25953[HGNC] - ClinVar

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Search results

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57881	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1	ADAM10, ALDH1A2 +287 more	Copy number loss	See cases	GPathogenic
Select item 147481	GRCh38/hg38 15q21.2-21.3(chr15:51276690-57088386)x1	ARPP19, ATOSA +176 more	Copy number loss	See cases	GPathogenic
Select item 17824	NC_000015.10:g.(51338597_?)_(?_57376504)inv	LOC105370829, LOC108281154 +179 more	Inversion	Aromatase excess syndrome	GPathogenic
Select item 3194882	NM_017661.4(ZNF280D):c.2936G>A (p.Ser979Asn)	ZNF280D (S966N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548074	NM_017661.4(ZNF280D):c.2849T>C (p.Val950Ala)	ZNF280D (V937A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335363	NM_017661.4(ZNF280D):c.2682T>A (p.Asp894Glu)	ZNF280D (D881E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412452	NM_017661.4(ZNF280D):c.2675G>A (p.Ser892Asn)	ZNF280D (S892N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335362	NM_017661.4(ZNF280D):c.2669A>G (p.Asn890Ser)	ZNF280D (N890S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270127	NM_017661.4(ZNF280D):c.2647G>C (p.Asp883His)	ZNF280D (D870H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335359	NM_017661.4(ZNF280D):c.2643T>G (p.Ile881Met)	ZNF280D (I868M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313482	NM_017661.4(ZNF280D):c.2440C>G (p.Leu814Val)	ZNF280D (L801V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365318	NM_017661.4(ZNF280D):c.2417C>T (p.Ser806Leu)	ZNF280D (S793L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194881	NM_017661.4(ZNF280D):c.2316T>C (p.Ser772=)	ZNF280D	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3194880	NM_017661.4(ZNF280D):c.2191C>T (p.Pro731Ser)	ZNF280D (P718S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194879	NM_017661.4(ZNF280D):c.2190C>G (p.Ile730Met)	ZNF280D (I717M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335364	NM_017661.4(ZNF280D):c.2144A>G (p.Lys715Arg)	ZNF280D (K715R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618449	NM_017661.4(ZNF280D):c.2084G>A (p.Cys695Tyr)	ZNF280D (C682Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302808	NM_017661.4(ZNF280D):c.2039A>G (p.Lys680Arg)	ZNF280D (K680R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194877	NM_017661.4(ZNF280D):c.1961G>A (p.Ser654Asn)	ZNF280D (S641N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321139	NM_017661.4(ZNF280D):c.1925C>T (p.Thr642Met)	ZNF280D (T629M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194876	NM_017661.4(ZNF280D):c.1892C>A (p.Ser631Tyr)	ZNF280D (S631Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356457	NM_017661.4(ZNF280D):c.1880T>C (p.Ile627Thr)	ZNF280D (I614T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512932	NM_017661.4(ZNF280D):c.1861C>T (p.Arg621Trp)	ZNF280D (R621W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194875	NM_017661.4(ZNF280D):c.1820A>G (p.Lys607Arg)	ZNF280D (K607R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335360	NM_017661.4(ZNF280D):c.1699A>G (p.Thr567Ala)	ZNF280D (T554A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321714	NM_017661.4(ZNF280D):c.1640C>A (p.Pro547Gln)	ZNF280D (P534Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591241	NM_017661.4(ZNF280D):c.1624C>T (p.Leu542Phe)	ZNF280D (L529F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527070	NM_017661.4(ZNF280D):c.1603A>G (p.Ile535Val)	ZNF280D (I522V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514528	NM_017661.4(ZNF280D):c.1491C>G (p.His497Gln)	ZNF280D (H484Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619755	NM_017661.4(ZNF280D):c.1462A>C (p.Lys488Gln)	ZNF280D (K488Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410965	NM_017661.4(ZNF280D):c.1378A>G (p.Thr460Ala)	ZNF280D (T447A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536538	NM_017661.4(ZNF280D):c.1316C>T (p.Thr439Ile)	ZNF280D (T439I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404523	NM_017661.4(ZNF280D):c.1264G>A (p.Val422Ile)	ZNF280D (V409I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194874	NM_017661.4(ZNF280D):c.1203T>A (p.His401Gln)	ZNF280D (H388Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194888	NM_017661.4(ZNF280D):c.955A>G (p.Thr319Ala)	ZNF280D (T319A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335361	NM_017661.4(ZNF280D):c.943C>A (p.Gln315Lys)	ZNF280D (Q302K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194887	NM_017661.4(ZNF280D):c.885G>C (p.Leu295Phe)	ZNF280D (L282F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559861	NM_017661.4(ZNF280D):c.862A>G (p.Ile288Val)	ZNF280D (I288V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2265102	NM_017661.4(ZNF280D):c.853A>G (p.Asn285Asp)	ZNF280D (N272D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487239	NM_017661.4(ZNF280D):c.829G>C (p.Glu277Gln)	ZNF280D (E264Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194886	NM_017661.4(ZNF280D):c.820G>C (p.Ala274Pro)	ZNF280D (A261P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194885	NM_017661.4(ZNF280D):c.761C>T (p.Pro254Leu)	ZNF280D (P254L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194884	NM_017661.4(ZNF280D):c.739A>T (p.Ile247Phe)	ZNF280D (I234F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535024	NM_017661.4(ZNF280D):c.709C>G (p.Pro237Ala)	ZNF280D (P224A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473249	NM_017661.4(ZNF280D):c.688A>G (p.Asn230Asp)	ZNF280D (N217D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393993	NM_017661.4(ZNF280D):c.656C>G (p.Ala219Gly)	ZNF280D (A219G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221279	NM_017661.4(ZNF280D):c.619C>A (p.Pro207Thr)	ZNF280D (P207T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309672	NM_017661.4(ZNF280D):c.613G>A (p.Val205Ile)	ZNF280D (V205I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194883	NM_017661.4(ZNF280D):c.457G>A (p.Gly153Arg)	ZNF280D (G153R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335358	NM_017661.4(ZNF280D):c.431T>C (p.Leu144Ser)	ZNF280D (L144S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478665	NM_017661.4(ZNF280D):c.410T>C (p.Val137Ala)	ZNF280D (V137A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299792	NM_017661.4(ZNF280D):c.316A>G (p.Ile106Val)	ZNF280D (I93V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2315320	NM_017661.4(ZNF280D):c.281C>T (p.Thr94Met)	ZNF280D (T81M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398335	NM_017661.4(ZNF280D):c.236G>A (p.Ser79Asn)	ZNF280D (S66N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613184	NM_017661.4(ZNF280D):c.136T>G (p.Phe46Val)	ZNF280D (F33V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563659	NM_017661.4(ZNF280D):c.65A>T (p.Glu22Val)	ZNF280D (E22V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063359	GRCh37/hg19 15q21.3(chr15:57002950-57350938)x3	TCF12, ZNF280D	Copy number gain	not specified	GPathogenic
Select item 2685517	GRCh37/hg19 15q21.3-22.2(chr15:54020810-62086530)x1	ADAM10, ALDH1A2 +35 more	Copy number loss	not provided	GPathogenic
Select item 2427772	NC_000015.9:g.(?_56961021)_(57839688_?)del	CGNL1, TCF12 +1 more	Deletion	not provided	GPathogenic
Select item 1807706	GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3	ADAM10, ALDH1A2 +81 more	Copy number gain	not provided	GPathogenic
Select item 1340208	GRCh37/hg19 15q21.3(chr15:55772371-57880518)x1	CGNL1, DNAAF4 +8 more	Copy number loss	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 685183	GRCh37/hg19 15q21.1-22.2(chr15:48000433-60747551)x3	ADAM10, ALDH1A2 +76 more	Copy number gain	not provided	GPathogenic
Select item 564202	GRCh37/hg19 15q21.2-21.3(chr15:50727285-57603305)x3	LYSMD2, ARPP19 +36 more	Copy number gain	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	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)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395193	GRCh37/hg19 15q21.3-22.2(chr15:54713558-62769295)x1	ADAM10, ALDH1A2 +37 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic

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Items: 70