AKR1B15[gene] - ClinVar

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Items: 61

	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 3107640	NM_001080538.3(AKR1B15):c.155T>G (p.Leu52Arg)	AKR1B15 (L24R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224959	NM_001080538.3(AKR1B15):c.163A>G (p.Lys55Glu)	AKR1B15 (K55E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508334	NM_001080538.3(AKR1B15):c.167T>C (p.Val56Ala)	AKR1B15 (V28A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408085	NM_001080538.3(AKR1B15):c.176C>T (p.Ala59Val)	AKR1B15 (A31V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282619	NM_001080538.3(AKR1B15):c.206G>A (p.Arg69His)	AKR1B15 (R69H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 784119	NM_001080538.3(AKR1B15):c.255A>G (p.Glu85=)	AKR1B15	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3282649	NM_001080538.3(AKR1B15):c.295G>A (p.Glu99Lys)	AKR1B15 (E71K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 717221	NM_001080538.3(AKR1B15):c.307A>G (p.Ile103Val)	AKR1B15 (I103V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2264602	NM_001080538.3(AKR1B15):c.310G>A (p.Val104Ile)	AKR1B15 (V104I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536044	NM_001080538.3(AKR1B15):c.338A>C (p.Glu113Ala)	AKR1B15 (E113A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615587	NM_001080538.3(AKR1B15):c.407A>G (p.Tyr136Cys)	AKR1B15 (Y108C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282647	NM_001080538.3(AKR1B15):c.425A>G (p.Gln142Arg)	AKR1B15 (Q142R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 773498	NM_001080538.3(AKR1B15):c.495G>A (p.Thr165=)	AKR1B15	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3107652	NM_001080538.3(AKR1B15):c.517A>G (p.Met173Val)	AKR1B15 (M145V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405637	NM_001080538.3(AKR1B15):c.535G>A (p.Glu179Lys)	AKR1B15 (E151K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368655	NM_001080538.3(AKR1B15):c.586G>A (p.Glu196Lys)	AKR1B15 (E196K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543252	NM_001080538.3(AKR1B15):c.604C>G (p.Pro202Ala)	AKR1B15 (P174A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107659	NM_001080538.3(AKR1B15):c.692A>C (p.Lys231Thr)	AKR1B15 (K203T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282630	NM_001080538.3(AKR1B15):c.731C>T (p.Pro244Leu)	AKR1B15 (P244L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364916	NM_001080538.3(AKR1B15):c.815C>A (p.Thr272Asn)	AKR1B15 (T244N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282641	NM_001080538.3(AKR1B15):c.821C>G (p.Ala274Gly)	AKR1B15 (A274G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206174	NM_001080538.3(AKR1B15):c.836G>A (p.Arg279His)	AKR1B15 (R251H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545734	NM_001080538.3(AKR1B15):c.862G>T (p.Val288Leu)	AKR1B15 (V260L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107674	NM_001080538.3(AKR1B15):c.881C>T (p.Thr294Ile)	AKR1B15 (T266I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241676	NM_001080538.3(AKR1B15):c.892A>C (p.Ile298Leu)	AKR1B15 (I298L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331775	NM_001080538.3(AKR1B15):c.902A>G (p.Asn301Ser)	AKR1B15 (N273S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712007	NM_001080538.3(AKR1B15):c.909+10C>T	AKR1B15	Single nucleotide variant (intron variant)	not provided	GBenign
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 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

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Items: 61