ClinVar for OMIM (Select 604804) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3255584	NM_018249.6(CDK5RAP2):c.2887C>T (p.Gln963Ter)	CDK5RAP2 (Q733* +4 more)	Single nucleotide variant (nonsense +1 more)	Microcephaly 3, primary, autosomal recessive	GLikely pathogenic
Select item 3235013	NM_018249.6(CDK5RAP2):c.866_867dup (p.Glu290fs)	CDK5RAP2 (E290fs)	Duplication (frameshift variant +1 more)	Microcephaly 3, primary, autosomal recessive	GLikely pathogenic
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 3063572	NM_018249.6(CDK5RAP2):c.217_220del (p.Glu73fs)	CDK5RAP2 (E73fs)	Microsatellite (frameshift variant +1 more)	Microcephaly 3, primary, autosomal recessive	GPathogenic
Select item 2664172	NM_018249.6(CDK5RAP2):c.1092+1G>A	CDK5RAP2	Single nucleotide variant (splice donor variant)	Microcephaly 3, primary, autosomal recessive	GLikely pathogenic
Select item 2439881	NM_018249.6(CDK5RAP2):c.5212C>G (p.Leu1738Val)	CDK5RAP2 (L1508V +5 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 3, primary, autosomal recessive +1 more	GUncertain significance
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 2439877	NM_018249.6(CDK5RAP2):c.3564G>A (p.Pro1188=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	Microcephaly 3, primary, autosomal recessive +1 more	GConflicting classifications of pathogenicity
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 2412804	NM_018249.6(CDK5RAP2):c.3610C>T (p.Gln1204Ter)	CDK5RAP2 (Q1171* +4 more)	Single nucleotide variant (nonsense +1 more)	Microcephaly 3, primary, autosomal recessive	GLikely pathogenic
Select item 2216514	NM_018249.6(CDK5RAP2):c.377A>G (p.Lys126Arg)	CDK5RAP2 (K126R)	Single nucleotide variant (missense variant +1 more)	Microcephaly 3, primary, autosomal recessive +1 more	GUncertain significance
Select item 2081332	NM_018249.6(CDK5RAP2):c.5075C>T (p.Thr1692Met)	CDK5RAP2 (T1659M +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1802606	NM_018249.6(CDK5RAP2):c.558_559del (p.Glu186fs)	CDK5RAP2 (E186fs)	Microsatellite (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 1705090	NM_018249.6(CDK5RAP2):c.4414+1G>A	CDK5RAP2	Single nucleotide variant (splice donor variant)	Microcephaly 3, primary, autosomal recessive	GLikely pathogenic
Select item 1683696	NM_018249.6(CDK5RAP2):c.1654_1655delinsTT (p.Glu552Leu)	CDK5RAP2 (E552L)	Indel (missense variant +1 more)	Microcephaly 3, primary, autosomal recessive +1 more	GUncertain significance
Select item 1345026	NM_018249.6(CDK5RAP2):c.1855G>A (p.Glu619Lys)	CDK5RAP2 (E619K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 1177460	NM_018249.6(CDK5RAP2):c.564_565dup (p.Lys189fs)	CDK5RAP2 (K189fs)	Microsatellite (frameshift variant +1 more)	Microcephaly 3, primary, autosomal recessive	GPathogenic
Select item 1048515	NM_018249.6(CDK5RAP2):c.5152del (p.Leu1718fs)	CDK5RAP2 (L1488fs +2 more)	Deletion (frameshift variant +1 more)	Microcephaly 3, primary, autosomal recessive	GLikely pathogenic
Select item 1048514	NM_018249.6(CDK5RAP2):c.4963+1G>A	CDK5RAP2	Single nucleotide variant (splice donor variant +1 more)	Microcephaly 3, primary, autosomal recessive	GLikely pathogenic
Select item 1033896	NM_018249.6(CDK5RAP2):c.4556A>G (p.Asn1519Ser)	CDK5RAP2 (N1519S +1 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 3, primary, autosomal recessive	GUncertain significance
Select item 1033895	NM_018249.6(CDK5RAP2):c.4175A>G (p.Gln1392Arg)	CDK5RAP2 (Q1162R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1032030	NM_018249.6(CDK5RAP2):c.2288A>G (p.His763Arg)	CDK5RAP2 (H763R)	Single nucleotide variant (missense variant +2 more)	Microcephaly 3, primary, autosomal recessive	GUncertain significance
Select item 1032029	NM_018249.6(CDK5RAP2):c.4626G>T (p.Leu1542Phe)	CDK5RAP2 (L1312F +1 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 3, primary, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 1029687	NM_018249.6(CDK5RAP2):c.761T>C (p.Val254Ala)	CDK5RAP2 (V254A)	Single nucleotide variant (missense variant +1 more)	Microcephaly 3, primary, autosomal recessive	GUncertain significance
Select item 1029686	NM_018249.6(CDK5RAP2):c.4222C>T (p.Arg1408Cys)	CDK5RAP2 (R1408C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1029685	NM_018249.6(CDK5RAP2):c.2788A>T (p.Asn930Tyr)	CDK5RAP2 (N930Y)	Single nucleotide variant (missense variant +2 more)	Microcephaly 3, primary, autosomal recessive	GUncertain significance
Select item 1029684	NM_018249.6(CDK5RAP2):c.195T>A (p.Asn65Lys)	CDK5RAP2 (N65K)	Single nucleotide variant (missense variant +1 more)	Microcephaly 3, primary, autosomal recessive	GUncertain significance
Select item 1029683	NM_018249.6(CDK5RAP2):c.1279C>T (p.Arg427Ter)	CDK5RAP2 (R427*)	Single nucleotide variant (nonsense +1 more)	Microcephaly 3, primary, autosomal recessive	GPathogenic
Select item 977907	NM_018249.6(CDK5RAP2):c.968del (p.Gly322_Leu323insTer)	CDK5RAP2	Deletion (nonsense +1 more)	Microcephaly 3, primary, autosomal recessive	GLikely pathogenic
Select item 977861	NM_018249.6(CDK5RAP2):c.3723-2A>C	CDK5RAP2	Single nucleotide variant (splice acceptor variant)	Microcephaly 3, primary, autosomal recessive	GLikely pathogenic
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 915074	NM_018249.6(CDK5RAP2):c.430C>T (p.Arg144Trp)	CDK5RAP2 (R144W)	Single nucleotide variant (missense variant +1 more)	Microcephaly 3, primary, autosomal recessive +1 more	GUncertain significance
Select item 915041	NM_018249.6(CDK5RAP2):c.1740G>A (p.Leu580=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	Microcephaly 3, primary, autosomal recessive	GUncertain significance
Select item 914987	NM_018249.6(CDK5RAP2):c.3174C>A (p.Asp1058Glu)	CDK5RAP2 (D828E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 914939	NM_018249.6(CDK5RAP2):c.5121G>A (p.Pro1707=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 914517	NM_018249.6(CDK5RAP2):c.2376-11T>C	CDK5RAP2	Single nucleotide variant (intron variant)	Microcephaly 3, primary, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 914475	NM_018249.6(CDK5RAP2):c.3523C>T (p.His1175Tyr)	CDK5RAP2 (H945Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 914474	NM_018249.6(CDK5RAP2):c.3722+14C>G	CDK5RAP2	Single nucleotide variant (intron variant)	Microcephaly 3, primary, autosomal recessive	GUncertain significance
Select item 914418	NM_018249.6(CDK5RAP2):c.5318C>T (p.Pro1773Leu)	CDK5RAP2 (P1694L +2 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 3, primary, autosomal recessive	GUncertain significance
Select item 913868	NM_018249.6(CDK5RAP2):c.-156G>A	CDK5RAP2	Single nucleotide variant (5 prime UTR variant +1 more)	Microcephaly 3, primary, autosomal recessive	GUncertain significance
Select item 913867	NM_018249.6(CDK5RAP2):c.-93G>A	CDK5RAP2	Single nucleotide variant (5 prime UTR variant +1 more)	Microcephaly 3, primary, autosomal recessive	GUncertain significance
Select item 913866	NM_018249.6(CDK5RAP2):c.-58G>T	CDK5RAP2	Single nucleotide variant (5 prime UTR variant +1 more)	Microcephaly 3, primary, autosomal recessive +1 more	GUncertain significance
Select item 913491	NM_018249.6(CDK5RAP2):c.108T>C (p.Asn36=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	Microcephaly 3, primary, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 913442	NM_018249.6(CDK5RAP2):c.1094G>A (p.Gly365Glu)	CDK5RAP2 (G365E)	Single nucleotide variant (missense variant +1 more)	Microcephaly 3, primary, autosomal recessive	GUncertain significance
Select item 913441	NM_018249.6(CDK5RAP2):c.1139C>T (p.Ser380Leu)	CDK5RAP2 (S380L)	Single nucleotide variant (missense variant +1 more)	Microcephaly 3, primary, autosomal recessive	GUncertain significance
Select item 913405	NM_018249.6(CDK5RAP2):c.2484G>A (p.Lys828=)	CDK5RAP2	Single nucleotide variant (synonymous variant +2 more)	Microcephaly 3, primary, autosomal recessive	GUncertain significance
Select item 913404	NM_018249.6(CDK5RAP2):c.2544A>G (p.Glu848=)	CDK5RAP2	Single nucleotide variant (synonymous variant +2 more)	Microcephaly 3, primary, autosomal recessive	GUncertain significance
Select item 913403	NM_018249.6(CDK5RAP2):c.2573T>G (p.Val858Gly)	CDK5RAP2 (V858G)	Single nucleotide variant (missense variant +2 more)	Microcephaly 3, primary, autosomal recessive	GUncertain significance
Select item 913353	NM_018249.6(CDK5RAP2):c.4123A>C (p.Lys1375Gln)	CDK5RAP2 (K1145Q +1 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 3, primary, autosomal recessive	GUncertain significance
Select item 913352	NM_018249.6(CDK5RAP2):c.4165A>T (p.Ser1389Cys)	CDK5RAP2 (S1389C +1 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 3, primary, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 913351	NM_018249.6(CDK5RAP2):c.4476G>T (p.Glu1492Asp)	CDK5RAP2 (E1262D +1 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 3, primary, autosomal recessive	GUncertain significance
Select item 913350	NM_018249.6(CDK5RAP2):c.4605-13G>T	CDK5RAP2	Single nucleotide variant (intron variant)	Microcephaly 3, primary, autosomal recessive	GUncertain significance
Select item 913303	NM_018249.6(CDK5RAP2):c.*30T>A	CDK5RAP2	Single nucleotide variant (3 prime UTR variant +1 more)	Microcephaly 3, primary, autosomal recessive	GUncertain significance
Select item 913302	NM_018249.6(CDK5RAP2):c.*211C>G	CDK5RAP2	Single nucleotide variant (3 prime UTR variant +1 more)	Microcephaly 3, primary, autosomal recessive	GUncertain significance
Select item 913034	NM_018249.6(CDK5RAP2):c.2793+13A>G	CDK5RAP2	Single nucleotide variant (intron variant)	Microcephaly 3, primary, autosomal recessive	GUncertain significance
Select item 913033	NM_018249.6(CDK5RAP2):c.2939C>T (p.Thr980Ile)	CDK5RAP2 (T980I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 912941	NM_018249.6(CDK5RAP2):c.*311C>T	CDK5RAP2	Single nucleotide variant (3 prime UTR variant +1 more)	Microcephaly 3, primary, autosomal recessive	GUncertain significance
Select item 912940	NM_018249.6(CDK5RAP2):c.*331A>T	CDK5RAP2	Single nucleotide variant (3 prime UTR variant +1 more)	Microcephaly 3, primary, autosomal recessive	GUncertain significance
Select item 912361	NM_018249.6(CDK5RAP2):c.267A>C (p.Gln89His)	CDK5RAP2 (Q89H)	Single nucleotide variant (missense variant +1 more)	Microcephaly 3, primary, autosomal recessive	GUncertain significance
Select item 912360	NM_018249.6(CDK5RAP2):c.376A>C (p.Lys126Gln)	CDK5RAP2 (K126Q)	Single nucleotide variant (missense variant +1 more)	Microcephaly 3, primary, autosomal recessive	GUncertain significance
Select item 912359	NM_018249.6(CDK5RAP2):c.383C>T (p.Ser128Phe)	CDK5RAP2 (S128F)	Single nucleotide variant (missense variant +1 more)	Microcephaly 3, primary, autosomal recessive	GUncertain significance
Select item 912316	NM_018249.6(CDK5RAP2):c.1192C>T (p.Arg398Cys)	CDK5RAP2 (R398C)	Single nucleotide variant (missense variant +1 more)	Microcephaly 3, primary, autosomal recessive	GUncertain significance
Select item 912315	NM_018249.6(CDK5RAP2):c.1454G>T (p.Ser485Ile)	CDK5RAP2 (S485I)	Single nucleotide variant (missense variant +1 more)	Microcephaly 3, primary, autosomal recessive	GUncertain significance
Select item 873462	NM_018249.6(CDK5RAP2):c.4114C>T (p.Arg1372Ter)	CDK5RAP2 (R1372* +1 more)	Single nucleotide variant (nonsense +1 more)	Microcephaly 3, primary, autosomal recessive	GLikely pathogenic
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 788649	NM_018249.6(CDK5RAP2):c.5517G>A (p.Leu1839=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 694014	NM_018249.6(CDK5RAP2):c.4228G>A (p.Glu1410Lys)	CDK5RAP2 (E1180K +1 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 3, primary, autosomal recessive	GUncertain significance
Select item 694012	NM_018249.6(CDK5RAP2):c.1376del (p.Asn459fs)	CDK5RAP2 (N459fs)	Deletion (frameshift variant +1 more)	Microcephaly 3, primary, autosomal recessive	GPathogenic
Select item 670443	NM_018249.6(CDK5RAP2):c.196-66A>G	CDK5RAP2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 585061	NM_018249.6(CDK5RAP2):c.4129G>T (p.Asp1377Tyr)	CDK5RAP2 (D1377Y +1 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 3, primary, autosomal recessive	Gnot provided
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 434656	NM_018249.6(CDK5RAP2):c.2852T>G (p.Met951Arg)	CDK5RAP2 (M951R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 434655	NM_018249.6(CDK5RAP2):c.3769C>T (p.Arg1257Trp)	CDK5RAP2 (R1257W +1 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 3, primary, autosomal recessive +2 more	GUncertain significance
Select item 434649	NM_018249.6(CDK5RAP2):c.519C>T (p.Ala173=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	Microcephaly 3, primary, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 430628	NM_018249.6(CDK5RAP2):c.5127_5128dup (p.Ser1710fs)	CDK5RAP2 (S1480fs +2 more)	Microsatellite (frameshift variant +1 more)	Microcephaly 3, primary, autosomal recessive	GPathogenic
Select item 386247	NM_018249.6(CDK5RAP2):c.3003G>A (p.Thr1001=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	Microcephaly 3, primary, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 379320	NM_018249.6(CDK5RAP2):c.412G>A (p.Gly138Ser)	CDK5RAP2 (G138S)	Single nucleotide variant (missense variant +1 more)	Microcephaly 3, primary, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 377644	NM_018249.6(CDK5RAP2):c.3361A>G (p.Thr1121Ala)	CDK5RAP2 (T1121A +1 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 3, primary, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 374629	NM_018249.6(CDK5RAP2):c.2571A>G (p.Leu857=)	CDK5RAP2	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 364793	NM_018249.6(CDK5RAP2):c.-185C>G	CDK5RAP2	Single nucleotide variant (5 prime UTR variant +1 more)	Microcephaly 3, primary, autosomal recessive	GUncertain significance
Select item 364790	NM_018249.6(CDK5RAP2):c.-154C>T	CDK5RAP2	Single nucleotide variant (5 prime UTR variant +1 more)	Microcephaly 3, primary, autosomal recessive	GUncertain significance
Select item 364788	NM_018249.6(CDK5RAP2):c.-111A>G	CDK5RAP2	Single nucleotide variant (5 prime UTR variant +1 more)	Microcephaly 3, primary, autosomal recessive	GUncertain significance
Select item 364787	NM_018249.6(CDK5RAP2):c.-3G>C	CDK5RAP2	Single nucleotide variant (5 prime UTR variant +1 more)	Microcephaly 3, primary, autosomal recessive	GUncertain significance
Select item 364786	NM_018249.6(CDK5RAP2):c.128-10C>G	CDK5RAP2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 364785	NM_018249.6(CDK5RAP2):c.383C>G (p.Ser128Cys)	CDK5RAP2 (S128C)	Single nucleotide variant (missense variant +1 more)	Microcephaly 3, primary, autosomal recessive +1 more	GUncertain significance
Select item 364784	NM_018249.6(CDK5RAP2):c.506A>C (p.Lys169Thr)	CDK5RAP2 (K169T)	Single nucleotide variant (missense variant +1 more)	Microcephaly 3, primary, autosomal recessive	GUncertain significance
Select item 364783	NM_018249.6(CDK5RAP2):c.507+5G>C	CDK5RAP2	Single nucleotide variant (intron variant)	Microcephaly 3, primary, autosomal recessive	GUncertain significance
Select item 364782	NM_018249.6(CDK5RAP2):c.575G>A (p.Arg192Gln)	CDK5RAP2 (R192Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 364781	NM_018249.6(CDK5RAP2):c.703G>A (p.Ala235Thr)	CDK5RAP2 (A235T)	Single nucleotide variant (missense variant +1 more)	Microcephaly 3, primary, autosomal recessive +2 more	GUncertain significance
Select item 364780	NM_018249.6(CDK5RAP2):c.817G>A (p.Glu273Lys)	CDK5RAP2 (E273K)	Single nucleotide variant (missense variant +1 more)	Microcephaly 3, primary, autosomal recessive	GUncertain significance
Select item 364779	NM_018249.6(CDK5RAP2):c.978A>G (p.Ala326=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	Microcephaly 3, primary, autosomal recessive +1 more	GConflicting classifications of pathogenicity

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