	AKR1C4 (P130T)	Single nucleotide variant (missense variant)	AKR1C4-related condition	GUncertain significance
Select item 789027	NM_001818.5(AKR1C4):c.404G>A (p.Gly135Glu)	AKR1C4 (G135E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2713434	NM_001818.5(AKR1C4):c.544C>G (p.Leu182Val)	AKR1C4 (L182V)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 779104	NM_001818.5(AKR1C4):c.727G>A (p.Ala243Thr)	AKR1C4 (A243T)	Single nucleotide variant (missense variant)	AKR1C4-related condition +1 more	GBenign
Select item 3054357	NM_001818.5(AKR1C4):c.774C>T (p.Arg258=)	AKR1C4	Single nucleotide variant (synonymous variant)	AKR1C4-related condition	GLikely benign
Select item 3029605	NM_001818.5(AKR1C4):c.847-8T>C	AKR1C4	Single nucleotide variant (intron variant)	AKR1C4-related condition	GLikely benign
Select item 3051883	NM_001818.5(AKR1C4):c.923T>A (p.Met308Lys)	AKR1C4 (M308K)	Single nucleotide variant (missense variant)	AKR1C4-related condition	GUncertain significance
Select item 3031442	NM_001818.5(AKR1C4):c.939C>T (p.Asp313=)	AKR1C4	Single nucleotide variant (synonymous variant)	AKR1C4-related condition	GLikely benign
Select item 3029678	NM_001818.5(AKR1C4):c.963T>C (p.Asp321=)	AKR1C4	Single nucleotide variant (synonymous variant)	AKR1C4-related condition	GLikely benign