ClinVar for Gene (Select 90317) - ClinVar

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Links from Gene

Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3197228	NM_178523.5(ZNF616):c.995A>G (p.Lys332Arg)	ZNF616 (K332R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197227	NM_178523.5(ZNF616):c.901C>A (p.Leu301Met)	ZNF616 (L301M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197226	NM_178523.5(ZNF616):c.808A>C (p.Ile270Leu)	ZNF616 (I270L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197225	NM_178523.5(ZNF616):c.73G>C (p.Glu25Gln)	ZNF616 (E25Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197224	NM_178523.5(ZNF616):c.251A>T (p.Asn84Ile)	ZNF616 (N84I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197223	NM_178523.5(ZNF616):c.206T>C (p.Phe69Ser)	ZNF616 (F69S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197222	NM_178523.5(ZNF616):c.1991A>G (p.Asn664Ser)	ZNF616 (N664S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197221	NM_178523.5(ZNF616):c.1679A>G (p.Gln560Arg)	ZNF616 (Q560R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197220	NM_178523.5(ZNF616):c.163A>G (p.Lys55Glu)	ZNF616 (K55E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197219	NM_178523.5(ZNF616):c.1325G>A (p.Cys442Tyr)	ZNF616 (C442Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197218	NM_178523.5(ZNF616):c.1319A>G (p.Asn440Ser)	ZNF616 (N440S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197217	NM_178523.5(ZNF616):c.1262G>A (p.Arg421His)	ZNF616 (R421H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197216	NM_178523.5(ZNF616):c.1097C>T (p.Ser366Leu)	ZNF616 (S366L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197215	NM_178523.5(ZNF616):c.1069G>A (p.Val357Ile)	ZNF616 (V357I)	Single nucleotide variant (missense variant +1 more)	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 2650382	NM_178523.5(ZNF616):c.139+1524G>C	ZNF616	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2616546	NM_178523.5(ZNF616):c.821G>T (p.Cys274Phe)	ZNF616 (C274F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603946	NM_178523.5(ZNF616):c.520T>G (p.Cys174Gly)	ZNF616 (C174G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594773	NM_178523.5(ZNF616):c.1538G>T (p.Arg513Ile)	ZNF616 (R513I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590126	NM_178523.5(ZNF616):c.1540A>G (p.Ile514Val)	ZNF616 (I514V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589651	NM_178523.5(ZNF616):c.611A>G (p.Gln204Arg)	ZNF616 (Q204R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528559	NM_178523.5(ZNF616):c.1976G>A (p.Arg659Lys)	ZNF616 (R659K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2524187	NM_178523.5(ZNF616):c.1286G>T (p.Arg429Ile)	ZNF616 (R429I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521107	NM_178523.5(ZNF616):c.377A>G (p.His126Arg)	ZNF616 (H126R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509209	NM_178523.5(ZNF616):c.545A>G (p.Glu182Gly)	ZNF616 (E182G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491530	NM_178523.5(ZNF616):c.2286A>C (p.Lys762Asn)	ZNF616 (K762N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491173	NM_178523.5(ZNF616):c.231T>A (p.His77Gln)	ZNF616 (H77Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491010	NM_178523.5(ZNF616):c.1973A>G (p.Asp658Gly)	ZNF616 (D658G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490321	NM_178523.5(ZNF616):c.521G>T (p.Cys174Phe)	ZNF616 (C174F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486458	NM_178523.5(ZNF616):c.1358C>T (p.Ala453Val)	ZNF616 (A453V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478623	NM_178523.5(ZNF616):c.2110C>A (p.Leu704Ile)	ZNF616 (L704I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476315	NM_178523.5(ZNF616):c.2132A>G (p.His711Arg)	ZNF616 (H711R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465638	NM_178523.5(ZNF616):c.1507A>G (p.Ser503Gly)	ZNF616 (S503G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407537	NM_178523.5(ZNF616):c.926G>A (p.Arg309His)	ZNF616 (R309H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399493	NM_178523.5(ZNF616):c.1598G>A (p.Arg533His)	ZNF616 (R533H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381712	NM_178523.5(ZNF616):c.1703G>A (p.Arg568Gln)	ZNF616 (R568Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371467	NM_178523.5(ZNF616):c.2267G>A (p.Cys756Tyr)	ZNF616 (C756Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366089	NM_178523.5(ZNF616):c.2233T>C (p.Tyr745His)	ZNF616 (Y745H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357196	NM_178523.5(ZNF616):c.2291G>A (p.Arg764Gln)	ZNF616 (R764Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2355918	NM_178523.5(ZNF616):c.1519C>T (p.Arg507Cys)	ZNF616 (R507C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354563	NM_178523.5(ZNF616):c.1115G>A (p.Arg372Gln)	ZNF616 (R372Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348574	NM_178523.5(ZNF616):c.242A>C (p.Asp81Ala)	ZNF616 (D81A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346630	NM_178523.5(ZNF616):c.440G>A (p.Arg147His)	ZNF616 (R147H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346287	NM_178523.5(ZNF616):c.1007G>A (p.Arg336Gln)	ZNF616 (R336Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336754	NM_178523.5(ZNF616):c.61T>C (p.Trp21Arg)	ZNF616 (W21R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326847	NM_178523.5(ZNF616):c.899A>G (p.Asn300Ser)	ZNF616 (N300S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312572	NM_178523.5(ZNF616):c.1073G>A (p.Cys358Tyr)	ZNF616 (C358Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307960	NM_178523.5(ZNF616):c.1799C>T (p.Thr600Ile)	ZNF616 (T600I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302617	NM_178523.5(ZNF616):c.1972G>A (p.Asp658Asn)	ZNF616 (D658N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299833	NM_178523.5(ZNF616):c.359C>G (p.Thr120Ser)	ZNF616 (T120S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297976	NM_178523.5(ZNF616):c.1592G>C (p.Ser531Thr)	ZNF616 (S531T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297730	NM_178523.5(ZNF616):c.187A>C (p.Ser63Arg)	ZNF616 (S63R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295611	NM_178523.5(ZNF616):c.1868A>G (p.His623Arg)	ZNF616 (H623R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267329	NM_178523.5(ZNF616):c.75G>T (p.Glu25Asp)	ZNF616 (E25D)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2257551	NM_178523.5(ZNF616):c.1715G>T (p.Ser572Ile)	ZNF616 (S572I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245893	NM_178523.5(ZNF616):c.2255A>G (p.Lys752Arg)	ZNF616 (K752R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240798	NM_178523.5(ZNF616):c.869T>G (p.Ile290Ser)	ZNF616 (I290S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239710	NM_178523.5(ZNF616):c.1928G>A (p.Ser643Asn)	ZNF616 (S643N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234937	NM_178523.5(ZNF616):c.1261C>T (p.Arg421Cys)	ZNF616 (R421C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220867	NM_178523.5(ZNF616):c.2290C>G (p.Arg764Gly)	ZNF616 (R764G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214183	NM_178523.5(ZNF616):c.1979C>T (p.Pro660Leu)	ZNF616 (P660L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209652	NM_178523.5(ZNF616):c.919A>T (p.Ser307Cys)	ZNF616 (S307C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209257	NM_178523.5(ZNF616):c.872A>G (p.His291Arg)	ZNF616 (H291R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208185	NM_178523.5(ZNF616):c.1933C>T (p.Arg645Cys)	ZNF616 (R645C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207666	NM_178523.5(ZNF616):c.365A>G (p.Lys122Arg)	ZNF616 (K122R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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	FLT3LG, FPR1 +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	FUZ, GARIN5A +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	CLDND2, IGSF23 +293 more	Copy number gain	not provided	GPathogenic
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 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic
Select item 157458	NM_001005738.1(FPR2):c.290_344331dup	FPR2, FPR3 +20 more	Duplication	Gestational diabetes mellitus uncontrolled	Gnot provided
Select item 154637	GRCh38/hg38 19q13.41(chr19:51769103-52124150)x3	FPR2, FPR3 +20 more	Copy number gain	See cases	GBenign
Select item 147613	GRCh38/hg38 19q13.41(chr19:51865544-52113443)x3	LOC126862922, LOC126862923 +16 more	Copy number gain	See cases	GBenign
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 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 58803	GRCh38/hg38 19q13.41(chr19:51824349-52113443)x3	FPR3, LOC126862921 +18 more	Copy number gain	See cases	GUncertain significance
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: 82