ClinVar for Gene (Select 643836) - ClinVar

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Links from Gene

Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2684436	GRCh37/hg19 5q35.3(chr5:178581633-180719789)x3	ADAMTS2, BTNL3 +34 more	Copy number gain	not provided	GUncertain significance
Select item 2656159	NM_001172638.2(ZFP62):c.468T>C (p.Leu156=)	ZFP62	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2613417	NM_001172638.2(ZFP62):c.631A>G (p.Ser211Gly)	ZFP62 (S178G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610234	NM_001172638.2(ZFP62):c.1976G>A (p.Ser659Asn)	ZFP62 (S626N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608944	NM_001172638.2(ZFP62):c.292C>A (p.Pro98Thr)	ZFP62 (P65T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606068	NM_001172638.2(ZFP62):c.1131C>G (p.Ser377Arg)	ZFP62 (S377R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591537	NM_001172638.2(ZFP62):c.1697G>T (p.Cys566Phe)	ZFP62 (C533F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589017	NM_001172638.2(ZFP62):c.2680G>A (p.Gly894Ser)	ZFP62 (G894S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2552135	NM_001172638.2(ZFP62):c.68C>G (p.Ala23Gly)	ZFP62 (A23G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2550701	NM_001172638.2(ZFP62):c.520T>C (p.Cys174Arg)	ZFP62 (C141R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535708	NM_001172638.2(ZFP62):c.1469C>G (p.Ser490Cys)	ZFP62 (S490C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523139	NM_001172638.2(ZFP62):c.1472G>C (p.Ser491Thr)	ZFP62 (S458T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495057	NM_001172638.2(ZFP62):c.23C>G (p.Thr8Ser)	ZFP62 (T8S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2490634	NM_001172638.2(ZFP62):c.1060C>G (p.Gln354Glu)	ZFP62 (Q321E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460226	NM_001172638.2(ZFP62):c.1711A>C (p.Ile571Leu)	ZFP62 (I538L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409527	NM_001172638.2(ZFP62):c.1777G>A (p.Glu593Lys)	ZFP62 (E560K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393251	NM_001172638.2(ZFP62):c.1805G>A (p.Arg602Gln)	ZFP62 (R602Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367527	NM_001172638.2(ZFP62):c.1466G>A (p.Arg489His)	ZFP62 (R456H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364436	NM_001172638.2(ZFP62):c.110C>G (p.Ser37Cys)	ZFP62 (S37C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351929	NM_001172638.2(ZFP62):c.2549A>G (p.Asn850Ser)	ZFP62 (N817S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2337665	NM_001172638.2(ZFP62):c.2006G>A (p.Gly669Glu)	ZFP62 (G636E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308360	NM_001172638.2(ZFP62):c.962G>T (p.Cys321Phe)	ZFP62 (C288F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308359	NM_001172638.2(ZFP62):c.961T>C (p.Cys321Arg)	ZFP62 (C288R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307762	NM_001172638.2(ZFP62):c.1272G>C (p.Lys424Asn)	ZFP62 (K391N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299351	NM_001172638.2(ZFP62):c.1180A>G (p.Lys394Glu)	ZFP62 (K394E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297836	NM_001172638.2(ZFP62):c.328C>G (p.Gln110Glu)	ZFP62 (Q77E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297580	NM_001172638.2(ZFP62):c.1424A>G (p.Lys475Arg)	ZFP62 (K475R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295874	NM_001172638.2(ZFP62):c.241A>G (p.Ile81Val)	ZFP62 (I81V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289815	NM_001172638.2(ZFP62):c.2084A>C (p.His695Pro)	ZFP62 (H695P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271734	NM_001172638.2(ZFP62):c.52G>A (p.Glu18Lys)	ZFP62 (E18K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2263974	NM_001172638.2(ZFP62):c.850G>A (p.Asp284Asn)	ZFP62 (D251N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262271	NM_001172638.2(ZFP62):c.1318A>G (p.Arg440Gly)	ZFP62 (R407G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253568	NM_001172638.2(ZFP62):c.1514A>G (p.Tyr505Cys)	ZFP62 (Y505C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238185	NM_001172638.2(ZFP62):c.71C>G (p.Ala24Gly)	ZFP62 (A24G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2236145	NM_001172638.2(ZFP62):c.1942G>A (p.Asp648Asn)	ZFP62 (D615N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233275	NM_001172638.2(ZFP62):c.1049C>T (p.Ser350Phe)	ZFP62 (S317F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231784	NM_001172638.2(ZFP62):c.1576A>T (p.Ile526Phe)	ZFP62 (I493F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216007	NM_001172638.2(ZFP62):c.1333G>A (p.Gly445Arg)	ZFP62 (G412R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212456	NM_001172638.2(ZFP62):c.286C>A (p.Leu96Met)	ZFP62 (L63M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212455	NM_001172638.2(ZFP62):c.136G>A (p.Asp46Asn)	ZFP62 (D46N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205095	NM_001172638.2(ZFP62):c.404A>G (p.Asn135Ser)	ZFP62 (N102S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1808159	GRCh37/hg19 5q35.3(chr5:179922498-180608605)x3	BTNL3, BTNL8 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1807832	GRCh37/hg19 5q35.3(chr5:180148276-180719789)x1	BTNL3, BTNL8 +15 more	Copy number loss	not provided	GUncertain significance
Select item 1711097	GRCh37/hg19 5q35.1-35.3(chr5:170350336-180719789)x3	ADAMTS2, ARL10 +117 more	Copy number gain	See cases	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 981214	GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3	ADAMTS2, ARL10 +115 more	Copy number gain	5q35 microduplication syndrome	GPathogenic
Select item 979542	GRCh37/hg19 5q35.3(chr5:180064955-180719789)x3	TRIM7, RACK1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 814766	GRCh37/hg19 5q35.3(chr5:180277974-180491461)x3	BTNL9, ZFP62 +2 more	Copy number gain	not provided	GLikely benign
Select item 814765	GRCh37/hg19 5q35.3(chr5:180277974-180579560)x3	BTNL3, TRV-CAC1-2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 814764	GRCh37/hg19 5q35.3(chr5:179479838-180695063)x3	OR2V2, TRIM7 +22 more	Copy number gain	not provided	GUncertain significance
Select item 814763	GRCh37/hg19 5q35.3(chr5:178487249-180622216)x4	ADAMTS2, BTNL3 +30 more	Copy number gain	not provided	GUncertain significance
Select item 792025	NM_001172638.2(ZFP62):c.1707A>G (p.Ala569=)	ZFP62	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 686512	GRCh37/hg19 5q35.3(chr5:176848982-180719789)x3	ADAMTS2, B4GALT7 +59 more	Copy number gain	not provided	GPathogenic
Select item 626286	Single allele	ADAMTS2, B4GALT7 +80 more	Duplication	not provided	GLikely pathogenic
Select item 625703	GRCh37/hg19 5q35.2-35.3(chr5:174990352-180690937)	ADAMTS2, ARL10 +90 more	Copy number gain	not provided	GPathogenic
Select item 625655	GRCh37/hg19 5q35.3(chr5:177776148-180687012)	ADAMTS2, BTNL3 +43 more	Copy number loss	not provided	GLikely pathogenic
Select item 563131	GRCh37/hg19 5q35.3(chr5:177114088-180719789)x1	ADAMTS2, BTNL3 +50 more	Copy number loss	not provided	GUncertain significance
Select item 443453	GRCh37/hg19 5q35.3(chr5:177535168-180719789)x3	ADAMTS2, BTNL3 +48 more	Copy number gain	See cases	GUncertain significance
Select item 443005	GRCh37/hg19 5q35.2-35.3(chr5:175570677-180719789)x1	ADAMTS2, ARL10 +86 more	Copy number loss	See cases	GPathogenic
Select item 442855	GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3	ADAMTS2, ARL10 +106 more	Copy number gain	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	FAT2, FAXDC2 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	ABLIM3, CBY3 +520 more	Copy number gain	See cases	GPathogenic
Select item 187821	GRCh37/hg19 5q35.2-35.3(chr5:174397487-180686444)x1	BTNL9, C5orf60 +92 more	Copy number loss	See cases	GPathogenic
Select item 154581	GRCh38/hg38 5q35.2-35.3(chr5:176700128-181269805)x1	LOC129995370, LOC129995371 +325 more	Copy number loss	See cases	GPathogenic
Select item 154193	GRCh38/hg38 5q35.3(chr5:178235909-181292788)x3	ADAMTS2, BTNL3 +207 more	Copy number gain	See cases	GLikely pathogenic
Select item 153687	GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1	ADAMTS2, ARL10 +386 more	Copy number loss	See cases	GPathogenic
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	ADAMTS2, ARL10 +622 more	Copy number gain	See cases	GPathogenic
Select item 147753	GRCh38/hg38 5q35.3(chr5:180636182-181269805)x3	BTNL3, BTNL8 +90 more	Copy number gain	See cases	GUncertain significance
Select item 146663	GRCh38/hg38 5q35.3(chr5:180581319-180846638)x3	FLT4, HEIH +16 more	Copy number gain	See cases	GBenign
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	LOC129995377, LOC129995378 +676 more	Copy number gain	See cases	GPathogenic
Select item 145959	GRCh38/hg38 5q35.3(chr5:179669736-180897169)x1	CANX, CBY3 +85 more	Copy number loss	See cases	GLikely pathogenic
Select item 144891	GRCh38/hg38 5q35.3(chr5:180764645-180859067)x3	HEIH, LINC00847 +11 more	Copy number gain	See cases	GBenign
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995188, LOC129995189 +863 more	Copy number gain	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic
Select item 57495	GRCh38/hg38 5q35.3(chr5:178529878-181269805)x3	ADAMTS2, BTNL3 +203 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 82