136051[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 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 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 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 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	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 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 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 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 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 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 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	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 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	ABCB8, ABCF2 +737 more	Copy number loss	See cases	GPathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	LOC129999721, LOC129999722 +707 more	Copy number loss	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 60302	GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1	LOC129999681, LOC129999682 +573 more	Copy number loss	See cases	GPathogenic
Select item 57118	GRCh38/hg38 7q35-36.1(chr7:143884559-152674271)x1	ABCB8, ABCF2 +358 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 148263	GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1	LOC129999684, LOC129999685 +538 more	Copy number loss	See cases	GLikely pathogenic
Select item 60312	GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1	LOC129999655, LOC129999656 +533 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 155436	GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1	UBE3C, VIPR2 +526 more	Copy number loss	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 146558	GRCh38/hg38 7q35-36.2(chr7:147345844-153833351)x3	ABCB8, ABCF2 +329 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
Select item 60313	GRCh38/hg38 7q36.1(chr7:148256584-152332535)x1	ABCB8, ABCF2 +293 more	Copy number loss	See cases	GPathogenic
Select item 2208552	NM_152411.4(ZNF786):c.2314C>G (p.Gln772Glu)	ZNF786 (Q772E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251698	NM_152411.4(ZNF786):c.2263A>G (p.Thr755Ala)	ZNF786 (T755A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198395	NM_152411.4(ZNF786):c.2217G>C (p.Lys739Asn)	ZNF786 (K739N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600958	NM_152411.4(ZNF786):c.2208T>A (p.Asp736Glu)	ZNF786 (D736E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371306	NM_152411.4(ZNF786):c.1984A>G (p.Lys662Glu)	ZNF786 (K662E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387565	NM_152411.4(ZNF786):c.1980C>G (p.His660Gln)	ZNF786 (H660Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3198393	NM_152411.4(ZNF786):c.1951T>A (p.Cys651Ser)	ZNF786 (C651S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198392	NM_152411.4(ZNF786):c.1949C>T (p.Ser650Phe)	ZNF786 (S650F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198391	NM_152411.4(ZNF786):c.1949C>G (p.Ser650Cys)	ZNF786 (S650C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242989	NM_152411.4(ZNF786):c.1941G>T (p.Met647Ile)	ZNF786 (M647I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215706	NM_152411.4(ZNF786):c.1941G>A (p.Met647Ile)	ZNF786 (M647I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555470	NM_152411.4(ZNF786):c.1913C>T (p.Ala638Val)	ZNF786 (A638V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198390	NM_152411.4(ZNF786):c.1903G>T (p.Asp635Tyr)	ZNF786 (D635Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240744	NM_152411.4(ZNF786):c.1891C>T (p.Arg631Cys)	ZNF786 (R631C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198388	NM_152411.4(ZNF786):c.1871C>T (p.Pro624Leu)	ZNF786 (P624L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259561	NM_152411.4(ZNF786):c.1837C>A (p.Arg613Ser)	ZNF786 (R613S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334445	NM_152411.4(ZNF786):c.1739T>C (p.Leu580Pro)	ZNF786 (L580P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198387	NM_152411.4(ZNF786):c.1709G>A (p.Cys570Tyr)	ZNF786 (C570Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246174	NM_152411.4(ZNF786):c.1640G>A (p.Arg547His)	ZNF786 (R547H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323569	NM_152411.4(ZNF786):c.1597G>C (p.Gly533Arg)	ZNF786 (G533R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592111	NM_152411.4(ZNF786):c.1549G>A (p.Gly517Ser)	ZNF786 (G517S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198386	NM_152411.4(ZNF786):c.1514G>A (p.Gly505Glu)	ZNF786 (G505E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256627	NM_152411.4(ZNF786):c.1507C>A (p.His503Asn)	ZNF786 (H503N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371326	NM_152411.4(ZNF786):c.1417C>T (p.Arg473Trp)	ZNF786 (R473W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198385	NM_152411.4(ZNF786):c.1363T>G (p.Cys455Gly)	ZNF786 (C455G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353857	NM_152411.4(ZNF786):c.1321A>G (p.Thr441Ala)	ZNF786 (T441A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259563	NM_152411.4(ZNF786):c.1261G>A (p.Gly421Arg)	ZNF786 (G421R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198382	NM_152411.4(ZNF786):c.1255C>T (p.His419Tyr)	ZNF786 (H419Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357390	NM_152411.4(ZNF786):c.1229G>C (p.Arg410Pro)	ZNF786 (R410P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198381	NM_152411.4(ZNF786):c.1174A>C (p.Thr392Pro)	ZNF786 (T392P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198380	NM_152411.4(ZNF786):c.1140G>A (p.Met380Ile)	ZNF786 (M380I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282205	NM_152411.4(ZNF786):c.1138A>G (p.Met380Val)	ZNF786 (M380V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356462	NM_152411.4(ZNF786):c.1096G>C (p.Glu366Gln)	ZNF786 (E366Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243616	NM_152411.4(ZNF786):c.1049G>A (p.Gly350Glu)	ZNF786 (G350E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2391688	NM_152411.4(ZNF786):c.1043A>G (p.Gln348Arg)	ZNF786 (Q348R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491534	NM_152411.4(ZNF786):c.968C>A (p.Pro323Gln)	ZNF786 (P323Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216458	NM_152411.4(ZNF786):c.886G>A (p.Ala296Thr)	ZNF786 (A296T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386625	NM_152411.4(ZNF786):c.883C>T (p.Pro295Ser)	ZNF786 (P295S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259564	NM_152411.4(ZNF786):c.874G>T (p.Gly292Trp)	ZNF786 (G292W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620751	NM_152411.4(ZNF786):c.841C>G (p.Leu281Val)	ZNF786 (L281V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491261	NM_152411.4(ZNF786):c.838G>C (p.Glu280Gln)	ZNF786 (E280Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536238	NM_152411.4(ZNF786):c.837C>G (p.His279Gln)	ZNF786 (H279Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533438	NM_152411.4(ZNF786):c.830T>G (p.Phe277Cys)	ZNF786 (F277C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229030	NM_152411.4(ZNF786):c.817G>A (p.Gly273Ser)	ZNF786 (G273S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324721	NM_152411.4(ZNF786):c.816C>G (p.Asp272Glu)	ZNF786 (D272E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3198398	NM_152411.4(ZNF786):c.814G>C (p.Asp272His)	ZNF786 (D272H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356531	NM_152411.4(ZNF786):c.796G>T (p.Gly266Cys)	ZNF786 (G266C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259562	NM_152411.4(ZNF786):c.749G>A (p.Arg250His)	ZNF786 (R250H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240548	NM_152411.4(ZNF786):c.728G>A (p.Gly243Asp)	ZNF786 (G243D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306401	NM_152411.4(ZNF786):c.694A>G (p.Ser232Gly)	ZNF786 (S232G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198397	NM_152411.4(ZNF786):c.691T>A (p.Trp231Arg)	ZNF786 (W231R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2288914	NM_152411.4(ZNF786):c.691T>G (p.Trp231Gly)	ZNF786 (W231G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600960	NM_152411.4(ZNF786):c.586T>C (p.Cys196Arg)	ZNF786 (C196R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600959	NM_152411.4(ZNF786):c.560A>G (p.His187Arg)	ZNF786 (H187R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222184	NM_152411.4(ZNF786):c.521C>T (p.Pro174Leu)	ZNF786 (P174L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198396	NM_152411.4(ZNF786):c.491G>A (p.Gly164Glu)	ZNF786 (G164E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390364	NM_152411.4(ZNF786):c.481C>A (p.Leu161Ile)	ZNF786 (L161I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608866	NM_152411.4(ZNF786):c.394C>T (p.Pro132Ser)	ZNF786 (P132S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2487629	NM_152411.4(ZNF786):c.365G>A (p.Cys122Tyr)	ZNF786 (C122Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212375	NM_152411.4(ZNF786):c.360C>G (p.Ser120Arg)	ZNF786 (S120R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349283	NM_152411.4(ZNF786):c.260T>C (p.Met87Thr)	ZNF786 (M87T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198394	NM_152411.4(ZNF786):c.214A>G (p.Arg72Gly)	ZNF786 (R72G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2323195	NM_152411.4(ZNF786):c.190G>A (p.Gly64Arg)	ZNF786 (G64R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198383	NM_152411.4(ZNF786):c.133C>T (p.Leu45Phe)	ZNF786 (L45F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525948	NM_152411.4(ZNF786):c.58G>A (p.Glu20Lys)	ZNF786 (E20K)	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

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