"AKR1D1-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 596197	NM_005989.4(AKR1D1):c.24C>T (p.His8=)	AKR1D1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 500826	NM_005989.4(AKR1D1):c.49A>G (p.Ser17Gly)	AKR1D1 (S17G)	Single nucleotide variant (missense variant)	AKR1D1-related disorder +2 more	GConflicting classifications of pathogenicity
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 3048250	NM_005989.4(AKR1D1):c.186C>T (p.His62=)	AKR1D1	Single nucleotide variant (synonymous variant)	AKR1D1-related disorder	GLikely benign
Select item 594307	NM_005989.4(AKR1D1):c.233G>A (p.Arg78Gln)	AKR1D1 (R78Q)	Single nucleotide variant (missense variant)	AKR1D1-related disorder +1 more	GUncertain significance
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 3047755	NM_005989.4(AKR1D1):c.379-4T>C	AKR1D1	Single nucleotide variant (intron variant)	AKR1D1-related disorder	GLikely benign
Select item 498037	NM_005989.4(AKR1D1):c.396C>T (p.Tyr132=)	AKR1D1	Single nucleotide variant (synonymous variant)	AKR1D1-related disorder +1 more	GConflicting classifications of pathogenicity
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 501093	NM_005989.4(AKR1D1):c.580-1G>A	AKR1D1	Single nucleotide variant (splice acceptor variant)	AKR1D1-related disorder +1 more	GLikely pathogenic
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 3030499	NM_005989.4(AKR1D1):c.938+9C>T	AKR1D1	Single nucleotide variant (intron variant)	AKR1D1-related disorder	GLikely benign