ZNF628[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 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 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	MIR498, MIR512-1 +782 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
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	A1BG, A1BG-AS1 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	LOC130065086, LOC130065087 +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	BRSK1, C19orf85 +124 more	Copy number gain	See cases	GUncertain significance
Select item 2205421	NM_033113.3(ZNF628):c.29C>T (p.Ala10Val)	ZNF628 (A10V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518080	NM_033113.3(ZNF628):c.83C>T (p.Ala28Val)	ZNF628 (A28V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404934	NM_033113.3(ZNF628):c.464A>G (p.Lys155Arg)	ZNF628 (K155R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363447	NM_033113.3(ZNF628):c.679G>C (p.Gly227Arg)	ZNF628 (G227R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462758	NM_033113.3(ZNF628):c.710C>T (p.Ala237Val)	ZNF628 (A237V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310291	NM_033113.3(ZNF628):c.745G>A (p.Val249Ile)	ZNF628 (V249I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384815	NM_033113.3(ZNF628):c.800C>G (p.Ala267Gly)	ZNF628 (A267G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319555	NM_033113.3(ZNF628):c.1142C>G (p.Ala381Gly)	LOC125384540, ZNF628 (A381G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244952	NM_033113.3(ZNF628):c.1231G>C (p.Glu411Gln)	LOC125384540, ZNF628 (E411Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208110	NM_033113.3(ZNF628):c.1963G>A (p.Ala655Thr)	ZNF628 (A655T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222162	NM_033113.3(ZNF628):c.2036A>C (p.His679Pro)	ZNF628 (H679P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549688	NM_033113.3(ZNF628):c.2155C>A (p.Gln719Lys)	ZNF628 (Q719K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384712	NM_033113.3(ZNF628):c.2894C>T (p.Pro965Leu)	ZNF628 (P965L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396825	NM_033113.3(ZNF628):c.3011C>T (p.Pro1004Leu)	ZNF628 (P1004L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296560	NM_033113.3(ZNF628):c.3035C>T (p.Pro1012Leu)	ZNF628 (P1012L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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	BRSK1, CCDC106 +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	FLT3LG, FPR1 +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)	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 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

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Items: 39