AKR1B10[gene] - ClinVar

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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 2269784	NM_020299.5(AKR1B10):c.58A>C (p.Thr20Pro)	AKR1B10 (T20P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107603	NM_020299.5(AKR1B10):c.226G>A (p.Val76Ile)	AKR1B10 (V76I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455215	NM_020299.5(AKR1B10):c.332A>G (p.His111Arg)	AKR1B10 (H111R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471811	NM_020299.5(AKR1B10):c.391G>A (p.Ala131Thr)	AKR1B10 (A131T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289159	NM_020299.5(AKR1B10):c.410C>T (p.Thr137Met)	AKR1B10 (T137M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217630	NM_020299.5(AKR1B10):c.431C>T (p.Ala144Val)	AKR1B10 (A144V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459496	NM_020299.5(AKR1B10):c.488G>A (p.Ser163Asn)	AKR1B10 (S163N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2232999	NM_020299.5(AKR1B10):c.498G>T (p.Gln166His)	AKR1B10 (Q166H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025739	NM_020299.5(AKR1B10):c.666G>A (p.Lys222=)	AKR1B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025740	NM_020299.5(AKR1B10):c.669A>T (p.Pro223=)	AKR1B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025741	NM_020299.5(AKR1B10):c.672A>G (p.Glu224=)	AKR1B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2391940	NM_020299.5(AKR1B10):c.752G>A (p.Arg251His)	AKR1B10 (R251H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229200	NM_020299.5(AKR1B10):c.758A>G (p.His253Arg)	AKR1B10 (H253R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391136	NM_020299.5(AKR1B10):c.778G>T (p.Val260Phe)	AKR1B10 (V260F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107627	NM_020299.5(AKR1B10):c.789G>C (p.Lys263Asn)	AKR1B10 (K263N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317522	NM_020299.5(AKR1B10):c.803C>A (p.Ala268Glu)	AKR1B10 (A268E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107633	NM_020299.5(AKR1B10):c.824A>G (p.Gln275Arg)	AKR1B10 (Q275R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384242	NM_020299.5(AKR1B10):c.898A>G (p.Asn300Asp)	AKR1B10 (N300D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384243	NM_020299.5(AKR1B10):c.907C>G (p.Gln303Glu)	AKR1B10 (Q303E)	Single nucleotide variant (missense variant)	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 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: 53