ZNF83[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 more	Copy number gain	See cases	GPathogenic
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	SSC5D, SYT5 +553 more	Copy number gain	See cases	GPathogenic
Select item 2523809	NM_018300.4(ZNF83):c.1525G>A (p.Gly509Arg)	ZNF83 (G509R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257805	NM_018300.4(ZNF83):c.1493C>T (p.Ser498Leu)	ZNF83 (S498L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198665	NM_018300.4(ZNF83):c.1486G>A (p.Asp496Asn)	ZNF83 (D496N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252047	NM_018300.4(ZNF83):c.1430C>T (p.Ala477Val)	ZNF83 (A477V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2613583	NM_018300.4(ZNF83):c.1420A>C (p.Asn474His)	ZNF83 (N474H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377650	NM_018300.4(ZNF83):c.1406G>C (p.Arg469Pro)	ZNF83 (R469P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226149	NM_018300.4(ZNF83):c.1343G>A (p.Arg448Gln)	ZNF83 (R448Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209758	NM_018300.4(ZNF83):c.1315G>A (p.Gly439Ser)	ZNF83 (G439S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2554026	NM_018300.4(ZNF83):c.1180A>C (p.Ile394Leu)	ZNF83 (I394L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292738	NM_018300.4(ZNF83):c.1108G>A (p.Glu370Lys)	ZNF83 (E370K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542203	NM_018300.4(ZNF83):c.1094T>A (p.Ile365Lys)	ZNF83 (I365K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198663	NM_018300.4(ZNF83):c.1052G>A (p.Gly351Asp)	ZNF83 (G351D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535926	NM_018300.4(ZNF83):c.1010G>A (p.Arg337Lys)	ZNF83 (R337K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198669	NM_018300.4(ZNF83):c.922T>C (p.Trp308Arg)	ZNF83 (W308R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617962	NM_018300.4(ZNF83):c.888G>C (p.Lys296Asn)	ZNF83 (K296N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769463	NM_018300.4(ZNF83):c.801_884del (p.His271_Phe298del)	ZNF83	Deletion (inframe_deletion)	not provided	GBenign
Select item 2331001	NM_018300.4(ZNF83):c.854G>C (p.Gly285Ala)	ZNF83 (G285A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 156704	NM_018300.4(ZNF83):c.824A>C (p.His275Pro)	ZNF83 (H275P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 3198668	NM_018300.4(ZNF83):c.731G>A (p.Arg244His)	ZNF83 (R244H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198667	NM_018300.4(ZNF83):c.704G>A (p.Cys235Tyr)	ZNF83 (C235Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325498	NM_018300.4(ZNF83):c.688G>A (p.Glu230Lys)	ZNF83 (E230K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303994	NM_018300.4(ZNF83):c.671G>A (p.Arg224Gln)	ZNF83 (R224Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255385	NM_018300.4(ZNF83):c.601G>A (p.Gly201Arg)	ZNF83 (G201R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296561	NM_018300.4(ZNF83):c.529T>A (p.Tyr177Asn)	ZNF83 (Y177N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520681	NM_018300.4(ZNF83):c.328A>G (p.Ile110Val)	ZNF83 (I110V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608910	NM_018300.4(ZNF83):c.246A>C (p.Gln82His)	ZNF83 (Q82H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259707	NM_018300.4(ZNF83):c.166C>T (p.Pro56Ser)	ZNF83 (P56S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198666	NM_018300.4(ZNF83):c.163C>T (p.Pro55Ser)	ZNF83 (P55S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322078	NM_018300.4(ZNF83):c.98C>G (p.Ala33Gly)	ZNF83 (A33G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 145088	GRCh38/hg38 19q13.41(chr19:52616146-52929716)x3	LOC122539214, LOC125384532 +15 more	Copy number gain	See cases	GUncertain significance
Select item 2650395	NM_001396016.1(LOC122539214):c.705G>A (p.Glu235=)	LOC122539214, ZNF83	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 2425913	NC_000019.9:g.(?_52714493)_(52716383_?)dup	PPP2R1A, ZNF83	Duplication	not provided	GUncertain significance
Select item 2425912	NC_000019.9:g.(?_52723422)_(52729234_?)dup	PPP2R1A, ZNF83	Duplication	not provided	GUncertain significance
Select item 1526670	GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438)	FPR3, ZNF577 +115 more	Copy number gain	not specified	GLikely pathogenic
Select item 1513327	NC_000019.9:g.(?_52714493)_(52729234_?)dup	PPP2R1A, ZNF83	Duplication	not provided	GUncertain significance
Select item 1411793	NC_000019.9:g.(?_52693350)_(52693447_?)dup	PPP2R1A, ZNF83	Duplication	not provided	GLikely benign
Select item 1340089	GRCh37/hg19 19q13.41(chr19:52831841-52924163)x1	ZNF610, ZNF528 +2 more	Copy number loss	not provided	GUncertain significance
Select item 980770	GRCh37/hg19 19q13.41(chr19:52987284-53052558)x1	ZNF578, ZNF808 +1 more	Copy number loss	not provided	GLikely benign
Select item 980769	GRCh37/hg19 19q13.41(chr19:53057478-53428612)x1	ZNF28, ZNF320 +7 more	Copy number loss	not provided	GLikely benign
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 564577	GRCh37/hg19 19q13.41(chr19:52831840-52914293)x1	ZNF83, ZNF528 +2 more	Copy number loss	not provided	GLikely benign
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic
Select item 394181	GRCh37/hg19 19q13.41(chr19:53002514-53030962)x3	ZNF578, ZNF808 +1 more	Copy number gain	See cases	GLikely benign
Select item 253924	GRCh37/hg19 19q13.41(chr19:52825019-53017595)x1	ZNF480, ZNF528 +5 more	Copy number loss	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 57