ClinVar for MedGen (Select 120643) - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3897718	NM_001256789.3(CACNA1F):c.1019_1025del	CACNA1F	Deletion (splice acceptor variant)	Aland island eye disease	GLikely pathogenic
Select item 3775414	NM_001256789.3(CACNA1F):c.3313TTC[1] (p.Phe1106del)	CACNA1F (F1052del +2 more)	Microsatellite (inframe_deletion)	Aland island eye disease	GUncertain significance
Select item 3370342	NM_001256789.3(CACNA1F):c.2969G>A (p.Gly990Glu)	CACNA1F (G1001E +2 more)	Single nucleotide variant (missense variant)	Aland island eye disease	GUncertain significance
Select item 2671737	NM_001256789.3(CACNA1F):c.4186_4187insCCCTA (p.Gly1396fs)	CACNA1F (G1342fs +2 more)	Insertion (frameshift variant)	Aland island eye disease	GLikely pathogenic
Select item 2582767	NM_001256789.3(CACNA1F):c.3708+2T>C	CACNA1F	Single nucleotide variant (splice donor variant)	Aland island eye disease	GLikely pathogenic
Select item 1509434	NM_001256789.3(CACNA1F):c.4862G>C (p.Arg1621Pro)	CACNA1F, LOC126863257 (R1567P +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1347248	NM_001256789.3(CACNA1F):c.5504G>A (p.Arg1835Gln)	CACNA1F (R1781Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1333936	NM_001256789.3(CACNA1F):c.4190_4191del (p.Glu1397fs)	CACNA1F (E1343fs +2 more)	Deletion (frameshift variant)	Aland island eye disease	GLikely pathogenic
Select item 1192564	NM_001256789.3(CACNA1F):c.2334+123G>C	CACNA1F	Single nucleotide variant (intron variant)	Aland island eye disease +3 more	GBenign/Likely benign
Select item 1192563	NM_001256789.3(CACNA1F):c.2928+5C>T	CACNA1F	Single nucleotide variant (intron variant)	Aland island eye disease +2 more	GBenign
Select item 1192562	NM_001256789.3(CACNA1F):c.3037-30G>A	CACNA1F	Single nucleotide variant (intron variant)	Aland island eye disease +2 more	GBenign
Select item 1172621	NM_000292.3(PHKA2):c.3295_3296dup (p.Ile1100fs)	PHKA2 (I1100fs)	Microsatellite (frameshift variant)	Aland island eye disease	GPathogenic
Select item 1031513	NM_001256789.3(CACNA1F):c.4260+2del	CACNA1F	Deletion (splice donor variant)	Aland island eye disease +1 more	GPathogenic
Select item 988786	NM_001256789.3(CACNA1F):c.245G>A (p.Arg82Gln)	CACNA1F (R82Q)	Single nucleotide variant (missense variant +1 more)	Aland island eye disease +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 +2 more	GConflicting classifications of pathogenicity
Select item 636157	NM_001256789.3(CACNA1F):c.4363T>C (p.Trp1455Arg)	CACNA1F (W1466R +2 more)	Single nucleotide variant (missense variant)	Aland island eye disease	GUncertain significance
Select item 636004	NM_145200.5(CABP4):c.773A>T (p.Asn258Ile)	CABP4 (N258I +1 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 598318	NM_015404.4(WHRN):c.1850C>T (p.Ser617Leu)	WHRN (S617L +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 587564	NM_001256789.3(CACNA1F):c.1108G>A (p.Val370Ile)	CACNA1F (V370I +1 more)	Single nucleotide variant (missense variant)	X-linked cone-rod dystrophy 3 +4 more	GUncertain significance
Select item 445846	NM_001256789.3(CACNA1F):c.3439-18C>T	CACNA1F	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 425497	NM_001256789.3(CACNA1F):c.3236+1G>A	CACNA1F	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 285396	NM_001256789.3(CACNA1F):c.2543+1G>A	CACNA1F	Single nucleotide variant (splice donor variant)	X-linked cone-rod dystrophy 3 +3 more	GPathogenic
Select item 283388	NM_001256789.3(CACNA1F):c.2204A>C (p.Asn735Thr)	CACNA1F (N746T +2 more)	Single nucleotide variant (missense variant)	X-linked cone-rod dystrophy 3 +4 more	GLikely benign
Select item 265464	NM_001256789.3(CACNA1F):c.1840C>T (p.Arg614Ter)	CACNA1F (R625* +2 more)	Single nucleotide variant (nonsense)	Congenital stationary night blindness 2A +2 more	GPathogenic
Select item 208890	NM_001256789.3(CACNA1F):c.1535G>A (p.Arg512His)	CACNA1F (R523H +2 more)	Single nucleotide variant (missense variant)	Aland island eye disease +3 more	GBenign/Likely benign
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
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 11621	NM_001256789.3(CACNA1F):c.3598-133_3709-76del	CACNA1F	Deletion (splice acceptor variant +1 more)	Aland island eye disease	GPathogenic

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Items: 28