ClinVar for MedGen (Select 376299) - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2445678	NM_001256789.3(CACNA1F):c.1044del (p.Trp349fs)	CACNA1F (W284fs +1 more)	Deletion (frameshift variant)	Congenital stationary night blindness 2A	GPathogenic
Select item 1803173	NM_001256789.3(CACNA1F):c.3458C>A (p.Ala1153Asp)	CACNA1F (A1099D +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 2A	GUncertain significance
Select item 1710119	NM_001256789.3(CACNA1F):c.149_156del (p.Arg50fs)	CACNA1F (R50fs)	Deletion (frameshift variant +1 more)	Congenital stationary night blindness 2A	GLikely pathogenic
Select item 1710117	NM_001256789.3(CACNA1F):c.465_466insGT (p.Ser156fs)	CACNA1F (S156fs +1 more)	Insertion (frameshift variant)	Congenital stationary night blindness 2A	GLikely pathogenic
Select item 1710116	NM_001256789.3(CACNA1F):c.1234dup (p.Glu412fs)	CACNA1F (E347fs +1 more)	Duplication (frameshift variant)	Congenital stationary night blindness 2A	GLikely pathogenic
Select item 1710115	NM_001256789.3(CACNA1F):c.2007del (p.Lys670fs)	CACNA1F (K616fs +2 more)	Deletion (frameshift variant)	Congenital stationary night blindness 2A	GLikely pathogenic
Select item 1710114	NM_001256789.3(CACNA1F):c.4827del (p.Leu1610fs)	CACNA1F, LOC126863257 (L1556fs +2 more)	Deletion (frameshift variant)	Congenital stationary night blindness 2A	GLikely pathogenic
Select item 1709582	NM_001256789.3(CACNA1F):c.3481del (p.Arg1161fs)	CACNA1F (R1107fs +2 more)	Deletion (frameshift variant)	Congenital stationary night blindness 2A	GLikely pathogenic
Select item 1526288	NM_001256789.3(CACNA1F):c.4054AAC[2] (p.Asn1354del)	CACNA1F (N1300del +2 more)	Microsatellite (inframe_deletion)	Congenital stationary night blindness 2A	GUncertain significance
Select item 1526287	NM_001256789.3(CACNA1F):c.1579_1599del (p.Leu527_Leu533del)	CACNA1F	Deletion (inframe_deletion)	Congenital stationary night blindness 2A	GUncertain significance
Select item 1192564	NM_001256789.3(CACNA1F):c.2334+123G>C	CACNA1F	Single nucleotide variant (intron variant)	Ocular albinism, type II +2 more	GBenign
Select item 1192563	NM_001256789.3(CACNA1F):c.2928+5C>T	CACNA1F	Single nucleotide variant (intron variant)	Ocular albinism, type II +2 more	GBenign
Select item 1192562	NM_001256789.3(CACNA1F):c.3037-30G>A	CACNA1F	Single nucleotide variant (intron variant)	X-linked cone-rod dystrophy 3 +2 more	GBenign
Select item 1074712	NM_001256789.3(CACNA1F):c.3019G>A (p.Gly1007Arg)	CACNA1F (G1007R +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 2A +1 more	GPathogenic/Likely pathogenic
Select item 1009129	NM_001256789.3(CACNA1F):c.4886A>C (p.Glu1629Ala)	CACNA1F, LOC126863257 (E1575A +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 2A +1 more	GUncertain significance
Select item 988791	NM_001256789.3(CACNA1F):c.818-820del	CACNA1F	Deletion (intron variant)	Congenital stationary night blindness 2A	GLikely pathogenic
Select item 988790	NM_001256789.3(CACNA1F):c.5446C>T (p.Arg1816Ter)	CACNA1F (R1762* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 988789	NM_001256789.3(CACNA1F):c.3182T>A (p.Val1061Asp)	CACNA1F (V1007D +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 2A	GLikely pathogenic
Select item 988788	NM_001256789.3(CACNA1F):c.1982T>G (p.Leu661Arg)	CACNA1F (L607R +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 2A	GLikely pathogenic
Select item 988787	NM_001256789.3(CACNA1F):c.1723del (p.Ser575fs)	CACNA1F (S521fs +2 more)	Deletion (frameshift variant)	Congenital stationary night blindness 2A	GPathogenic
Select item 988786	NM_001256789.3(CACNA1F):c.245G>A (p.Arg82Gln)	CACNA1F (R82Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 982693	NM_001256789.3(CACNA1F):c.1686G>A (p.Thr562=)	CACNA1F	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 2A	GUncertain significance
Select item 958540	NM_001256789.3(CACNA1F):c.5863G>A (p.Asp1955Asn)	CACNA1F (D1901N +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 2A +1 more	GUncertain significance
Select item 931151	NM_001256789.3(CACNA1F):c.2624T>A (p.Val875Glu)	CACNA1F (V875E +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 2A	GUncertain significance
Select item 930750	NM_001256789.3(CACNA1F):c.1936G>A (p.Ala646Thr)	CACNA1F (A646T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 866505	NM_001256789.3(CACNA1F):c.4561C>G (p.Arg1521Gly)	CACNA1F, LOC126863257 (R1467G +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 812250	NM_001256789.3(CACNA1F):c.1276+34G>A	CACNA1F	Single nucleotide variant (intron variant +1 more)	Congenital stationary night blindness 2A	GPathogenic
Select item 812246	NM_001256789.3(CACNA1F):c.3921G>A (p.Trp1307Ter)	CACNA1F (W1318* +2 more)	Single nucleotide variant (nonsense)	Congenital stationary night blindness +1 more	GPathogenic
Select item 587564	NM_001256789.3(CACNA1F):c.1108G>A (p.Val370Ile)	CACNA1F (V370I +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 587382	NM_001256789.3(CACNA1F):c.4471C>T (p.Arg1491Ter)	CACNA1F (R1502* +2 more)	Single nucleotide variant (nonsense)	Congenital stationary night blindness 2A +1 more	GPathogenic
Select item 445846	NM_001256789.3(CACNA1F):c.3439-18C>T	CACNA1F	Single nucleotide variant (intron variant)	Congenital stationary night blindness 2A +3 more	GBenign/Likely benign
Select item 430654	NM_001256789.3(CACNA1F):c.1933A>T (p.Ile645Phe)	CACNA1F (I656F +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 2A +1 more	GUncertain significance
Select item 402468	NM_001256789.3(CACNA1F):c.1523G>A (p.Arg508Gln)	CACNA1F (R519Q +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 374004	NM_001256789.3(CACNA1F):c.694A>T (p.Lys232Ter)	CACNA1F (K232* +1 more)	Single nucleotide variant (nonsense)	Congenital stationary night blindness 2A	GPathogenic
Select item 285396	NM_001256789.3(CACNA1F):c.2543+1G>A	CACNA1F	Single nucleotide variant (splice donor variant)	not provided +4 more	GPathogenic
Select item 283388	NM_001256789.3(CACNA1F):c.2204A>C (p.Asn735Thr)	CACNA1F (N746T +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 2A +5 more	GLikely benign
Select item 265465	NM_001256789.3(CACNA1F):c.148C>T (p.Arg50Ter)	CACNA1F (R50*)	Single nucleotide variant (nonsense +1 more)	Congenital stationary night blindness 2A +1 more	GPathogenic
Select item 265464	NM_001256789.3(CACNA1F):c.1840C>T (p.Arg614Ter)	CACNA1F (R625* +2 more)	Single nucleotide variant (nonsense)	X-linked cone-rod dystrophy 3 +2 more	GPathogenic
Select item 259657	NM_001256789.3(CACNA1F):c.1870G>A (p.Val624Ile)	CACNA1F (V635I +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 208890	NM_001256789.3(CACNA1F):c.1535G>A (p.Arg512His)	CACNA1F (R523H +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 166778	NM_001256789.3(CACNA1F):c.2673+3G>A	CACNA1F	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 21443	NM_001256789.3(CACNA1F):c.3133dup (p.Leu1045fs)	CACNA1F (L1056fs +2 more)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 11618	NM_001256789.3(CACNA1F):c.4548del (p.Phe1517fs)	CACNA1F, LOC126863257 (F1463fs +2 more)	Deletion (frameshift variant)	Congenital stationary night blindness 2A	GPathogenic
Select item 11617	NM_001256789.3(CACNA1F):c.2650C>T (p.Arg884Ter)	CACNA1F (R830* +2 more)	Single nucleotide variant (nonsense)	Congenital stationary night blindness +2 more	GPathogenic
Select item 11615	NM_001256789.3(CACNA1F):c.2872C>T (p.Arg958Ter)	CACNA1F (R958* +2 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 11614	NM_001256789.3(CACNA1F):c.1106G>A (p.Gly369Asp)	CACNA1F (G369D +1 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 2A	GPathogenic

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Items: 47