ZNF774[gene] - ClinVar

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Items: 71

	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 154660	GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3	LOC126862240, LOC126862241 +311 more	Copy number gain	See cases	GPathogenic
Select item 58582	GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3	ADAMTS17, ALDH1A3 +422 more	Copy number gain	See cases	GPathogenic
Select item 146712	GRCh38/hg38 15q26.1(chr15:90216530-90767025)x1	BLM, CIB1 +44 more	Copy number loss	See cases	GUncertain significance
Select item 145898	GRCh38/hg38 15q26.1(chr15:90314432-90458918)x3	IQGAP1, LOC125146354 +7 more	Copy number gain	See cases	GLikely benign
Select item 145037	GRCh38/hg38 15q26.1(chr15:90314432-90400522)x3	IQGAP1, LOC125146354 +3 more	Copy number gain	See cases	GBenign
Select item 2554025	NM_001004309.3(ZNF774):c.145G>C (p.Glu49Gln)	ZNF774 (E49Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318332	NM_001004309.3(ZNF774):c.299A>G (p.Asp100Gly)	ZNF774 (D100G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783719	NM_001004309.3(ZNF774):c.345A>G (p.Leu115=)	ZNF774	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2248337	NM_001004309.3(ZNF774):c.370C>T (p.Leu124Phe)	ZNF774 (L124F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351182	NM_001004309.3(ZNF774):c.383G>A (p.Gly128Asp)	ZNF774 (G128D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3198244	NM_001004309.3(ZNF774):c.500T>C (p.Ile167Thr)	ZNF774 (I167T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1331570	NM_001004309.3(ZNF774):c.515C>T (p.Thr172Ile)	ZNF774 (T172I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2260211	NM_001004309.3(ZNF774):c.532C>G (p.Pro178Ala)	ZNF774 (P178A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198245	NM_001004309.3(ZNF774):c.566A>T (p.Lys189Ile)	ZNF774 (K189I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387863	NM_001004309.3(ZNF774):c.587C>T (p.Thr196Ile)	ZNF774 (T196I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322829	NM_001004309.3(ZNF774):c.592C>A (p.Arg198Ser)	ZNF774 (R198S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616648	NM_001004309.3(ZNF774):c.669C>G (p.Ile223Met)	ZNF774 (I223M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227286	NM_001004309.3(ZNF774):c.736C>T (p.Arg246Trp)	ZNF774 (R246W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495338	NM_001004309.3(ZNF774):c.751A>G (p.Ile251Val)	ZNF774 (I251V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364451	NM_001004309.3(ZNF774):c.755T>C (p.Met252Thr)	ZNF774 (M252T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198246	NM_001004309.3(ZNF774):c.791C>T (p.Ala264Val)	ZNF774 (A264V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226567	NM_001004309.3(ZNF774):c.808A>G (p.Lys270Glu)	ZNF774 (K270E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293207	NM_001004309.3(ZNF774):c.865A>G (p.Lys289Glu)	ZNF774 (K289E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478188	NM_001004309.3(ZNF774):c.882T>A (p.Asn294Lys)	ZNF774 (N294K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198247	NM_001004309.3(ZNF774):c.905A>G (p.Gln302Arg)	ZNF774 (Q302R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305871	NM_001004309.3(ZNF774):c.965C>G (p.Pro322Arg)	ZNF774 (P322R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217274	NM_001004309.3(ZNF774):c.989A>G (p.Asp330Gly)	ZNF774 (D330G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301320	NM_001004309.3(ZNF774):c.1030G>C (p.Glu344Gln)	ZNF774 (E344Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602704	NM_001004309.3(ZNF774):c.1138T>C (p.Cys380Arg)	ZNF774 (C380R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371299	NM_001004309.3(ZNF774):c.1153G>A (p.Ala385Thr)	ZNF774 (A385T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3198243	NM_001004309.3(ZNF774):c.1328G>T (p.Arg443Leu)	ZNF774 (R443L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254004	NM_001004309.3(ZNF774):c.1357C>A (p.His453Asn)	ZNF774 (H453N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406924	NM_001004309.3(ZNF774):c.1405C>T (p.Arg469Cys)	ZNF774 (R469C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516984	NM_001004309.3(ZNF774):c.1421T>G (p.Leu474Arg)	ZNF774 (L474R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685533	GRCh37/hg19 15q26.1(chr15:90880679-91080606)x1	CRTC3, IQGAP1 +1 more	Copy number loss	not provided	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 2422891	NC_000015.9:g.(?_89379429)_(91565479_?)dup	LINC00928, PLIN1 +37 more	Duplication	D-2-hydroxyglutaric aciduria 2	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 1340806	GRCh37/hg19 15q26.1(chr15:89520451-93926491)x1	ABHD2, ANPEP +41 more	Copy number loss	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 686177	GRCh37/hg19 15q26.1-26.3(chr15:90288175-102429112)x3	ADAMTS17, ALDH1A3 +54 more	Copy number gain	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 564229	GRCh37/hg19 15q26.1-26.3(chr15:89743929-102429112)x3	ABHD2, ADAMTS17 +66 more	Copy number gain	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 395056	GRCh37/hg19 15q26.1-26.3(chr15:90346994-102354798)	ADAMTS17, ALDH1A3 +51 more	Copy number loss	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: 71