ClinVar for Gene (Select 81856) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 592169	t(X;19)(p21.2;q13.41)dn	IL1RAPL1, ZNF611	Translocation	not specified	GUncertain significance
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 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 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 145088	GRCh38/hg38 19q13.41(chr19:52616146-52929716)x3	LOC122539214, LOC125384532 +15 more	Copy number gain	See cases	GUncertain significance
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 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 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 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 83