25352[HGNC] - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 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 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	ABHD2, ACAN +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	MIR11181, MIR1179 +517 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 154660	GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3	LOC130057929, LOC130057930 +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 149245	GRCh38/hg38 15q26.1(chr15:89821144-90216589)x1	AP3S2, ARPIN +29 more	Copy number loss	See cases	GLikely benign
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 3197930	NM_198526.4(ZNF710):c.82G>C (p.Val28Leu)	ZNF710 (V28L)	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 2391600	NM_198526.4(ZNF710):c.218G>C (p.Gly73Ala)	ZNF710 (G73A)	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 2495682	NM_198526.4(ZNF710):c.334G>A (p.Glu112Lys)	ZNF710 (E112K)	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 2393720	NM_198526.4(ZNF710):c.413C>T (p.Ala138Val)	ZNF710 (A138V)	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 2541626	NM_198526.4(ZNF710):c.436G>A (p.Gly146Ser)	ZNF710 (G146S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645701	NM_198526.4(ZNF710):c.441C>T (p.Cys147=)	ZNF710	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2384776	NM_198526.4(ZNF710):c.496C>T (p.Arg166Cys)	ZNF710 (R166C)	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 2276303	NM_198526.4(ZNF710):c.523C>T (p.Pro175Ser)	ZNF710 (P175S)	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 3259321	NM_198526.4(ZNF710):c.550G>A (p.Val184Met)	ZNF710 (V184M)	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 3197927	NM_198526.4(ZNF710):c.665A>C (p.His222Pro)	ZNF710 (H222P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2467793	NM_198526.4(ZNF710):c.680G>C (p.Ser227Thr)	ZNF710 (S227T)	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 3259323	NM_198526.4(ZNF710):c.755G>A (p.Ser252Asn)	ZNF710 (S252N)	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 3259320	NM_198526.4(ZNF710):c.776C>T (p.Ala259Val)	ZNF710 (A259V)	Single nucleotide variant (missense variant)	not specified	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 3197929	NM_198526.4(ZNF710):c.787G>A (p.Val263Met)	ZNF710 (V263M)	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 3259322	NM_198526.4(ZNF710):c.872G>A (p.Arg291His)	ZNF710 (R291H)	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 2335845	NM_198526.4(ZNF710):c.1339C>T (p.Arg447Cys)	ZNF710 (R447C)	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 3197925	NM_198526.4(ZNF710):c.1560G>C (p.Gln520His)	ZNF710 (Q520H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2513877	NM_198526.4(ZNF710):c.1810G>A (p.Gly604Ser)	ZNF710 (G604S)	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 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 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	Bloom syndrome +1 more	GConflicting classifications of pathogenicity
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	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 2422891	NC_000015.9:g.(?_89379429)_(91565479_?)dup	ABHD2, ACAN +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	B2M, CTXN2 +472 more	Duplication	Bloom syndrome +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

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Items: 80