"GeneDx"[submitter] AND "CDK5RAP2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1218482	NM_018249.6(CDK5RAP2):c.5626-80C>T	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678323	NM_018249.6(CDK5RAP2):c.5626-109T>C	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 419838	NM_018249.6(CDK5RAP2):c.5584G>A (p.Val1862Ile)	CDK5RAP2 (V1862I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 158168	NM_018249.6(CDK5RAP2):c.5579-34G>C	CDK5RAP2	Single nucleotide variant (intron variant)	Microcephaly 3, primary, autosomal recessive +1 more	GBenign
Select item 678322	NM_018249.6(CDK5RAP2):c.5579-176T>G	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214563	NM_018249.6(CDK5RAP2):c.5579-195C>T	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215159	NM_018249.6(CDK5RAP2):c.5579-242A>G	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193969	NM_018249.6(CDK5RAP2):c.5578+316G>A	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 668865	NM_018249.6(CDK5RAP2):c.5578+310A>G	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678321	NM_018249.6(CDK5RAP2):c.5578+199T>C	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678330	NM_018249.6(CDK5RAP2):c.5578+133A>C	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211581	NM_018249.6(CDK5RAP2):c.5578+60G>C	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 158166	NM_018249.6(CDK5RAP2):c.5578+48C>T	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 158165	NM_018249.6(CDK5RAP2):c.5578+29C>G	CDK5RAP2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 158167	NM_018249.6(CDK5RAP2):c.5578T>C (p.Leu1860=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 364744	NM_018249.6(CDK5RAP2):c.5499T>G (p.Phe1833Leu)	CDK5RAP2 (F1833L +2 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 3, primary, autosomal recessive +1 more	GUncertain significance
Select item 158164	NM_018249.6(CDK5RAP2):c.5454T>G (p.Ile1818Met)	CDK5RAP2 (I1818M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 680089	NM_018249.6(CDK5RAP2):c.5451+225C>T	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 158162	NM_018249.6(CDK5RAP2):c.5418C>T (p.Pro1806=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 158161	NM_018249.6(CDK5RAP2):c.5413C>T (p.Leu1805Phe)	CDK5RAP2 (L1805F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	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 364746	NM_018249.6(CDK5RAP2):c.5355G>A (p.Thr1785=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
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 517801	NM_018249.6(CDK5RAP2):c.5313A>G (p.Pro1771=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1187627	NM_018249.6(CDK5RAP2):c.5308-30C>T	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191508	NM_018249.6(CDK5RAP2):c.5308-261G>A	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 668864	NM_018249.6(CDK5RAP2):c.5308-313G>A	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188553	NM_018249.6(CDK5RAP2):c.5307+49C>T	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 422548	NM_018249.6(CDK5RAP2):c.5222T>C (p.Ile1741Thr)	CDK5RAP2 (I1741T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 1270831	NM_018249.6(CDK5RAP2):c.5042-96C>A	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293096	NM_018249.6(CDK5RAP2):c.5041+207T>C	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678320	NM_018249.6(CDK5RAP2):c.5041+154T>C	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252518	NM_018249.6(CDK5RAP2):c.5041+80C>T	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199713	NM_018249.6(CDK5RAP2):c.4964-192G>C	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202569	NM_018249.6(CDK5RAP2):c.4963+302G>C	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 158154	NM_018249.6(CDK5RAP2):c.4821G>C (p.Arg1607Ser)	CDK5RAP2 (R1607S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GBenign/Likely benign
Select item 381386	NM_018249.6(CDK5RAP2):c.4777A>G (p.Ser1593Gly)	CDK5RAP2 (S1593G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 1203304	NM_018249.6(CDK5RAP2):c.4733C>T (p.Ser1578Leu)	CDK5RAP2 (S1348L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 678319	NM_018249.6(CDK5RAP2):c.4727-192G>C	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235220	NM_018249.6(CDK5RAP2):c.4726+320G>T	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222816	NM_018249.6(CDK5RAP2):c.4726+120G>A	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 21652	NM_018249.6(CDK5RAP2):c.4665G>T (p.Gln1555His)	CDK5RAP2 (Q1555H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
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 21651	NM_018249.6(CDK5RAP2):c.4618G>C (p.Val1540Leu)	CDK5RAP2 (V1540L +1 more)	Single nucleotide variant (missense variant +1 more)	Primary Microcephaly, Recessive +3 more	GBenign
Select item 1201006	NM_018249.6(CDK5RAP2):c.4605-11G>C	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1259911	NM_018249.6(CDK5RAP2):c.4605-81T>C	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678318	NM_018249.6(CDK5RAP2):c.4605-174G>C	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186407	NM_018249.6(CDK5RAP2):c.4604+243T>A	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199107	NM_018249.6(CDK5RAP2):c.4579C>T (p.Arg1527Cys)	CDK5RAP2 (R1297C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1293579	NM_018249.6(CDK5RAP2):c.4415-62T>C	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678306	NM_018249.6(CDK5RAP2):c.4415-161A>G	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203438	NM_018249.6(CDK5RAP2):c.4415-262dup	CDK5RAP2	Duplication (intron variant)	not provided	GLikely benign
Select item 673567	NM_018249.6(CDK5RAP2):c.4415-264G>C	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 158149	NM_018249.6(CDK5RAP2):c.4338T>A (p.Ser1446Arg)	CDK5RAP2 (S1446R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 726356	NM_018249.6(CDK5RAP2):c.4320T>A (p.Ser1440=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1309745	NM_018249.6(CDK5RAP2):c.4306A>G (p.Ser1436Gly)	CDK5RAP2 (S1206G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1234555	NM_018249.6(CDK5RAP2):c.4298-270A>G	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296440	NM_018249.6(CDK5RAP2):c.4297+201G>T	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1050586	NM_018249.6(CDK5RAP2):c.4235C>A (p.Ser1412Tyr)	CDK5RAP2 (S1182Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 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)	not provided +2 more	GConflicting classifications of pathogenicity
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 452860	NM_018249.6(CDK5RAP2):c.4039_4041delinsGTA (p.Leu1347Val)	CDK5RAP2 (L1347V +1 more)	Indel (missense variant +1 more)	not specified	GUncertain significance
Select item 136706	NM_018249.6(CDK5RAP2):c.4041G>A (p.Leu1347=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	Primary Microcephaly, Recessive +2 more	GBenign/Likely benign
Select item 1204417	NM_018249.6(CDK5RAP2):c.4005-9A>G	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 1314833	NM_018249.6(CDK5RAP2):c.3997A>C (p.Met1333Leu)	CDK5RAP2 (M1103L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 383443	NM_018249.6(CDK5RAP2):c.3954C>T (p.Asn1318=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 419774	NM_018249.6(CDK5RAP2):c.3770G>A (p.Arg1257Gln)	CDK5RAP2 (R1257Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 517757	NM_018249.6(CDK5RAP2):c.3722+19G>A	CDK5RAP2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 158142	NM_018249.6(CDK5RAP2):c.3666A>G (p.Gln1222=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	Microcephaly 3, primary, autosomal recessive +2 more	GBenign
Select item 426906	NM_018249.6(CDK5RAP2):c.3662T>C (p.Met1221Thr)	CDK5RAP2 (M1221T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1710615	NM_018249.6(CDK5RAP2):c.3580A>G (p.Ile1194Val)	CDK5RAP2 (I1161V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	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)	Inborn genetic diseases +2 more	GUncertain significance
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 1292844	NM_018249.6(CDK5RAP2):c.3149-78_3149-74del	CDK5RAP2	Microsatellite (intron variant)	not provided	GBenign
Select item 668863	NM_018249.6(CDK5RAP2):c.3149-266A>G	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 668862	NM_018249.6(CDK5RAP2):c.3148+315C>A	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212165	NM_018249.6(CDK5RAP2):c.3148+209G>A	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263389	NM_018249.6(CDK5RAP2):c.3148+200G>A	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673953	NM_018249.6(CDK5RAP2):c.3148+193G>A	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214699	NM_018249.6(CDK5RAP2):c.3148+183A>G	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233838	NM_018249.6(CDK5RAP2):c.3148+122G>T	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 21646	NM_018249.6(CDK5RAP2):c.3134G>C (p.Arg1045Thr)	CDK5RAP2 (R1045T +1 more)	Single nucleotide variant (missense variant +1 more)	Primary Microcephaly, Recessive +2 more	GBenign/Likely benign
Select item 21645	NM_018249.6(CDK5RAP2):c.3065G>A (p.Gly1022Glu)	CDK5RAP2 (G1022E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1229874	NM_018249.6(CDK5RAP2):c.3025+312T>C	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 764960	NM_018249.6(CDK5RAP2):c.3015G>A (p.Thr1005=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 434645	NM_018249.6(CDK5RAP2):c.2826A>T (p.Ile942=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1186046	NM_018249.6(CDK5RAP2):c.2793+299A>T	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219571	NM_018249.6(CDK5RAP2):c.2793+35T>C	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 364762	NM_018249.6(CDK5RAP2):c.2655C>G (p.Phe885Leu)	CDK5RAP2 (F885L)	Single nucleotide variant (missense variant +2 more)	Primary Microcephaly, Recessive +3 more	GConflicting classifications of pathogenicity
Select item 422547	NM_018249.6(CDK5RAP2):c.2641G>A (p.Asp881Asn)	CDK5RAP2 (D881N)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1049180	NM_018249.6(CDK5RAP2):c.2636A>G (p.Glu879Gly)	CDK5RAP2 (E879G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 364765	NM_018249.6(CDK5RAP2):c.2568G>A (p.Gln856=)	CDK5RAP2	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 432919	NM_018249.6(CDK5RAP2):c.2482A>G (p.Lys828Glu)	CDK5RAP2 (K828E)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1210899	NM_018249.6(CDK5RAP2):c.2376-218C>T	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195518	NM_018249.6(CDK5RAP2):c.2376-228T>C	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192011	NM_018249.6(CDK5RAP2):c.2375+308G>A	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 158134	NM_018249.6(CDK5RAP2):c.2294C>G (p.Pro765Arg)	CDK5RAP2 (P765R)	Single nucleotide variant (missense variant +2 more)	Microcephaly 3, primary, autosomal recessive +2 more	GBenign/Likely benign
Select item 158133	NM_018249.6(CDK5RAP2):c.2289C>T (p.His763=)	CDK5RAP2	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GBenign/Likely benign

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