"Eurofins Ntd Llc (ga)"[submitter] AND "CACNA1F"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 282023	NM_001256789.3(CACNA1F):c.5829C>T (p.Asp1943=)	CACNA1F	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 197594	NM_001256789.3(CACNA1F):c.5827G>A (p.Asp1943Asn)	CACNA1F (D1954N +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 197595	NM_001256789.3(CACNA1F):c.5700T>C (p.Phe1900=)	CACNA1F	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 281511	NM_001256789.3(CACNA1F):c.5577C>T (p.Gly1859=)	CACNA1F	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 166775	NM_001256789.3(CACNA1F):c.5253G>C (p.Gln1751His)	CACNA1F (Q1762H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 290833	NM_001256789.3(CACNA1F):c.5154C>A (p.Ile1718=)	CACNA1F	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 166776	NM_001256789.3(CACNA1F):c.5017G>T (p.Gly1673Trp)	CACNA1F (G1684W +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 287841	NM_001256789.3(CACNA1F):c.4180G>A (p.Gly1394Ser)	CACNA1F (G1405S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 166777	NM_001256789.3(CACNA1F):c.3930C>A (p.Ile1310=)	CACNA1F	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 594791	NM_001256789.3(CACNA1F):c.3651C>T (p.Val1217=)	CACNA1F	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 290892	NM_001256789.3(CACNA1F):c.3263A>G (p.Tyr1088Cys)	CACNA1F (Y1099C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 287334	NM_001256789.3(CACNA1F):c.2764G>A (p.Gly922Ser)	CACNA1F (G933S +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 166778	NM_001256789.3(CACNA1F):c.2673+3G>A	CACNA1F	Single nucleotide variant (intron variant)	X-linked cone-rod dystrophy 3 +4 more	GBenign/Likely benign
Select item 285396	NM_001256789.3(CACNA1F):c.2543+1G>A	CACNA1F	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic
Select item 596481	NM_001256789.3(CACNA1F):c.2461C>T (p.Leu821Phe)	CACNA1F (L832F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 288897	NM_001256789.3(CACNA1F):c.2415AGAGGAAGA[4] (p.Glu812_Glu814dup)	CACNA1F	Microsatellite (inframe_insertion)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 593126	NM_001256789.3(CACNA1F):c.2415AGAGGAAGA[2] (p.Glu812_Glu814del)	CACNA1F	Microsatellite (inframe_deletion)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 166779	NM_001256789.3(CACNA1F):c.2391GGA[8] (p.Glu814dup)	CACNA1F	Microsatellite (inframe_insertion)	not provided	GBenign
Select item 195497	NM_001256789.3(CACNA1F):c.2387-19del	CACNA1F	Deletion (intron variant)	not provided	GConflicting classifications of pathogenicity
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 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 402468	NM_001256789.3(CACNA1F):c.1523G>A (p.Arg508Gln)	CACNA1F (R519Q +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
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 197774	NM_001256789.3(CACNA1F):c.571C>G (p.Pro191Ala)	CACNA1F (P191A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 195238	NM_001256789.3(CACNA1F):c.272G>T (p.Trp91Leu)	CACNA1F (W91L +1 more)	Single nucleotide variant (missense variant)	not provided	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
Select item 595852	NM_001256789.3(CACNA1F):c.85T>G (p.Cys29Gly)	CACNA1F (C29G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 166780	NM_001256789.3(CACNA1F):c.41C>T (p.Pro14Leu)	CACNA1F (P14L)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign

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Items: 30