ClinVar for Gene (Select 168544) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3322844	NR_163594.1(SSPO):n.149G>T	ZNF467	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3258185	NM_207336.3(ZNF467):c.1259T>C (p.Val420Ala)	ZNF467 (V420A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3258184	NM_207336.3(ZNF467):c.768G>C (p.Lys256Asn)	ZNF467 (K256N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3258183	NM_207336.3(ZNF467):c.1138G>A (p.Glu380Lys)	ZNF467 (E380K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3258182	NM_207336.3(ZNF467):c.559C>G (p.Pro187Ala)	ZNF467 (P187A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3258181	NM_207336.3(ZNF467):c.627C>G (p.Ser209Arg)	ZNF467 (S209R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3258180	NM_207336.3(ZNF467):c.681G>C (p.Lys227Asn)	ZNF467 (K227N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195963	NM_207336.3(ZNF467):c.721G>A (p.Glu241Lys)	ZNF467 (E241K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195962	NM_207336.3(ZNF467):c.574G>C (p.Asp192His)	ZNF467 (D192H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195961	NM_207336.3(ZNF467):c.571C>A (p.Pro191Thr)	ZNF467 (P191T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195960	NM_207336.3(ZNF467):c.467C>G (p.Pro156Arg)	ZNF467 (P156R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195959	NM_207336.3(ZNF467):c.359G>T (p.Ser120Ile)	ZNF467 (S120I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195958	NM_207336.3(ZNF467):c.1780T>C (p.Phe594Leu)	ZNF467 (F594L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195957	NM_207336.3(ZNF467):c.1772C>T (p.Pro591Leu)	ZNF467 (P591L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195956	NM_207336.3(ZNF467):c.1503C>G (p.His501Gln)	ZNF467 (H501Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195954	NM_207336.3(ZNF467):c.1447G>A (p.Gly483Ser)	ZNF467 (G483S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195953	NM_207336.3(ZNF467):c.1237G>C (p.Gly413Arg)	ZNF467 (G413R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195952	NM_207336.3(ZNF467):c.1214G>C (p.Ser405Thr)	ZNF467 (S405T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195951	NM_207336.3(ZNF467):c.1100A>G (p.Lys367Arg)	ZNF467 (K367R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170463	NR_163594.1(SSPO):n.53G>A	ZNF467	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3148948	GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3	ABCB8, ABCF2 +125 more	Copy number gain	See cases	GPathogenic
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 3062962	GRCh37/hg19 7q36.1(chr7:148896264-150963866)x1	LOC100134040, LRRC61 +40 more	Copy number loss	not specified	GPathogenic
Select item 2685275	GRCh37/hg19 7q36.1(chr7:148538593-150967829)x1	TMEM176B, ZNF425 +49 more	Copy number loss	not provided	GPathogenic
Select item 2685274	GRCh37/hg19 7q35-36.3(chr7:144940098-159119707)x1	INSIG1, PDIA4 +80 more	Copy number loss	not provided	GPathogenic
Select item 2685272	GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1	CLCN1, RHEB +123 more	Copy number loss	not provided	GPathogenic
Select item 2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	ARHGEF35, KEL +169 more	Copy number loss	not provided	GPathogenic
Select item 2658148	NR_163594.1(SSPO):n.200G>A	ZNF467	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 2618604	NM_207336.3(ZNF467):c.1373C>T (p.Pro458Leu)	ZNF467 (P458L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613678	NM_207336.3(ZNF467):c.1022C>T (p.Thr341Ile)	ZNF467 (T341I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600130	NM_207336.3(ZNF467):c.1678C>T (p.Arg560Trp)	ZNF467 (R560W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2583057	GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1	NDUFB2, NOBOX +125 more	Copy number loss	not provided	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2569246	NR_163594.1(SSPO):n.197C>T	ZNF467	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2557166	NM_207336.3(ZNF467):c.1292T>C (p.Phe431Ser)	ZNF467 (F431S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548580	NM_207336.3(ZNF467):c.725G>T (p.Arg242Leu)	ZNF467 (R242L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539028	NM_207336.3(ZNF467):c.632G>A (p.Arg211His)	ZNF467 (R211H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534792	NM_207336.3(ZNF467):c.1394A>G (p.Asp465Gly)	ZNF467 (D465G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2534790	NM_207336.3(ZNF467):c.1384A>G (p.Thr462Ala)	ZNF467 (T462A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2533842	NM_207336.3(ZNF467):c.719G>A (p.Gly240Asp)	ZNF467 (G240D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527383	NM_207336.3(ZNF467):c.170C>T (p.Pro57Leu)	ZNF467 (P57L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2513394	NM_207336.3(ZNF467):c.1501C>G (p.His501Asp)	ZNF467 (H501D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511144	NM_207336.3(ZNF467):c.298G>A (p.Asp100Asn)	ZNF467 (D100N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490832	NM_207336.3(ZNF467):c.1646G>A (p.Gly549Glu)	ZNF467 (G549E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490114	NM_207336.3(ZNF467):c.661T>C (p.Cys221Arg)	ZNF467 (C221R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485734	NM_207336.3(ZNF467):c.333G>T (p.Trp111Cys)	ZNF467 (W111C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484082	NM_207336.3(ZNF467):c.1215C>A (p.Ser405Arg)	ZNF467 (S405R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480692	NM_207336.3(ZNF467):c.178G>A (p.Gly60Ser)	ZNF467 (G60S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470963	NR_163594.1(SSPO):n.185G>A	ZNF467	Single nucleotide variant (non-coding transcript variant)	not specified	GLikely benign
Select item 2463364	NM_207336.3(ZNF467):c.334C>A (p.Pro112Thr)	ZNF467 (P112T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462839	NM_207336.3(ZNF467):c.208T>C (p.Cys70Arg)	ZNF467 (C70R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459572	NM_207336.3(ZNF467):c.551G>C (p.Gly184Ala)	ZNF467 (G184A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457923	NR_163594.1(SSPO):n.80G>A	ZNF467	Single nucleotide variant (non-coding transcript variant)	not specified	GLikely benign
Select item 2457922	NR_163594.1(SSPO):n.76A>C	ZNF467	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2457216	NM_207336.3(ZNF467):c.650C>T (p.Pro217Leu)	ZNF467 (P217L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425346	NC_000007.13:g.(?_130781014)_(150301047_?)del	CTAGE6, CTAGE8 +141 more	Deletion	not provided	GPathogenic
Select item 2401159	NM_207336.3(ZNF467):c.1504C>G (p.Leu502Val)	ZNF467 (L502V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390600	NM_207336.3(ZNF467):c.325G>T (p.Val109Phe)	ZNF467 (V109F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370929	NR_163594.1(SSPO):n.74C>G	ZNF467	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2367655	NM_207336.3(ZNF467):c.547C>T (p.Arg183Trp)	ZNF467 (R183W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357220	NM_207336.3(ZNF467):c.1455G>C (p.Arg485Ser)	ZNF467 (R485S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353549	NM_207336.3(ZNF467):c.1577C>G (p.Ser526Cys)	ZNF467 (S526C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346718	NM_207336.3(ZNF467):c.1757C>G (p.Pro586Arg)	ZNF467 (P586R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341297	NR_163594.1(SSPO):n.185G>T	ZNF467	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2339529	NM_207336.3(ZNF467):c.265G>A (p.Glu89Lys)	ZNF467 (E89K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333861	NM_207336.3(ZNF467):c.178G>T (p.Gly60Cys)	ZNF467 (G60C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314622	NM_207336.3(ZNF467):c.1573A>T (p.Ser525Cys)	ZNF467 (S525C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293317	NR_163594.1(SSPO):n.160C>T	ZNF467	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2268390	NM_207336.3(ZNF467):c.1174G>T (p.Gly392Cys)	ZNF467 (G392C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267546	NM_207336.3(ZNF467):c.400T>A (p.Tyr134Asn)	ZNF467 (Y134N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258773	NR_163594.1(SSPO):n.179G>A	ZNF467	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2247315	NM_207336.3(ZNF467):c.60G>C (p.Met20Ile)	ZNF467 (M20I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226400	NM_207336.3(ZNF467):c.1492C>A (p.Arg498Ser)	ZNF467 (R498S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220881	NM_207336.3(ZNF467):c.581G>A (p.Gly194Asp)	ZNF467 (G194D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214168	NM_207336.3(ZNF467):c.1756C>T (p.Pro586Ser)	ZNF467 (P586S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213929	NM_207336.3(ZNF467):c.1696G>A (p.Gly566Ser)	ZNF467 (G566S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208853	NM_207336.3(ZNF467):c.583C>T (p.Arg195Cys)	ZNF467 (R195C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1807607	GRCh37/hg19 7q36.1(chr7:149332630-151498689)x1	ABCB8, ABCF2 +40 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1341986	GRCh37/hg19 7q36.1-36.3(chr7:149062717-159124131)x1	ACTR3C, AGAP3 +65 more	Copy number loss	not provided	GPathogenic
Select item 1341970	GRCh37/hg19 7q35-36.3(chr7:146927174-159128556)x3	CUL1, DNAJB6 +80 more	Copy number gain	not provided	GPathogenic
Select item 1341257	GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3	ABCB8, ABCF2 +186 more	Copy number gain	not provided	GPathogenic
Select item 1340734	GRCh37/hg19 7q36.1-36.3(chr7:148153261-157543640)x3	ACTR3C, ABCB8 +75 more	Copy number gain	not provided	GPathogenic
Select item 1340055	GRCh37/hg19 7q36.1-36.3(chr7:148695373-159119707)x1	ABCB8, ABCF2 +72 more	Copy number loss	not provided	GPathogenic
Select item 979809	GRCh37/hg19 7q36.1(chr7:149365302-149863491)x3	LOC100134040, ATP6V0E2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 973042	GRCh37/hg19 7q35-36.3(chr7:143107740-156886246)x3	ABCB8, ABCF2 +96 more	Copy number gain	not provided	Gnot provided
Select item 972930	GRCh37/hg19 7q35-36.1(chr7:147897705-149874566)x3	ATP6V0E2, C7orf33 +20 more	Copy number loss	not provided	Gnot provided
Select item 816507	GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1	ABCB8, ABCF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 815045	GRCh37/hg19 7q35-36.3(chr7:145962558-159119707)x1	NOM1, NOS3 +80 more	Copy number loss	not provided	GPathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 688878	GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3	OR2A25, OR2A42 +192 more	Copy number gain	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 684492	Single allele	ATP6V0E2, C7orf33 +20 more	Duplication	not provided	Gnot provided
Select item 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563421	GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1	ABCB8, ABCF2 +143 more	Copy number loss	not provided	GPathogenic
Select item 442966	GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1	ABCB8, ABCF2 +162 more	Copy number loss	See cases	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic

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