"Blueprint Genetics"[submitter] AND "CACNA1F"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 867124	NM_001256789.3(CACNA1F):c.5230C>T (p.Arg1744Trp)	CACNA1F (R1690W +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866505	NM_001256789.3(CACNA1F):c.4561C>G (p.Arg1521Gly)	CACNA1F, LOC126863257 (R1467G +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 866413	NM_001256789.3(CACNA1F):c.4490T>C (p.Leu1497Pro)	CACNA1F, LOC126863257 (L1443P +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GLikely pathogenic
Select item 866502	NM_001256789.3(CACNA1F):c.4161T>G (p.Cys1387Trp)	CACNA1F (C1387W +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 865984	NM_001256789.3(CACNA1F):c.4021G>A (p.Val1341Met)	CACNA1F (V1352M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 866485	NM_001256789.3(CACNA1F):c.4008+8_4008+13del	CACNA1F	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 866077	NM_001256789.3(CACNA1F):c.4008+1G>A	CACNA1F	Single nucleotide variant (splice donor variant)	Retinal dystrophy	GLikely pathogenic
Select item 853468	NM_001256789.3(CACNA1F):c.3862C>T (p.Arg1288Ter)	CACNA1F (R1288* +2 more)	Single nucleotide variant (nonsense)	Retinal dystrophy +1 more	GPathogenic
Select item 866372	NM_001256789.3(CACNA1F):c.3808G>C (p.Gly1270Arg)	CACNA1F (G1216R +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 866152	NM_001256789.3(CACNA1F):c.3406G>T (p.Glu1136Ter)	CACNA1F (E1082* +2 more)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 867055	NM_001256789.3(CACNA1F):c.3153G>A (p.Trp1051Ter)	CACNA1F (W1051* +2 more)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 866571	NM_001256789.3(CACNA1F):c.2881C>T (p.Arg961Ter)	CACNA1F (R961* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely 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 287248	NM_001256789.3(CACNA1F):c.2776C>T (p.Arg926Cys)	CACNA1F (R937C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 866896	NM_001256789.3(CACNA1F):c.2544-2A>T	CACNA1F	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy	GLikely pathogenic
Select item 497205	NM_001256789.3(CACNA1F):c.1504C>T (p.Arg502Ter)	CACNA1F (R513* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 866544	NM_001256789.3(CACNA1F):c.1369+15A>G	CACNA1F	Single nucleotide variant (intron variant)	Retinal dystrophy	GUncertain significance
Select item 866521	NM_001256789.3(CACNA1F):c.1183C>T (p.Gln395Ter)	CACNA1F (Q330* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 867174	NM_001256789.3(CACNA1F):c.1159dup (p.Asp387fs)	CACNA1F (D322fs +1 more)	Duplication (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 866093	NM_001256789.3(CACNA1F):c.593G>C (p.Gly198Ala)	CACNA1F (G133A +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 195237	NM_001256789.3(CACNA1F):c.244C>T (p.Arg82Ter)	CACNA1F (R82*)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy +1 more	GPathogenic

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Items: 21