ZNF766[gene] - ClinVar

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Items: 41

	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 3198183	NM_001010851.3(ZNF766):c.10C>G (p.Leu4Val)	LOC121627887, ZNF766 (L4V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470703	NM_001010851.3(ZNF766):c.14G>C (p.Arg5Pro)	LOC121627887, ZNF766 (R5P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198184	NM_001010851.3(ZNF766):c.20G>T (p.Gly7Val)	ZNF766 (G7V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260841	NM_001010851.3(ZNF766):c.40G>A (p.Val14Met)	ZNF766 (V14M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198187	NM_001010851.3(ZNF766):c.46A>G (p.Ile16Val)	ZNF766 (I16V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346356	NM_001010851.3(ZNF766):c.49G>C (p.Glu17Gln)	ZNF766 (E17Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198189	NM_001010851.3(ZNF766):c.63G>T (p.Glu21Asp)	ZNF766 (E21D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569678	NM_001010851.3(ZNF766):c.344A>C (p.Gln115Pro)	ZNF766 (Q115P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259449	NM_001010851.3(ZNF766):c.361C>A (p.Leu121Met)	ZNF766 (L121M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198185	NM_001010851.3(ZNF766):c.403C>G (p.Gln135Glu)	ZNF766 (Q135E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198186	NM_001010851.3(ZNF766):c.422G>A (p.Ser141Asn)	ZNF766 (S141N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339650	NM_001010851.3(ZNF766):c.425A>G (p.His142Arg)	ZNF766 (H142R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262007	NM_001010851.3(ZNF766):c.428G>A (p.Ser143Asn)	ZNF766 (S143N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211581	NM_001010851.3(ZNF766):c.437T>C (p.Val146Ala)	ZNF766 (V146A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257743	NM_001010851.3(ZNF766):c.491A>G (p.His164Arg)	ZNF766 (H164R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198188	NM_001010851.3(ZNF766):c.592G>A (p.Val198Met)	ZNF766 (V198M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608462	NM_001010851.3(ZNF766):c.593T>G (p.Val198Gly)	ZNF766 (V198G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283801	NM_001010851.3(ZNF766):c.653A>G (p.His218Arg)	ZNF766 (H218R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514251	NM_001010851.3(ZNF766):c.692C>G (p.Ala231Gly)	ZNF766 (A231G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300773	NM_001010851.3(ZNF766):c.698A>G (p.His233Arg)	ZNF766 (H233R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253829	NM_001010851.3(ZNF766):c.742T>A (p.Cys248Ser)	ZNF766 (C248S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510916	NM_001010851.3(ZNF766):c.932G>A (p.Ser311Asn)	ZNF766 (S311N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405474	NM_001010851.3(ZNF766):c.959T>C (p.Ile320Thr)	ZNF766 (I320T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368677	NM_001010851.3(ZNF766):c.1031C>T (p.Thr344Ile)	ZNF766 (T344I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348539	NM_001010851.3(ZNF766):c.1295T>A (p.Ile432Asn)	ZNF766 (I432N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 145086	GRCh38/hg38 19q13.41(chr19:52295547-52386995)x1	LOC130065056, LOC130065057 +7 more	Copy number loss	See cases	GBenign
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 1526670	GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438)	FPR3, ZNF577 +115 more	Copy number gain	not specified	GLikely pathogenic
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 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

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Items: 41