C3810212[trait identifier] AND "UW Hindbrain Malformation Research Pro - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 100673	NM_001382391.1(CSPP1):c.255_256del (p.His85fs)	CSPP1 (H85fs +1 more)	Deletion (5 prime UTR variant +1 more)	Joubert syndrome 21	GPathogenic
Select item 217644	NM_001382391.1(CSPP1):c.430del (p.Arg144fs)	CSPP1 (R153fs +3 more)	Deletion (5 prime UTR variant +1 more)	Joubert syndrome 21	GPathogenic
Select item 100672	NM_001382391.1(CSPP1):c.631C>T (p.Arg211Ter)	CSPP1 (R220* +3 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 21	GPathogenic
Select item 217649	NM_001382391.1(CSPP1):c.923+1G>C	CSPP1	Single nucleotide variant (splice donor variant)	Joubert syndrome 21 +1 more	GPathogenic
Select item 217646	NM_001382391.1(CSPP1):c.1105C>T (p.Arg369Ter)	CSPP1 (R378* +5 more)	Single nucleotide variant (nonsense)	Joubert syndrome 21 +1 more	GPathogenic/Likely pathogenic
Select item 217647	NM_001382391.1(CSPP1):c.1697+1G>T	CSPP1	Single nucleotide variant (splice donor variant)	Joubert syndrome 21	GPathogenic
Select item 100667	NM_001382391.1(CSPP1):c.2259_2260del (p.Glu755fs)	CSPP1 (E717fs +7 more)	Deletion (frameshift variant)	Joubert syndrome 21 +1 more	GPathogenic
Select item 217648	NM_001382391.1(CSPP1):c.2275C>T (p.Arg759Ter)	CSPP1 (R754* +7 more)	Single nucleotide variant (nonsense)	Joubert syndrome 21	GPathogenic
Select item 100668	NM_001382391.1(CSPP1):c.2295del (p.Glu766fs)	CSPP1 (E674fs +7 more)	Deletion (frameshift variant)	Joubert syndrome 21	GPathogenic
Select item 217650	NM_001382391.1(CSPP1):c.2456_2459del (p.Lys819fs)	CSPP1 (K814fs +7 more)	Microsatellite (frameshift variant)	Joubert syndrome 21	GPathogenic
Select item 217643	NM_001382391.1(CSPP1):c.2463_2469dup (p.Glu824fs)	CSPP1 (E797fs +7 more)	Microsatellite (frameshift variant)	Joubert syndrome 21	GPathogenic
Select item 217651	NM_001382391.1(CSPP1):c.2463_2469del (p.Glu822fs)	CSPP1 (E757fs +7 more)	Microsatellite (frameshift variant)	Joubert syndrome 21	GPathogenic
Select item 100671	NM_001382391.1(CSPP1):c.2542_2543del (p.Met848fs)	CSPP1 (M810fs +7 more)	Deletion (frameshift variant)	Joubert syndrome 21	GPathogenic
Select item 217642	NM_001382391.1(CSPP1):c.2723del (p.Asn908fs)	CSPP1 (N843fs +7 more)	Deletion (frameshift variant)	CSPP1-related condition +2 more	GPathogenic
Select item 100670	NM_001382391.1(CSPP1):c.2968+1G>A	CSPP1	Single nucleotide variant (splice donor variant)	Joubert syndrome 21	GPathogenic
Select item 217645	NM_001382391.1(CSPP1):c.3220+1G>A	ARFGEF1, CSPP1	Single nucleotide variant (splice donor variant +1 more)	Joubert syndrome 21	GPathogenic
Select item 100669	NM_001382391.1(CSPP1):c.3227dup (p.Tyr1076Ter)	ARFGEF1, CSPP1 (Y1038* +7 more)	Duplication (nonsense)	Joubert syndrome 21	GPathogenic