ClinVar for Gene (Select 55769) - ClinVar

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Links from Gene

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2617962	NM_018300.4(ZNF83):c.888G>C (p.Lys296Asn)	ZNF83 (K296N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613583	NM_018300.4(ZNF83):c.1420A>C (p.Asn474His)	ZNF83 (N474H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608910	NM_018300.4(ZNF83):c.246A>C (p.Gln82His)	ZNF83 (Q82H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554026	NM_018300.4(ZNF83):c.1180A>C (p.Ile394Leu)	ZNF83 (I394L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542203	NM_018300.4(ZNF83):c.1094T>A (p.Ile365Lys)	ZNF83 (I365K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535926	NM_018300.4(ZNF83):c.1010G>A (p.Arg337Lys)	ZNF83 (R337K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523809	NM_018300.4(ZNF83):c.1525G>A (p.Gly509Arg)	ZNF83 (G509R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520681	NM_018300.4(ZNF83):c.328A>G (p.Ile110Val)	ZNF83 (I110V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2377650	NM_018300.4(ZNF83):c.1406G>C (p.Arg469Pro)	ZNF83 (R469P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331001	NM_018300.4(ZNF83):c.854G>C (p.Gly285Ala)	ZNF83 (G285A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325498	NM_018300.4(ZNF83):c.688G>A (p.Glu230Lys)	ZNF83 (E230K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322078	NM_018300.4(ZNF83):c.98C>G (p.Ala33Gly)	ZNF83 (A33G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303994	NM_018300.4(ZNF83):c.671G>A (p.Arg224Gln)	ZNF83 (R224Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296561	NM_018300.4(ZNF83):c.529T>A (p.Tyr177Asn)	ZNF83 (Y177N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292738	NM_018300.4(ZNF83):c.1108G>A (p.Glu370Lys)	ZNF83 (E370K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257805	NM_018300.4(ZNF83):c.1493C>T (p.Ser498Leu)	ZNF83 (S498L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255385	NM_018300.4(ZNF83):c.601G>A (p.Gly201Arg)	ZNF83 (G201R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252047	NM_018300.4(ZNF83):c.1430C>T (p.Ala477Val)	ZNF83 (A477V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2226149	NM_018300.4(ZNF83):c.1343G>A (p.Arg448Gln)	ZNF83 (R448Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209758	NM_018300.4(ZNF83):c.1315G>A (p.Gly439Ser)	ZNF83 (G439S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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	FLT3LG, FPR1 +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	FUZ, GARIN5A +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	CLDND2, IGSF23 +293 more	Copy number gain	not provided	GPathogenic
Select item 769463	NM_018300.4(ZNF83):c.801_884del (p.His271_Phe298del)	ZNF83	Deletion (inframe_deletion)	not provided	GBenign
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)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +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
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 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	MIR498, MIR512-1 +782 more	Copy number gain	See cases	GPathogenic
Select item 145088	GRCh38/hg38 19q13.41(chr19:52616146-52929716)x3	LOC122539214, LOC125384532 +15 more	Copy number gain	See cases	GUncertain significance
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	A1BG, A1BG-AS1 +553 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 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC113939975, LOC116286194 +806 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065070, LOC130065071 +761 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 50