ClinVar for Gene (Select 6940) - ClinVar

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Links from Gene

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3335583	NM_005649.3(ZNF354A):c.1432A>C (p.Ser478Arg)	ZNF354A (S436R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195362	NM_005649.3(ZNF354A):c.755G>A (p.Ser252Asn)	ZNF354A (S252N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3195361	NM_005649.3(ZNF354A):c.637C>T (p.Arg213Cys)	ZNF354A (R213C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195360	NM_005649.3(ZNF354A):c.520C>T (p.Leu174Phe)	ZNF354A (L132F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195359	NM_005649.3(ZNF354A):c.433G>C (p.Val145Leu)	ZNF354A (V145L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195358	NM_005649.3(ZNF354A):c.337A>T (p.Asn113Tyr)	ZNF354A (N113Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195357	NM_005649.3(ZNF354A):c.316G>A (p.Gly106Arg)	ZNF354A (G64R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195356	NM_005649.3(ZNF354A):c.204A>T (p.Gln68His)	ZNF354A (Q68H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195354	NM_005649.3(ZNF354A):c.1247G>A (p.Gly416Glu)	ZNF354A (G416E +1 more)	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 2656129	NM_005649.3(ZNF354A):c.933A>C (p.Ser311=)	ZNF354A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656128	NM_005649.3(ZNF354A):c.1500G>C (p.Gly500=)	ZNF354A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2613268	NM_005649.3(ZNF354A):c.1730C>T (p.Pro577Leu)	ZNF354A (P577L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559862	NM_005649.3(ZNF354A):c.1766A>T (p.His589Leu)	ZNF354A (H547L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511835	NM_005649.3(ZNF354A):c.184G>C (p.Val62Leu)	ZNF354A (V20L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489256	NM_005649.3(ZNF354A):c.1070A>G (p.Asn357Ser)	ZNF354A (N357S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488228	NM_005649.3(ZNF354A):c.305C>T (p.Ser102Phe)	ZNF354A (S60F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468756	NM_005649.3(ZNF354A):c.111C>G (p.Asn37Lys)	ZNF354A (N37K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2459508	NM_005649.3(ZNF354A):c.1744A>G (p.Thr582Ala)	ZNF354A (T582A +1 more)	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 2382083	NM_005649.3(ZNF354A):c.983A>G (p.Tyr328Cys)	ZNF354A (Y328C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356105	NM_005649.3(ZNF354A):c.1043A>T (p.His348Leu)	ZNF354A (H306L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354145	NM_005649.3(ZNF354A):c.502T>C (p.Phe168Leu)	ZNF354A (F126L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349722	NM_005649.3(ZNF354A):c.242G>A (p.Gly81Asp)	ZNF354A (G39D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338060	NM_005649.3(ZNF354A):c.1286G>A (p.Arg429Gln)	ZNF354A (R387Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311136	NM_005649.3(ZNF354A):c.560C>T (p.Pro187Leu)	ZNF354A (P187L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303018	NM_005649.3(ZNF354A):c.533A>G (p.Gln178Arg)	ZNF354A (Q136R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270250	NM_005649.3(ZNF354A):c.724T>C (p.Phe242Leu)	ZNF354A (F242L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254483	NM_005649.3(ZNF354A):c.688C>T (p.Arg230Cys)	ZNF354A (R188C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234904	NM_005649.3(ZNF354A):c.1645C>T (p.Pro549Ser)	ZNF354A (P549S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212896	NM_005649.3(ZNF354A):c.44C>T (p.Thr15Met)	ZNF354A (T15M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2204185	NM_005649.3(ZNF354A):c.290C>T (p.Thr97Met)	ZNF354A (T97M +1 more)	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 768053	NM_005649.3(ZNF354A):c.1437A>C (p.Ser479=)	ZNF354A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 563132	GRCh37/hg19 5q35.3(chr5:177532379-178306035)x3	CLK4, COL23A1 +7 more	Copy number gain	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 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

ClinVar

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Links from Gene

Items: 70