ClinVar for Gene (Select 8574) - ClinVar

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Links from Gene

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3282845	NM_003689.4(AKR7A2):c.758G>C (p.Gly253Ala)	AKR7A2 (G253A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282834	NM_003689.4(AKR7A2):c.242A>G (p.Gln81Arg)	AKR7A2 (Q81R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282823	NM_003689.4(AKR7A2):c.92C>A (p.Ser31Tyr)	AKR7A2 (S31Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282813	NM_003689.4(AKR7A2):c.550C>T (p.Leu184Phe)	AKR7A2 (L184F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3108099	NM_003689.4(AKR7A2):c.826G>C (p.Val276Leu)	AKR7A2 (V241L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108093	NM_003689.4(AKR7A2):c.7A>C (p.Ser3Arg)	AKR7A2 (S3R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3108088	NM_003689.4(AKR7A2):c.730G>A (p.Gly244Arg)	AKR7A2 (G244R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108083	NM_003689.4(AKR7A2):c.724A>G (p.Lys242Glu)	AKR7A2 (K207E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108074	NM_003689.4(AKR7A2):c.584T>A (p.Val195Glu)	AKR7A2 (V195E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108062	NM_003689.4(AKR7A2):c.37G>A (p.Ala13Thr)	AKR7A2 (A13T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108057	NM_003689.4(AKR7A2):c.197G>T (p.Arg66Leu)	AKR7A2 (R66L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108047	NM_003689.4(AKR7A2):c.1010C>T (p.Pro337Leu)	AKR7A2 (P302L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062822	GRCh37/hg19 1p36.21-36.12(chr1:16194137-20561434)x1	ACTL8, AKR7A2 +58 more	Copy number loss	not specified	GPathogenic
Select item 2685797	GRCh37/hg19 1p36.13(chr1:18127009-20315260)x3	ACTL8, AKR7A2 +22 more	Copy number gain	not provided	GUncertain significance
Select item 2685031	GRCh37/hg19 1p36.13-36.12(chr1:17291707-23016395)x4	ACTL8, AKR7A2 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2556777	NM_003689.4(AKR7A2):c.443C>A (p.Pro148Gln)	AKR7A2 (P148Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544958	NM_003689.4(AKR7A2):c.1076G>A (p.Arg359His)	AKR7A2 (R359H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543193	NM_003689.4(AKR7A2):c.556A>C (p.Lys186Gln)	AKR7A2 (K186Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542489	NM_003689.4(AKR7A2):c.935C>G (p.Ala312Gly)	AKR7A2 (A277G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508816	NM_003689.4(AKR7A2):c.374C>T (p.Thr125Met)	AKR7A2 (T125M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2424757	NC_000001.10:g.(?_19199339)_(22987879_?)dup	AKR7A2, AKR7A3 +49 more	Duplication	Hyperprolinemia type 2 +2 more	GUncertain significance
Select item 2422561	NC_000001.10:g.(?_19199339)_(24690861_?)dup	AKR7A2, AKR7A3 +77 more	Duplication	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 2392075	NM_003689.4(AKR7A2):c.115G>T (p.Ala39Ser)	AKR7A2 (A39S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376775	NM_003689.4(AKR7A2):c.443C>T (p.Pro148Leu)	AKR7A2 (P148L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368375	NM_003689.4(AKR7A2):c.614G>A (p.Arg205Gln)	AKR7A2 (R170Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331198	NM_003689.4(AKR7A2):c.76C>T (p.Arg26Cys)	AKR7A2 (R26C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282355	NM_003689.4(AKR7A2):c.25G>T (p.Val9Phe)	AKR7A2 (V9F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262049	NM_003689.4(AKR7A2):c.716A>G (p.Tyr239Cys)	AKR7A2 (Y239C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247085	NM_003689.4(AKR7A2):c.10G>T (p.Ala4Ser)	AKR7A2 (A4S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238513	NM_003689.4(AKR7A2):c.425C>T (p.Ala142Val)	AKR7A2 (A142V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224429	NM_003689.4(AKR7A2):c.44A>G (p.His15Arg)	AKR7A2 (H15R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2210666	NM_003689.4(AKR7A2):c.857C>T (p.Ala286Val)	AKR7A2 (A251V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1340990	GRCh37/hg19 1p36.13(chr1:16773001-20221073)x1	ACTL8, AKR7A2 +38 more	Copy number loss	not provided	GPathogenic
Select item 1228381	GRCh37/hg19 1p36.13-36.12(chr1:16785250-23491592)x1	FAM43B, HP1BP3 +77 more	Copy number loss	1p36.1 deletion syndrome	GPathogenic
Select item 980392	GRCh37/hg19 1p36.21-36.12(chr1:16041431-21295864)x1	EMC1, EPHA2 +73 more	Copy number loss	not provided	GPathogenic
Select item 980391	GRCh37/hg19 1p36.13-36.12(chr1:17284906-21778495)x1	AKR7A3, AKR7L +51 more	Copy number loss	not provided	GPathogenic
Select item 788501	NM_003689.4(AKR7A2):c.538G>A (p.Glu180Lys)	AKR7A2 (E180K)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 221359	chr1:17555508-24706269 complex variant	ACTL8, AKR7A2 +88 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 152815	GRCh38/hg38 1p36.13(chr1:19169253-19797307)x3	AKR7A2, AKR7A3 +39 more	Copy number gain	See cases	GLikely benign
Select item 152221	GRCh38/hg38 1p36.13(chr1:19169253-19415934)x1	AKR7A2, AKR7A3 +18 more	Copy number loss	See cases	GUncertain significance
Select item 149010	GRCh38/hg38 1p36.21-36.13(chr1:15681812-19662339)x1	LOC126805640, LOC126805641 +206 more	Copy number loss	See cases	GPathogenic
Select item 59922	GRCh38/hg38 1p36.13(chr1:19093306-20063342)x1	AKR7A2, AKR7A3 +57 more	Copy number loss	See cases	GPathogenic
Select item 59918	GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1	EMC1-AS1, FAM43B +221 more	Copy number loss	See cases	GPathogenic
Select item 57443	GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1	ACTL8, AGMAT +303 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 51