ZNF444[gene] - ClinVar

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Items: 59

	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 2255313	NM_018337.4(ZNF444):c.62A>G (p.His21Arg)	ZNF444 (H21R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615663	NM_018337.4(ZNF444):c.98G>A (p.Gly33Asp)	ZNF444 (G33D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195832	NM_018337.4(ZNF444):c.204C>G (p.Phe68Leu)	ZNF444 (F68L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329782	NM_018337.4(ZNF444):c.353C>T (p.Thr118Met)	ZNF444 (T118M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556222	NM_018337.4(ZNF444):c.364G>A (p.Gly122Arg)	ZNF444 (G122R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367421	NM_018337.4(ZNF444):c.389G>A (p.Ser130Asn)	ZNF444 (S130N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195833	NM_018337.4(ZNF444):c.400C>G (p.Pro134Ala)	ZNF444 (P134A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195834	NM_018337.4(ZNF444):c.421G>A (p.Gly141Arg)	ZNF444 (G140R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195835	NM_018337.4(ZNF444):c.431G>T (p.Gly144Val)	ZNF444 (G143V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2262392	NM_018337.4(ZNF444):c.445G>A (p.Asp149Asn)	ZNF444 (D148N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207567	NM_018337.4(ZNF444):c.461G>A (p.Arg154His)	ZNF444 (R153H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258131	NM_018337.4(ZNF444):c.467A>G (p.Tyr156Cys)	ZNF444 (Y155C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538344	NM_018337.4(ZNF444):c.477G>T (p.Glu159Asp)	ZNF444 (E158D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195836	NM_018337.4(ZNF444):c.490C>G (p.Pro164Ala)	ZNF444 (P163A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476748	NM_018337.4(ZNF444):c.491C>G (p.Pro164Arg)	ZNF444 (P163R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510976	NM_018337.4(ZNF444):c.511G>A (p.Ala171Thr)	ZNF444 (A170T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478317	NM_018337.4(ZNF444):c.656A>T (p.Lys219Met)	ZNF444 (K219M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258134	NM_018337.4(ZNF444):c.689C>G (p.Pro230Arg)	ZNF444 (P229R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469870	NM_018337.4(ZNF444):c.752C>T (p.Ala251Val)	ZNF444 (A250V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195837	NM_018337.4(ZNF444):c.770A>G (p.Lys257Arg)	ZNF444 (K256R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258132	NM_018337.4(ZNF444):c.806G>A (p.Arg269His)	ZNF444 (R269H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258135	NM_018337.4(ZNF444):c.812C>T (p.Thr271Met)	ZNF444 (T270M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463343	NM_018337.4(ZNF444):c.892C>G (p.Arg298Gly)	ZNF444 (R297G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347827	NM_018337.4(ZNF444):c.911C>T (p.Ala304Val)	ZNF444 (A304V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258133	NM_018337.4(ZNF444):c.941G>T (p.Gly314Val)	ZNF444 (G314V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515203	NM_018337.4(ZNF444):c.967C>T (p.Pro323Ser)	ZNF444 (P322S +1 more)	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 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: 59