CENPC[gene] - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	ENAM, LOC116158492 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 59451	GRCh38/hg38 4q13.1-13.3(chr4:65454562-72313693)x1	LOC129992665, LOC129992666 +103 more	Copy number loss	See cases	GPathogenic
Select item 57351	GRCh38/hg38 4q13.2(chr4:65873016-68743024)x3	CENPC, GNRHR +32 more	Copy number gain	See cases	GUncertain significance
Select item 57091	GRCh38/hg38 4q13.2-13.3(chr4:66842408-70831557)x1	AMBN, AMTN +76 more	Copy number loss	See cases	GPathogenic
Select item 2338861	NM_001812.4(CENPC):c.2789G>A (p.Arg930Gln)	CENPC (R922Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310166	NM_001812.4(CENPC):c.2509C>T (p.Leu837Phe)	CENPC (L837F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403684	NM_001812.4(CENPC):c.2506A>G (p.Ile836Val)	CENPC (I828V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315098	NM_001812.4(CENPC):c.2405A>G (p.Asp802Gly)	CENPC (D802G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612480	NM_001812.4(CENPC):c.2390A>G (p.Lys797Arg)	CENPC (K797R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412280	NM_001812.4(CENPC):c.2299G>A (p.Val767Met)	CENPC (V767M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530759	NM_001812.4(CENPC):c.2166C>G (p.Asn722Lys)	CENPC (N722K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510497	NM_001812.4(CENPC):c.2020G>A (p.Gly674Arg)	CENPC (G674R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362421	NM_001812.4(CENPC):c.2014G>A (p.Asp672Asn)	CENPC (D672N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142268	NM_001812.4(CENPC):c.1992T>A (p.Asn664Lys)	CENPC (N664K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3142267	NM_001812.4(CENPC):c.1925A>G (p.Asn642Ser)	CENPC (N642S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376304	NM_001812.4(CENPC):c.1898G>A (p.Cys633Tyr)	CENPC (C633Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261403	NM_001812.4(CENPC):c.1860T>A (p.Ser620Arg)	CENPC (S620R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372995	NM_001812.4(CENPC):c.1818T>A (p.His606Gln)	CENPC (H606Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319515	NM_001812.4(CENPC):c.1798T>G (p.Ser600Ala)	CENPC (S600A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360835	NM_001812.4(CENPC):c.1718A>G (p.Lys573Arg)	CENPC (K573R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359063	NM_001812.4(CENPC):c.1681A>G (p.Thr561Ala)	CENPC (T561A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2321309	NM_001812.4(CENPC):c.1664A>G (p.Asn555Ser)	CENPC (N555S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550090	NM_001812.4(CENPC):c.1663A>T (p.Asn555Tyr)	CENPC (N555Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231551	NM_001812.4(CENPC):c.1622A>G (p.Tyr541Cys)	CENPC (Y541C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361080	NM_001812.4(CENPC):c.1340C>T (p.Ser447Leu)	CENPC (S447L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142266	NM_001812.4(CENPC):c.1306G>T (p.Val436Leu)	CENPC (V436L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 758227	NM_001812.4(CENPC):c.1305T>C (p.Asp435=)	CENPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3142265	NM_001812.4(CENPC):c.1161G>T (p.Leu387Phe)	CENPC (L387F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514291	NM_001812.4(CENPC):c.1097A>G (p.Lys366Arg)	CENPC (K366R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543736	NM_001812.4(CENPC):c.1059A>G (p.Ile353Met)	CENPC (I353M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142264	NM_001812.4(CENPC):c.1057A>C (p.Ile353Leu)	CENPC (I353L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551386	NM_001812.4(CENPC):c.1033A>C (p.Lys345Gln)	CENPC (K345Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353215	NM_001812.4(CENPC):c.1010G>A (p.Ser337Asn)	CENPC (S337N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142273	NM_001812.4(CENPC):c.979C>G (p.Leu327Val)	CENPC (L327V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142272	NM_001812.4(CENPC):c.938C>T (p.Ala313Val)	CENPC (A313V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352544	NM_001812.4(CENPC):c.869C>T (p.Ser290Leu)	CENPC (S290L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142271	NM_001812.4(CENPC):c.827C>A (p.Ser276Tyr)	CENPC (S276Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375843	NM_001812.4(CENPC):c.815G>A (p.Arg272Gln)	CENPC (R272Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519629	NM_001812.4(CENPC):c.760A>G (p.Ile254Val)	CENPC (I254V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142270	NM_001812.4(CENPC):c.743G>A (p.Arg248Gln)	CENPC (R248Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2311888	NM_001812.4(CENPC):c.676G>C (p.Asp226His)	CENPC (D226H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456418	NM_001812.4(CENPC):c.665A>G (p.Asn222Ser)	CENPC (N222S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548404	NM_001812.4(CENPC):c.615A>T (p.Lys205Asn)	CENPC (K205N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248394	NM_001812.4(CENPC):c.505G>A (p.Val169Ile)	CENPC (V169I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142269	NM_001812.4(CENPC):c.476C>A (p.Pro159His)	CENPC (P159H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372046	NM_001812.4(CENPC):c.389C>T (p.Thr130Ile)	CENPC (T130I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221864	NM_001812.4(CENPC):c.380C>T (p.Ser127Phe)	CENPC (S127F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622633	NM_001812.4(CENPC):c.269C>T (p.Ser90Leu)	CENPC (S90L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380991	NM_001812.4(CENPC):c.209G>A (p.Cys70Tyr)	CENPC (C70Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275307	NM_001812.4(CENPC):c.202G>A (p.Asp68Asn)	CENPC (D68N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618749	NM_001812.4(CENPC):c.190C>A (p.Arg64Ser)	CENPC (R64S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062753	GRCh37/hg19 4q13.1-13.2(chr4:65646937-68662306)x3	CENPC, EPHA5 +3 more	Copy number gain	not specified	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	TMA16, CXCL1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685970	GRCh37/hg19 4q13.1-13.3(chr4:63684557-71480358)x3	AMBN, AMTN +38 more	Copy number gain	not provided	GPathogenic
Select item 2685109	GRCh37/hg19 4q12-13.3(chr4:57584845-72430996)x1	ADGRL3, AMBN +52 more	Copy number loss	not provided	GPathogenic
Select item 1808115	GRCh37/hg19 4q13.1-13.2(chr4:66215872-68647080)x1	CENPC, EPHA5 +3 more	Copy number loss	not provided	GUncertain significance
Select item 1807937	GRCh37/hg19 4q13.2(chr4:67729321-68949586)x3	CENPC, GNRHR +5 more	Copy number gain	not provided	GUncertain significance
Select item 1527092	GRCh37/hg19 4q13.2(chr4:68272006-68923410)	CENPC, GNRHR +5 more	Copy number gain	not specified	GUncertain significance
Select item 1527091	GRCh37/hg19 4q13.2(chr4:67997060-69198391)	CENPC, GNRHR +7 more	Copy number gain	not specified	GUncertain significance
Select item 1527090	GRCh37/hg19 4q13.1-13.3(chr4:61867555-74711517)	ADAMTS3, ADGRL3 +58 more	Copy number loss	not specified	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 814562	GRCh37/hg19 4q13.2(chr4:67392949-69837294)x3	CENPC, GNRHR +12 more	Copy number gain	not provided	GUncertain significance
Select item 813844	GRCh37/hg19 4q13.2(chr4:66969699-69462438)x3	CENPC, GNRHR +10 more	Copy number gain	Delayed speech and language development +1 more	GUncertain significance
Select item 685236	GRCh37/hg19 4q13.2-21.22(chr4:68242784-82991431)x3	CCNG2, CCNI +109 more	Copy number gain	not provided	GPathogenic
Select item 635941	Single allele	TMPRSS11D, CENPC +6 more	Deletion	Neurodevelopmental disorder	GLikely pathogenic
Select item 562924	GRCh37/hg19 4q13.2(chr4:67844456-68399574)x3	CENPC	Copy number gain	not provided	GUncertain significance
Select item 562923	GRCh37/hg19 4q13.2(chr4:67399720-68385152)x3	CENPC	Copy number gain	not provided	GLikely benign
Select item 562922	GRCh37/hg19 4q13.1-13.2(chr4:65395609-69170853)x1	UBA6, TMPRSS11B +7 more	Copy number loss	not provided	GUncertain significance
Select item 562920	GRCh37/hg19 4q13.1-13.3(chr4:64705501-73469716)x3	ADAMTS3, AMBN +49 more	Copy number gain	not provided	GPathogenic
Select item 443262	GRCh37/hg19 4q13.1-21.1(chr4:66017575-76772947)x1	ADAMTS3, AFM +75 more	Copy number loss	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	SCRG1, SDAD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 395561	GRCh37/hg19 4q13.2(chr4:68267070-69203425)x3	CENPC, GNRHR +7 more	Copy number gain	See cases	GUncertain significance
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	CCKAR, CWH43 +744 more	Copy number gain	See cases	GPathogenic

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Items: 75