C3810212[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1020179	NM_001382391.1(CSPP1):c.-128C>T	CSPP1 (A8V)	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 21	GUncertain significance
Select item 1020742	NM_001382391.1(CSPP1):c.303+3A>T	CSPP1	Single nucleotide variant (intron variant)	Joubert syndrome 21	GUncertain significance
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 1051168	NM_001382391.1(CSPP1):c.800G>A (p.Arg267His)	CSPP1 (R240H +3 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 21	GUncertain significance
Select item 384856	NM_001382391.1(CSPP1):c.1218G>C (p.Ala406=)	CSPP1	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1474378	NM_001382391.1(CSPP1):c.1372A>G (p.Thr458Ala)	CSPP1 (T431A +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21	GUncertain significance
Select item 1322166	NM_001382391.1(CSPP1):c.1822C>T (p.Gln608Ter)	CSPP1 (Q309* +7 more)	Single nucleotide variant (nonsense)	Joubert syndrome 21	GPathogenic
Select item 100666	NM_001382391.1(CSPP1):c.2335C>T (p.Arg779Ter)	CSPP1 (R774* +7 more)	Single nucleotide variant (nonsense)	Joubert syndrome 21	GPathogenic
Select item 1322168	NM_001382391.1(CSPP1):c.2538+1G>T	CSPP1	Single nucleotide variant (splice donor variant)	Joubert syndrome 21	GPathogenic
Select item 1324181	NM_001382391.1(CSPP1):c.2552del (p.Pro851fs)	CSPP1 (P501fs +7 more)	Deletion (frameshift variant)	Joubert syndrome 21	GLikely pathogenic
Select item 1023413	NM_001382391.1(CSPP1):c.2629C>T (p.Arg877Cys)	CSPP1 (R527C +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21	GUncertain significance
Select item 1015098	NM_001382391.1(CSPP1):c.2920G>A (p.Ala974Thr)	CSPP1 (A624T +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21	GUncertain significance
Select item 2440588	NM_001382391.1(CSPP1):c.3330+2T>C	ARFGEF1, CSPP1	Single nucleotide variant (splice donor variant +1 more)	Joubert syndrome 21	GConflicting classifications of pathogenicity
Select item 2440589	NM_001382391.1(CSPP1):c.3641G>A (p.Gly1214Asp)	ARFGEF1, CSPP1 (G1122D +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21	GUncertain significance