AEN[gene] - ClinVar

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Search results

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057806, LOC130057807 +1763 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	ABHD17C, ABHD2 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC130057831, LOC130057832 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	ABHD2, ACAN +630 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	LOC130057938, LOC130057939 +611 more	Copy number gain	See cases	GPathogenic
Select item 153554	GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3	ABHD2, ACAN +552 more	Copy number gain	See cases	GPathogenic
Select item 148189	GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	LOC121530602, LOC121530603 +517 more	Copy number gain	See cases	GPathogenic
Select item 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	LOC129390732, LOC129390733 +500 more	Copy number gain	See cases	GPathogenic
Select item 2262159	NM_022767.4(AEN):c.28G>T (p.Ala10Ser)	AEN (A10S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459712	NM_022767.4(AEN):c.80G>A (p.Arg27Gln)	AEN (R27Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091582	NM_022767.4(AEN):c.85A>G (p.Arg29Gly)	AEN (R29G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372307	NM_022767.4(AEN):c.115C>T (p.Arg39Trp)	AEN (R39W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570287	NM_022767.4(AEN):c.116G>A (p.Arg39Gln)	AEN (R39Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403268	NM_022767.4(AEN):c.133G>T (p.Ala45Ser)	AEN (A45S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336536	NM_022767.4(AEN):c.224A>T (p.Glu75Val)	AEN (E75V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552330	NM_022767.4(AEN):c.289C>T (p.Pro97Ser)	AEN (P97S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091534	NM_022767.4(AEN):c.364C>T (p.Pro122Ser)	AEN (P122S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377081	NM_022767.4(AEN):c.391C>T (p.Arg131Cys)	AEN (R131C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205910	NM_022767.4(AEN):c.439A>C (p.Ile147Leu)	AEN (I147L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091540	NM_022767.4(AEN):c.451A>T (p.Met151Leu)	AEN (M151L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306357	NM_022767.4(AEN):c.457A>G (p.Ile153Val)	AEN (I153V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214381	NM_022767.4(AEN):c.602C>T (p.Ala201Val)	AEN (A201V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483629	NM_022767.4(AEN):c.623G>A (p.Arg208Gln)	AEN (R208Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464202	NM_022767.4(AEN):c.673G>C (p.Gly225Arg)	AEN (G225R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091556	NM_022767.4(AEN):c.685C>T (p.Arg229Trp)	AEN (R229W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091557	NM_022767.4(AEN):c.688G>A (p.Ala230Thr)	AEN (A230T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3091563	NM_022767.4(AEN):c.716T>C (p.Leu239Pro)	AEN (L239P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091572	NM_022767.4(AEN):c.826C>G (p.Gln276Glu)	AEN (Q276E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320700	NM_022767.4(AEN):c.835C>G (p.Arg279Gly)	AEN (R279G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224835	NM_022767.4(AEN):c.839G>C (p.Ser280Thr)	AEN (S280T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380382	NM_022767.4(AEN):c.904G>T (p.Asp302Tyr)	AEN (D302Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240223	NM_022767.4(AEN):c.933C>A (p.His311Gln)	AEN (H311Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2240224	NM_022767.4(AEN):c.934G>C (p.Gly312Arg)	AEN (G312R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2498631	GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3	IDH2, IGF1R +86 more	Copy number gain	not provided	GPathogenic
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	BLM, BNC1 +209 more	Copy number gain	not provided	GPathogenic
Select item 1809424	GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3	ABHD17C, ABHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 1328111	GRCh37/hg19 15q25.3-26.2(chr15:88465861-94411846)x1	ABHD2, ACAN +50 more	Copy number loss	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 983158	GRCh37/hg19 15q25.3-26.3(chr15:86962053-102531392)x1	ABHD2, ACAN +77 more	Copy number loss	See cases	GPathogenic
Select item 815743	GRCh37/hg19 15q25.3-26.3(chr15:87189245-102429112)x1	ABHD2, ACAN +76 more	Copy number loss	not provided	GPathogenic
Select item 625751	GRCh37/hg19 15q25.2-26.1(chr15:83883823-92165844)	ABHD2, ACAN +58 more	Copy number loss	not provided	GPathogenic
Select item 564221	GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3	ABHD17C, ABHD2 +143 more	Copy number gain	not provided	GPathogenic
Select item 564214	GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3	ABHD17C, ABHD2 +215 more	Copy number gain	not provided	GPathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 443650	GRCh37/hg19 15q25.3-26.3(chr15:86899001-98734014)x3	ABHD2, ACAN +55 more	Copy number gain	See cases	GLikely pathogenic
Select item 443269	GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3	ABHD17C, ABHD2 +153 more	Copy number gain	See cases	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 395560	GRCh37/hg19 15q25.3-26.3(chr15:86148286-102511616)x3	ABHD2, ACAN +79 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CSK, CSNK1G1 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	TRPM7, TSPAN3 +444 more	Copy number gain	See cases	GPathogenic
Select item 394871	GRCh37/hg19 15q25.2-26.3(chr15:85089467-102495441)x3	ABHD2, ACAN +87 more	Copy number gain	See cases	GPathogenic
Select item 393972	GRCh37/hg19 15q25.3-26.1(chr15:88295992-94215607)x1	FANCI, FES +50 more	Copy number loss	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	SLC24A1, SLC28A1 +310 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +279 more	Copy number gain	See cases	GPathogenic

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Items: 56