"GeneDx"[submitter] AND "CCNQ"[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145168	GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	LOC125467786, LOC125467787 +1203 more	Copy number loss	See cases	GPathogenic
Select item 58668	GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3	MIR2114, MIR224 +718 more	Copy number gain	See cases	GPathogenic
Select item 58708	GRCh38/hg38 Xq28(chrX:153395425-155687381)x2	BCAP31, BGN +200 more	Copy number gain	See cases	GPathogenic
Select item 58709	GRCh38/hg38 Xq28(chrX:153504314-154144797)x2	ABCD1, ARHGAP4 +67 more	Copy number gain	See cases	GPathogenic
Select item 1221254	NM_152274.5(CCNQ):c.657+271C>T	CCNQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275895	NM_152274.5(CCNQ):c.657+144C>T	CCNQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 382099	NM_152274.5(CCNQ):c.616G>T (p.Glu206Ter)	CCNQ (E206*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 452544	NM_152274.5(CCNQ):c.538G>A (p.Gly180Arg)	CCNQ (G180R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 509623	NM_152274.5(CCNQ):c.453C>T (p.Ser151=)	CCNQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1295143	NM_152274.5(CCNQ):c.429+171C>T	CCNQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 787521	NM_152274.5(CCNQ):c.348A>G (p.Glu116=)	CCNQ	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1259140	NM_152274.5(CCNQ):c.297-320A>G	CCNQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224967	NM_152274.5(CCNQ):c.296+72C>T	CCNQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260033	NM_152274.5(CCNQ):c.113-85T>C	CCNQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280503	NM_152274.5(CCNQ):c.113-224A>G	CCNQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253616	GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253588	GRCh37/hg19 Xq27.3-28(chrX:142174780-155250222)x2	ABCD1, AFF2 +130 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253579	GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1	CETN2, CLIC2 +222 more	Copy number loss	See cases	GPathogenic
Select item 253572	GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic

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Items: 32