C1858108[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2081332	NM_018249.6(CDK5RAP2):c.5075C>T (p.Thr1692Met)	CDK5RAP2 (T1659M +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 210638	NM_018249.6(CDK5RAP2):c.4730C>T (p.Ala1577Val)	CDK5RAP2 (A1577V +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Primary Microcephaly, Recessive +3 more	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 210637	NM_018249.6(CDK5RAP2):c.4207C>T (p.Arg1403Ter)	CDK5RAP2 (R1403* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Microcephaly 3, primary, autosomal recessive	GPathogenic/Likely pathogenic
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 2439877	NM_018249.6(CDK5RAP2):c.3564G>A (p.Pro1188=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 209966	NM_018249.6(CDK5RAP2):c.3097del (p.Val1033fs)	CDK5RAP2 (V1033fs +1 more)	Deletion (frameshift variant +1 more)	Microcephaly 3, primary, autosomal recessive +2 more	GPathogenic
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 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 158170	NM_018249.6(CDK5RAP2):c.749C>T (p.Pro250Leu)	CDK5RAP2 (P250L)	Single nucleotide variant (missense variant +1 more)	Microcephaly 3, primary, autosomal recessive +1 more	GConflicting classifications of pathogenicity
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 1322053	NM_018249.6(CDK5RAP2):c.355G>T (p.Glu119Ter)	CDK5RAP2 (E119*)	Single nucleotide variant (nonsense +1 more)	Microcephaly 3, primary, autosomal recessive	GPathogenic