ClinVar for Gene (Select 57541) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3335652	NM_170686.3(ZNF398):c.1253G>A (p.Arg418Gln)	ZNF398 (R247Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335651	NM_170686.3(ZNF398):c.337C>G (p.Leu113Val)	ZNF398 (L113V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3335650	NM_170686.3(ZNF398):c.1261A>T (p.Asn421Tyr)	ZNF398 (N250Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335648	NM_170686.3(ZNF398):c.1304G>A (p.Arg435His)	ZNF398 (R264H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195526	NM_170686.3(ZNF398):c.746A>C (p.Glu249Ala)	ZNF398 (E249A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195525	NM_170686.3(ZNF398):c.319G>A (p.Gly107Arg)	ZNF398 (G107R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3195524	NM_170686.3(ZNF398):c.1822C>T (p.Pro608Ser)	ZNF398 (P437S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195523	NM_170686.3(ZNF398):c.1694G>A (p.Arg565Gln)	ZNF398 (R565Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195522	NM_170686.3(ZNF398):c.1241C>T (p.Thr414Ile)	ZNF398 (T243I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195521	NM_170686.3(ZNF398):c.1228C>T (p.Pro410Ser)	ZNF398 (P410S +1 more)	Single nucleotide variant (missense 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 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 2685273	GRCh37/hg19 7q35-36.1(chr7:144075624-149323060)x1	C7orf33, CNTNAP2 +18 more	Copy number loss	not provided	GUncertain significance
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 2615114	NM_170686.3(ZNF398):c.1730G>A (p.Arg577His)	ZNF398 (R577H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610445	NM_170686.3(ZNF398):c.965G>A (p.Gly322Glu)	ZNF398 (G322E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610444	NM_170686.3(ZNF398):c.818C>T (p.Ser273Leu)	ZNF398 (S102L +1 more)	Single nucleotide variant (missense variant)	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 2547409	NM_170686.3(ZNF398):c.274C>A (p.Leu92Met)	ZNF398 (L92M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2520416	NM_170686.3(ZNF398):c.914C>T (p.Ser305Phe)	ZNF398 (S134F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512367	NM_170686.3(ZNF398):c.1772A>G (p.Asn591Ser)	ZNF398 (N420S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 2482404	NM_170686.3(ZNF398):c.721G>A (p.Val241Ile)	ZNF398 (V241I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476602	NM_170686.3(ZNF398):c.391C>T (p.Pro131Ser)	ZNF398 (P131S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2468158	NM_170686.3(ZNF398):c.1006C>A (p.Pro336Thr)	ZNF398 (P336T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425346	NC_000007.13:g.(?_130781014)_(150301047_?)del	CTAGE6, CTAGE8 +141 more	Deletion	not provided	GPathogenic
Select item 2404515	NM_170686.3(ZNF398):c.1819C>G (p.Pro607Ala)	ZNF398 (P436A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392893	NM_170686.3(ZNF398):c.910A>G (p.Thr304Ala)	ZNF398 (T133A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2351638	NM_170686.3(ZNF398):c.1174C>T (p.His392Tyr)	ZNF398 (H221Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350808	NM_170686.3(ZNF398):c.764G>A (p.Ser255Asn)	ZNF398 (S84N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345983	NM_170686.3(ZNF398):c.1031C>T (p.Ser344Leu)	ZNF398 (S173L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344158	NM_170686.3(ZNF398):c.1366C>T (p.Arg456Cys)	ZNF398 (R285C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328732	NM_170686.3(ZNF398):c.1111C>T (p.Pro371Ser)	ZNF398 (P200S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313679	NM_170686.3(ZNF398):c.787G>A (p.Val263Ile)	ZNF398 (V263I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312291	NM_170686.3(ZNF398):c.1468A>G (p.Ile490Val)	ZNF398 (I490V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311016	NM_170686.3(ZNF398):c.1193C>T (p.Pro398Leu)	ZNF398 (P227L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310240	NM_170686.3(ZNF398):c.1423C>T (p.Arg475Trp)	ZNF398 (R475W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291221	NM_170686.3(ZNF398):c.527A>G (p.Tyr176Cys)	ZNF398 (Y176C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289550	NM_170686.3(ZNF398):c.1322G>A (p.Arg441Gln)	ZNF398 (R441Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279856	NM_170686.3(ZNF398):c.556A>G (p.Ile186Val)	ZNF398 (I186V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262316	NM_170686.3(ZNF398):c.801A>T (p.Glu267Asp)	ZNF398 (E96D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254649	NM_170686.3(ZNF398):c.1625C>T (p.Pro542Leu)	ZNF398 (P371L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254232	NM_170686.3(ZNF398):c.1501C>T (p.His501Tyr)	ZNF398 (H501Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253425	NM_170686.3(ZNF398):c.160G>C (p.Glu54Gln)	ZNF398 (E54Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2224019	NM_170686.3(ZNF398):c.1799C>T (p.Pro600Leu)	ZNF398 (P600L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807754	GRCh37/hg19 7q32.3-36.1(chr7:131779213-149042734)x1	RAB19, RNY1 +123 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 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 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
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442595	GRCh37/hg19 7q34-36.3(chr7:140636858-159119707)x1	ABCB8, ABCF2 +138 more	Copy number loss	See cases	GPathogenic
Select item 442236	GRCh37/hg19 7q36.1(chr7:148189771-150867270)x4	ABCB8, ACTR3C +46 more	Copy number gain	See cases	GUncertain significance
Select item 441751	GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3	DGKI, DNAJB6 +166 more	Copy number gain	See cases	GPathogenic
Select item 226277	GRCh37/hg19 7q35-36.3(chr7:143839360-159138663)	CRYGN, CTAGE4 +89 more	Copy number loss	Abnormal esophagus morphology	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 155436	GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1	UBE3C, VIPR2 +526 more	Copy number loss	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 149558	GRCh38/hg38 7q35-36.1(chr7:143596735-150089125)x4	ACTR3C, ARHGEF35 +172 more	Copy number gain	See cases	GLikely pathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	See cases	GPathogenic
Select item 148943	GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1	ABCB8, ABCF2 +540 more	Copy number loss	See cases	GPathogenic
Select item 148715	GRCh38/hg38 7q35-36.3(chr7:146047157-157522158)x1	ABCB8, ABCF2 +473 more	Copy number loss	See cases	GPathogenic
Select item 148263	GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1	LOC129999684, LOC129999685 +538 more	Copy number loss	See cases	GLikely pathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	LOC129999721, LOC129999722 +707 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	GPathogenic
Select item 146558	GRCh38/hg38 7q35-36.2(chr7:147345844-153833351)x3	ABCB8, ABCF2 +329 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 60313	GRCh38/hg38 7q36.1(chr7:148256584-152332535)x1	ABCB8, ABCF2 +293 more	Copy number loss	See cases	GPathogenic
Select item 60312	GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1	LOC129999655, LOC129999656 +533 more	Copy number loss	See cases	GPathogenic
Select item 60302	GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1	LOC129999681, LOC129999682 +573 more	Copy number loss	See cases	GPathogenic
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	ABCB8, ABCF2 +737 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
Select item 57408	GRCh38/hg38 7q35-36.3(chr7:147250465-159325876)x1	ABCB8, ABCF2 +526 more	Copy number loss	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	TRC-GCA9-3, TRC-GCA9-4 +1019 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 57185	GRCh38/hg38 7q35-36.1(chr7:147345844-150426340)x1	ACTR3C, ATP6V0E2 +142 more	Copy number loss	See cases	GPathogenic

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