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

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248692	NC_000023.11:g.(?_46837100)_(46879770_?)del	LOC130068202, RP2	Deletion	Retinal dystrophy	GPathogenic
Select item 418458	NM_006915.3(RP2):c.8G>C (p.Cys3Ser)	LOC130068202, RP2 (C3S)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 813219	NM_006915.3(RP2):c.40del (p.Glu14fs)	LOC130068202, RP2 (E14fs)	Deletion (frameshift variant)	Retinitis pigmentosa +1 more	GPathogenic
Select item 3249417	NM_006915.3(RP2):c.48del (p.Glu18fs)	LOC130068202, RP2 (E18fs)	Deletion (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 3249941	NM_006915.3(RP2):c.93del (p.Gln31fs)	RP2 (Q31fs)	Deletion (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 3248672	NM_006915.3(RP2):c.102+1G>A	RP2	Single nucleotide variant (splice donor variant)	Retinal dystrophy	GPathogenic
Select item 3249766	NM_006915.3(RP2):c.137_147del (p.Lys46fs)	RP2 (K46fs)	Deletion (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 3249894	NM_006915.3(RP2):c.266G>A (p.Cys89Tyr)	RP2 (C89Y)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 437944	NM_006915.3(RP2):c.352C>T (p.Arg118Cys)	RP2 (R118C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 10551	NM_006915.3(RP2):c.358C>T (p.Arg120Ter)	RP2 (R120*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 3249887	NM_006915.3(RP2):c.367_421dup (p.Ser141Ter)	RP2 (S141*)	Duplication (nonsense)	Retinal dystrophy	GPathogenic
Select item 1368127	NM_006915.3(RP2):c.385_386del (p.Leu129fs)	RP2 (L129fs)	Deletion (frameshift variant)	Retinal dystrophy +1 more	GPathogenic
Select item 425494	NM_006915.3(RP2):c.392del (p.Cys131fs)	RP2 (C131fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 860467	NM_006915.3(RP2):c.409_411del (p.Ile137del)	RP2 (I137del)	Deletion (inframe_deletion)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 3249764	NM_006915.3(RP2):c.512G>A (p.Trp171Ter)	RP2 (W171*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GPathogenic
Select item 866013	NM_006915.3(RP2):c.566T>C (p.Leu189Pro)	RP2 (L189P)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 1992509	NM_006915.3(RP2):c.735C>G (p.Tyr245Ter)	RP2 (Y245*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1331343	NM_006915.3(RP2):c.761T>C (p.Ile254Thr)	RP2 (I254T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 2	GUncertain significance
Select item 3248795	NM_006915.3(RP2):c.769-1G>A	RP2	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy	GPathogenic
Select item 3249905	NM_006915.3(RP2):c.810_811del (p.Ser271fs)	RP2 (S271fs)	Microsatellite (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 1184894	NM_006915.3(RP2):c.838del (p.Val280fs)	RP2 (V280fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3249923	NM_006915.3(RP2):c.847G>T (p.Glu283Ter)	RP2 (E283*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 3250317	NM_006915.3(RP2):c.884-1G>C	RP2	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy	GPathogenic
Select item 3250339	NM_006915.3(RP2):c.891del (p.Ile298fs)	RP2 (I298fs)	Deletion (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 722473	NM_006915.3(RP2):c.949G>A (p.Glu317Lys)	RP2 (E317K)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 3249822	NM_006915.3(RP2):c.968delinsTCC (p.Lys323fs)	RP2 (K323fs)	Indel (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 3250088	NM_006915.3:c.(102+1_103-1)_(883+1_884-1)del	RP2	Deletion	Retinal dystrophy	GPathogenic

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Items: 27