ClinVar for MedGen (Select 394544) - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2499619	NM_006915.3(RP2):c.883+1del	RP2	Deletion (splice donor variant)	Retinitis pigmentosa 2	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 1299649	NM_006915.3(RP2):c.969+3A>C	RP2	Single nucleotide variant (intron variant)	Retinitis pigmentosa 2	GLikely pathogenic
Select item 1213909	NM_006915.3(RP2):c.465_468dup (p.Phe157fs)	RP2 (F157fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 1213907	NM_006915.3(RP2):c.434T>C (p.Phe145Ser)	RP2 (F145S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 2 +1 more	GConflicting classifications of pathogenicity
Select item 1213906	NM_006915.3(RP2):c.333_334del (p.Leu112fs)	RP2 (L112fs)	Deletion (frameshift variant)	Retinitis pigmentosa 2	GPathogenic
Select item 1184478	NM_006915.3(RP2):c.768+1G>A	RP2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1172693	NM_006915.3(RP2):c.524A>C (p.His175Pro)	RP2 (H175P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 2	GLikely pathogenic
Select item 1068681	NM_006915.3(RP2):c.450G>A (p.Trp150Ter)	RP2 (W150*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1065686	NM_006915.3(RP2):c.103-2A>G	RP2	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 2	GLikely pathogenic
Select item 1048164	NM_006915.3(RP2):c.884-9T>A	RP2	Single nucleotide variant (intron variant)	Retinitis pigmentosa 2	GLikely pathogenic
Select item 1043015	NM_006915.3(RP2):c.969+2T>C	RP2	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1011905	NM_006915.3(RP2):c.286G>A (p.Val96Met)	RP2 (V96M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 914701	NM_006915.3(RP2):c.496A>G (p.Ile166Val)	RP2 (I166V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 871199	NM_006915.3(RP2):c.299dup (p.Phe101fs)	RP2 (F101fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 866167	NM_006915.3(RP2):c.768G>C (p.Glu256Asp)	RP2 (E256D)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 860467	NM_006915.3(RP2):c.409_411del (p.Ile137del)	RP2 (I137del)	Deletion (inframe_deletion)	Retinitis pigmentosa 2 +2 more	GPathogenic/Likely pathogenic
Select item 811614	NM_006915.3(RP2):c.613G>A (p.Glu205Lys)	RP2 (E205K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 803988	NM_006915.3(RP2):c.884-14G>A	RP2	Single nucleotide variant (intron variant)	Retinitis pigmentosa 2 +3 more	GConflicting classifications of pathogenicity
Select item 764245	NM_006915.3(RP2):c.1001C>A (p.Ser334Tyr)	RP2 (S334Y)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 2 +2 more	GBenign/Likely benign
Select item 737352	NM_006915.3(RP2):c.751A>G (p.Arg251Gly)	RP2 (R251G)	Single nucleotide variant (missense variant)	RP2-related disorder +2 more	GBenign/Likely benign
Select item 636099	NM_006915.3(RP2):c.49C>T (p.Pro17Ser)	LOC130068202, RP2 (P17S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 2 +1 more	GUncertain significance
Select item 635480	NM_006915.3(RP2):c.758del (p.Leu253fs)	RP2 (L253fs)	Deletion (frameshift variant)	Retinitis pigmentosa 2	GLikely pathogenic
Select item 587389	NM_006915.3(RP2):c.314G>A (p.Cys105Tyr)	RP2 (C105Y)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 2	GUncertain significance
Select item 437944	NM_006915.3(RP2):c.352C>T (p.Arg118Cys)	RP2 (R118C)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GPathogenic
Select item 418458	NM_006915.3(RP2):c.8G>C (p.Cys3Ser)	LOC130068202, RP2 (C3S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 2 +1 more	GConflicting classifications of pathogenicity
Select item 196444	NM_006915.3(RP2):c.844C>T (p.Arg282Trp)	RP2 (R282W)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 10551	NM_006915.3(RP2):c.358C>T (p.Arg120Ter)	RP2 (R120*)	Single nucleotide variant (nonsense)	Retinal dystrophy +3 more	GPathogenic
Select item 10549	NM_006915.3(RP2):c.353G>T (p.Arg118Leu)	RP2 (R118L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 2	GPathogenic
Select item 10548	NM_006915.3(RP2):c.453del (p.Tyr152Ilefs*4)	RP2 (Y152fs)	Deletion (frameshift variant)	Retinitis pigmentosa 2	GPathogenic
Select item 10547	NM_006915.3(RP2):c.453C>G (p.Tyr151Ter)	RP2 (Y151*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 2	GPathogenic
Select item 10546	NM_006915.3(RP2):c.353G>A (p.Arg118His)	RP2 (R118H)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 10545	NM_006915.3(RP2):c.76C>T (p.Gln26Ter)	RP2 (Q26*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 10544	NM_006915.3(RP2):c.16_18del (p.Ser6del)	LOC130068202, RP2 (S6del)	Deletion (inframe_deletion)	not provided	GLikely pathogenic

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Items: 34