ClinVar for Gene (Select 25799) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2604437	NM_014347.3(ZNF324):c.608C>T (p.Pro203Leu)	ZNF324 (P203L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597595	NM_014347.3(ZNF324):c.1343C>T (p.Thr448Met)	ZNF324 (T448M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589839	NM_014347.3(ZNF324):c.399G>T (p.Glu133Asp)	ZNF324 (E133D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570382	NM_014347.3(ZNF324):c.930G>C (p.Glu310Asp)	ZNF324 (E310D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551727	NM_014347.3(ZNF324):c.556G>C (p.Gly186Arg)	ZNF324 (G186R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549963	NM_014347.3(ZNF324):c.482G>T (p.Arg161Leu)	ZNF324 (R161L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540524	NM_014347.3(ZNF324):c.673G>T (p.Gly225Cys)	ZNF324 (G225C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531547	NM_014347.3(ZNF324):c.1382C>G (p.Ala461Gly)	ZNF324 (A461G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529035	NM_014347.3(ZNF324):c.376C>T (p.Arg126Trp)	ZNF324 (R126W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528445	NM_014347.3(ZNF324):c.1564T>G (p.Ser522Ala)	ZNF324 (S522A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524534	NM_014347.3(ZNF324):c.581G>C (p.Arg194Pro)	ZNF324 (R194P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494909	NM_014347.3(ZNF324):c.762G>T (p.Glu254Asp)	ZNF324 (E254D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477562	NM_014347.3(ZNF324):c.961G>A (p.Ala321Thr)	ZNF324 (A321T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473917	NM_014347.3(ZNF324):c.448G>A (p.Gly150Ser)	ZNF324 (G150S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473533	NM_014347.3(ZNF324):c.194C>T (p.Thr65Met)	ZNF324 (T65M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410368	NM_014347.3(ZNF324):c.272C>T (p.Ser91Phe)	ZNF324 (S91F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385657	NM_014347.3(ZNF324):c.652G>A (p.Gly218Ser)	ZNF324 (G218S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379365	NM_014347.3(ZNF324):c.1162G>A (p.Glu388Lys)	ZNF324 (E388K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367971	NM_014347.3(ZNF324):c.1550A>G (p.His517Arg)	ZNF324 (H517R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358387	NM_014347.3(ZNF324):c.568A>G (p.Arg190Gly)	ZNF324 (R190G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349591	NM_014347.3(ZNF324):c.163C>T (p.Arg55Cys)	ZNF324 (R55C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343838	NM_014347.3(ZNF324):c.586A>C (p.Lys196Gln)	ZNF324 (K196Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342570	NM_014347.3(ZNF324):c.1199C>A (p.Ala400Glu)	ZNF324 (A400E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341385	NM_014347.3(ZNF324):c.230G>A (p.Arg77His)	ZNF324 (R77H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338151	NM_014347.3(ZNF324):c.320C>T (p.Thr107Ile)	ZNF324 (T107I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336455	NM_014347.3(ZNF324):c.1594C>T (p.Pro532Ser)	ZNF324 (P532S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326086	NM_014347.3(ZNF324):c.931A>G (p.Thr311Ala)	ZNF324 (T311A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312137	NM_014347.3(ZNF324):c.277G>A (p.Glu93Lys)	ZNF324 (E93K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310329	NM_014347.3(ZNF324):c.844G>A (p.Glu282Lys)	ZNF324 (E282K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300942	NM_014347.3(ZNF324):c.769T>C (p.Phe257Leu)	ZNF324 (F257L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262391	NM_014347.3(ZNF324):c.782C>T (p.Ala261Val)	ZNF324 (A261V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260014	NM_014347.3(ZNF324):c.1594C>G (p.Pro532Ala)	ZNF324 (P532A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245089	NM_014347.3(ZNF324):c.1639G>A (p.Val547Ile)	ZNF324 (V547I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244950	NM_014347.3(ZNF324):c.467C>G (p.Ala156Gly)	ZNF324 (A156G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224955	NM_014347.3(ZNF324):c.1646A>T (p.Gln549Leu)	ZNF324 (Q549L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205317	NM_014347.3(ZNF324):c.1565C>T (p.Ser522Phe)	ZNF324 (S522F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 686497	GRCh37/hg19 19q13.43(chr19:58882821-58995308)x3	RPS5, ZNF132 +5 more	Copy number gain	not provided	GUncertain significance
Select item 394551	GRCh37/hg19 19q13.43(chr19:58980667-59030618)x3	SLC27A5, ZBTB45 +2 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 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	MIR498, MIR512-1 +782 more	Copy number gain	See cases	GPathogenic
Select item 145872	GRCh38/hg38 19q13.43(chr19:58407283-58581129)x1	LOC130065239, LOC130065240 +41 more	Copy number loss	See cases	GLikely benign
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 59128	GRCh38/hg38 19q13.43(chr19:56363208-58581203)x3	A1BG, A1BG-AS1 +215 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 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC113939975, LOC116286194 +806 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 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 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

ClinVar

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Links from Gene

Items: 49