"Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg"[subm - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3249980	NC_000023.11:g.(?_49205136)_(49220525_49221034)del	CACNA1F, LOC126863257	Deletion	Retinal dystrophy	GPathogenic
Select item 3249032	NM_001256789.3(CACNA1F):c.5743G>A (p.Ala1915Thr)	CACNA1F (A1861T +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 957194	NM_001256789.3(CACNA1F):c.5447G>A (p.Arg1816Gln)	CACNA1F (R1762Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3248752	NM_001256789.3(CACNA1F):c.5207dup (p.Asp1736fs)	CACNA1F (D1682fs +2 more)	Duplication (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 3248786	NM_001256789.3(CACNA1F):c.4921del (p.Glu1641fs)	CACNA1F, LOC126863257 (E1587fs +2 more)	Deletion (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 1015133	NM_001256789.3(CACNA1F):c.4481G>T (p.Cys1494Phe)	CACNA1F (C1440F +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 587382	NM_001256789.3(CACNA1F):c.4471C>T (p.Arg1491Ter)	CACNA1F (R1502* +2 more)	Single nucleotide variant (nonsense)	Cone-rod dystrophy +2 more	GPathogenic
Select item 3250037	NM_001256789.3(CACNA1F):c.4466C>G (p.Pro1489Arg)	CACNA1F (P1435R +2 more)	Single nucleotide variant (missense variant)	Optic atrophy	GLikely pathogenic
Select item 3248857	NM_001256789.3(CACNA1F):c.4157G>T (p.Arg1386Leu)	CACNA1F (R1332L +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3250143	NM_001256789.3(CACNA1F):c.4100+2T>C	CACNA1F	Single nucleotide variant (splice donor variant)	Optic atrophy	GUncertain significance
Select item 3249869	NM_001256789.3(CACNA1F):c.4082C>T (p.Ala1361Val)	CACNA1F (A1307V +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 812245	NM_001256789.3(CACNA1F):c.4051C>T (p.Arg1351Ter)	CACNA1F (R1297* +2 more)	Single nucleotide variant (nonsense)	Optic atrophy +2 more	GPathogenic
Select item 3248894	NM_001256789.3(CACNA1F):c.3907C>T (p.Arg1303Cys)	CACNA1F (R1249C +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 871506	NM_001256789.3(CACNA1F):c.3863G>C (p.Arg1288Pro)	CACNA1F (R1234P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 636158	NM_001256789.3(CACNA1F):c.3236+3G>A	CACNA1F	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1907728	NM_001256789.3(CACNA1F):c.3159C>A (p.Asn1053Lys)	CACNA1F (N1053K +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)	Congenital stationary night blindness 2A +2 more	GPathogenic
Select item 3248963	NM_001256789.3(CACNA1F):c.3090-23_3104del	CACNA1F	Deletion (splice acceptor variant)	Retinal dystrophy	GPathogenic
Select item 3248954	NM_001256789.3(CACNA1F):c.2900G>A (p.Arg967Gln)	CACNA1F (R913Q +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3248912	NM_001256789.3(CACNA1F):c.2882G>A (p.Arg961Gln)	CACNA1F (R907Q +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 166779	NM_001256789.3(CACNA1F):c.2391GGA[8] (p.Glu814dup)	CACNA1F	Microsatellite (inframe_insertion)	not provided	GBenign
Select item 3248819	NM_001256789.3(CACNA1F):c.2381G>T (p.Gly794Val)	CACNA1F (G740V +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 259657	NM_001256789.3(CACNA1F):c.1870G>A (p.Val624Ile)	CACNA1F (V635I +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1002049	NM_001256789.3(CACNA1F):c.1717G>A (p.Gly573Ser)	CACNA1F (G519S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3250207	NM_001256789.3(CACNA1F):c.1687G>A (p.Val563Met)	CACNA1F (V509M +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3249069	NM_001256789.3(CACNA1F):c.1079C>T (p.Ser360Phe)	CACNA1F (S295F +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3249896	NM_001256789.3(CACNA1F):c.672_673del (p.Ile225fs)	CACNA1F (I160fs +1 more)	Microsatellite (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 3248718	NM_001256789.3(CACNA1F):c.605T>A (p.Val202Glu)	CACNA1F (V137E +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 1062073	NM_001256789.3(CACNA1F):c.367G>T (p.Ala123Ser)	CACNA1F (A123S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 988786	NM_001256789.3(CACNA1F):c.245G>A (p.Arg82Gln)	CACNA1F (R82Q)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 1021860	NM_001256789.3(CACNA1F):c.19G>A (p.Gly7Arg)	CACNA1F (G7R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3248658	NM_005183.4:c.621_1392delinsCTCATTG	CACNA1F	Indel	Retinal dystrophy	GPathogenic

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Items: 33