ClinVar for Gene (Select 374655) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3259324	NM_198526.4(ZNF710):c.1677G>C (p.Met559Ile)	ZNF710 (M559I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259323	NM_198526.4(ZNF710):c.755G>A (p.Ser252Asn)	ZNF710 (S252N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259322	NM_198526.4(ZNF710):c.872G>A (p.Arg291His)	ZNF710 (R291H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259321	NM_198526.4(ZNF710):c.550G>A (p.Val184Met)	ZNF710 (V184M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259320	NM_198526.4(ZNF710):c.776C>T (p.Ala259Val)	ZNF710 (A259V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259319	NM_198526.4(ZNF710):c.1933G>A (p.Ala645Thr)	ZNF710, ZNF710-AS1 (A645T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243685	NC_000015.9:g.(?_89379429)_(91312836_?)del	ABHD2, ACAN +29 more	Deletion	D-2-hydroxyglutaric aciduria 2 +1 more	GConflicting classifications of pathogenicity
Select item 3197930	NM_198526.4(ZNF710):c.82G>C (p.Val28Leu)	ZNF710 (V28L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197929	NM_198526.4(ZNF710):c.787G>A (p.Val263Met)	ZNF710 (V263M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197928	NM_198526.4(ZNF710):c.739G>A (p.Val247Met)	ZNF710 (V247M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197927	NM_198526.4(ZNF710):c.665A>C (p.His222Pro)	ZNF710 (H222P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197926	NM_198526.4(ZNF710):c.575C>T (p.Pro192Leu)	ZNF710 (P192L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197925	NM_198526.4(ZNF710):c.1560G>C (p.Gln520His)	ZNF710 (Q520H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197924	NM_198526.4(ZNF710):c.1546G>A (p.Val516Ile)	ZNF710 (V516I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645702	NM_198526.4(ZNF710):c.545T>G (p.Leu182Arg)	ZNF710 (L182R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2645701	NM_198526.4(ZNF710):c.441C>T (p.Cys147=)	ZNF710	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2610617	NM_198526.4(ZNF710):c.676C>A (p.Leu226Met)	ZNF710 (L226M)	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 2547913	NM_198526.4(ZNF710):c.70G>A (p.Val24Met)	ZNF710 (V24M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541626	NM_198526.4(ZNF710):c.436G>A (p.Gly146Ser)	ZNF710 (G146S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529292	NM_198526.4(ZNF710):c.505C>T (p.Arg169Trp)	ZNF710 (R169W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516529	NM_198526.4(ZNF710):c.517C>T (p.His173Tyr)	ZNF710 (H173Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513877	NM_198526.4(ZNF710):c.1810G>A (p.Gly604Ser)	ZNF710 (G604S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510605	NM_198526.4(ZNF710):c.143G>A (p.Gly48Glu)	ZNF710 (G48E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498631	GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3	ABHD2, ACAN +86 more	Copy number gain	not provided	GPathogenic
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	AAGAB, ABHD17C +209 more	Copy number gain	not provided	GPathogenic
Select item 2495682	NM_198526.4(ZNF710):c.334G>A (p.Glu112Lys)	ZNF710 (E112K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467793	NM_198526.4(ZNF710):c.680G>C (p.Ser227Thr)	ZNF710 (S227T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464642	NM_198526.4(ZNF710):c.868G>A (p.Asp290Asn)	ZNF710 (D290N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455866	NM_198526.4(ZNF710):c.1192G>A (p.Glu398Lys)	ZNF710 (E398K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422891	NC_000015.9:g.(?_89379429)_(91565479_?)dup	ABHD2, ACAN +37 more	Duplication	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 2410987	NM_198526.4(ZNF710):c.782C>T (p.Ser261Leu)	ZNF710 (S261L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393720	NM_198526.4(ZNF710):c.413C>T (p.Ala138Val)	ZNF710 (A138V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391600	NM_198526.4(ZNF710):c.218G>C (p.Gly73Ala)	ZNF710 (G73A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384776	NM_198526.4(ZNF710):c.496C>T (p.Arg166Cys)	ZNF710 (R166C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349558	NM_198526.4(ZNF710):c.419C>A (p.Ala140Asp)	ZNF710 (A140D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347902	NM_198526.4(ZNF710):c.466G>A (p.Val156Ile)	ZNF710 (V156I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335845	NM_198526.4(ZNF710):c.1339C>T (p.Arg447Cys)	ZNF710 (R447C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328980	NM_198526.4(ZNF710):c.296C>T (p.Thr99Met)	ZNF710 (T99M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301437	NM_198526.4(ZNF710):c.1840C>G (p.Leu614Val)	ZNF710, ZNF710-AS1 (L614V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297357	NM_198526.4(ZNF710):c.349G>A (p.Glu117Lys)	ZNF710 (E117K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290388	NM_198526.4(ZNF710):c.763G>A (p.Glu255Lys)	ZNF710 (E255K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276303	NM_198526.4(ZNF710):c.523C>T (p.Pro175Ser)	ZNF710 (P175S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241469	NM_198526.4(ZNF710):c.1858T>G (p.Ser620Ala)	ZNF710, ZNF710-AS1 (S620A)	Single nucleotide variant (missense variant)	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 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	CGNL1, MAPDA +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 815745	GRCh37/hg19 15q26.1(chr15:90111672-90671886)x3	ARPIN-AP3S2, ZNF710 +11 more	Copy number gain	not provided	GUncertain significance
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	PDIA3, PEAK1 +521 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)	NOX5, NPAP1 +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	CHRFAM7A, CHRM5 +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	ALDH1A2, ALDH1A3 +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	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 154660	GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3	LOC130057929, LOC130057930 +311 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 149245	GRCh38/hg38 15q26.1(chr15:89821144-90216589)x1	AP3S2, ARPIN +29 more	Copy number loss	See cases	GLikely benign
Select item 148189	GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	MIR11181, MIR1179 +517 more	Copy number gain	See cases	GPathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC130057943, LOC130057944 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	LOC130057907, LOC130057908 +630 more	Copy number gain	See cases	GPathogenic
Select item 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	LOC130057997, LOC130057998 +500 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 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	ABHD2, ACAN +611 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 80