"Ambry Genetics"[submitter] AND "CDK5RAP2"[gene] - ClinVar

Search results

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2403142	NM_018249.6(CDK5RAP2):c.5647C>T (p.Pro1883Ser)	CDK5RAP2 (P1851S +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2230574	NM_018249.6(CDK5RAP2):c.5626del (p.Arg1877fs)	CDK5RAP2 (R1877fs +2 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2229124	NM_018249.6(CDK5RAP2):c.5626C>G (p.Leu1876Val)	CDK5RAP2 (L1844V +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2307623	NM_018249.6(CDK5RAP2):c.5516T>C (p.Leu1839Ser)	CDK5RAP2 (L1609S +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2288205	NM_018249.6(CDK5RAP2):c.5386C>T (p.Arg1796Trp)	CDK5RAP2 (R1764W +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 421992	NM_018249.6(CDK5RAP2):c.5373A>C (p.Glu1791Asp)	CDK5RAP2 (E1791D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 158160	NM_018249.6(CDK5RAP2):c.5359A>C (p.Lys1787Gln)	CDK5RAP2 (K1787Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1172684	NM_018249.6(CDK5RAP2):c.5354C>T (p.Thr1785Met)	CDK5RAP2 (T1555M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 786577	NM_018249.6(CDK5RAP2):c.5308-6G>T	CDK5RAP2	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 158156	NM_018249.6(CDK5RAP2):c.5152C>G (p.Leu1718Val)	CDK5RAP2 (L1718V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2189968	NM_018249.6(CDK5RAP2):c.5126T>C (p.Val1709Ala)	CDK5RAP2 (V1677A +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2283838	NM_018249.6(CDK5RAP2):c.5125G>C (p.Val1709Leu)	CDK5RAP2 (V1676L +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 418997	NM_018249.6(CDK5RAP2):c.5105C>T (p.Ser1702Leu)	CDK5RAP2 (S1702L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2492034	NM_018249.6(CDK5RAP2):c.4973A>G (p.Lys1658Arg)	CDK5RAP2 (K1626R +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2325150	NM_018249.6(CDK5RAP2):c.4949A>C (p.Gln1650Pro)	CDK5RAP2 (Q1617P +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2381640	NM_018249.6(CDK5RAP2):c.4876G>C (p.Gly1626Arg)	CDK5RAP2 (G1594R +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2546411	NM_018249.6(CDK5RAP2):c.4781T>G (p.Leu1594Arg)	CDK5RAP2 (L1364R +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2340207	NM_018249.6(CDK5RAP2):c.4681C>G (p.Leu1561Val)	CDK5RAP2 (L1528V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2228961	NM_018249.6(CDK5RAP2):c.4594_4595delinsAT (p.Glu1532Met)	CDK5RAP2 (E1302M +4 more)	Indel (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1199107	NM_018249.6(CDK5RAP2):c.4579C>T (p.Arg1527Cys)	CDK5RAP2 (R1297C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2303103	NM_018249.6(CDK5RAP2):c.4486C>T (p.Arg1496Trp)	CDK5RAP2 (R1463W +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2595560	NM_018249.6(CDK5RAP2):c.4222C>G (p.Arg1408Gly)	CDK5RAP2 (R1376G +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases +2 more	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)	Microcephaly 3, primary, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 2403736	NM_018249.6(CDK5RAP2):c.4156A>G (p.Met1386Val)	CDK5RAP2 (M1156V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1961460	NM_018249.6(CDK5RAP2):c.4105T>C (p.Phe1369Leu)	CDK5RAP2 (F1336L +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2488424	NM_018249.6(CDK5RAP2):c.4073C>T (p.Ala1358Val)	CDK5RAP2 (A1325V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2261109	NM_018249.6(CDK5RAP2):c.4052C>T (p.Pro1351Leu)	CDK5RAP2 (P1121L +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2546052	NM_018249.6(CDK5RAP2):c.4036C>T (p.Leu1346Phe)	CDK5RAP2 (L1313F +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2387740	NM_018249.6(CDK5RAP2):c.3848A>T (p.Glu1283Val)	CDK5RAP2 (E1053V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2387739	NM_018249.6(CDK5RAP2):c.3847G>A (p.Glu1283Lys)	CDK5RAP2 (E1250K +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1923688	NM_018249.6(CDK5RAP2):c.3763C>T (p.Leu1255Phe)	CDK5RAP2 (L1222F +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2242749	NM_018249.6(CDK5RAP2):c.3734T>C (p.Leu1245Ser)	CDK5RAP2 (L1015S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2254009	NM_018249.6(CDK5RAP2):c.3727G>A (p.Asp1243Asn)	CDK5RAP2 (D1013N +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2596756	NM_018249.6(CDK5RAP2):c.3562C>T (p.Pro1188Ser)	CDK5RAP2 (P1155S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 914475	NM_018249.6(CDK5RAP2):c.3523C>T (p.His1175Tyr)	CDK5RAP2 (H945Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2300023	NM_018249.6(CDK5RAP2):c.3481A>G (p.Lys1161Glu)	CDK5RAP2 (K931E +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2379459	NM_018249.6(CDK5RAP2):c.3388A>G (p.Ile1130Val)	CDK5RAP2 (I1130V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2541569	NM_018249.6(CDK5RAP2):c.3317C>T (p.Ser1106Leu)	CDK5RAP2 (S1073L +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2537043	NM_018249.6(CDK5RAP2):c.3208G>C (p.Glu1070Gln)	CDK5RAP2 (E1037Q +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2526610	NM_018249.6(CDK5RAP2):c.3160T>C (p.Cys1054Arg)	CDK5RAP2 (C1053R +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 209966	NM_018249.6(CDK5RAP2):c.3097del (p.Val1033fs)	CDK5RAP2 (V1033fs +1 more)	Deletion (non-coding transcript variant +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 2598798	NM_018249.6(CDK5RAP2):c.3092C>T (p.Ser1031Phe)	CDK5RAP2 (S999F +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 364760	NM_018249.6(CDK5RAP2):c.3002C>T (p.Thr1001Met)	CDK5RAP2 (T1001M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 743590	NM_018249.6(CDK5RAP2):c.2885C>T (p.Thr962Met)	CDK5RAP2 (T962M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2060294	NM_018249.6(CDK5RAP2):c.2837G>A (p.Arg946Gln)	CDK5RAP2 (R945Q +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2480514	NM_018249.6(CDK5RAP2):c.2749G>C (p.Gly917Arg)	CDK5RAP2 (G885R +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2306684	NM_018249.6(CDK5RAP2):c.2723G>A (p.Arg908Gln)	CDK5RAP2 (R908Q +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2188879	NM_018249.6(CDK5RAP2):c.2722C>T (p.Arg908Trp)	CDK5RAP2 (R875W +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 810411	NM_018249.6(CDK5RAP2):c.2720A>T (p.His907Leu)	CDK5RAP2 (H907L)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2300580	NM_018249.6(CDK5RAP2):c.2665G>A (p.Ala889Thr)	CDK5RAP2 (A857T +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 364762	NM_018249.6(CDK5RAP2):c.2655C>G (p.Phe885Leu)	CDK5RAP2 (F885L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 364763	NM_018249.6(CDK5RAP2):c.2645T>C (p.Leu882Pro)	CDK5RAP2 (L882P)	Single nucleotide variant (missense variant +2 more)	Microcephaly 3, primary, autosomal recessive +1 more	GUncertain significance
Select item 364764	NM_018249.6(CDK5RAP2):c.2633C>T (p.Thr878Met)	CDK5RAP2 (T878M)	Single nucleotide variant (missense variant +2 more)	Microcephaly 3, primary, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 434646	NM_018249.6(CDK5RAP2):c.2602C>G (p.Leu868Val)	CDK5RAP2 (L868V)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GUncertain significance
Select item 2200617	NM_018249.6(CDK5RAP2):c.2398C>T (p.Arg800Trp)	CDK5RAP2 (R799W +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2403141	NM_018249.6(CDK5RAP2):c.2290G>C (p.Ala764Pro)	CDK5RAP2 (A764P +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2231020	NM_018249.6(CDK5RAP2):c.2168T>G (p.Phe723Cys)	CDK5RAP2 (F722C +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2598558	NM_018249.6(CDK5RAP2):c.2144T>C (p.Ile715Thr)	CDK5RAP2 (I715T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2300145	NM_018249.6(CDK5RAP2):c.2065A>G (p.Asn689Asp)	CDK5RAP2 (N688D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2230117	NM_018249.6(CDK5RAP2):c.2045C>T (p.Ser682Phe)	CDK5RAP2 (S681F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2614302	NM_018249.6(CDK5RAP2):c.1973G>A (p.Ser658Asn)	CDK5RAP2 (S658N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2532156	NM_018249.6(CDK5RAP2):c.1846C>G (p.Arg616Gly)	CDK5RAP2 (R616G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2405510	NM_018249.6(CDK5RAP2):c.1771C>T (p.Arg591Trp)	CDK5RAP2 (R591W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2081515	NM_018249.6(CDK5RAP2):c.1727+6C>G	CDK5RAP2	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2212568	NM_018249.6(CDK5RAP2):c.1649A>G (p.Tyr550Cys)	CDK5RAP2 (Y550C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 434647	NM_018249.6(CDK5RAP2):c.1382A>G (p.Tyr461Cys)	CDK5RAP2 (Y461C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2352257	NM_018249.6(CDK5RAP2):c.1343A>G (p.Asn448Ser)	CDK5RAP2 (N448S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1307591	NM_018249.6(CDK5RAP2):c.1280G>A (p.Arg427Gln)	CDK5RAP2 (R427Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2254497	NM_018249.6(CDK5RAP2):c.1154C>T (p.Ser385Leu)	CDK5RAP2 (S385L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2622374	NM_018249.6(CDK5RAP2):c.1118T>C (p.Leu373Pro)	CDK5RAP2 (L373P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2531622	NM_018249.6(CDK5RAP2):c.1001T>C (p.Val334Ala)	CDK5RAP2 (V334A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2164094	NM_018249.6(CDK5RAP2):c.976G>T (p.Ala326Ser)	CDK5RAP2 (A326S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2370329	NM_018249.6(CDK5RAP2):c.887A>T (p.Glu296Val)	CDK5RAP2 (E296V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2338339	NM_018249.6(CDK5RAP2):c.691A>G (p.Lys231Glu)	CDK5RAP2 (K231E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2606406	NM_018249.6(CDK5RAP2):c.663A>G (p.Arg221=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2275526	NM_018249.6(CDK5RAP2):c.662+5G>A	CDK5RAP2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2362237	NM_018249.6(CDK5RAP2):c.660C>A (p.Asp220Glu)	CDK5RAP2 (D220E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 158169	NM_018249.6(CDK5RAP2):c.574C>T (p.Arg192Trp)	CDK5RAP2 (R192W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2456395	NM_018249.6(CDK5RAP2):c.568G>C (p.Ala190Pro)	CDK5RAP2 (A190P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2359436	NM_018249.6(CDK5RAP2):c.550G>A (p.Gly184Arg)	CDK5RAP2 (G184R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2374371	NM_018249.6(CDK5RAP2):c.541G>T (p.Ala181Ser)	CDK5RAP2 (A181S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2419562	NM_018249.6(CDK5RAP2):c.431G>A (p.Arg144Gln)	CDK5RAP2 (R144Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2549341	NM_018249.6(CDK5RAP2):c.418T>C (p.Ser140Pro)	CDK5RAP2 (S140P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2623763	NM_018249.6(CDK5RAP2):c.391G>T (p.Val131Phe)	CDK5RAP2 (V131F)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2216514	NM_018249.6(CDK5RAP2):c.377A>G (p.Lys126Arg)	CDK5RAP2 (K126R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2259087	NM_018249.6(CDK5RAP2):c.343C>T (p.Arg115Trp)	CDK5RAP2 (R115W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2338964	NM_018249.6(CDK5RAP2):c.241A>G (p.Ile81Val)	CDK5RAP2 (I81V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2374322	NM_018249.6(CDK5RAP2):c.190G>A (p.Glu64Lys)	CDK5RAP2 (E64K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 429445	NM_018249.6(CDK5RAP2):c.104C>G (p.Pro35Arg)	CDK5RAP2 (P35R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance

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Items: 91