ZNF611[gene] - ClinVar

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Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 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 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 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
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	SSC5D, SYT5 +553 more	Copy number gain	See cases	GPathogenic
Select item 145088	GRCh38/hg38 19q13.41(chr19:52616146-52929716)x3	LOC122539214, LOC125384532 +15 more	Copy number gain	See cases	GUncertain significance
Select item 2356826	NM_001161499.2(ZNF611):c.2083C>T (p.Arg695Cys)	ZNF611 (R695C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398753	NM_001161499.2(ZNF611):c.2051G>A (p.Gly684Glu)	ZNF611 (G615E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601729	NM_001161499.2(ZNF611):c.2029C>T (p.Pro677Ser)	ZNF611 (P608S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197191	NM_001161499.2(ZNF611):c.1955G>T (p.Cys652Phe)	ZNF611 (C583F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209819	NM_001161499.2(ZNF611):c.1921C>T (p.Arg641Cys)	ZNF611 (R641C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386324	NM_001161499.2(ZNF611):c.1904C>T (p.Ser635Leu)	ZNF611 (S566L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197190	NM_001161499.2(ZNF611):c.1895G>A (p.Arg632His)	ZNF611 (R563H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226278	NM_001161499.2(ZNF611):c.1894C>T (p.Arg632Cys)	ZNF611 (R632C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307237	NM_001161499.2(ZNF611):c.1869G>T (p.Lys623Asn)	ZNF611 (K623N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290163	NM_001161499.2(ZNF611):c.1814G>A (p.Arg605His)	ZNF611 (R536H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345766	NM_001161499.2(ZNF611):c.1813C>T (p.Arg605Cys)	ZNF611 (R536C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590282	NM_001161499.2(ZNF611):c.1702T>G (p.Cys568Gly)	ZNF611 (C568G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208494	NM_001161499.2(ZNF611):c.1637C>G (p.Ala546Gly)	ZNF611 (A477G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272146	NM_001161499.2(ZNF611):c.1588A>G (p.Ile530Val)	ZNF611 (I461V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197189	NM_001161499.2(ZNF611):c.1562G>A (p.Arg521His)	ZNF611 (R452H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258905	NM_001161499.2(ZNF611):c.1469C>A (p.Thr490Asn)	ZNF611 (T421N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197188	NM_001161499.2(ZNF611):c.1438A>G (p.Lys480Glu)	ZNF611 (K411E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570164	NM_001161499.2(ZNF611):c.1426G>A (p.Asp476Asn)	ZNF611 (D476N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197187	NM_001161499.2(ZNF611):c.1355A>C (p.Lys452Thr)	ZNF611 (K452T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345311	NM_001161499.2(ZNF611):c.1244G>A (p.Arg415Gln)	ZNF611 (R415Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197185	NM_001161499.2(ZNF611):c.1223C>T (p.Thr408Met)	ZNF611 (T339M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2243138	NM_001161499.2(ZNF611):c.1201A>G (p.Lys401Glu)	ZNF611 (K332E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490524	NM_001161499.2(ZNF611):c.1157A>G (p.Glu386Gly)	ZNF611 (E386G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258909	NM_001161499.2(ZNF611):c.1154T>C (p.Ile385Thr)	ZNF611 (I385T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258910	NM_001161499.2(ZNF611):c.1131A>C (p.Lys377Asn)	ZNF611 (K377N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215529	NM_001161499.2(ZNF611):c.1130A>G (p.Lys377Arg)	ZNF611 (K308R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197183	NM_001161499.2(ZNF611):c.1106C>G (p.Pro369Arg)	ZNF611 (P300R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336456	NM_001161499.2(ZNF611):c.1094C>G (p.Thr365Ser)	ZNF611 (T365S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386637	NM_001161499.2(ZNF611):c.1093A>G (p.Thr365Ala)	ZNF611 (T365A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282875	NM_001161499.2(ZNF611):c.1057A>C (p.Asn353His)	ZNF611 (N353H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495393	NM_001161499.2(ZNF611):c.1040A>G (p.Glu347Gly)	ZNF611 (E278G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555095	NM_001161499.2(ZNF611):c.1028A>G (p.Tyr343Cys)	ZNF611 (Y343C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197196	NM_001161499.2(ZNF611):c.958T>C (p.Cys320Arg)	ZNF611 (C251R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258906	NM_001161499.2(ZNF611):c.950G>A (p.Cys317Tyr)	ZNF611 (C248Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556837	NM_001161499.2(ZNF611):c.947A>C (p.Asn316Thr)	ZNF611 (N247T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292689	NM_001161499.2(ZNF611):c.896A>C (p.Glu299Ala)	ZNF611 (E230A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470744	NM_001161499.2(ZNF611):c.890G>A (p.Ser297Asn)	ZNF611 (S228N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215086	NM_001161499.2(ZNF611):c.833A>G (p.Asp278Gly)	ZNF611 (D278G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214978	NM_001161499.2(ZNF611):c.832G>C (p.Asp278His)	ZNF611 (D209H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561874	NM_001161499.2(ZNF611):c.815A>G (p.Gln272Arg)	ZNF611 (Q203R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212639	NM_001161499.2(ZNF611):c.811G>A (p.Glu271Lys)	ZNF611 (E271K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3197193	NM_001161499.2(ZNF611):c.794G>T (p.Gly265Val)	ZNF611 (G196V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403465	NM_001161499.2(ZNF611):c.733C>G (p.Leu245Val)	ZNF611 (L176V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507697	NM_001161499.2(ZNF611):c.599C>T (p.Pro200Leu)	ZNF611 (P131L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465238	NM_001161499.2(ZNF611):c.596G>A (p.Arg199Lys)	ZNF611 (R130K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258904	NM_001161499.2(ZNF611):c.593G>A (p.Cys198Tyr)	ZNF611 (C198Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258908	NM_001161499.2(ZNF611):c.580C>G (p.Gln194Glu)	ZNF611 (Q194E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306354	NM_001161499.2(ZNF611):c.508T>A (p.Phe170Ile)	ZNF611 (F101I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209820	NM_001161499.2(ZNF611):c.485C>T (p.Ser162Leu)	ZNF611 (S162L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275523	NM_001161499.2(ZNF611):c.371G>A (p.Gly124Asp)	ZNF611 (G124D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197192	NM_001161499.2(ZNF611):c.317T>G (p.Ile106Ser)	ZNF611 (I37S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594004	NM_001161499.2(ZNF611):c.315A>C (p.Glu105Asp)	ZNF611 (E105D +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2356730	NM_001161499.2(ZNF611):c.245C>G (p.Thr82Arg)	ZNF611 (T13R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610983	NM_001161499.2(ZNF611):c.244A>T (p.Thr82Ser)	ZNF611 (T13S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362430	NM_001161499.2(ZNF611):c.220G>T (p.Val74Phe)	ZNF611 (V5F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 58343	GRCh38/hg38 19q13.41-13.42(chr19:52707235-53192628)x1	ERVFRD-2, ERVV-1 +23 more	Copy number loss	See cases	GUncertain significance
Select item 2243916	NM_001161499.2(ZNF611):c.164A>C (p.Glu55Ala)	ZNF611 (E55A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197186	NM_001161499.2(ZNF611):c.130T>G (p.Ser44Ala)	ZNF611 (S44A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3197184	NM_001161499.2(ZNF611):c.118T>A (p.Cys40Ser)	ZNF611 (C40S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295534	NM_001161499.2(ZNF611):c.101C>T (p.Ser34Leu)	ZNF611 (S34L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197195	NM_001161499.2(ZNF611):c.91A>G (p.Ile31Val)	ZNF611 (I31V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197194	NM_001161499.2(ZNF611):c.82G>A (p.Asp28Asn)	ZNF611 (D28N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3258907	NM_001161499.2(ZNF611):c.41A>G (p.Glu14Gly)	ZNF611 (E14G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258957	NM_001161499.2(ZNF611):c.29G>A (p.Arg10Lys)	ZNF611 (R10K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510629	NM_001161499.2(ZNF611):c.13G>A (p.Glu5Lys)	ZNF611 (E5K)	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 980769	GRCh37/hg19 19q13.41(chr19:53057478-53428612)x1	ZNF28, ZNF320 +7 more	Copy number loss	not provided	GLikely benign
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 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 592169	t(X;19)(p21.2;q13.41)dn	IL1RAPL1, ZNF611	Translocation	not specified	GUncertain significance

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Items: 83