23036[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996786, LOC129996787 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155438	GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1	LOC129996748, LOC129996749 +299 more	Copy number loss	See cases	GPathogenic
Select item 58438	GRCh38/hg38 6q14.1-16.1(chr6:82569098-93753476)x1	AKIRIN2, ANKRD6 +220 more	Copy number loss	See cases	GPathogenic
Select item 146487	GRCh38/hg38 6q14.2-16.1(chr6:83838303-98822313)x1	LOC121740658, LOC123775380 +247 more	Copy number loss	See cases	GPathogenic
Select item 148698	GRCh38/hg38 6q14.3-15(chr6:84926864-87365441)x1	C6orf163, CGA +34 more	Copy number loss	See cases	GLikely pathogenic
Select item 147590	GRCh38/hg38 6q14.3-15(chr6:85370716-90669793)x1	AKIRIN2, ANKRD6 +157 more	Copy number loss	See cases	GPathogenic
Select item 146127	GRCh38/hg38 6q14.3-16.1(chr6:85804273-93189258)x1	RARS2, RNGTT +153 more	Copy number loss	See cases	GPathogenic
Select item 146699	GRCh38/hg38 6q14.3-15(chr6:86259565-87312972)x3	CGA, GJB7 +13 more	Copy number gain	See cases	GUncertain significance
Select item 152415	GRCh38/hg38 6q14.3-15(chr6:87050381-87535518)x1	C6orf163, CFAP206 +16 more	Copy number loss	See cases	GUncertain significance
Select item 2573037	NM_015021.3(ZNF292):c.2T>G (p.Met1Arg)	LOC129996783, ZNF292 (M1R)	Single nucleotide variant (5 prime UTR variant +2 more)	Intellectual developmental disorder, autosomal dominant 64	GUncertain significance
Select item 3032452	NM_015021.3(ZNF292):c.19G>A (p.Glu7Lys)	LOC129996783, ZNF292 (E7K)	Single nucleotide variant (5 prime UTR variant +1 more)	ZNF292-related disorder	GUncertain significance
Select item 3055234	NM_015021.3(ZNF292):c.39C>T (p.Cys13=)	LOC129996783, ZNF292	Single nucleotide variant (5 prime UTR variant +1 more)	ZNF292-related disorder	GLikely benign
Select item 2250076	NM_015021.3(ZNF292):c.40G>A (p.Gly14Ser)	LOC129996783, ZNF292 (G14S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2390018	NM_015021.3(ZNF292):c.47G>C (p.Gly16Ala)	LOC129996783, ZNF292 (G16A)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2386548	NM_015021.3(ZNF292):c.58G>A (p.Ala20Thr)	LOC129996783, ZNF292 (A20T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2576539	NM_015021.3(ZNF292):c.61G>C (p.Glu21Gln)	LOC129996783, ZNF292 (E21Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual developmental disorder, autosomal dominant 64	GLikely pathogenic
Select item 2349899	NM_015021.3(ZNF292):c.68A>C (p.Gln23Pro)	LOC129996783, ZNF292 (Q23P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 2576756	NM_015021.3(ZNF292):c.79G>C (p.Glu27Gln)	LOC129996783, ZNF292 (E27Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1315681	NM_015021.3(ZNF292):c.82C>T (p.Arg28Trp)	LOC129996783, ZNF292 (R28W)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1318490	NM_015021.3(ZNF292):c.118C>T (p.Arg40Trp)	LOC129996783, ZNF292 (R40W)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2304088	NM_015021.3(ZNF292):c.175C>G (p.Leu59Val)	ZNF292 (L59V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2632148	NM_015021.3(ZNF292):c.184G>A (p.Ala62Thr)	ZNF292 (A62T)	Single nucleotide variant (5 prime UTR variant +1 more)	ZNF292-related disorder	GUncertain significance
Select item 2656735	NM_015021.3(ZNF292):c.189G>C (p.Glu63Asp)	ZNF292 (E63D)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 981386	NM_015021.3(ZNF292):c.265C>T (p.Arg89Ter)	ZNF292 (R89*)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability +1 more	GPathogenic/Likely pathogenic
Select item 2209240	NM_015021.3(ZNF292):c.269C>G (p.Pro90Arg)	ZNF292 (P90R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2537792	NM_015021.3(ZNF292):c.294T>G (p.Asn98Lys)	ZNF292 (N98K)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2443354	NM_015021.3(ZNF292):c.323+1G>A	ZNF292	Single nucleotide variant (splice donor variant)	Intellectual developmental disorder, autosomal dominant 64	GUncertain significance
Select item 1691049	NM_015021.3(ZNF292):c.352C>T (p.Pro118Ser)	ZNF292 (P118S)	Single nucleotide variant (5 prime UTR variant +1 more)	See cases	GUncertain significance
Select item 2585534	NM_015021.3(ZNF292):c.406G>A (p.Ala136Thr)	ZNF292 (A136T)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual developmental disorder, autosomal dominant 64	GUncertain significance
Select item 3061135	NM_015021.3(ZNF292):c.407C>T (p.Ala136Val)	ZNF292 (A136V)	Single nucleotide variant (5 prime UTR variant +1 more)	ZNF292-related disorder	GUncertain significance
Select item 982153	NM_015021.3(ZNF292):c.433del (p.Ser145fs)	ZNF292 (S145fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 1809906	NM_015021.3(ZNF292):c.436T>G (p.Cys146Gly)	ZNF292 (C146G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712712	NM_015021.3(ZNF292):c.463G>A (p.Ala155Thr)	ZNF292 (A155T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2291505	NM_015021.3(ZNF292):c.479T>C (p.Val160Ala)	ZNF292 (V20A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208109	NM_015021.3(ZNF292):c.502A>T (p.Thr168Ser)	ZNF292 (T168S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2438680	NM_015021.3(ZNF292):c.505A>C (p.Ile169Leu)	ZNF292 (I169L +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 64	GUncertain significance
Select item 2372056	NM_015021.3(ZNF292):c.505A>G (p.Ile169Val)	ZNF292 (I169V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2656736	NM_015021.3(ZNF292):c.515A>G (p.Gln172Arg)	ZNF292 (Q172R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1712881	NM_015021.3(ZNF292):c.583A>G (p.Arg195Gly)	ZNF292 (R195G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2292131	NM_015021.3(ZNF292):c.600C>G (p.Ile200Met)	ZNF292 (I200M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2682255	NM_015021.3(ZNF292):c.722A>G (p.Asn241Ser)	ZNF292 (N101S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3236241	NM_015021.3(ZNF292):c.741+5G>A	ZNF292	Single nucleotide variant (intron variant)	Intellectual developmental disorder, autosomal dominant 64	GUncertain significance
Select item 2499021	NM_015021.3(ZNF292):c.742-3T>G	ZNF292	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3194991	NM_015021.3(ZNF292):c.797A>G (p.Glu266Gly)	ZNF292 (E266G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2692479	NM_015021.3(ZNF292):c.814G>A (p.Ala272Thr)	ZNF292 (A272T +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 64	GLikely pathogenic
Select item 1464748	NM_015021.3(ZNF292):c.818T>C (p.Leu273Pro)	ZNF292 (L133P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2662987	NM_015021.3(ZNF292):c.824T>C (p.Leu275Ser)	ZNF292 (L135S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025868	NM_015021.3(ZNF292):c.834G>A (p.Ala278=)	ZNF292	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2515710	NM_015021.3(ZNF292):c.866T>C (p.Met289Thr)	ZNF292 (M149T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1334385	NM_015021.3(ZNF292):c.870C>A (p.Tyr290Ter)	ZNF292 (Y150* +1 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder, autosomal dominant 64	GLikely pathogenic
Select item 1676030	NM_015021.3(ZNF292):c.871T>G (p.Cys291Gly)	ZNF292 (C151G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3034942	NM_015021.3(ZNF292):c.879-5_879-4dup	ZNF292	Duplication (intron variant)	ZNF292-related disorder	GLikely benign
Select item 1228171	NM_015021.3(ZNF292):c.879-4del	ZNF292	Deletion (intron variant)	not provided	GBenign
Select item 2400578	NM_015021.3(ZNF292):c.952C>T (p.Arg318Cys)	ZNF292 (R178C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3025248	NM_015021.3(ZNF292):c.957A>G (p.Gln319=)	ZNF292	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2372409	NM_015021.3(ZNF292):c.964T>G (p.Leu322Val)	ZNF292 (L322V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2579139	NM_015021.3(ZNF292):c.1021-3C>T	ZNF292	Single nucleotide variant (intron variant)	Intellectual developmental disorder, autosomal dominant 64	GUncertain significance
Select item 2692492	NM_015021.3(ZNF292):c.1034G>C (p.Gly345Ala)	ZNF292 (G345A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2698370	NM_015021.3(ZNF292):c.1066G>A (p.Ala356Thr)	ZNF292 (A356T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2306673	NM_015021.3(ZNF292):c.1102A>G (p.Lys368Glu)	ZNF292 (K228E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3194959	NM_015021.3(ZNF292):c.1139C>T (p.Pro380Leu)	ZNF292 (P240L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2499308	NM_015021.3(ZNF292):c.1160G>A (p.Arg387His)	ZNF292 (R247H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 982154	NM_015021.3(ZNF292):c.1160del (p.Arg387fs)	ZNF292 (R247fs +1 more)	Deletion (frameshift variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1299040	NM_015021.3(ZNF292):c.1178A>T (p.Glu393Val)	ZNF292 (E253V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1342339	NM_015021.3(ZNF292):c.1190A>G (p.Glu397Gly)	ZNF292 (E257G +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 64 +1 more	GUncertain significance
Select item 3024961	NM_015021.3(ZNF292):c.1206G>A (p.Ala402=)	ZNF292	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 786093	NM_015021.3(ZNF292):c.1227G>A (p.Leu409=)	ZNF292	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 977380	NM_015021.3(ZNF292):c.1259A>G (p.Glu420Gly)	ZNF292 (E280G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1805591	NM_015021.3(ZNF292):c.1262A>G (p.Asn421Ser)	ZNF292 (N281S +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 64	GUncertain significance
Select item 1318541	NM_015021.3(ZNF292):c.1270A>G (p.Ile424Val)	ZNF292 (I284V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1683668	NM_015021.3(ZNF292):c.1273C>T (p.Pro425Ser)	ZNF292 (P285S +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 64	GUncertain significance
Select item 3025177	NM_015021.3(ZNF292):c.1287C>T (p.Arg429=)	ZNF292	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 982155	NM_015021.3(ZNF292):c.1360C>T (p.Arg454Ter)	ZNF292 (R314* +1 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder, autosomal dominant 64	GPathogenic
Select item 1703144	NM_015021.3(ZNF292):c.1388A>C (p.Glu463Ala)	ZNF292 (E323A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 585155	NM_015021.3(ZNF292):c.1408A>G (p.Ile470Val)	ZNF292 (I470V +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 64 +1 more	GConflicting classifications of pathogenicity
Select item 2627676	NM_015021.3(ZNF292):c.1414G>T (p.Glu472Ter)	ZNF292 (E332* +1 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder, autosomal dominant 64	GPathogenic
Select item 1691550	NM_015021.3(ZNF292):c.1423G>C (p.Asp475His)	ZNF292 (D335H +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 64	GUncertain significance
Select item 2577111	NM_015021.3(ZNF292):c.1424A>G (p.Asp475Gly)	ZNF292 (D335G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254391	NM_015021.3(ZNF292):c.1484A>G (p.Asn495Ser)	ZNF292 (N495S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 790581	NM_015021.3(ZNF292):c.1499G>T (p.Gly500Val)	ZNF292 (G500V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3194960	NM_015021.3(ZNF292):c.1511A>G (p.Asn504Ser)	ZNF292 (N364S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 982156	NM_015021.3(ZNF292):c.1567C>T (p.Gln523Ter)	ZNF292 (Q383* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1805244	NM_015021.3(ZNF292):c.1618T>C (p.Tyr540His)	ZNF292 (Y400H +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 64	GUncertain significance
Select item 2656737	NM_015021.3(ZNF292):c.1626G>A (p.Gln542=)	ZNF292	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2635795	NM_015021.3(ZNF292):c.1647A>G (p.Lys549=)	ZNF292	Single nucleotide variant (synonymous variant)	ZNF292-related disorder	GUncertain significance
Select item 2020058	NM_015021.3(ZNF292):c.1672C>T (p.Arg558Ter)	ZNF292 (R418* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2504982	NM_015021.3(ZNF292):c.1673G>A (p.Arg558Gln)	ZNF292 (R418Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 987142	NM_015021.3(ZNF292):c.1711del (p.Cys571fs)	ZNF292 (C431fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1317160	NM_015021.3(ZNF292):c.1715C>T (p.Pro572Leu)	ZNF292 (P432L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2313716	NM_015021.3(ZNF292):c.1732T>C (p.Phe578Leu)	ZNF292 (F578L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1315813	NM_015021.3(ZNF292):c.1760A>C (p.His587Pro)	ZNF292 (H447P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 981389	NM_015021.3(ZNF292):c.1787_1790del (p.Ser596fs)	ZNF292 (S456fs +1 more)	Deletion (frameshift variant)	Intellectual disability	GLikely pathogenic
Select item 2403342	NM_015021.3(ZNF292):c.1832G>C (p.Arg611Thr)	ZNF292 (R611T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 982201	NM_015021.3(ZNF292):c.1858G>T (p.Glu620Ter)	ZNF292 (E480* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GUncertain significance
Select item 982202	NM_015021.3(ZNF292):c.1897C>T (p.Arg633Ter)	ZNF292 (R493* +1 more)	Single nucleotide variant (nonsense)	ZNF292-related disorder +1 more	GLikely pathogenic
Select item 982203	NM_015021.3(ZNF292):c.1910del (p.Lys637fs)	ZNF292 (K497fs +1 more)	Deletion (frameshift variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2503159	NM_015021.3(ZNF292):c.1946A>G (p.Asn649Ser)	ZNF292 (N509S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2340702	NM_015021.3(ZNF292):c.2011C>G (p.Pro671Ala)	ZNF292 (P531A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3194961	NM_015021.3(ZNF292):c.2023C>T (p.Pro675Ser)	ZNF292 (P675S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2581099	NM_015021.3(ZNF292):c.2038_2041del (p.Glu680fs)	ZNF292 (E540fs +1 more)	Deletion (frameshift variant)	Intellectual developmental disorder, autosomal dominant 64	GLikely pathogenic

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