ClinVar for Gene (Select 55166) - ClinVar

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Links from Gene

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3265943	NM_018132.4(CENPQ):c.585G>C (p.Glu195Asp)	CENPQ (E195D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265942	NM_018132.4(CENPQ):c.283A>G (p.Ile95Val)	CENPQ (I95V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142422	NM_018132.4(CENPQ):c.725T>G (p.Leu242Trp)	CENPQ (L242W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142421	NM_018132.4(CENPQ):c.723C>G (p.Asp241Glu)	CENPQ (D241E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142420	NM_018132.4(CENPQ):c.65A>T (p.Lys22Ile)	CENPQ (K22I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142419	NM_018132.4(CENPQ):c.503C>G (p.Thr168Ser)	CENPQ (T168S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142418	NM_018132.4(CENPQ):c.34G>A (p.Ala12Thr)	CENPQ (A12T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142417	NM_018132.4(CENPQ):c.343A>G (p.Lys115Glu)	CENPQ (K115E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466336	NM_018132.4(CENPQ):c.134A>G (p.His45Arg)	CENPQ (H45R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422682	NC_000006.11:g.(?_49399441)_(49604525_?)dup	C6orf141, CENPQ +3 more	Duplication	not provided	GUncertain significance
Select item 2411636	NM_018132.4(CENPQ):c.192G>C (p.Lys64Asn)	CENPQ (K64N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321916	NM_018132.4(CENPQ):c.541A>G (p.Asn181Asp)	CENPQ (N181D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293693	NM_018132.4(CENPQ):c.602A>G (p.His201Arg)	CENPQ (H201R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285381	NM_018132.4(CENPQ):c.688G>A (p.Ala230Thr)	CENPQ (A230T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2252402	NM_018132.4(CENPQ):c.617G>A (p.Ser206Asn)	CENPQ (S206N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1676306	GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3	PAQR8, PGK2 +92 more	Copy number gain	not provided	GLikely pathogenic
Select item 1527236	GRCh37/hg19 6p21.1-12.3(chr6:43636308-50947320)	ADGRF5, ANKRD66 +50 more	Copy number loss	not specified	GPathogenic
Select item 1340034	GRCh37/hg19 6p12.3(chr6:49459881-50012992)x1	C6orf141, CENPQ +10 more	Copy number loss	not provided	GUncertain significance
Select item 983177	GRCh37/hg19 6p12.3-12.1(chr6:48626041-55575545)x1	TFAP2D, TINAG +43 more	Copy number loss	See cases	GLikely pathogenic
Select item 979548	GRCh37/hg19 6p12.3(chr6:48566675-50063411)x1	PGK2, DEFB113 +11 more	Copy number loss	not provided	GUncertain significance
Select item 814811	GRCh37/hg19 6p12.3(chr6:49459881-50024153)x1	DEFB113, C6orf141 +10 more	Copy number loss	not provided	GUncertain significance
Select item 688387	GRCh37/hg19 6p12.3(chr6:48617762-49836065)x3	C6orf141, CENPQ +7 more	Copy number gain	not provided	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 394678	GRCh37/hg19 6p12.3(chr6:49430382-49479720)x3	CENPQ, GLYATL3 +1 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 253810	GRCh37/hg19 6p12.3(chr6:48682849-49834213)x3	RHAG, CENPQ +7 more	Copy number gain	See cases	GUncertain significance
Select item 153225	GRCh38/hg38 6p12.3(chr6:47191779-51427306)x1	ADGRF2, ADGRF4 +64 more	Copy number loss	See cases	GLikely pathogenic
Select item 149301	GRCh38/hg38 6p21.1-12.1(chr6:45681671-54212044)x1	GSTA3, GSTA4 +228 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 29