ClinVar for Gene (Select 80108) - ClinVar

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Links from Gene

Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3334445	NM_030613.4(ZFP2):c.100G>C (p.Val34Leu)	ZFP2 (V34L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334444	NM_030613.4(ZFP2):c.533G>A (p.Arg178Gln)	ZFP2 (R178Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334443	NM_030613.4(ZFP2):c.1209T>G (p.Ile403Met)	ZFP2 (I403M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334442	NM_030613.4(ZFP2):c.929G>T (p.Ser310Ile)	ZFP2 (S310I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334441	NM_030613.4(ZFP2):c.764T>G (p.Met255Arg)	ZFP2 (M255R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334440	NM_030613.4(ZFP2):c.10G>A (p.Glu4Lys)	ZFP2 (E4K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193096	NM_030613.4(ZFP2):c.910G>A (p.Gly304Arg)	ZFP2 (G304R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193094	NM_030613.4(ZFP2):c.589A>G (p.Lys197Glu)	ZFP2 (K197E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193093	NM_030613.4(ZFP2):c.580G>C (p.Ala194Pro)	ZFP2 (A194P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193092	NM_030613.4(ZFP2):c.407G>A (p.Gly136Glu)	ZFP2 (G136E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193091	NM_030613.4(ZFP2):c.403T>C (p.Cys135Arg)	ZFP2 (C135R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193090	NM_030613.4(ZFP2):c.389A>G (p.Tyr130Cys)	ZFP2 (Y130C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193088	NM_030613.4(ZFP2):c.1369C>G (p.Gln457Glu)	ZFP2 (Q457E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193087	NM_030613.4(ZFP2):c.1345C>T (p.Arg449Trp)	ZFP2 (R449W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193086	NM_030613.4(ZFP2):c.1178A>G (p.Gln393Arg)	ZFP2 (Q393R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193085	NM_030613.4(ZFP2):c.115A>C (p.Thr39Pro)	ZFP2 (T39P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193084	NM_030613.4(ZFP2):c.1057C>T (p.Pro353Ser)	ZFP2 (P353S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193083	NM_030613.4(ZFP2):c.1033C>T (p.Arg345Trp)	ZFP2 (R345W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062850	GRCh37/hg19 5q35.3(chr5:177944162-180183615)x3	ADAMTS2, C5orf60 +27 more	Copy number gain	not specified	GUncertain significance
Select item 3062841	GRCh37/hg19 5q35.2-35.3(chr5:176385815-178410738)x1	B4GALT7, CLK4 +33 more	Copy number loss	not specified	GPathogenic
Select item 3062813	GRCh37/hg19 5q35.3(chr5:177944162-180198875)x3	ZNF354A, ZNF354B +27 more	Copy number gain	not specified	GPathogenic
Select item 2616413	NM_030613.4(ZFP2):c.941T>C (p.Ile314Thr)	ZFP2 (I314T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613861	NM_030613.4(ZFP2):c.1057C>A (p.Pro353Thr)	ZFP2 (P353T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613618	NM_030613.4(ZFP2):c.398A>G (p.Asn133Ser)	ZFP2 (N133S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604703	NM_030613.4(ZFP2):c.515A>G (p.Asn172Ser)	ZFP2 (N172S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539350	NM_030613.4(ZFP2):c.202C>T (p.Pro68Ser)	ZFP2 (P68S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526591	NM_030613.4(ZFP2):c.761G>C (p.Ser254Thr)	ZFP2 (S254T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457525	NM_030613.4(ZFP2):c.776T>A (p.Val259Glu)	ZFP2 (V259E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425922	NC_000005.9:g.(?_175158654)_(179263593_?)dup	ADAMTS2, ARL10 +63 more	Duplication	not provided	GUncertain significance
Select item 2425705	NC_000005.9:g.(?_177031160)_(178414004_?)dup	B4GALT7, CLK4 +13 more	Duplication		GUncertain significance
Select item 2389723	NM_030613.4(ZFP2):c.722C>G (p.Pro241Arg)	ZFP2 (P241R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386899	NM_030613.4(ZFP2):c.1346G>A (p.Arg449Gln)	ZFP2 (R449Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375620	NM_030613.4(ZFP2):c.857C>A (p.Thr286Asn)	ZFP2 (T286N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353924	NM_030613.4(ZFP2):c.674A>G (p.Gln225Arg)	ZFP2 (Q225R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353570	NM_030613.4(ZFP2):c.382A>G (p.Lys128Glu)	ZFP2 (K128E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348366	NM_030613.4(ZFP2):c.544G>A (p.Gly182Arg)	ZFP2 (G182R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340995	NM_030613.4(ZFP2):c.207G>T (p.Met69Ile)	ZFP2 (M69I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336977	NM_030613.4(ZFP2):c.1237G>C (p.Asp413His)	ZFP2 (D413H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311749	NM_030613.4(ZFP2):c.188C>A (p.Thr63Lys)	ZFP2 (T63K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287037	NM_030613.4(ZFP2):c.305A>G (p.Tyr102Cys)	ZFP2 (Y102C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278271	NM_030613.4(ZFP2):c.347C>A (p.Ser116Tyr)	ZFP2 (S116Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269527	NM_030613.4(ZFP2):c.301A>G (p.Ile101Val)	ZFP2 (I101V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247260	NM_030613.4(ZFP2):c.1167G>T (p.Lys389Asn)	ZFP2 (K389N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247259	NM_030613.4(ZFP2):c.1142C>G (p.Pro381Arg)	ZFP2 (P381R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246567	NM_030613.4(ZFP2):c.1058C>T (p.Pro353Leu)	ZFP2 (P353L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244104	NM_030613.4(ZFP2):c.869G>A (p.Arg290Gln)	ZFP2 (R290Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224715	NM_030613.4(ZFP2):c.63A>C (p.Leu21Phe)	ZFP2 (L21F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220987	NM_030613.4(ZFP2):c.1111G>A (p.Val371Met)	ZFP2 (V371M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217155	NM_030613.4(ZFP2):c.1072G>A (p.Val358Met)	ZFP2 (V358M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809328	GRCh37/hg19 5q35.3(chr5:177746012-179975280)x3	ADAMTS2, C5orf60 +24 more	Copy number gain	not provided	GUncertain significance
Select item 1809018	GRCh37/hg19 5q35.3(chr5:178125235-178759093)x1	ADAMTS2, GRM6 +6 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 1527207	GRCh37/hg19 5q35.3(chr5:177954576-180198875)	ADAMTS2, C5orf60 +27 more	Copy number gain	not specified	GUncertain significance
Select item 1527206	GRCh37/hg19 5q35.3(chr5:177926393-178613706)	ADAMTS2, CLK4 +8 more	Copy number loss	not specified	GUncertain significance
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 687207	GRCh37/hg19 5q35.3(chr5:177788681-178982549)x3	ADAMTS2, CLK4 +9 more	Copy number gain	not provided	GUncertain significance
Select item 686512	GRCh37/hg19 5q35.3(chr5:176848982-180719789)x3	ADAMTS2, B4GALT7 +59 more	Copy number gain	not provided	GPathogenic
Select item 685882	GRCh37/hg19 5q35.3(chr5:176643613-179085551)x3	COL23A1, ADAMTS2 +36 more	Copy number gain	not provided	GUncertain significance
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 563133	GRCh37/hg19 5q35.3(chr5:177622252-178478398)x1	ZFP2, GRM6 +8 more	Copy number loss	not provided	GUncertain significance
Select item 563131	GRCh37/hg19 5q35.3(chr5:177114088-180719789)x1	ADAMTS2, BTNL3 +50 more	Copy number loss	not provided	GUncertain significance
Select item 563130	GRCh37/hg19 5q35.3(chr5:176918345-179061393)x1	RUFY1, TMED9 +23 more	Copy number loss	not provided	GPathogenic
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)	ABLIM3, ACOT12 +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 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +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	ADAMTS2, B4GALT7 +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	LOC129995359, LOC129995360 +386 more	Copy number loss	See cases	GPathogenic
Select item 152882	GRCh38/hg38 5q35.3(chr5:178923770-178973462)x3	ZFP2, ZNF454 +1 more	Copy number gain	See cases	GUncertain significance
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	LOC129995246, LOC129995247 +622 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 58123	GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3	ADAMTS2, ARL10 +292 more	Copy number gain	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 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: 83