TUBGCP2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic
Select item 59728	GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3	ABRAXAS2, ACADSB +514 more	Copy number gain	See cases	GPathogenic
Select item 153718	GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3	LOC130004884, LOC130004885 +438 more	Copy number gain	See cases	GPathogenic
Select item 57403	GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1	LOC130004881, LOC130004882 +418 more	Copy number loss	See cases	GPathogenic
Select item 150499	GRCh38/hg38 10q26.12-26.3(chr10:120970558-133622588)x1	LOC130005014, LOC130005015 +409 more	Copy number loss	See cases	GPathogenic
Select item 154374	GRCh38/hg38 10q26.13-26.3(chr10:121588992-133620674)x1	FUOM, GLRX3 +399 more	Copy number loss	See cases	GPathogenic
Select item 154670	GRCh38/hg38 10q26.13-26.3(chr10:121918547-133620674)x1	LOC130004911, LOC130004912 +395 more	Copy number loss	See cases	GPathogenic
Select item 57376	GRCh38/hg38 10q26.13-26.3(chr10:122265252-133620674)x1	ABRAXAS2, ACADSB +383 more	Copy number loss	See cases	GPathogenic
Select item 149417	GRCh38/hg38 10q26.13-26.3(chr10:122881207-133620609)x1	LOC130004994, LOC130004995 +361 more	Copy number loss	See cases	GPathogenic
Select item 57447	GRCh38/hg38 10q26.13-26.3(chr10:123307835-133620674)x1	ABRAXAS2, ADAM12 +331 more	Copy number loss	See cases	GPathogenic
Select item 155477	GRCh38/hg38 10q26.13-26.3(chr10:123576393-133613639)x1	ABRAXAS2, ADAM12 +318 more	Copy number loss	See cases	GPathogenic
Select item 58822	GRCh38/hg38 10q26.13-26.3(chr10:123580320-133558988)x1	ABRAXAS2, ADAM12 +318 more	Copy number loss	See cases	GPathogenic
Select item 155556	GRCh38/hg38 10q26.13-26.3(chr10:123986772-133613639)x1	ABRAXAS2, ADAM12 +311 more	Copy number loss	See cases	GPathogenic
Select item 146789	GRCh38/hg38 10q26.13-26.3(chr10:124473108-133620609)x1	ABRAXAS2, ADAM12 +297 more	Copy number loss	See cases	GPathogenic
Select item 148580	GRCh38/hg38 10q26.13-26.3(chr10:124834858-133622588)x1	LOC130005026, LOC130005027 +257 more	Copy number loss	See cases	GPathogenic
Select item 150776	GRCh38/hg38 10q26.13-26.3(chr10:125021995-133620609)x1	LOC126861090, LOC126861091 +250 more	Copy number loss	See cases	GPathogenic
Select item 152830	GRCh38/hg38 10q26.13-26.3(chr10:125452905-133785874)x3	ADAM12, ADAM8 +241 more	Copy number gain	See cases	GPathogenic
Select item 144259	GRCh38/hg38 10q26.13-26.3(chr10:125657472-133620674)x1	ADAM12, ADAM8 +234 more	Copy number loss	See cases	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 58823	GRCh38/hg38 10q26.2-26.3(chr10:126256585-133613938)x1	ADAM12, ADAM8 +207 more	Copy number loss	See cases	GPathogenic
Select item 144558	GRCh38/hg38 10q26.2-26.3(chr10:126730896-133620609)x1	LOC130005011, LOC130005012 +199 more	Copy number loss	See cases	GPathogenic
Select item 155548	GRCh38/hg38 10q26.2-26.3(chr10:126794646-133613639)x1	ADAM8, ADGRA1 +199 more	Copy number loss	See cases	GPathogenic
Select item 155174	GRCh38/hg38 10q26.2-26.3(chr10:127435985-133622588)x1	ADAM8, ADGRA1 +192 more	Copy number loss	See cases	GPathogenic
Select item 152433	GRCh38/hg38 10q26.2-26.3(chr10:127664168-133622588)x3	ADAM8, ADGRA1 +190 more	Copy number gain	See cases	GLikely pathogenic
Select item 149102	GRCh38/hg38 10q26.2-26.3(chr10:127849717-133622588)x1	ADAM8, ADGRA1 +189 more	Copy number loss	See cases	GPathogenic
Select item 149101	GRCh38/hg38 10q26.2-26.3(chr10:128549913-133622588)x1	LOC130004973, LOC130004974 +170 more	Copy number loss	See cases	GPathogenic
Select item 147736	GRCh38/hg38 10q26.3(chr10:128872419-133564028)x3	ADAM8, ADGRA1 +168 more	Copy number gain	See cases	GPathogenic
Select item 148897	GRCh38/hg38 10q26.3(chr10:129427520-133622588)x1	ADAM8, ADGRA1 +165 more	Copy number loss	See cases	GPathogenic
Select item 146234	GRCh38/hg38 10q26.3(chr10:129549258-133620674)x1	LOC130004974, LOC130004975 +163 more	Copy number loss	See cases	GPathogenic
Select item 58825	GRCh38/hg38 10q26.3(chr10:129673966-133613938)x1	ADAM8, ADGRA1 +158 more	Copy number loss	See cases	GPathogenic
Select item 155487	GRCh38/hg38 10q26.3(chr10:130625650-133613639)x1	ADAM8, ADGRA1 +135 more	Copy number loss	See cases	GUncertain significance
Select item 155695	GRCh38/hg38 10q26.3(chr10:131424682-133613639)x1	ADAM8, ADGRA1 +127 more	Copy number loss	See cases	GLikely pathogenic
Select item 57314	GRCh38/hg38 10q26.3(chr10:131457361-133620674)x1	ADAM8, ADGRA1 +127 more	Copy number loss	See cases	GPathogenic
Select item 58853	GRCh38/hg38 10q26.3(chr10:131914873-133613938)x1	ADAM8, ADGRA1 +115 more	Copy number loss	See cases	GPathogenic
Select item 146073	GRCh38/hg38 10q26.3(chr10:132178475-133620674)x1	ADAM8, ADGRA1 +105 more	Copy number loss	See cases	GPathogenic
Select item 57950	GRCh38/hg38 10q26.3(chr10:132445383-133398465)x3	ADAM8, ADGRA1 +69 more	Copy number gain	See cases	GUncertain significance
Select item 58854	GRCh38/hg38 10q26.3(chr10:132475849-133620674)x1	ADAM8, ADGRA1 +79 more	Copy number loss	See cases	GPathogenic
Select item 149205	GRCh38/hg38 10q26.3(chr10:132962729-133622588)x1	ADAM8, ADGRA1 +61 more	Copy number loss	See cases	GUncertain significance
Select item 151171	GRCh38/hg38 10q26.3(chr10:133001075-133622588)x3	KNDC1, LOC110599579 +59 more	Copy number gain	See cases	GUncertain significance
Select item 57459	GRCh38/hg38 10q26.3(chr10:133001134-133620674)x1	ADAM8, ADGRA1 +59 more	Copy number loss	See cases	GUncertain significance
Select item 152049	GRCh38/hg38 10q26.3(chr10:133059029-133622588)x3	ADAM8, ADGRA1 +58 more	Copy number gain	See cases	GUncertain significance
Select item 144988	GRCh38/hg38 10q26.3(chr10:133134279-133400512)x1	ADAM8, CALY +40 more	Copy number loss	See cases	GBenign
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 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 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 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 2274585	NM_006659.4(TUBGCP2):c.2650G>C (p.Val884Leu)	TUBGCP2 (V884L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213969	NM_006659.4(TUBGCP2):c.2647C>A (p.Gln883Lys)	TUBGCP2 (Q883K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224430	NM_006659.4(TUBGCP2):c.2603G>A (p.Arg868His)	TUBGCP2 (R868H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222185	NM_006659.4(TUBGCP2):c.2585A>G (p.Asn862Ser)	TUBGCP2 (N732S +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 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 2396455	NM_006659.4(TUBGCP2):c.2478C>A (p.Asp826Glu)	TUBGCP2 (D696E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407846	NM_006659.4(TUBGCP2):c.2455G>A (p.Glu819Lys)	TUBGCP2 (E847K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210005	NM_006659.4(TUBGCP2):c.2454C>G (p.Phe818Leu)	TUBGCP2 (F688L +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 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 2457346	NM_006659.4(TUBGCP2):c.2377G>A (p.Glu793Lys)	TUBGCP2 (E663K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 3025110	NM_006659.4(TUBGCP2):c.2290-5C>T	TUBGCP2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1694574	NM_006659.4(TUBGCP2):c.2290-5C>A	TUBGCP2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
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 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 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 2409642	NM_006659.4(TUBGCP2):c.2180C>T (p.Thr727Ile)	TUBGCP2 (T727I +2 more)	Single nucleotide variant (missense variant)	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 1694575	NM_006659.4(TUBGCP2):c.2146-7C>T	TUBGCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2289654	NM_006659.4(TUBGCP2):c.2116T>A (p.Trp706Arg)	TUBGCP2 (W576R +2 more)	Single nucleotide variant (missense variant +1 more)	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 2312566	NM_006659.4(TUBGCP2):c.2098G>A (p.Glu700Lys)	TUBGCP2 (E570K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1180121	NM_006659.4(TUBGCP2):c.2097T>C (p.Phe699=)	TUBGCP2	Single nucleotide variant (synonymous variant +1 more)	Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures +1 more	GBenign
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 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 691862	NM_006659.4(TUBGCP2):c.2025-2A>G	TUBGCP2	Single nucleotide variant (splice acceptor variant)	Abnormality of neuronal migration +1 more	GPathogenic
Select item 2641010	NM_006659.4(TUBGCP2):c.2025-60_2025-4del	TUBGCP2	Deletion (intron variant)	not provided	GUncertain significance
Select item 2464973	NM_006659.4(TUBGCP2):c.2017G>A (p.Ala673Thr)	TUBGCP2 (A543T +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 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 1181934	NM_006659.4(TUBGCP2):c.1941C>T (p.Tyr647=)	TUBGCP2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 3053030	NM_006659.4(TUBGCP2):c.1896-9C>T	TUBGCP2	Single nucleotide variant (intron variant)	TUBGCP2-related disorder	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 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 2672421	NM_006659.4(TUBGCP2):c.1884C>T (p.Leu628=)	TUBGCP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 691860	NM_006659.4(TUBGCP2):c.1843G>C (p.Ala615Pro)	TUBGCP2 (A615P +2 more)	Single nucleotide variant (missense variant +1 more)	Abnormality of neuronal migration +1 more	GConflicting classifications of pathogenicity
Select item 2261789	NM_006659.4(TUBGCP2):c.1834G>A (p.Gly612Ser)	TUBGCP2 (G640S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1336012	NM_006659.4(TUBGCP2):c.1825G>A (p.Ala609Thr)	TUBGCP2 (A479T +2 more)	Single nucleotide variant (missense variant +1 more)	TUBGCP2-related disorder +2 more	GLikely benign
Select item 1801939	NM_006659.4(TUBGCP2):c.1817C>T (p.Thr606Met)	TUBGCP2 (T476M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2438440	NM_006659.4(TUBGCP2):c.1719C>T (p.Leu573=)	TUBGCP2	Single nucleotide variant (synonymous variant +1 more)	Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures	GUncertain significance
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 1722871	NM_006659.4(TUBGCP2):c.1589A>G (p.His530Arg)	TUBGCP2 (H400R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2637548	NM_006659.4(TUBGCP2):c.1542-2A>G	TUBGCP2	Single nucleotide variant (splice acceptor variant)	not specified	GUncertain significance
Select item 2319431	NM_006659.4(TUBGCP2):c.1518G>C (p.Glu506Asp)	TUBGCP2 (E534D +2 more)	Single nucleotide variant (missense variant +1 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 3067601	NM_006659.4(TUBGCP2):c.1368T>C (p.Tyr456=)	TUBGCP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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