ZNF787[gene] - ClinVar

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Items: 65

	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 145961	GRCh38/hg38 19q13.42-13.43(chr19:55550939-57031576)x1	CCDC106, EDDM13 +106 more	Copy number loss	See cases	GLikely pathogenic
Select item 151467	GRCh38/hg38 19q13.43(chr19:56068382-56169136)x1	LINC01864, LOC112553117 +15 more	Copy number loss	See cases	GUncertain significance
Select item 2248021	NM_001002836.4(ZNF787):c.1135G>A (p.Gly379Arg)	ZNF787 (G379R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 254121	NM_001002836.4(ZNF787):c.1086G>C (p.Glu362Asp)	ZNF787 (E362D)	Single nucleotide variant (missense variant)	Oromandibular-limb hypogenesis spectrum	GUncertain significance
Select item 2454399	NM_001002836.4(ZNF787):c.878C>T (p.Ala293Val)	ZNF787 (A293V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198401	NM_001002836.4(ZNF787):c.827C>T (p.Ala276Val)	ZNF787 (A276V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255807	NM_001002836.4(ZNF787):c.820G>C (p.Ala274Pro)	ZNF787 (A274P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522080	NM_001002836.4(ZNF787):c.799G>C (p.Ala267Pro)	ZNF787 (A267P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218874	NM_001002836.4(ZNF787):c.799G>T (p.Ala267Ser)	ZNF787 (A267S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516160	NM_001002836.4(ZNF787):c.790G>T (p.Ala264Ser)	ZNF787 (A264S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460539	NM_001002836.4(ZNF787):c.790G>A (p.Ala264Thr)	ZNF787 (A264T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522079	NM_001002836.4(ZNF787):c.784G>A (p.Ala262Thr)	ZNF787 (A262T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483823	NM_001002836.4(ZNF787):c.777G>A (p.Met259Ile)	ZNF787 (M259I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293845	NM_001002836.4(ZNF787):c.775A>G (p.Met259Val)	ZNF787 (M259V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259566	NM_001002836.4(ZNF787):c.760G>A (p.Ala254Thr)	ZNF787 (A254T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603779	NM_001002836.4(ZNF787):c.757G>T (p.Ala253Ser)	ZNF787 (A253S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227828	NM_001002836.4(ZNF787):c.743C>G (p.Ala248Gly)	ZNF787 (A248G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209993	NM_001002836.4(ZNF787):c.737T>G (p.Val246Gly)	ZNF787 (V246G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410134	NM_001002836.4(ZNF787):c.709G>A (p.Val237Met)	ZNF787 (V237M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246242	NM_001002836.4(ZNF787):c.683C>T (p.Ala228Val)	ZNF787 (A228V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534804	NM_001002836.4(ZNF787):c.680T>C (p.Val227Ala)	ZNF787 (V227A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2284572	NM_001002836.4(ZNF787):c.633G>C (p.Lys211Asn)	ZNF787 (K211N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216345	NM_001002836.4(ZNF787):c.563G>T (p.Ser188Ile)	ZNF787 (S188I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259565	NM_001002836.4(ZNF787):c.484A>G (p.Ser162Gly)	ZNF787 (S162G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569592	NM_001002836.4(ZNF787):c.451A>G (p.Thr151Ala)	ZNF787 (T151A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2569590	NM_001002836.4(ZNF787):c.375G>C (p.Leu125Phe)	ZNF787 (L125F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569589	NM_001002836.4(ZNF787):c.374T>C (p.Leu125Ser)	ZNF787 (L125S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2534803	NM_001002836.4(ZNF787):c.290C>G (p.Ala97Gly)	ZNF787 (A97G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534801	NM_001002836.4(ZNF787):c.289G>A (p.Ala97Thr)	ZNF787 (A97T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198400	NM_001002836.4(ZNF787):c.254A>G (p.Gln85Arg)	ZNF787 (Q85R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262235	NM_001002836.4(ZNF787):c.190G>C (p.Ala64Pro)	ZNF787 (A64P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510704	NM_001002836.4(ZNF787):c.152C>T (p.Ala51Val)	ZNF787 (A51V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315631	NM_001002836.4(ZNF787):c.99T>G (p.Asp33Glu)	ZNF787 (D33E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024986	NM_001002836.4(ZNF787):c.79+294G>A	ZNF787 (V125I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
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 1808053	GRCh37/hg19 19q13.43(chr19:56332374-56796637)x3	GALP, NLRP11 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1526672	GRCh37/hg19 19q13.43(chr19:56332200-57126728)	GALP, NLRP11 +15 more	Copy number gain	not specified	GUncertain significance
Select item 980776	GRCh37/hg19 19q13.43(chr19:56358060-57007128)x3	GALP, NLRP13 +10 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 816095	GRCh37/hg19 19q13.43(chr19:56375683-56985884)x3	ZSCAN5B, GALP +10 more	Copy number gain	not provided	GUncertain significance
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 564598	GRCh37/hg19 19q13.43(chr19:56565455-57401997)x1	ZNF667, ZNF471 +16 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 442366	GRCh37/hg19 19q13.42-13.43(chr19:56212463-57191708)x3	GALP, NLRP11 +21 more	Copy number gain	See cases	GUncertain significance
Select item 425538	GRCh37/hg19 19q13.43(chr19:56463675-56918488)x3	GALP, NLRP5 +7 more	Copy number gain	not provided	GUncertain significance
Select item 394511	GRCh37/hg19 19q13.43(chr19:56573129-56736675)x3	ZNF787, ZSCAN5A +4 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 221405	GRCh37/hg19 19q13.42-13.43(chr19:56200298-57654005)x1	NLRP5, NLRP8 +26 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221354	chr19:56133299..57648277 complex variant	NLRP4, CCDC106 +31 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 65