ClinVar for Gene (Select 10844) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3196290	NM_145806.4(ZNF511):c.659A>G (p.Glu220Gly)	TUBGCP2, ZNF511 +1 more (E220G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196289	NM_145806.4(ZNF511):c.655G>C (p.Gly219Arg)	TUBGCP2, ZNF511 +1 more (G219R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196288	NM_145806.4(ZNF511):c.448G>A (p.Gly150Ser)	TUBGCP2, ZNF511 +1 more (G150S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196286	NM_145806.4(ZNF511):c.198G>T (p.Met66Ile)	LOC111946221, TUBGCP2 +2 more (M66I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184796	NM_006659.4(TUBGCP2):c.960G>A (p.Ser320=)	LOC126861106, TUBGCP2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3184795	NM_006659.4(TUBGCP2):c.848T>G (p.Phe283Cys)	LOC126861106, TUBGCP2 (F311C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184794	NM_006659.4(TUBGCP2):c.679G>A (p.Gly227Ser)	LOC126861106, TUBGCP2 (G255S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184793	NM_006659.4(TUBGCP2):c.53G>A (p.Arg18His)	TUBGCP2 (R18H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3184792	NM_006659.4(TUBGCP2):c.2701G>A (p.Ala901Thr)	TUBGCP2 (A929T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184791	NM_006659.4(TUBGCP2):c.2563G>A (p.Val855Ile)	TUBGCP2 (V855I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184790	NM_006659.4(TUBGCP2):c.2401G>A (p.Ala801Thr)	TUBGCP2 (A671T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3184789	NM_006659.4(TUBGCP2):c.2374G>T (p.Ala792Ser)	TUBGCP2 (A662S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184788	NM_006659.4(TUBGCP2):c.2273T>G (p.Phe758Cys)	TUBGCP2 (F786C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184787	NM_006659.4(TUBGCP2):c.2161G>A (p.Asp721Asn)	TUBGCP2 (D591N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184786	NM_006659.4(TUBGCP2):c.2111C>A (p.Pro704Gln)	TUBGCP2 (P704Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184785	NM_006659.4(TUBGCP2):c.200A>G (p.Tyr67Cys)	TUBGCP2 (Y67C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3184784	NM_006659.4(TUBGCP2):c.1892A>G (p.Asn631Ser)	TUBGCP2 (N501S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184783	NM_006659.4(TUBGCP2):c.1147G>A (p.Ala383Thr)	TUBGCP2 (A253T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148924	GRCh37/hg19 10q26.12-26.3(chr10:122331280-135426386)x1	ABRAXAS2, ACADSB +80 more	Copy number loss	not provided	GPathogenic
Select item 3067601	NM_006659.4(TUBGCP2):c.1368T>C (p.Tyr456=)	TUBGCP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3067434	NM_006659.4(TUBGCP2):c.1360+7_1360+8insGCGGCACAGCGGGCAGGGACTTGGCGTCC	TUBGCP2	Insertion (intron variant)	not provided	GLikely benign
Select item 3065197	NM_006659.4(TUBGCP2):c.2672C>T (p.Pro891Leu)	TUBGCP2 (P761L +2 more)	Single nucleotide variant (missense variant +1 more)	Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures	GLikely benign
Select item 3063175	GRCh37/hg19 10q26.13-26.3(chr10:125987494-135427143)x1	ABRAXAS2, ADAM12 +55 more	Copy number loss	not specified	GPathogenic
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063154	GRCh37/hg19 10q26.3(chr10:131398569-135427143)x1	ADAM8, ADGRA1 +31 more	Copy number loss	not specified	GPathogenic
Select item 3063149	GRCh37/hg19 10q26.13-26.3(chr10:126127397-135427143)x1	ABRAXAS2, ADAM12 +54 more	Copy number loss	not specified	GPathogenic
Select item 3061841	GRCh38/hg38 10q26.2-26.3(chr10:125976998-133427130)x1	CLRN3, DOCK1 +201 more	Copy number loss	Hypotonia, ataxia, and delayed development syndrome +1 more	GPathogenic
Select item 3053030	NM_006659.4(TUBGCP2):c.1896-9C>T	TUBGCP2	Single nucleotide variant (intron variant)	TUBGCP2-related disorder	GLikely benign
Select item 3049997	NM_006659.4(TUBGCP2):c.2208C>T (p.Asp736=)	TUBGCP2	Single nucleotide variant (synonymous variant +1 more)	TUBGCP2-related disorder	GLikely benign
Select item 3042972	NM_006659.4(TUBGCP2):c.2685C>T (p.Pro895=)	TUBGCP2	Single nucleotide variant (synonymous variant +1 more)	TUBGCP2-related disorder	GLikely benign
Select item 3042706	NM_006659.4(TUBGCP2):c.648C>T (p.Ala216=)	LOC126861106, TUBGCP2	Single nucleotide variant (synonymous variant +1 more)	TUBGCP2-related disorder	GLikely benign
Select item 3040275	NM_006659.4(TUBGCP2):c.2082A>G (p.Gln694=)	TUBGCP2	Single nucleotide variant (synonymous variant +1 more)	TUBGCP2-related disorder	GLikely benign
Select item 3036988	NM_006659.4(TUBGCP2):c.1024+10C>T	LOC126861106, TUBGCP2	Single nucleotide variant (intron variant)	TUBGCP2-related disorder	GLikely benign
Select item 3032719	NM_006659.4(TUBGCP2):c.2700C>T (p.Thr900=)	TUBGCP2	Single nucleotide variant (synonymous variant +1 more)	TUBGCP2-related disorder	GLikely benign
Select item 3026010	NM_006659.4(TUBGCP2):c.1044C>T (p.Gly348=)	TUBGCP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3025110	NM_006659.4(TUBGCP2):c.2290-5C>T	TUBGCP2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 3024913	NM_006659.4(TUBGCP2):c.855C>T (p.Tyr285=)	LOC126861106, TUBGCP2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 3024574	GRCh37/hg19 10q26.3(chr10:131299771-135441274)x1	CYP2E1, MTG1 +32 more	Copy number loss	not provided	GPathogenic
Select item 2975903	NM_006659.4(TUBGCP2):c.1360+16_1360+17insGCGGCGCAGCGGGCAGGGACTTGGCGTCC	TUBGCP2	Insertion (intron variant)	not provided	GBenign
Select item 2685393	GRCh37/hg19 10q26.3(chr10:133435524-135427143)x1	ADAM8, ADGRA1 +26 more	Copy number loss	not provided	GUncertain significance
Select item 2685391	GRCh37/hg19 10q26.2-26.3(chr10:128925940-135427143)x1	ADAM8, ADGRA1 +38 more	Copy number loss	not provided	GPathogenic
Select item 2672426	GRCh37/hg19 10q26.3(chr10:135053180-135381952)x3	ADAM8, CALY +11 more	Copy number gain	not provided	GUncertain significance
Select item 2672422	NM_006659.4(TUBGCP2):c.687C>T (p.Asp229=)	LOC126861106, TUBGCP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2672421	NM_006659.4(TUBGCP2):c.1884C>T (p.Leu628=)	TUBGCP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2671973	GRCh37/hg19 10q26.2-26.3(chr10:128289206-135427143)x1	ADAM8, ADGRA1 +38 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2641028	NM_006659.4(TUBGCP2):c.489C>T (p.Asp163=)	TUBGCP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2641027	NM_006659.4(TUBGCP2):c.564C>T (p.Ile188=)	TUBGCP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2641026	NM_006659.4(TUBGCP2):c.616+4C>T	TUBGCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2641025	NM_006659.4(TUBGCP2):c.696C>T (p.Tyr232=)	LOC126861106, TUBGCP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2641024	NM_006659.4(TUBGCP2):c.720G>A (p.Gly240=)	TUBGCP2, LOC126861106	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2641023	NM_006659.4(TUBGCP2):c.813C>T (p.Ser271=)	LOC126861106, TUBGCP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2641022	NM_006659.4(TUBGCP2):c.834A>G (p.Glu278=)	LOC126861106, TUBGCP2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2641021	NM_006659.4(TUBGCP2):c.882C>T (p.Ala294=)	LOC126861106, TUBGCP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2641020	NM_006659.4(TUBGCP2):c.1178A>G (p.Lys393Arg)	TUBGCP2 (K263R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2641019	NM_006659.4(TUBGCP2):c.1209A>G (p.Pro403=)	TUBGCP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2641018	NM_006659.4(TUBGCP2):c.1214+7C>T	TUBGCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2641017	NM_006659.4(TUBGCP2):c.1215-1G>C	TUBGCP2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2641016	NM_006659.4(TUBGCP2):c.1220T>C (p.Phe407Ser)	TUBGCP2 (F277S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2641015	NM_006659.4(TUBGCP2):c.1272C>T (p.Asn424=)	TUBGCP2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2641014	NM_006659.4(TUBGCP2):c.1335A>G (p.Lys445=)	TUBGCP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2641013	NM_006659.4(TUBGCP2):c.1641G>A (p.Thr547=)	TUBGCP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2641012	NM_006659.4(TUBGCP2):c.1802C>T (p.Ala601Val)	TUBGCP2 (A471V +2 more)	Single nucleotide variant (missense variant +1 more)	TUBGCP2-related disorder +1 more	GLikely benign
Select item 2641011	NM_006659.4(TUBGCP2):c.1896-36G>A	TUBGCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2641010	NM_006659.4(TUBGCP2):c.2025-60_2025-4del	TUBGCP2	Deletion (intron variant)	not provided	GUncertain significance
Select item 2641009	NM_006659.4(TUBGCP2):c.2280C>T (p.Asn760=)	TUBGCP2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2641008	NM_006659.4(TUBGCP2):c.2386G>A (p.Ala796Thr)	TUBGCP2 (A666T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2641007	NM_006659.4(TUBGCP2):c.2515C>T (p.Arg839Trp)	TUBGCP2 (R709W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2637548	NM_006659.4(TUBGCP2):c.1542-2A>G	TUBGCP2	Single nucleotide variant (splice acceptor variant)	not specified	GUncertain significance
Select item 2634834	NM_006659.4(TUBGCP2):c.959C>T (p.Ser320Leu)	LOC126861106, TUBGCP2 (S190L +2 more)	Single nucleotide variant (missense variant +1 more)	TUBGCP2-related disorder	GUncertain significance
Select item 2634324	NM_006659.4(TUBGCP2):c.2319C>T (p.Gly773=)	TUBGCP2	Single nucleotide variant (synonymous variant +1 more)	TUBGCP2-related disorder	GUncertain significance
Select item 2633192	NM_006659.4(TUBGCP2):c.131T>C (p.Val44Ala)	TUBGCP2 (V44A)	Single nucleotide variant (missense variant +2 more)	TUBGCP2-related disorder	GUncertain significance
Select item 2627664	NM_006659.4(TUBGCP2):c.931G>A (p.Glu311Lys)	TUBGCP2, LOC126861106 (E181K +1 more)	Single nucleotide variant (missense variant +1 more)	Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures	GPathogenic
Select item 2614705	NM_006659.4(TUBGCP2):c.227G>A (p.Arg76Lys)	TUBGCP2 (R76K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2609273	NM_006659.4(TUBGCP2):c.1382G>C (p.Arg461Thr)	TUBGCP2 (R489T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605041	NM_145806.4(ZNF511):c.592C>T (p.Arg198Trp)	TUBGCP2, ZNF511 +1 more (R198W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603625	NM_006659.4(TUBGCP2):c.730C>T (p.Arg244Trp)	LOC126861106, TUBGCP2 (R114W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588637	NM_006659.4(TUBGCP2):c.808T>A (p.Tyr270Asn)	LOC126861106, TUBGCP2 (Y298N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2580338	GRCh37/hg19 10q26.13-26.3(chr10:124895517-135440296)x1	ABRAXAS2, ADAM12 +62 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574693	GRCh37/hg19 10q26.13-26.3(chr10:123477898-135427143)	ABRAXAS2, ACADSB +77 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2570779	NM_006659.4(TUBGCP2):c.1024+4C>T	LOC126861106, TUBGCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2570685	NM_006659.4(TUBGCP2):c.1552C>T (p.Arg518Cys)	TUBGCP2 (R388C +2 more)	Single nucleotide variant (missense variant +1 more)	Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures	GUncertain significance
Select item 2570684	NM_006659.4(TUBGCP2):c.150+5G>A	TUBGCP2	Single nucleotide variant (intron variant)	Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures	GUncertain significance
Select item 2564497	NM_145806.4(ZNF511):c.185A>C (p.Gln62Pro)	LOC111946221, TUBGCP2 +2 more (Q62P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543614	NM_006659.4(TUBGCP2):c.2134A>G (p.Asn712Asp)	TUBGCP2 (N712D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540282	NM_145806.4(ZNF511):c.601G>A (p.Gly201Arg)	TUBGCP2, ZNF511 +1 more (G201R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535055	NM_006659.4(TUBGCP2):c.1115C>T (p.Ala372Val)	TUBGCP2 (A372V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513839	NM_006659.4(TUBGCP2):c.592A>G (p.Ser198Gly)	TUBGCP2 (S68G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509757	NM_006659.4(TUBGCP2):c.565G>A (p.Gly189Arg)	TUBGCP2 (G59R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2501114	NM_006659.4(TUBGCP2):c.824+1G>C	LOC126861106, TUBGCP2	Single nucleotide variant (splice donor variant)	not specified	GUncertain significance
Select item 2498475	GRCh37/hg19 10q26.12-26.3(chr10:122610933-135439810)x1	ABRAXAS2, ACADSB +80 more	Copy number loss	not provided	GPathogenic
Select item 2498474	NM_006659.4(TUBGCP2):c.1214+1176G>A	TUBGCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2489451	NM_006659.4(TUBGCP2):c.2000A>G (p.Gln667Arg)	TUBGCP2 (Q695R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482935	NM_006659.4(TUBGCP2):c.28G>A (p.Val10Ile)	TUBGCP2 (V10I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2480562	NM_006659.4(TUBGCP2):c.2026T>C (p.Phe676Leu)	TUBGCP2 (F546L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475883	NM_006659.4(TUBGCP2):c.2002C>T (p.His668Tyr)	TUBGCP2 (H538Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2471314	NM_145806.4(ZNF511):c.410T>C (p.Leu137Pro)	TUBGCP2, ZNF511 +1 more (L137P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468448	NM_145806.4(ZNF511):c.491A>G (p.His164Arg)	TUBGCP2, ZNF511 +1 more (H164R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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