ClinVar for MedGen (Select 120643) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2671737	NM_001256789.3(CACNA1F):c.4186_4187insCCCTA (p.Gly1396fs)	CACNA1F (G1342fs +2 more)	Insertion (frameshift variant)	Ocular albinism, type II	GLikely pathogenic
Select item 2582767	NM_001256789.3(CACNA1F):c.3708+2T>C	CACNA1F	Single nucleotide variant (splice donor variant)	Ocular albinism, type II	GLikely pathogenic
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)	Ocular albinism, type II	GLikely pathogenic
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 1172621	NM_000292.3(PHKA2):c.3295_3296dup (p.Ile1100fs)	PHKA2 (I1100fs)	Microsatellite (frameshift variant)	Ocular albinism, type II	GPathogenic
Select item 1031513	NM_001256789.3(CACNA1F):c.4260+2del	CACNA1F	Deletion (splice donor variant)	Ocular albinism, type II +1 more	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 636157	NM_001256789.3(CACNA1F):c.4363T>C (p.Trp1455Arg)	CACNA1F (W1466R +2 more)	Single nucleotide variant (missense variant)	Ocular albinism, type II	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)	Ocular albinism, type II +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 provided +1 more	GUncertain significance
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 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 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)	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 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 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 195237	NM_001256789.3(CACNA1F):c.244C>T (p.Arg82Ter)	CACNA1F (R82*)	Single nucleotide variant (nonsense +1 more)	not provided +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)	Ocular albinism, type II	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 23