ClinVar for MedGen (Select 163197) - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3584290	NM_152515.5(CKAP2L):c.100A>C (p.Thr34Pro)	CKAP2L (T34P)	Single nucleotide variant (5 prime UTR variant +2 more)	Filippi syndrome	GUncertain significance
Select item 3065887	NM_152515.5(CKAP2L):c.1604G>A (p.Gly535Asp)	CKAP2L (G370D +1 more)	Single nucleotide variant (missense variant +1 more)	Filippi syndrome	GLikely pathogenic
Select item 2691463	NM_152515.5(CKAP2L):c.1046_1053dup (p.Lys352fs)	CKAP2L (K187fs +1 more)	Duplication (frameshift variant)	Filippi syndrome	GPathogenic
Select item 2572498	NM_152515.5(CKAP2L):c.1004_1029dup (p.Tyr344fs)	CKAP2L (Y179fs +1 more)	Duplication (frameshift variant)	Filippi syndrome	GPathogenic
Select item 2440093	NM_152515.5(CKAP2L):c.1283A>G (p.Gln428Arg)	CKAP2L (Q263R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2440092	NM_152515.5(CKAP2L):c.1024G>A (p.Gly342Ser)	CKAP2L (G177S +1 more)	Single nucleotide variant (missense variant)	Filippi syndrome	GUncertain significance
Select item 2184979	NM_152515.5(CKAP2L):c.1186A>G (p.Ile396Val)	CKAP2L (I396V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1392044	NM_152515.5(CKAP2L):c.1040G>A (p.Arg347Lys)	CKAP2L (R347K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1324082	NM_152515.5(CKAP2L):c.501del (p.Asn167fs)	CKAP2L (N167fs +1 more)	Deletion (frameshift variant)	Filippi syndrome	GPathogenic/Likely pathogenic
Select item 1292042	NM_152515.5(CKAP2L):c.1169_1173del (p.Ile390fs)	CKAP2L (I225fs +1 more)	Deletion (frameshift variant)	Filippi syndrome	GPathogenic
Select item 1209748	NM_152515.5(CKAP2L):c.1123A>G (p.Ile375Val)	CKAP2L (I210V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1209747	NM_152515.5(CKAP2L):c.1841T>C (p.Leu614Ser)	CKAP2L, NT5DC4 (L449S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign
Select item 1040806	NM_152515.5(CKAP2L):c.2066G>A (p.Arg689His)	CKAP2L, NT5DC4 (R524H +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1034319	NM_152515.5(CKAP2L):c.199C>A (p.Pro67Thr)	CKAP2L (P67T)	Single nucleotide variant (missense variant +2 more)	Filippi syndrome	GUncertain significance
Select item 1030263	NM_152515.5(CKAP2L):c.1385A>T (p.Glu462Val)	CKAP2L (E297V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 984719	NM_152515.5(CKAP2L):c.1822+1G>A	CKAP2L, NT5DC4	Single nucleotide variant (3 prime UTR variant +1 more)	Filippi syndrome	GPathogenic
Select item 804387	NM_152515.5(CKAP2L):c.552_555del (p.Asn184fs)	CKAP2L (N184fs +1 more)	Microsatellite (frameshift variant)	Filippi syndrome	GLikely pathogenic
Select item 775178	NM_152515.5(CKAP2L):c.162T>G (p.Ile54Met)	CKAP2L (I54M)	Single nucleotide variant (missense variant +2 more)	Filippi syndrome +1 more	GConflicting classifications of pathogenicity
Select item 451430	NM_152515.5(CKAP2L):c.1092_1093del (p.Gln364fs)	CKAP2L (Q364fs +1 more)	Deletion (frameshift variant)	Filippi syndrome +1 more	GPathogenic/Likely pathogenic
Select item 451237	NM_152515.5(CKAP2L):c.1621A>G (p.Ile541Val)	CKAP2L (I541V +1 more)	Single nucleotide variant (missense variant +1 more)	Filippi syndrome +1 more	GUncertain significance
Select item 162389	NM_152515.5(CKAP2L):c.554_555del (p.Lys185fs)	CKAP2L (K185fs +1 more)	Deletion (frameshift variant)	Filippi syndrome	GPathogenic
Select item 162388	NM_001304361.2(CKAP2L):c.-280-59_-11del	CKAP2L	Deletion (splice acceptor variant)	Filippi syndrome	GPathogenic
Select item 162387	NM_152515.5(CKAP2L):c.751del (p.Ser251fs)	CKAP2L (S86fs +1 more)	Deletion (frameshift variant)	Filippi syndrome	GPathogenic
Select item 162386	NM_152515.5(CKAP2L):c.78_79insTT (p.Gly27fs)	CKAP2L (G27fs)	Insertion (5 prime UTR variant +2 more)	Filippi syndrome	GPathogenic
Select item 162385	NM_152515.5(CKAP2L):c.2T>C (p.Met1Thr)	CKAP2L (M1T)	Single nucleotide variant (5 prime UTR variant +3 more)	Filippi syndrome	GPathogenic
Select item 162384	NM_152515.5(CKAP2L):c.571dup (p.Ile191fs)	CKAP2L (I26fs +1 more)	Duplication (frameshift variant)	Filippi syndrome	GPathogenic

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Items: 26