Related gene-specific medical variations for Gene (Select 55755) - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245364	NC_000009.11:g.(?_123151514)_(123330686_?)dup	CDK5RAP2	Duplication	not provided	GUncertain significance
Select item 3245363	NC_000009.11:g.(?_123334232)_(123334339_?)del	CDK5RAP2	Deletion	not provided	GPathogenic
Select item 3233369	NM_018249.6(CDK5RAP2):c.1865C>G (p.Ser622Ter)	CDK5RAP2 (S621* +1 more)	Single nucleotide variant (nonsense +1 more)	Microcephaly 3, primary, autosomal recessive	GPathogenic
Select item 3064977	NM_018249.6(CDK5RAP2):c.2107-20C>G	CDK5RAP2	Single nucleotide variant (non-coding transcript variant +1 more)	Microcephaly 3, primary, autosomal recessive	GLikely benign
Select item 3064692	NM_018249.6(CDK5RAP2):c.2113G>A (p.Ala705Thr)	CDK5RAP2 (A704T +1 more)	Single nucleotide variant (missense variant +2 more)	Microcephaly 3, primary, autosomal recessive	GUncertain significance
Select item 3064149	NM_018249.6(CDK5RAP2):c.5579T>A (p.Leu1860Ter)	CDK5RAP2 (L1630* +5 more)	Single nucleotide variant (nonsense +1 more)	Microcephaly 3, primary, autosomal recessive	GLikely pathogenic
Select item 3064144	NM_018249.6(CDK5RAP2):c.3851T>A (p.Leu1284Ter)	CDK5RAP2 (L1054* +4 more)	Single nucleotide variant (nonsense +1 more)	Microcephaly 3, primary, autosomal recessive	GPathogenic
Select item 2687848	NM_018249.6(CDK5RAP2):c.140T>N (p.Val47Xaa)	CDK5RAP2 (V47*)	Single nucleotide variant (missense variant +1 more)	not specified	GPathogenic
Select item 2439880	NM_018249.6(CDK5RAP2):c.3965T>A (p.Val1322Asp)	CDK5RAP2 (V1092D +4 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 3, primary, autosomal recessive	GUncertain significance
Select item 2439878	NM_018249.6(CDK5RAP2):c.1161C>G (p.Asn387Lys)	CDK5RAP2 (N387K)	Single nucleotide variant (missense variant +1 more)	Microcephaly 3, primary, autosomal recessive	GUncertain significance
Select item 2439876	NM_018249.6(CDK5RAP2):c.3055G>A (p.Asp1019Asn)	CDK5RAP2 (D1018N +4 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 3, primary, autosomal recessive	GUncertain significance
Select item 2439875	NM_018249.6(CDK5RAP2):c.4269G>C (p.Leu1423Phe)	CDK5RAP2 (L1193F +4 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 3, primary, autosomal recessive	GUncertain significance
Select item 1808879	GRCh37/hg19 9q33.2(chr9:123227720-123284486)x1	CDK5RAP2	Copy number loss	not provided	GUncertain significance
Select item 1322053	NM_018249.6(CDK5RAP2):c.355G>T (p.Glu119Ter)	CDK5RAP2 (E119*)	Single nucleotide variant (nonsense +1 more)	Microcephaly 3, primary, autosomal recessive	GPathogenic
Select item 1322052	NM_018249.6(CDK5RAP2):c.3545_3546del (p.His1182fs)	CDK5RAP2 (H1182fs +1 more)	Microsatellite (frameshift variant +1 more)	Microcephaly 3, primary, autosomal recessive	GPathogenic
Select item 987372	NM_018249.6(CDK5RAP2):c.5433C>A (p.Cys1811Ter)	CDK5RAP2 (C1581* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 975659	NM_018249.6(CDK5RAP2):c.145G>A (p.Glu49Lys)	CDK5RAP2 (E49K)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GLikely benign
Select item 975518	NM_018249.6(CDK5RAP2):c.5308-4G>C	CDK5RAP2	Single nucleotide variant (intron variant)	Intellectual disability	GLikely benign
Select item 975517	NM_018249.6(CDK5RAP2):c.727G>A (p.Glu243Lys)	CDK5RAP2 (E243K)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GLikely benign
Select item 975516	NM_018249.6(CDK5RAP2):c.1490A>G (p.Asn497Ser)	CDK5RAP2 (N497S)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GLikely benign
Select item 975515	NM_018249.6(CDK5RAP2):c.5345G>A (p.Ser1782Asn)	CDK5RAP2 (S1552N +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GLikely benign
Select item 975514	NM_018249.6(CDK5RAP2):c.2284G>A (p.Ala762Thr)	CDK5RAP2 (A762T)	Single nucleotide variant (missense variant +2 more)	Intellectual disability	GLikely benign
Select item 930567	NM_018249.6(CDK5RAP2):c.881C>T (p.Ala294Val)	CDK5RAP2 (A294V)	Single nucleotide variant (missense variant +1 more)	Microcephaly 3, primary, autosomal recessive	GUncertain significance
Select item 930221	NM_018249.6(CDK5RAP2):c.1627-18G>T	CDK5RAP2	Single nucleotide variant (intron variant)	Microcephaly 3, primary, autosomal recessive	GUncertain significance
Select item 811458	NM_018249.6(CDK5RAP2):c.5141C>T (p.Thr1714Ile)	CDK5RAP2 (T1484I +2 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 3, primary, autosomal recessive	GUncertain significance
Select item 810412	NM_018249.6(CDK5RAP2):c.2714C>T (p.Ala905Val)	CDK5RAP2 (A905V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 688332	GRCh37/hg19 9q33.2(chr9:123292273-123310996)x1	CDK5RAP2	Copy number loss	not provided	GPathogenic
Select item 687236	GRCh37/hg19 9q33.2(chr9:123292273-123310737)x1	CDK5RAP2	Copy number loss	not provided	GPathogenic
Select item 687008	GRCh37/hg19 9q33.2(chr9:123292273-123314123)x1	CDK5RAP2	Copy number loss	not provided	GUncertain significance
Select item 547048	NM_018249.6(CDK5RAP2):c.632C>T (p.Ala211Val)	CDK5RAP2 (A211V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 446421	NM_018249.6(CDK5RAP2):c.4670_4671del (p.Leu1557fs)	CDK5RAP2 (L1327fs +1 more)	Microsatellite (frameshift variant +1 more)	Microcephaly 3, primary, autosomal recessive	GPathogenic
Select item 242599	NM_018249.5:c.3695A>G	CDK5RAP2 (N1232S +1 more)	Single nucleotide variant (missense variant +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 242598	NM_018249.5:c.280G>C	CDK5RAP2 (G94R)	Single nucleotide variant (missense variant +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 21658	NM_018249.6(CDK5RAP2):c.91G>A (p.Asp31Asn)	CDK5RAP2 (D31N)	Single nucleotide variant (non-coding transcript variant +1 more)	Microcephaly 3, primary, autosomal recessive	Gnot provided
Select item 21655	NM_018249.6(CDK5RAP2):c.569C>T (p.Ala190Val)	CDK5RAP2 (A190V)	Single nucleotide variant (missense variant +1 more)	Microcephaly 3, primary, autosomal recessive	Gnot provided
Select item 21653	NM_018249.6(CDK5RAP2):c.546T>G (p.Phe182Leu)	CDK5RAP2 (F182L)	Single nucleotide variant (missense variant +1 more)	Microcephaly 3, primary, autosomal recessive	Gnot provided
Select item 21650	NM_018249.6(CDK5RAP2):c.4547A>G (p.Glu1516Gly)	CDK5RAP2 (E1516G +1 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 3, primary, autosomal recessive	Gnot provided
Select item 21649	NM_018249.6(CDK5RAP2):c.4103C>T (p.Ser1368Phe)	CDK5RAP2 (S1368F +1 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 3, primary, autosomal recessive	Gnot provided
Select item 21648	NM_018249.6(CDK5RAP2):c.409G>T (p.Ala137Ser)	CDK5RAP2 (A137S)	Single nucleotide variant (missense variant +1 more)	Microcephaly 3, primary, autosomal recessive	Gnot provided
Select item 21647	NM_018249.6(CDK5RAP2):c.3989A>T (p.Asn1330Ile)	CDK5RAP2 (N1330I +1 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 3, primary, autosomal recessive	Gnot provided
Select item 21644	NM_018249.6(CDK5RAP2):c.2599G>A (p.Gly867Arg)	CDK5RAP2 (G867R)	Single nucleotide variant (missense variant +2 more)	Microcephaly 3, primary, autosomal recessive	Gnot provided

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Links from Gene

Items: 41