ClinVar for Gene (Select 400713) - ClinVar

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Links from Gene

Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3259858	NM_001145434.2(ZNF880):c.929A>G (p.His310Arg)	ZNF880 (H310R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259857	NM_001145434.2(ZNF880):c.1433A>G (p.Asn478Ser)	ZNF880 (N478S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259856	NM_001145434.2(ZNF880):c.1366A>G (p.Arg456Gly)	ZNF880 (R456G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259855	NM_001145434.2(ZNF880):c.568G>A (p.Gly190Ser)	ZNF880 (G190S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259854	NM_001145434.2(ZNF880):c.1658G>A (p.Cys553Tyr)	ZNF880 (C553Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198964	NM_001145434.2(ZNF880):c.797A>C (p.Lys266Thr)	ZNF880 (K266T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198963	NM_001145434.2(ZNF880):c.743T>C (p.Leu248Pro)	ZNF880 (L248P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198962	NM_001145434.2(ZNF880):c.692A>G (p.Gln231Arg)	ZNF880 (Q231R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198961	NM_001145434.2(ZNF880):c.652G>A (p.Asp218Asn)	ZNF880 (D218N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198959	NM_001145434.2(ZNF880):c.626A>G (p.Asp209Gly)	ZNF880 (D209G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198958	NM_001145434.2(ZNF880):c.561T>G (p.Asn187Lys)	ZNF880 (N187K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198957	NM_001145434.2(ZNF880):c.547C>T (p.Pro183Ser)	ZNF880 (P183S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198956	NM_001145434.2(ZNF880):c.1640C>T (p.Pro547Leu)	ZNF880 (P547L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198954	NM_001145434.2(ZNF880):c.1208C>T (p.Thr403Met)	ZNF880 (T403M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198953	NM_001145434.2(ZNF880):c.112G>A (p.Glu38Lys)	ZNF880 (E38K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198952	NM_001145434.2(ZNF880):c.1066A>G (p.Lys356Glu)	ZNF880 (K356E)	Single nucleotide variant (missense variant)	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 2650392	NM_001145434.2(ZNF880):c.1209G>T (p.Thr403=)	ZNF880	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650391	NM_001145434.2(ZNF880):c.264C>T (p.Asn88=)	ZNF880	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620753	NM_001145434.2(ZNF880):c.75C>A (p.Asp25Glu)	ZNF880 (D25E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606730	NM_001145434.2(ZNF880):c.1684A>G (p.Asn562Asp)	ZNF880 (N562D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546138	NM_001145434.2(ZNF880):c.455G>C (p.Ser152Thr)	ZNF880 (S152T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2527475	NM_001145434.2(ZNF880):c.640T>A (p.Cys214Ser)	ZNF880 (C214S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524039	NM_001145434.2(ZNF880):c.53A>G (p.Gln18Arg)	ZNF880 (Q18R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524038	NM_001145434.2(ZNF880):c.202C>G (p.Leu68Val)	ZNF880 (L68V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516750	NM_001145434.2(ZNF880):c.380A>G (p.Asn127Ser)	ZNF880 (N127S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512694	NM_001145434.2(ZNF880):c.1701C>A (p.His567Gln)	ZNF880 (H567Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471573	NM_001145434.2(ZNF880):c.403G>A (p.Glu135Lys)	ZNF880 (E135K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470976	NM_001145434.2(ZNF880):c.1330G>A (p.Val444Ile)	ZNF880 (V444I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469100	NM_001145434.2(ZNF880):c.43G>A (p.Glu15Lys)	ZNF880 (E15K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462253	NM_001145434.2(ZNF880):c.196C>T (p.Arg66Trp)	ZNF880 (R66W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2357603	NM_001145434.2(ZNF880):c.1196A>G (p.His399Arg)	ZNF880 (H399R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345647	NM_001145434.2(ZNF880):c.679C>A (p.Leu227Ile)	ZNF880 (L227I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345646	NM_001145434.2(ZNF880):c.1328A>G (p.Lys443Arg)	ZNF880 (K443R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342238	NM_001145434.2(ZNF880):c.1189A>G (p.Asn397Asp)	ZNF880 (N397D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337059	NM_001145434.2(ZNF880):c.688C>T (p.His230Tyr)	ZNF880 (H230Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332368	NM_001145434.2(ZNF880):c.1025A>G (p.His342Arg)	ZNF880 (H342R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320696	NM_001145434.2(ZNF880):c.481T>C (p.Tyr161His)	ZNF880 (Y161H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319434	NM_001145434.2(ZNF880):c.844C>T (p.His282Tyr)	ZNF880 (H282Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295147	NM_001145434.2(ZNF880):c.812A>G (p.His271Arg)	ZNF880 (H271R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292326	NM_001145434.2(ZNF880):c.1724C>A (p.Pro575Gln)	ZNF880 (P575Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282817	NM_001145434.2(ZNF880):c.151C>T (p.Pro51Ser)	ZNF880 (P51S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277514	NM_001145434.2(ZNF880):c.143T>C (p.Ile48Thr)	ZNF880 (I48T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258886	NM_001145434.2(ZNF880):c.41T>C (p.Ile14Thr)	ZNF880 (I14T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253199	NM_001145434.2(ZNF880):c.1169G>A (p.Arg390Lys)	ZNF880 (R390K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250670	NM_001145434.2(ZNF880):c.1271C>A (p.Thr424Asn)	ZNF880 (T424N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240139	NM_001145434.2(ZNF880):c.1676G>A (p.Arg559Gln)	ZNF880 (R559Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218966	NM_001145434.2(ZNF880):c.4C>G (p.Leu2Val)	LOC130065059, ZNF880 (L2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211804	NM_001145434.2(ZNF880):c.1230T>G (p.Cys410Trp)	ZNF880 (C410W)	Single nucleotide variant (missense variant)	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 1340089	GRCh37/hg19 19q13.41(chr19:52831841-52924163)x1	ZNF610, ZNF528 +2 more	Copy number loss	not provided	GUncertain significance
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 564577	GRCh37/hg19 19q13.41(chr19:52831840-52914293)x1	ZNF83, ZNF528 +2 more	Copy number loss	not provided	GLikely benign
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
Select item 253924	GRCh37/hg19 19q13.41(chr19:52825019-53017595)x1	ZNF480, ZNF528 +5 more	Copy number loss	See cases	GUncertain significance
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 151479	GRCh38/hg38 19q13.41(chr19:52356780-52386995)x1	LOC130065058, LOC130065059 +3 more	Copy number loss	See cases	GLikely benign
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 145086	GRCh38/hg38 19q13.41(chr19:52295547-52386995)x1	LOC130065056, LOC130065057 +7 more	Copy number loss	See cases	GBenign
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	LOC130065082, LOC130065083 +806 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 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 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

ClinVar

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Links from Gene

Items: 68