ClinVar for Gene (Select 113130) - ClinVar

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Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3265088	NM_080668.4(CDCA5):c.359C>G (p.Pro120Arg)	CDCA5 (P120R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684648	GRCh37/hg19 11q13.1(chr11:64573225-65193732)x3	GPHA2, POLA2 +29 more	Copy number gain	not provided	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2551868	NM_080668.4(CDCA5):c.667C>T (p.Pro223Ser)	CDCA5 (P223S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468582	NM_080668.4(CDCA5):c.687G>C (p.Glu229Asp)	CDCA5 (E229D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2388887	NM_080668.4(CDCA5):c.217G>T (p.Val73Phe)	CDCA5 (V73F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300228	NM_080668.4(CDCA5):c.10A>G (p.Arg4Gly)	CDCA5, LOC130005988 (R4G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262166	NM_080668.4(CDCA5):c.683C>T (p.Thr228Met)	CDCA5 (T228M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251823	NM_080668.4(CDCA5):c.505G>A (p.Glu169Lys)	CDCA5 (E169K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235108	NM_080668.4(CDCA5):c.508G>A (p.Gly170Arg)	CDCA5 (G170R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217817	NM_080668.4(CDCA5):c.325C>T (p.Pro109Ser)	CDCA5 (P109S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1449359	NC_000011.9:g.(?_64522783)_(66283694_?)del	AP5B1, ARL2 +81 more	Deletion	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 791173	NM_080668.4(CDCA5):c.519G>A (p.Gly173=)	CDCA5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781003	NM_080668.4(CDCA5):c.535G>A (p.Gly179Arg)	CDCA5 (G179R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 729058	NM_080668.4(CDCA5):c.360T>A (p.Pro120=)	CDCA5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 720322	NM_080668.4(CDCA5):c.367G>A (p.Glu123Lys)	CDCA5 (E123K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 716423	NM_080668.4(CDCA5):c.315A>G (p.Thr105=)	CDCA5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 714410	NM_080668.4(CDCA5):c.243+10C>T	CDCA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 709975	NM_080668.4(CDCA5):c.654G>A (p.Lys218=)	CDCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 687992	GRCh37/hg19 11q13.1(chr11:64396501-64883447)x3	ARL2, ATG2A +21 more	Copy number gain	not provided	GUncertain significance
Select item 634998	dup(11)(q13.1q13.1)	ATG2A, BAD +74 more	Duplication	Ependymoma	GLikely pathogenic
Select item 443398	GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3	ACTN3, ANKRD13D +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 28