ClinVar for Gene (Select 30832) - ClinVar

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Links from Gene

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3335589	NM_014594.3(ZNF354C):c.596A>G (p.Gln199Arg)	ZNF354C (Q199R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335588	NM_014594.3(ZNF354C):c.121A>G (p.Met41Val)	ZNF354C (M41V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335587	NM_014594.3(ZNF354C):c.644C>T (p.Pro215Leu)	ZNF354C (P215L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195377	NM_014594.3(ZNF354C):c.73G>A (p.Glu25Lys)	ZNF354C (E25K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195375	NM_014594.3(ZNF354C):c.523C>A (p.Leu175Ile)	ZNF354C (L175I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195374	NM_014594.3(ZNF354C):c.450T>G (p.His150Gln)	ZNF354C (H150Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195373	NM_014594.3(ZNF354C):c.1613C>T (p.Ser538Leu)	ZNF354C (S538L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195372	NM_014594.3(ZNF354C):c.1012A>G (p.Asn338Asp)	ZNF354C (N338D)	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 3062813	GRCh37/hg19 5q35.3(chr5:177944162-180198875)x3	ZNF354A, ZNF354B +27 more	Copy number gain	not specified	GPathogenic
Select item 2622447	NM_014594.3(ZNF354C):c.988T>C (p.Cys330Arg)	ZNF354C (C330R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611154	NM_014594.3(ZNF354C):c.1114G>A (p.Ala372Thr)	ZNF354C (A372T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606342	NM_014594.3(ZNF354C):c.953A>C (p.His318Pro)	ZNF354C (H318P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595164	NM_014594.3(ZNF354C):c.55G>A (p.Val19Met)	ZNF354C (V19M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570030	NM_014594.3(ZNF354C):c.695T>C (p.Ile232Thr)	ZNF354C (I232T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547051	NM_014594.3(ZNF354C):c.446C>T (p.Ser149Leu)	ZNF354C (S149L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486151	NM_014594.3(ZNF354C):c.998G>A (p.Cys333Tyr)	ZNF354C (C333Y)	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 2425920	NC_000005.9:g.(?_178408658)_(178585900_?)del	ADAMTS2, GRM6 +2 more	Deletion	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 2424787	NC_000005.9:g.(?_178413111)_(179263593_?)dup	ADAMTS2, CANX +11 more	Duplication	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 2423423	NC_000005.9:g.(?_178408658)_(178772329_?)del	ADAMTS2, GRM6 +2 more	Deletion	not provided	GPathogenic
Select item 2401178	NM_014594.3(ZNF354C):c.685C>A (p.Leu229Met)	ZNF354C (L229M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320559	NM_014594.3(ZNF354C):c.185A>C (p.His62Pro)	ZNF354C (H62P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283631	NM_014594.3(ZNF354C):c.826G>A (p.Glu276Lys)	ZNF354C (E276K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258219	NM_014594.3(ZNF354C):c.68A>G (p.Gln23Arg)	ZNF354C (Q23R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2251664	NM_014594.3(ZNF354C):c.1548A>C (p.Lys516Asn)	ZNF354C (K516N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248209	NM_014594.3(ZNF354C):c.713A>T (p.His238Leu)	ZNF354C (H238L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232286	NM_014594.3(ZNF354C):c.326T>C (p.Met109Thr)	ZNF354C (M109T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225553	NM_014594.3(ZNF354C):c.442G>T (p.Asp148Tyr)	ZNF354C (D148Y)	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 1808297	GRCh37/hg19 5q35.3(chr5:178507587-178922733)x3	ADAMTS2, ZNF354C	Copy number gain	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 1527208	GRCh37/hg19 5q35.3(chr5:178397790-178649201)	ADAMTS2, GRM6 +2 more	Copy number gain	not specified	GUncertain significance
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 1511116	NC_000005.9:g.(?_178413111)_(178700085_?)dup	ADAMTS2, GRM6 +2 more	Duplication	not provided	GUncertain significance
Select item 1429944	NC_000005.9:g.(?_178408658)_(178541345_?)dup	ADAMTS2, GRM6 +2 more	Duplication	Ehlers-Danlos syndrome, dermatosparaxis type	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 979541	GRCh37/hg19 5q35.3(chr5:178397713-178730385)x3	ZNF354C, ADAMTS2 +2 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 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 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 442504	GRCh37/hg19 5q35.3(chr5:178410737-179061393)x3	ADAMTS2, GRM6 +4 more	Copy number gain	See cases	GUncertain significance
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 155523	GRCh38/hg38 5q35.3(chr5:178983149-179627701)x3	ADAMTS2, GRM6 +20 more	Copy number gain	See cases	GLikely benign
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 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	LOC129995246, LOC129995247 +622 more	Copy number gain	See cases	GPathogenic
Select item 148408	GRCh38/hg38 5q35.3(chr5:178988364-179593557)x3	ADAMTS2, GRM6 +14 more	Copy number gain	See cases	GLikely benign
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: 70