ClinVar for Gene (Select 100289678) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3259549	NM_001195220.2(ZNF783):c.782C>A (p.Ala261Asp)	ZNF783 (A261D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259548	NM_001195220.2(ZNF783):c.1187C>G (p.Pro396Arg)	ZNF783 (P396R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198367	NM_001195220.2(ZNF783):c.941G>A (p.Arg314His)	ZNF783 (R314H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198366	NM_001195220.2(ZNF783):c.908G>A (p.Arg303Gln)	ZNF783 (R303Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198365	NM_001195220.2(ZNF783):c.844G>A (p.Glu282Lys)	ZNF783 (E282K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198364	NM_001195220.2(ZNF783):c.7G>A (p.Glu3Lys)	LOC129999553, ZNF783 (E3K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198363	NM_001195220.2(ZNF783):c.613C>T (p.Arg205Trp)	ZNF783 (R205W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198362	NM_001195220.2(ZNF783):c.448G>A (p.Val150Met)	ZNF783 (V150M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198361	NM_001195220.2(ZNF783):c.378G>T (p.Trp126Cys)	ZNF783 (W126C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198360	NM_001195220.2(ZNF783):c.335G>A (p.Arg112Gln)	ZNF783 (R112Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198359	NM_001195220.2(ZNF783):c.1592G>T (p.Arg531Leu)	ZNF783 (R531L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198358	NM_001195220.2(ZNF783):c.1130A>G (p.Gln377Arg)	ZNF783 (Q377R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3198357	NM_001195220.2(ZNF783):c.1108A>C (p.Thr370Pro)	ZNF783 (T370P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198356	NM_001195220.2(ZNF783):c.1063G>A (p.Gly355Arg)	ZNF783 (G355R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198355	NM_001195220.2(ZNF783):c.1040G>A (p.Arg347Gln)	ZNF783 (R347Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198354	NM_001195220.2(ZNF783):c.1039C>T (p.Arg347Trp)	ZNF783 (R347W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198353	NM_001195220.2(ZNF783):c.1034G>A (p.Arg345Gln)	ZNF783 (R345Q)	Single nucleotide variant (missense variant +1 more)	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 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 2622191	NM_001195220.2(ZNF783):c.132G>C (p.Trp44Cys)	ZNF783 (W44C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621105	NM_001195220.2(ZNF783):c.1249C>T (p.Arg417Cys)	ZNF783 (R417C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618605	NM_001195220.2(ZNF783):c.1027C>T (p.Arg343Cys)	ZNF783 (R343C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588747	NM_001195220.2(ZNF783):c.580C>T (p.Arg194Trp)	ZNF783 (R194W)	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 2568743	NM_001195220.2(ZNF783):c.265G>A (p.Gly89Arg)	ZNF783 (G89R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2561436	NM_001195220.2(ZNF783):c.334C>T (p.Arg112Trp)	ZNF783 (R112W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541567	NM_001195220.2(ZNF783):c.145G>A (p.Ala49Thr)	ZNF783 (A49T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534800	NM_001195220.2(ZNF783):c.1384G>A (p.Gly462Ser)	ZNF783 (G462S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2534799	NM_001195220.2(ZNF783):c.1303A>C (p.Met435Leu)	ZNF783 (M435L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526803	NM_001195220.2(ZNF783):c.578C>G (p.Thr193Ser)	ZNF783 (T193S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518405	NM_001195220.2(ZNF783):c.385C>T (p.Arg129Trp)	ZNF783 (R129W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515904	NM_001195220.2(ZNF783):c.359T>C (p.Leu120Pro)	ZNF783 (L120P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514946	NM_001195220.2(ZNF783):c.134C>T (p.Thr45Met)	ZNF783 (T45M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508593	NM_001195220.2(ZNF783):c.188G>A (p.Arg63His)	ZNF783 (R63H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492828	NM_001195220.2(ZNF783):c.1217T>C (p.Ile406Thr)	ZNF783 (I406T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491174	NM_001195220.2(ZNF783):c.556A>G (p.Ile186Val)	ZNF783 (I186V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487695	NM_001195220.2(ZNF783):c.1631A>G (p.Glu544Gly)	ZNF783 (E544G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486191	NM_001195220.2(ZNF783):c.406G>T (p.Gly136Trp)	ZNF783 (G136W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480320	NM_001195220.2(ZNF783):c.917G>A (p.Arg306Lys)	ZNF783 (R306K)	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 2390515	NM_001195220.2(ZNF783):c.581G>A (p.Arg194Gln)	ZNF783 (R194Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390400	NM_001195220.2(ZNF783):c.778G>C (p.Val260Leu)	ZNF783 (V260L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380140	NM_001195220.2(ZNF783):c.851C>T (p.Thr284Met)	ZNF783 (T284M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2375320	NM_001195220.2(ZNF783):c.314A>C (p.Glu105Ala)	ZNF783 (E105A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373582	NM_001195220.2(ZNF783):c.115A>G (p.Thr39Ala)	ZNF783 (T39A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372175	NM_001195220.2(ZNF783):c.395C>T (p.Pro132Leu)	ZNF783 (P132L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370572	NM_001195220.2(ZNF783):c.80A>G (p.Gln27Arg)	ZNF783 (Q27R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356461	NM_001195220.2(ZNF783):c.1028G>A (p.Arg343His)	ZNF783 (R343H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355904	NM_001195220.2(ZNF783):c.386G>A (p.Arg129Gln)	ZNF783 (R129Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347403	NM_001195220.2(ZNF783):c.718G>A (p.Ala240Thr)	ZNF783 (A240T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342084	NM_001195220.2(ZNF783):c.1415G>T (p.Gly472Val)	ZNF783 (G472V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341443	NM_001195220.2(ZNF783):c.1502G>A (p.Arg501Gln)	ZNF783 (R501Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338182	NM_001195220.2(ZNF783):c.343A>G (p.Asn115Asp)	ZNF783 (N115D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337280	NM_001195220.2(ZNF783):c.14C>A (p.Ala5Glu)	LOC129999553, ZNF783 (A5E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333218	NM_001195220.2(ZNF783):c.1136C>T (p.Ala379Val)	ZNF783 (A379V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329760	NM_001195220.2(ZNF783):c.758A>G (p.Gln253Arg)	ZNF783 (Q253R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326800	NM_001195220.2(ZNF783):c.970C>T (p.Arg324Trp)	ZNF783 (R324W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303055	NM_001195220.2(ZNF783):c.1072T>C (p.Phe358Leu)	ZNF783 (F358L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302855	NM_001195220.2(ZNF783):c.1604T>A (p.Leu535Gln)	ZNF783 (L535Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298093	NM_001195220.2(ZNF783):c.165G>C (p.Lys55Asn)	ZNF783 (K55N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289246	NM_001195220.2(ZNF783):c.756G>T (p.Gln252His)	ZNF783 (Q252H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2288897	NM_001195220.2(ZNF783):c.1048C>T (p.Pro350Ser)	ZNF783 (P350S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288475	NM_001195220.2(ZNF783):c.1537A>G (p.Met513Val)	ZNF783 (M513V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285425	NM_001195220.2(ZNF783):c.145G>T (p.Ala49Ser)	ZNF783 (A49S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259788	NM_001195220.2(ZNF783):c.956G>A (p.Gly319Asp)	ZNF783 (G319D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252227	NM_001195220.2(ZNF783):c.962C>T (p.Pro321Leu)	ZNF783 (P321L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249873	NM_001195220.2(ZNF783):c.1624C>G (p.Arg542Gly)	ZNF783 (R542G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233763	NM_001195220.2(ZNF783):c.1592G>A (p.Arg531His)	ZNF783 (R531H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226649	NM_001195220.2(ZNF783):c.1613C>T (p.Pro538Leu)	ZNF783 (P538L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223716	NM_001195220.2(ZNF783):c.652C>A (p.Arg218Ser)	ZNF783 (R218S)	Single nucleotide variant (missense variant +1 more)	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

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