ClinVar for MedGen (Select 332080) - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382307	NM_014014.5(SNRNP200):c.2534G>A (p.Gly845Glu)	SNRNP200 (G845E)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 33	GUncertain significance
Select item 3376710	NM_014014.5(SNRNP200):c.3341T>C (p.Leu1114Pro)	SNRNP200 (L1114P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 33	GUncertain significance
Select item 2549472	NM_014014.5(SNRNP200):c.2951T>C (p.Leu984Pro)	SNRNP200 (L984P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2436216	NM_014014.5(SNRNP200):c.5918G>A (p.Arg1973His)	SNRNP200 (R1973H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2436215	NM_014014.5(SNRNP200):c.3322A>G (p.Thr1108Ala)	SNRNP200 (T1108A)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 33	GUncertain significance
Select item 1709535	NM_014014.5(SNRNP200):c.5914A>C (p.Lys1972Gln)	SNRNP200 (K1972Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 33	GUncertain significance
Select item 1687526	NM_014014.5(SNRNP200):c.1616T>A (p.Ile539Asn)	SNRNP200 (I539N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1511786	NM_014014.5(SNRNP200):c.1951C>T (p.Leu651Phe)	SNRNP200 (L651F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1360981	NM_014014.5(SNRNP200):c.3269G>A (p.Arg1090Gln)	SNRNP200 (R1090Q)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 1213929	NM_014014.5(SNRNP200):c.1507G>A (p.Ala503Thr)	SNRNP200 (A503T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 33	GUncertain significance
Select item 1170063	NM_014014.5(SNRNP200):c.4377C>T (p.Ile1459=)	SNRNP200	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 33 +1 more	GBenign/Likely benign
Select item 1166857	NM_014014.5(SNRNP200):c.5755-20A>G	SNRNP200	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1131128	NM_014014.5(SNRNP200):c.982+10T>C	SNRNP200	Single nucleotide variant (intron variant)	Retinitis pigmentosa 33 +1 more	GLikely benign
Select item 1065772	NM_014014.5(SNRNP200):c.2581T>C (p.Tyr861His)	SNRNP200 (Y861H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 33	GUncertain significance
Select item 932139	NM_014014.5(SNRNP200):c.557A>G (p.Lys186Arg)	SNRNP200 (K186R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 33	GUncertain significance
Select item 931912	NM_014014.5(SNRNP200):c.4943G>A (p.Arg1648Gln)	SNRNP200 (R1648Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 930975	NM_014014.5(SNRNP200):c.629A>G (p.Glu210Gly)	SNRNP200 (E210G)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 33	GUncertain significance
Select item 930353	NM_014014.5(SNRNP200):c.1786A>G (p.Ile596Val)	SNRNP200 (I596V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 33	GUncertain significance
Select item 866658	NM_014014.5(SNRNP200):c.3688A>G (p.Ser1230Gly)	SNRNP200 (S1230G)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 862932	NM_014014.5(SNRNP200):c.2359G>A (p.Ala787Thr)	SNRNP200 (A787T)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 839537	NM_014014.5(SNRNP200):c.1634G>A (p.Arg545His)	SNRNP200 (R545H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 839536	NM_014014.5(SNRNP200):c.1792C>T (p.Arg598Cys)	SNRNP200 (R598C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 813998	NM_014014.5(SNRNP200):c.2438C>T (p.Ala813Val)	SNRNP200 (A813V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 33	GLikely pathogenic
Select item 811882	NM_014014.5(SNRNP200):c.382-13T>C	SNRNP200	Single nucleotide variant (intron variant)	Retinitis pigmentosa 33	GLikely benign
Select item 811347	NM_014014.5(SNRNP200):c.4036G>A (p.Val1346Met)	SNRNP200 (V1346M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 774164	NM_014014.5(SNRNP200):c.3315A>G (p.Ala1105=)	SNRNP200	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 636112	NM_014014.5(SNRNP200):c.2041C>T (p.Arg681Cys)	SNRNP200 (R681C)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GPathogenic/Likely pathogenic
Select item 337562	NM_014014.5(SNRNP200):c.723G>A (p.Ser241=)	SNRNP200	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 33 +3 more	GBenign
Select item 337548	NM_014014.5(SNRNP200):c.3550T>C (p.Leu1184=)	SNRNP200	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 33 +3 more	GBenign
Select item 337536	NM_014014.5(SNRNP200):c.5317C>T (p.Leu1773=)	LOC126806272, SNRNP200	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 33 +3 more	GBenign
Select item 337531	NM_014014.5(SNRNP200):c.5775C>G (p.Ala1925=)	SNRNP200	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 33 +2 more	GBenign/Likely benign
Select item 337528	NM_014014.5(SNRNP200):c.5983G>A (p.Ala1995Thr)	SNRNP200 (A1995T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 197443	NM_014014.5(SNRNP200):c.5766C>T (p.Leu1922=)	SNRNP200	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 196134	NM_014014.5(SNRNP200):c.3654C>T (p.Ser1218=)	SNRNP200	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 33 +4 more	GBenign/Likely benign
Select item 195686	NM_014014.5(SNRNP200):c.3005A>G (p.Asn1002Ser)	SNRNP200 (N1002S)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 167714	NM_014014.5(SNRNP200):c.2800A>G (p.Thr934Ala)	SNRNP200 (T934A)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GBenign/Likely benign
Select item 143144	NM_014014.5(SNRNP200):c.2042G>A (p.Arg681His)	SNRNP200 (R681H)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 39747	NM_014014.5(SNRNP200):c.2653C>G (p.Gln885Glu)	SNRNP200 (Q885E)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 33	GPathogenic
Select item 39746	NM_014014.5(SNRNP200):c.3269G>T (p.Arg1090Leu)	SNRNP200 (R1090L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 33	GPathogenic
Select item 7928	NM_014014.5(SNRNP200):c.3260C>T (p.Ser1087Leu)	SNRNP200 (S1087L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity

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Links from MedGen

Items: 40