CDK5RAP2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC126860768, LOC126860769 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC124310660, LOC124310661 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC111413024, LOC111413033 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC116216098, LOC116216099 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LCN15, LCN2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC126860765, LOC126860766 +3785 more	Copy number gain	See cases	GPathogenic
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 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 364741	NM_018249.6(CDK5RAP2):c.*264G>A	CDK5RAP2	Single nucleotide variant (3 prime UTR variant +1 more)	Microcephaly 3, primary, autosomal recessive	GBenign
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 364742	NM_018249.6(CDK5RAP2):c.*47C>T	CDK5RAP2	Single nucleotide variant (3 prime UTR variant +1 more)	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 364743	NM_018249.6(CDK5RAP2):c.5649A>G (p.Pro1883=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	CDK5RAP2-related condition +3 more	GConflicting classifications of pathogenicity
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 210639	NM_018249.6(CDK5RAP2):c.5641G>C (p.Ala1881Pro)	CDK5RAP2 (A1881P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 2803304	NM_018249.6(CDK5RAP2):c.5626-5C>T	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1922779	NM_018249.6(CDK5RAP2):c.5626-18T>C	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2975508	NM_018249.6(CDK5RAP2):c.5622G>A (p.Leu1874=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2054822	NM_018249.6(CDK5RAP2):c.5603G>T (p.Arg1868Leu)	CDK5RAP2 (R1638L +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 2018368	NM_018249.6(CDK5RAP2):c.5579-15T>G	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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)	Microcephaly 3, primary, autosomal recessive +1 more	GBenign
Select item 158167	NM_018249.6(CDK5RAP2):c.5578T>C (p.Leu1860=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	CDK5RAP2-related condition +4 more	GBenign/Likely benign
Select item 2878729	NM_018249.6(CDK5RAP2):c.5566A>G (p.Ile1856Val)	CDK5RAP2 (I1824V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2965450	NM_018249.6(CDK5RAP2):c.5553C>T (p.Arg1851=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2027409	NM_018249.6(CDK5RAP2):c.5526C>T (p.Thr1842=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 1716821	NM_018249.6(CDK5RAP2):c.5513A>C (p.Lys1838Thr)	CDK5RAP2 (K1608T +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 364744	NM_018249.6(CDK5RAP2):c.5499T>G (p.Phe1833Leu)	CDK5RAP2 (F1833L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +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)	Primary Microcephaly, Recessive +2 more	GConflicting classifications of pathogenicity
Select item 2058943	NM_018249.6(CDK5RAP2):c.5452-30_5452-3del	CDK5RAP2	Deletion (intron variant)	not provided	GUncertain significance
Select item 739194	NM_018249.6(CDK5RAP2):c.5452-7T>C	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1973788	NM_018249.6(CDK5RAP2):c.5452-8C>T	CDK5RAP2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2984366	NM_018249.6(CDK5RAP2):c.5452-11C>T	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680089	NM_018249.6(CDK5RAP2):c.5451+225C>T	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 158163	NM_018249.6(CDK5RAP2):c.5448G>A (p.Glu1816=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2787578	NM_018249.6(CDK5RAP2):c.5436C>T (p.Pro1812=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 158162	NM_018249.6(CDK5RAP2):c.5418C>T (p.Pro1806=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	Primary Microcephaly, Recessive +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 716664	NM_018249.6(CDK5RAP2):c.5412A>C (p.Ser1804=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 755259	NM_018249.6(CDK5RAP2):c.5388G>C (p.Arg1796=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2999912	NM_018249.6(CDK5RAP2):c.5364G>A (p.Leu1788=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 364745	NM_018249.6(CDK5RAP2):c.5362C>A (p.Leu1788Met)	CDK5RAP2 (L1788M +2 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 3, primary, autosomal recessive +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 364746	NM_018249.6(CDK5RAP2):c.5355G>A (p.Thr1785=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	Primary Microcephaly, Recessive +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 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 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 517801	NM_018249.6(CDK5RAP2):c.5313A>G (p.Pro1771=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	not specified	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 1695262	NM_018249.6(CDK5RAP2):c.5308-6G>A	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2958645	NM_018249.6(CDK5RAP2):c.5308-11C>T	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GBenign
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 2710066	NM_018249.6(CDK5RAP2):c.5307+6C>T	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 739222	NM_018249.6(CDK5RAP2):c.5295G>C (p.Glu1765Asp)	CDK5RAP2 (E1765D +2 more)	Single nucleotide variant (missense variant +1 more)	CDK5RAP2-related condition +1 more	GLikely benign
Select item 1903698	NM_018249.6(CDK5RAP2):c.5257A>G (p.Ile1753Val)	CDK5RAP2 (I1674V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 364747	NM_018249.6(CDK5RAP2):c.5241C>T (p.Leu1747=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	CDK5RAP2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 364748	NM_018249.6(CDK5RAP2):c.5235G>C (p.Gln1745His)	CDK5RAP2 (Q1745H +2 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 3, primary, autosomal recessive	GUncertain significance
Select item 158157	NM_018249.6(CDK5RAP2):c.5227C>T (p.Gln1743Ter)	CDK5RAP2 (Q1743* +2 more)	Single nucleotide variant (nonsense +1 more)	Microcephaly 3, primary, autosomal recessive	GPathogenic
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 2439881	NM_018249.6(CDK5RAP2):c.5212C>G (p.Leu1738Val)	CDK5RAP2 (L1508V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 364749	NM_018249.6(CDK5RAP2):c.5201A>G (p.Tyr1734Cys)	CDK5RAP2 (Y1734C +2 more)	Single nucleotide variant (missense variant +1 more)	CDK5RAP2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 2888422	NM_018249.6(CDK5RAP2):c.5177A>G (p.His1726Arg)	CDK5RAP2 (H1694R +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2855269	NM_018249.6(CDK5RAP2):c.5174G>T (p.Arg1725Leu)	CDK5RAP2 (R1495L +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 364750	NM_018249.6(CDK5RAP2):c.5167A>G (p.Asn1723Asp)	CDK5RAP2 (N1723D +2 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 3, primary, autosomal recessive	GUncertain significance
Select item 1012839	NM_018249.6(CDK5RAP2):c.5157G>A (p.Trp1719Ter)	CDK5RAP2 (W1489* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
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 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 2131302	NM_018249.6(CDK5RAP2):c.5143G>A (p.Gly1715Ser)	CDK5RAP2 (G1636S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 2072169	NM_018249.6(CDK5RAP2):c.5131C>T (p.Arg1711Cys)	CDK5RAP2 (R1710C +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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

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