"NIHR Bioresource Rare Diseases, University of Cambridge"[submitter] A - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 438127	NM_001256789.3(CACNA1F):c.4439C>T (p.Pro1480Leu)	CACNA1F (P1491L +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness	GLikely pathogenic
Select item 438126	NM_001256789.3(CACNA1F):c.3853C>T (p.Arg1285Cys)	CACNA1F (R1296C +2 more)	Single nucleotide variant (missense variant)	Progressive cone dystrophy (without rod involvement) +1 more	GPathogenic/Likely pathogenic
Select item 438125	NM_001256789.3(CACNA1F):c.3595C>T (p.Gln1199Ter)	CACNA1F (Q1210* +2 more)	Single nucleotide variant (nonsense)	Abnormality of the eye	GLikely pathogenic
Select item 438124	NM_001256789.3(CACNA1F):c.3308_3309del (p.Ser1103fs)	CACNA1F (S1114fs +2 more)	Deletion (frameshift variant)	Congenital stationary night blindness	GLikely pathogenic
Select item 438123	NM_001256789.3(CACNA1F):c.3180T>G (p.Asn1060Lys)	CACNA1F (N1071K +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness	GLikely pathogenic
Select item 11615	NM_001256789.3(CACNA1F):c.2872C>T (p.Arg958Ter)	CACNA1F (R958* +2 more)	Single nucleotide variant (nonsense)	Retinal dystrophy +2 more	GPathogenic
Select item 438122	NM_001256789.3(CACNA1F):c.2733+1G>A	CACNA1F	Single nucleotide variant (splice donor variant)	Congenital stationary night blindness	GLikely pathogenic
Select item 438121	NM_001256789.3(CACNA1F):c.1505_1509del (p.Arg502fs)	CACNA1F (R448fs +2 more)	Deletion (frameshift variant)	Congenital stationary night blindness	GLikely pathogenic
Select item 438120	NM_001256789.3(CACNA1F):c.1433_1463+7del	CACNA1F	Deletion (splice donor variant)	Congenital stationary night blindness	GLikely pathogenic
Select item 438119	NM_001256789.3(CACNA1F):c.1305_1306insT (p.Arg436Ter)	CACNA1F (R447* +2 more)	Insertion (nonsense)	Congenital stationary night blindness	GLikely pathogenic
Select item 438118	NM_001256789.3(CACNA1F):c.1218del (p.Trp407fs)	CACNA1F (W407fs +1 more)	Deletion (frameshift variant)	Congenital stationary night blindness	GPathogenic
Select item 438129	NM_001256789.3(CACNA1F):c.946TTC[2] (p.Phe318del)	CACNA1F (F318del +1 more)	Microsatellite (inframe_deletion)	not provided	GPathogenic/Likely pathogenic
Select item 438128	NM_001256789.3(CACNA1F):c.784C>T (p.Arg262Ter)	CACNA1F (R262* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic