ClinVar for Gene (Select 55070) - ClinVar

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Links from Gene

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3081807	NM_001144074.3(DET1):c.761G>A (p.Arg254Gln)	DET1 (R220Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081806	NM_001144074.3(DET1):c.647T>C (p.Leu216Ser)	DET1 (L182S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081805	NM_001144074.3(DET1):c.524G>A (p.Arg175Gln)	DET1 (R141Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081804	NM_001144074.3(DET1):c.367C>T (p.Arg123Cys)	DET1 (R123C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081803	NM_001144074.3(DET1):c.359T>C (p.Leu120Pro)	DET1 (L120P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081802	NM_001144074.3(DET1):c.350G>A (p.Arg117Gln)	DET1 (R117Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081801	NM_001144074.3(DET1):c.332A>T (p.Gln111Leu)	DET1 (Q122L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081800	NM_001144074.3(DET1):c.1634T>A (p.Met545Lys)	DET1 (M511K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081799	NM_001144074.3(DET1):c.1575T>A (p.Phe525Leu)	DET1 (F536L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081798	NM_001144074.3(DET1):c.1272G>A (p.Arg424=)	DET1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3081797	NM_001144074.3(DET1):c.1150G>C (p.Asp384His)	DET1 (D384H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081796	NM_001144074.3(DET1):c.1100T>C (p.Val367Ala)	DET1 (V378A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081795	NM_001144074.3(DET1):c.71G>A (p.Arg24His)	DET1 (R24H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081794	NM_001144074.3(DET1):c.70C>T (p.Arg24Cys)	DET1 (R35C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2645669	NM_001144074.3(DET1):c.600C>T (p.Thr200=)	DET1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2645668	NM_001144074.3(DET1):c.1116G>A (p.Thr372=)	DET1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2645667	NM_001144074.3(DET1):c.1221G>A (p.Gln407=)	DET1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2604135	NM_001144074.3(DET1):c.1108A>C (p.Met370Leu)	DET1 (M336L +2 more)	Single nucleotide variant (missense variant +1 more)	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 2556234	NM_001144074.3(DET1):c.625T>G (p.Phe209Val)	DET1 (F220V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555309	NM_001144074.3(DET1):c.356G>A (p.Arg119Gln)	DET1 (R119Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2469572	NM_001144074.3(DET1):c.355C>T (p.Arg119Trp)	DET1 (R119W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458031	NM_001144074.3(DET1):c.551C>A (p.Pro184Gln)	DET1 (P195Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407964	NM_001144074.3(DET1):c.1369G>A (p.Gly457Ser)	DET1 (G423S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395065	NM_001144074.3(DET1):c.74G>A (p.Arg25Gln)	DET1 (R25Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377631	NM_001144074.3(DET1):c.1115C>T (p.Thr372Met)	DET1 (T338M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367882	NM_001144074.3(DET1):c.1247A>T (p.Asn416Ile)	DET1 (N427I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351574	NM_001144074.3(DET1):c.62G>A (p.Arg21His)	DET1 (R32H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331701	NM_001144074.3(DET1):c.696G>C (p.Leu232Phe)	DET1 (L232F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319667	NM_001144074.3(DET1):c.897G>T (p.Leu299Phe)	DET1 (L299F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285384	NM_001144074.3(DET1):c.1164G>C (p.Glu388Asp)	DET1 (E354D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283031	NM_001144074.3(DET1):c.836G>C (p.Ser279Thr)	DET1 (S279T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267756	NM_001144074.3(DET1):c.913C>T (p.Arg305Cys)	DET1 (R305C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257479	NM_001144074.3(DET1):c.1013A>T (p.Asp338Val)	DET1 (D304V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253086	NM_001144074.3(DET1):c.478G>C (p.Ala160Pro)	DET1 (A160P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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	ARPIN-AP3S2, COMMD4 +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
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	ABHD17C, ABHD2 +1244 more	Copy number gain	See cases	GPathogenic
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 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 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 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	LOC129390732, LOC129390733 +500 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

ClinVar

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Germline classification

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Links from Gene

Items: 65