ZNF784[gene] - ClinVar

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Items: 56

	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 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	TMC4, TMEM150B +537 more	Copy number gain	See cases	GPathogenic
Select item 154108	GRCh38/hg38 19q13.42-13.43(chr19:55037146-56982033)x3	BRSK1, C19orf85 +196 more	Copy number gain	See cases	GUncertain significance
Select item 149081	GRCh38/hg38 19q13.42-13.43(chr19:55048514-56972458)x3	BRSK1, C19orf85 +194 more	Copy number gain	See cases	GLikely pathogenic
Select item 153813	GRCh38/hg38 19q13.42(chr19:55066790-55789870)x3	NAT14, NLRP11 +124 more	Copy number gain	See cases	GUncertain significance
Select item 145961	GRCh38/hg38 19q13.42-13.43(chr19:55550939-57031576)x1	CCDC106, EDDM13 +106 more	Copy number loss	See cases	GLikely pathogenic
Select item 560140	Single allele	CCDC106, EPN1 +37 more	Deletion	not provided	GUncertain significance
Select item 2280783	NM_203374.2(ZNF784):c.913G>T (p.Asp305Tyr)	ZNF784 (D305Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198376	NM_203374.2(ZNF784):c.890C>G (p.Ser297Trp)	ZNF784 (S297W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198375	NM_203374.2(ZNF784):c.881C>A (p.Ala294Asp)	ZNF784 (A294D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570506	NM_203374.2(ZNF784):c.878C>T (p.Ala293Val)	ZNF784 (A293V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340137	NM_203374.2(ZNF784):c.869G>C (p.Gly290Ala)	ZNF784 (G290A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2300774	NM_203374.2(ZNF784):c.833C>T (p.Pro278Leu)	ZNF784 (P278L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516808	NM_203374.2(ZNF784):c.832C>T (p.Pro278Ser)	ZNF784 (P278S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198374	NM_203374.2(ZNF784):c.721G>A (p.Gly241Ser)	ZNF784 (G241S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382900	NM_203374.2(ZNF784):c.583C>G (p.Pro195Ala)	ZNF784 (P195A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259550	NM_203374.2(ZNF784):c.550G>C (p.Ala184Pro)	ZNF784 (A184P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591747	NM_203374.2(ZNF784):c.527C>T (p.Pro176Leu)	ZNF784 (P176L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198373	NM_203374.2(ZNF784):c.499G>A (p.Val167Ile)	ZNF784 (V167I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523972	NM_203374.2(ZNF784):c.497C>T (p.Ala166Val)	ZNF784 (A166V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259552	NM_203374.2(ZNF784):c.490A>C (p.Thr164Pro)	ZNF784 (T164P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218812	NM_203374.2(ZNF784):c.457G>A (p.Val153Met)	ZNF784 (V153M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247263	NM_203374.2(ZNF784):c.455G>A (p.Gly152Glu)	ZNF784 (G152E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261314	NM_203374.2(ZNF784):c.376G>A (p.Glu126Lys)	ZNF784 (E126K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259551	NM_203374.2(ZNF784):c.316T>G (p.Cys106Gly)	ZNF784 (C106G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259553	NM_203374.2(ZNF784):c.283G>A (p.Gly95Arg)	ZNF784 (G95R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243692	NM_203374.2(ZNF784):c.197A>G (p.His66Arg)	ZNF784 (H66R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402701	NM_203374.2(ZNF784):c.175C>A (p.Pro59Thr)	ZNF784 (P59T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198370	NM_203374.2(ZNF784):c.160A>G (p.Thr54Ala)	ZNF784 (T54A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512828	NM_203374.2(ZNF784):c.59C>A (p.Ser20Tyr)	ZNF784 (S20Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395456	NM_203374.2(ZNF784):c.53C>T (p.Ser18Leu)	ZNF784 (S18L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464932	NM_203374.2(ZNF784):c.47C>T (p.Pro16Leu)	ZNF784 (P16L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198372	NM_203374.2(ZNF784):c.41C>G (p.Pro14Arg)	ZNF784 (P14R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198371	NM_203374.2(ZNF784):c.36C>G (p.Ser12Arg)	ZNF784 (S12R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198369	NM_203374.2(ZNF784):c.11C>T (p.Ala4Val)	ZNF784 (A4V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062375	GRCh37/hg19 19q13.42-13.43(chr19:56080158-57672397)x1	CCDC106, DUXA +36 more	Copy number loss	not specified	GUncertain significance
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 1341981	GRCh37/hg19 19q13.42-13.43(chr19:55434660-56463734)x1	CCDC106, COX6B2 +45 more	Copy number loss	not provided	GUncertain significance
Select item 1341017	GRCh37/hg19 19q13.42-13.43(chr19:55247893-56503347)x1	BRSK1, CCDC106 +54 more	Copy number loss	not provided	GLikely pathogenic
Select item 980772	GRCh37/hg19 19q13.42-13.43(chr19:54334195-56434037)x3	TMC4, TMEM150B +87 more	Copy number gain	not provided	GUncertain significance
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 564606	GRCh37/hg19 19q13.42-13.43(chr19:54196216-58759679)x3	ZNF548, ZNF549 +157 more	Copy number gain	not provided	GPathogenic
Select item 564600	GRCh37/hg19 19q13.42-13.43(chr19:55779884-56896574)x1	KMT5C, NLRP8 +39 more	Copy number loss	not provided	GUncertain significance
Select item 443658	GRCh37/hg19 19q13.42-13.43(chr19:55844155-57408007)x3	CCDC106, COX6B2 +47 more	Copy number gain	See cases	GUncertain significance
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 443202	GRCh37/hg19 19q13.42-13.43(chr19:55549385-57489784)x3	BRSK1, CCDC106 +61 more	Copy number gain	See cases	GUncertain significance
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 221354	chr19:56133299..57648277 complex variant	NLRP4, CCDC106 +31 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 56