AKR1B1[gene] - ClinVar

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

Search results

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
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 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	LOC129999373, LOC129999374 +492 more	Copy number loss	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	TRC-GCA9-3, TRC-GCA9-4 +1019 more	Copy number gain	See cases	GPathogenic
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 2209836	NM_001628.4(AKR1B1):c.655C>T (p.Pro219Ser)	AKR1B1, LOC126860187 (P75S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339658	NM_001628.4(AKR1B1):c.643T>C (p.Ser215Pro)	AKR1B1, LOC126860187 (S215P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 746098	NM_001628.4(AKR1B1):c.639C>T (p.Leu213=)	AKR1B1, LOC126860187	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3107581	NM_001628.4(AKR1B1):c.529A>G (p.Lys177Glu)	AKR1B1, LOC126860187 (K177E +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
Select item 3062992	GRCh37/hg19 7q31.31-33(chr7:120582003-137699953)x1	AASS, AGBL3 +100 more	Copy number loss	not specified	GPathogenic
Select item 2425346	NC_000007.13:g.(?_130781014)_(150301047_?)del	CTAGE6, CTAGE8 +141 more	Deletion	not provided	GPathogenic
Select item 1807754	GRCh37/hg19 7q32.3-36.1(chr7:131779213-149042734)x1	RAB19, RNY1 +123 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527402	GRCh37/hg19 7q33(chr7:134128369-134656514)	AKR1B1, AKR1B10 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1527395	GRCh37/hg19 7q32.1-34(chr7:127295698-139524358)	CHCHD3, CHRM2 +88 more	Copy number loss	not specified	GPathogenic
Select item 1527394	GRCh37/hg19 7q31.33-33(chr7:124103982-134693590)	BPGM, CALD1 +65 more	Copy number loss	not specified	GPathogenic
Select item 1341257	GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3	ABCB8, ABCF2 +186 more	Copy number gain	not provided	GPathogenic
Select item 1330183	GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1	EPHA1, EPHB6 +105 more	Copy number loss	Hypertelorism +7 more	GPathogenic
Select item 816507	GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1	ABCB8, ABCF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 689119	GRCh37/hg19 7q33(chr7:133895591-134317660)x1	AKR1B1, AKR1B10 +3 more	Copy number loss	not provided	GUncertain significance
Select item 688878	GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3	OR2A25, OR2A42 +192 more	Copy number gain	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic
Select item 617479	Single allele	DGKI, SVOPL +74 more	Complex	Renal transitional cell carcinoma	GLikely pathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563417	GRCh37/hg19 7q33(chr7:133230189-137972605)x1	AKR1B10, STRA8 +24 more	Copy number loss	not provided	GPathogenic
Select item 443243	GRCh37/hg19 7q33(chr7:133603973-134129003)x3	AKR1B1, EXOC4 +2 more	Copy number gain	See cases	GLikely benign
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395363	GRCh37/hg19 7q32.3-34(chr7:131642114-139107211)x1	AGBL3, AKR1B1 +38 more	Copy number loss	See cases	GPathogenic

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: 53