ZNF624[gene] - ClinVar

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Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58693	GRCh38/hg38 17p12-11.2(chr17:10892259-17964282)x3	LOC130060335, LOC130060336 +242 more	Copy number gain	See cases	GPathogenic
Select item 1707454	Single allele	ADORA2B, ARHGAP44 +228 more	Duplication	not specified	GPathogenic
Select item 154979	GRCh38/hg38 17p12-11.2(chr17:15066799-17472457)x1	ADORA2B, CCDC144A +137 more	Copy number loss	See cases	GPathogenic
Select item 148088	GRCh38/hg38 17p12-11.2(chr17:15210400-18280816)x3	LOC284191, LRRC75A +216 more	Copy number gain	See cases	GPathogenic
Select item 58104	GRCh38/hg38 17p12-11.2(chr17:15234685-20620700)x3	ADORA2B, AKAP10 +333 more	Copy number gain	See cases	GPathogenic
Select item 58107	GRCh38/hg38 17p12-11.2(chr17:15259164-20925299)x3	ADORA2B, AKAP10 +337 more	Copy number gain	See cases	GPathogenic
Select item 153990	GRCh38/hg38 17p12-11.2(chr17:15552362-19014200)x3	ADORA2B, ALKBH5 +240 more	Copy number gain	See cases	GPathogenic
Select item 155418	GRCh38/hg38 17p12-11.2(chr17:15729893-20510251)x1	LOC126862516, LOC126862517 +314 more	Copy number loss	See cases	GPathogenic
Select item 56996	GRCh38/hg38 17p12-11.2(chr17:15776915-18771753)x1	LOC130060335, LOC130060336 +217 more	Copy number loss	See cases	GPathogenic
Select item 153341	GRCh38/hg38 17p12-11.2(chr17:15784832-16860143)x3	ADORA2B, CCDC144A +64 more	Copy number gain	See cases	GUncertain significance
Select item 155583	GRCh38/hg38 17p12-11.2(chr17:15850859-20649235)x1	FAM106C, FAM83G +311 more	Copy number loss	See cases	GPathogenic
Select item 155110	GRCh38/hg38 17p12-11.2(chr17:15883037-20658018)x1	ADORA2B, AKAP10 +311 more	Copy number loss	See cases	GPathogenic
Select item 150691	GRCh38/hg38 17p12-11.2(chr17:15883037-20620700)x1	ADORA2B, AKAP10 +311 more	Copy number loss	See cases	GPathogenic
Select item 57018	GRCh38/hg38 17p12-11.2(chr17:15898032-20620700)x1	ADORA2B, AKAP10 +311 more	Copy number loss	See cases	GPathogenic
Select item 60429	GRCh38/hg38 17p12-11.2(chr17:15952071-18362819)x1	ADORA2B, ALKBH5 +199 more	Copy number loss	See cases	GPathogenic
Select item 60433	GRCh38/hg38 17p11.2(chr17:16117885-18362819)x1	ALKBH5, ATPAF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 155648	GRCh38/hg38 17p11.2(chr17:16426633-20998588)x3	LOC130060361, LOC130060362 +281 more	Copy number gain	See cases	GPathogenic
Select item 2466800	NM_020787.4(ZNF624):c.2584A>G (p.Thr862Ala)	ZNF624 (T862A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463532	NM_020787.4(ZNF624):c.2572C>T (p.His858Tyr)	ZNF624 (H858Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218818	NM_020787.4(ZNF624):c.2569A>G (p.Ile857Val)	ZNF624 (I857V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197306	NM_020787.4(ZNF624):c.2546C>G (p.Ser849Trp)	ZNF624 (S849W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557840	NM_020787.4(ZNF624):c.2531C>T (p.Ala844Val)	ZNF624 (A844V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197305	NM_020787.4(ZNF624):c.2480T>C (p.Leu827Ser)	ZNF624 (L827S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197304	NM_020787.4(ZNF624):c.2324C>G (p.Thr775Ser)	ZNF624 (T775S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237309	NM_020787.4(ZNF624):c.2264A>G (p.Asp755Gly)	ZNF624 (D755G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197303	NM_020787.4(ZNF624):c.2236C>T (p.His746Tyr)	ZNF624 (H746Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283800	NM_020787.4(ZNF624):c.2063G>A (p.Arg688Gln)	ZNF624 (R688Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374340	NM_020787.4(ZNF624):c.2053G>A (p.Val685Met)	ZNF624 (V685M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258965	NM_020787.4(ZNF624):c.1972C>T (p.His658Tyr)	ZNF624 (H658Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621769	NM_020787.4(ZNF624):c.1739A>C (p.Glu580Ala)	ZNF624 (E580A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402380	NM_020787.4(ZNF624):c.1703C>G (p.Ser568Cys)	ZNF624 (S568C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555031	NM_020787.4(ZNF624):c.1699C>T (p.Arg567Cys)	ZNF624 (R567C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197302	NM_020787.4(ZNF624):c.1559G>A (p.Arg520Gln)	ZNF624 (R520Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545160	NM_020787.4(ZNF624):c.1544T>C (p.Phe515Ser)	ZNF624 (F515S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468759	NM_020787.4(ZNF624):c.1472T>C (p.Ile491Thr)	ZNF624 (I491T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412428	NM_020787.4(ZNF624):c.1465G>A (p.Val489Ile)	ZNF624 (V489I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258963	NM_020787.4(ZNF624):c.1425C>G (p.Asn475Lys)	ZNF624 (N475K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398271	NM_020787.4(ZNF624):c.1271C>T (p.Ala424Val)	ZNF624 (A424V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311751	NM_020787.4(ZNF624):c.1043T>C (p.Met348Thr)	ZNF624 (M348T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329229	NM_020787.4(ZNF624):c.920A>T (p.Asn307Ile)	ZNF624 (N307I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197311	NM_020787.4(ZNF624):c.887G>T (p.Arg296Ile)	ZNF624 (R296I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400725	NM_020787.4(ZNF624):c.857A>G (p.His286Arg)	ZNF624 (H286R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3197310	NM_020787.4(ZNF624):c.820A>G (p.Lys274Glu)	ZNF624 (K274E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250375	NM_020787.4(ZNF624):c.811A>T (p.Asn271Tyr)	ZNF624 (N271Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224224	NM_020787.4(ZNF624):c.769A>G (p.Ile257Val)	ZNF624 (I257V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258961	NM_020787.4(ZNF624):c.668G>A (p.Arg223Lys)	ZNF624 (R223K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2375753	NM_020787.4(ZNF624):c.554A>G (p.His185Arg)	ZNF624 (H185R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258960	NM_020787.4(ZNF624):c.493A>G (p.Met165Val)	ZNF624 (M165V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 145256	GRCh38/hg38 17p11.2(chr17:16624420-16819465)x3	CCDC144A, FAM106C +5 more	Copy number gain	See cases	GBenign
Select item 2525999	NM_020787.4(ZNF624):c.445G>A (p.Glu149Lys)	ZNF624 (E149K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197308	NM_020787.4(ZNF624):c.404A>T (p.Lys135Met)	ZNF624 (K135M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307292	NM_020787.4(ZNF624):c.262A>G (p.Arg88Gly)	ZNF624 (R88G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556674	NM_020787.4(ZNF624):c.221C>T (p.Thr74Ile)	ZNF624 (T74I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384714	NM_020787.4(ZNF624):c.82C>T (p.Arg28Cys)	ZNF624 (R28C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409837	NM_020787.4(ZNF624):c.77T>C (p.Val26Ala)	ZNF624 (V26A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197309	NM_020787.4(ZNF624):c.58G>A (p.Ala20Thr)	ZNF624 (A20T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406196	NM_020787.4(ZNF624):c.38A>T (p.Lys13Ile)	ZNF624 (K13I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316274	NM_020787.4(ZNF624):c.26C>G (p.Ser9Cys)	ZNF624 (S9C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258964	NM_020787.4(ZNF624):c.11A>G (p.Gln4Arg)	ZNF624 (Q4R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063517	GRCh37/hg19 17p12-11.2(chr17:15759103-20564268)x1	ADORA2B, AKAP10 +61 more	Copy number loss	not specified	GPathogenic
Select item 3063493	GRCh37/hg19 17p12-11.2(chr17:15872060-16909718)x3	ADORA2B, CCDC144A +11 more	Copy number gain	not specified	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 2685597	GRCh37/hg19 17p12-11.2(chr17:15694772-20582794)x1	ADORA2B, AKAP10 +61 more	Copy number loss	not provided	GPathogenic
Select item 2684836	GRCh37/hg19 17p12-11.2(chr17:15633208-16567624)x3	ADORA2B, CENPV +10 more	Copy number gain	not provided	GUncertain significance
Select item 1809485	GRCh37/hg19 17p12-11.2(chr17:15754174-16657319)x3	ADORA2B, CCDC144A +10 more	Copy number gain	not provided	GUncertain significance
Select item 1808102	GRCh37/hg19 17p12-11.2(chr17:15722840-16653256)x3	ADORA2B, CCDC144A +10 more	Copy number gain	not provided	GUncertain significance
Select item 1703602	Single allele	ADORA2B, AKAP10 +78 more	Complex	PMP22-RAI1 contiguous gene duplication syndrome	GPathogenic
Select item 1703553	Single allele	ATPAF2, CCDC144A +17 more	Complex	Potocki-Lupski syndrome	GPathogenic
Select item 980122	GRCh37/hg19 17p12-11.2(chr17:15688146-16769801)x3	CENPV, LRRC75A +10 more	Copy number gain	not provided	GUncertain significance
Select item 980121	GRCh37/hg19 17p12-11.2(chr17:15688146-16756345)x1	UBB, TRPV2 +10 more	Copy number loss	not provided	GUncertain significance
Select item 980120	GRCh37/hg19 17p12-11.2(chr17:15810015-18537436)x1	ADORA2B, ALKBH5 +37 more	Copy number loss	not provided	GPathogenic
Select item 832395	NC_000017.11:g.(?_16217207)_(16972095_?)dup	CCDC144A, CENPV +7 more	Duplication	not provided	GUncertain significance
Select item 815910	GRCh37/hg19 17p12-11.2(chr17:15730101-16591260)x3	ZNF287, CENPV +9 more	Copy number gain	not provided	GUncertain significance
Select item 815909	GRCh37/hg19 17p12-11.2(chr17:15722839-16763698)x3	ZSWIM7, ADORA2B +10 more	Copy number gain	not provided	GUncertain significance
Select item 815908	GRCh37/hg19 17p12-11.2(chr17:15632431-18726389)x1	ADORA2B, ALKBH5 +42 more	Copy number loss	not provided	GPathogenic
Select item 688231	GRCh37/hg19 17p12-11.2(chr17:15722823-16796616)x3	ADORA2B, CCDC144A +10 more	Copy number gain	not provided	GUncertain significance
Select item 688172	GRCh37/hg19 17p12-11.2(chr17:15659400-16591180)x1	ADORA2B, CENPV +9 more	Copy number loss	not provided	GUncertain significance
Select item 686461	GRCh37/hg19 17p12-11.2(chr17:15599193-16756435)x3	ADORA2B, CCDC144A +12 more	Copy number gain	not provided	GUncertain significance
Select item 686350	GRCh37/hg19 17p12-11.2(chr17:15688146-16591261)x3	ADORA2B, CENPV +9 more	Copy number gain	not provided	GUncertain significance
Select item 442472	GRCh37/hg19 17p12-11.2(chr17:15688146-16727265)x3	ADORA2B, CCDC144A +10 more	Copy number gain	See cases	GLikely benign
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 394560	GRCh37/hg19 17p12-11.2(chr17:15745315-20261191)x1	ADORA2B, AKAP10 +59 more	Copy number loss	See cases	GPathogenic
Select item 253611	GRCh37/hg19 17p12-11.2(chr17:15767020-20261250)x3	ADORA2B, AKAP10 +59 more	Copy number gain	See cases	GPathogenic

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Items: 84