AKR1B1[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 782748	NM_001628.4(AKR1B1):c.936C>T (p.Phe312=)	AKR1B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 731023	NM_001628.4(AKR1B1):c.864C>T (p.Thr288=)	AKR1B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2291861	NM_001628.4(AKR1B1):c.803A>G (p.Glu268Gly)	AKR1B1 (E268G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407931	NM_001628.4(AKR1B1):c.787A>G (p.Lys263Glu)	AKR1B1 (K263E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 777632	NM_001628.4(AKR1B1):c.720G>A (p.Lys240=)	AKR1B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2556996	NM_001628.4(AKR1B1):c.703A>G (p.Lys235Glu)	AKR1B1 (K91E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 770191	NM_001628.4(AKR1B1):c.429+6A>G	AKR1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 783507	NM_001628.4(AKR1B1):c.423G>A (p.Thr141=)	AKR1B1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 781914	NM_001628.4(AKR1B1):c.384G>A (p.Ser128=)	AKR1B1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2206429	NM_001628.4(AKR1B1):c.325C>G (p.Leu109Val)	AKR1B1 (L109V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 712685	NM_001628.4(AKR1B1):c.294C>T (p.Ser98=)	AKR1B1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 2301109	NM_001628.4(AKR1B1):c.226G>A (p.Val76Ile)	AKR1B1 (V76I)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2551161	NM_001628.4(AKR1B1):c.185A>G (p.Lys62Arg)	AKR1B1 (K62R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2383588	NM_001628.4(AKR1B1):c.86C>T (p.Thr29Ile)	AKR1B1 (T29I)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance