ClinVar for MedGen (Select 334840) - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 887774	NM_000326.5(RLBP1):c.-169T>A	RLBP1	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 887714	NM_000326.5(RLBP1):c.228G>C (p.Ser76=)	RLBP1	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 887654	NM_000326.5(RLBP1):c.684+6G>C	RLBP1	Single nucleotide variant (intron variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 887653	NM_000326.5(RLBP1):c.701G>A (p.Arg234Gln)	RLBP1 (R234Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GUncertain significance
Select item 887533	NM_000326.5(RLBP1):c.*403T>C	RLBP1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 887404	NM_000326.5(RLBP1):c.*212G>A	RLBP1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 887403	NM_000326.5(RLBP1):c.*217A>C	RLBP1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 886399	NM_000326.5(RLBP1):c.*256G>A	RLBP1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 886398	NM_000326.5(RLBP1):c.*301T>A	RLBP1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 885501	NM_000326.5(RLBP1):c.78A>T (p.Thr26=)	RLBP1	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 885500	NM_000326.5(RLBP1):c.105C>T (p.Gly35=)	RLBP1	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 885439	NM_000326.5(RLBP1):c.525+14C>T	RLBP1	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 885438	NM_000326.5(RLBP1):c.526-4C>T	RLBP1	Single nucleotide variant (intron variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 885370	NM_000326.5(RLBP1):c.839T>C (p.Ile280Thr)	RLBP1 (I280T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 884503	NM_000326.5(RLBP1):c.626T>C (p.Met209Thr)	RLBP1 (M209T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GUncertain significance
Select item 884447	NM_000326.5(RLBP1):c.924C>A (p.Pro308=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 884446	NM_000326.5(RLBP1):c.*135G>A	RLBP1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 844049	NM_000326.5(RLBP1):c.282del (p.Phe95fs)	RLBP1 (F95fs)	Deletion (frameshift variant)	Pigmentary retinal dystrophy +2 more	GPathogenic
Select item 812398	NM_000326.5(RLBP1):c.602T>C (p.Ile201Thr)	RLBP1 (I201T)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 720750	NM_000326.5(RLBP1):c.529T>C (p.Leu177=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 503712	NM_000326.5(RLBP1):c.141+2T>C	RLBP1	Single nucleotide variant (splice donor variant)	RLBP1-Related Disorders +1 more	GPathogenic/Likely pathogenic
Select item 498474	NM_000326.5(RLBP1):c.25C>T (p.Arg9Cys)	RLBP1 (R9C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 317253	NM_000326.4(RLBP1):c.-354C>T	RLBP1	Single nucleotide variant	Pigmentary retinal dystrophy +2 more	GLikely benign
Select item 317252	NM_000326.4(RLBP1):c.-285C>G	RLBP1	Single nucleotide variant	Pigmentary retinal dystrophy +2 more	GLikely benign
Select item 317251	NM_000326.5(RLBP1):c.-234C>T	RLBP1	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 317250	NM_000326.5(RLBP1):c.-233G>A	RLBP1	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 317249	NM_000326.5(RLBP1):c.-199T>C	RLBP1	Single nucleotide variant (5 prime UTR variant)	Newfoundland cone-rod dystrophy +2 more	GUncertain significance
Select item 317248	NM_000326.5(RLBP1):c.-182G>C	RLBP1	Single nucleotide variant (5 prime UTR variant)	Newfoundland cone-rod dystrophy +2 more	GUncertain significance
Select item 317247	NM_000326.5(RLBP1):c.-104T>G	RLBP1	Single nucleotide variant (5 prime UTR variant)	Newfoundland cone-rod dystrophy +2 more	GUncertain significance
Select item 317246	NM_000326.5(RLBP1):c.-72C>T	RLBP1	Single nucleotide variant (5 prime UTR variant)	Newfoundland cone-rod dystrophy +2 more	GUncertain significance
Select item 317245	NM_000326.5(RLBP1):c.-70G>A	RLBP1	Single nucleotide variant (5 prime UTR variant)	Newfoundland cone-rod dystrophy +2 more	GBenign/Likely benign
Select item 317244	NM_000326.5(RLBP1):c.107C>T (p.Pro36Leu)	RLBP1 (P36L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GUncertain significance
Select item 317243	NM_000326.5(RLBP1):c.141+6G>A	RLBP1	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 317242	NM_000326.5(RLBP1):c.191G>A (p.Arg64Gln)	RLBP1 (R64Q)	Single nucleotide variant (missense variant)	Newfoundland cone-rod dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 317241	NM_000326.5(RLBP1):c.228G>A (p.Ser76=)	RLBP1	Single nucleotide variant (synonymous variant)	Newfoundland cone-rod dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 317240	NM_000326.5(RLBP1):c.304G>C (p.Ala102Pro)	RLBP1 (A102P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 317239	NM_000326.5(RLBP1):c.306A>C (p.Ala102=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 317238	NM_000326.5(RLBP1):c.353T>G (p.Val118Gly)	RLBP1 (V118G)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 317237	NM_000326.5(RLBP1):c.647G>A (p.Arg216Gln)	RLBP1 (R216Q)	Single nucleotide variant (missense variant)	Newfoundland cone-rod dystrophy +4 more	GUncertain significance
Select item 317236	NM_000326.5(RLBP1):c.795+15C>T	RLBP1	Single nucleotide variant (intron variant)	Retinitis pigmentosa +4 more	GConflicting classifications of pathogenicity
Select item 317235	NM_000326.5(RLBP1):c.796-7C>G	RLBP1	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 317234	NM_000326.5(RLBP1):c.796-6C>T	RLBP1	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 317233	NM_000326.5(RLBP1):c.807C>T (p.His269=)	RLBP1	Single nucleotide variant (synonymous variant)	Newfoundland cone-rod dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 317231	NM_000326.5(RLBP1):c.924C>G (p.Pro308=)	RLBP1	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 317230	NM_000326.5(RLBP1):c.*167T>G	RLBP1	Single nucleotide variant (3 prime UTR variant)	Newfoundland cone-rod dystrophy +3 more	GBenign
Select item 317229	NM_000326.5(RLBP1):c.*242A>C	RLBP1	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 317228	NM_000326.5(RLBP1):c.*296G>A	RLBP1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +3 more	GBenign
Select item 317227	NM_000326.5(RLBP1):c.*322C>T	RLBP1	Single nucleotide variant (3 prime UTR variant)	Newfoundland cone-rod dystrophy +2 more	GBenign
Select item 317226	NM_000326.5(RLBP1):c.*334T>C	RLBP1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 317225	NM_000326.5(RLBP1):c.*356G>A	RLBP1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 317224	NM_000326.5(RLBP1):c.*380C>T	RLBP1	Single nucleotide variant (3 prime UTR variant)	Newfoundland cone-rod dystrophy +2 more	GBenign/Likely benign
Select item 283817	NM_000326.5(RLBP1):c.346+3_346+8del	RLBP1	Deletion (intron variant)	Newfoundland cone-rod dystrophy +4 more	GBenign/Likely benign
Select item 281739	NM_000326.5(RLBP1):c.545T>G (p.Phe182Cys)	RLBP1 (F182C)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 197133	NM_000326.5(RLBP1):c.29T>A (p.Met10Lys)	RLBP1 (M10K)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 92847	NM_000326.5(RLBP1):c.303C>T (p.Arg101=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 13099	NM_000326.5(RLBP1):c.141G>A (p.Lys47=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GPathogenic

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Items: 56