RLBP1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC130057943, LOC130057944 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	LOC130057907, LOC130057908 +630 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	ABHD2, ACAN +611 more	Copy number gain	See cases	GPathogenic
Select item 153554	GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3	ABHD2, ACAN +552 more	Copy number gain	See cases	GPathogenic
Select item 148189	GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	MIR11181, MIR1179 +517 more	Copy number gain	See cases	GPathogenic
Select item 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	LOC130057997, LOC130057998 +500 more	Copy number gain	See cases	GPathogenic
Select item 154660	GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3	LOC130057929, LOC130057930 +311 more	Copy number gain	See cases	GPathogenic
Select item 438253	NC_000015.10:g.89206897_89214258del	LOC130057872, RLBP1	Deletion	Retinal dystrophy +1 more	GLikely pathogenic
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 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 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 317226	NM_000326.5(RLBP1):c.*334T>C	RLBP1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 317227	NM_000326.5(RLBP1):c.*322C>T	RLBP1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +3 more	GBenign
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 317228	NM_000326.5(RLBP1):c.*296G>A	RLBP1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +3 more	GBenign
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 317229	NM_000326.5(RLBP1):c.*242A>C	RLBP1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +3 more	GBenign/Likely benign
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 887404	NM_000326.5(RLBP1):c.*212G>A	RLBP1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 317230	NM_000326.5(RLBP1):c.*167T>G	RLBP1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +3 more	GBenign
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 739180	NM_000326.5(RLBP1):c.936T>A (p.Ala312=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2110403	NM_000326.5(RLBP1):c.931C>T (p.Gln311Ter)	RLBP1 (Q311*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2022636	NM_000326.5(RLBP1):c.927G>A (p.Gln309=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 850206	NM_000326.5(RLBP1):c.925C>T (p.Gln309Ter)	RLBP1 (Q309*)	Single nucleotide variant (nonsense)	not specified +1 more	GUncertain significance
Select item 884447	NM_000326.5(RLBP1):c.924C>A (p.Pro308=)	RLBP1	Single nucleotide variant (synonymous variant)	Pigmentary retinal 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)	Newfoundland cone-rod dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 2879391	NM_000326.5(RLBP1):c.921C>A (p.Gly307=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1417729	NM_000326.5(RLBP1):c.917T>C (p.Phe306Ser)	RLBP1 (F306S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874588	NM_000326.5(RLBP1):c.909G>A (p.Glu303=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1000296	NM_000326.5(RLBP1):c.907G>C (p.Glu303Gln)	RLBP1 (E303Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2705218	NM_000326.5(RLBP1):c.906T>C (p.Ala302=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1046288	NM_000326.5(RLBP1):c.901G>T (p.Val301Phe)	RLBP1 (V301F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014658	NM_000326.5(RLBP1):c.900C>T (p.Ala300=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874090	NM_000326.5(RLBP1):c.897G>A (p.Lys299=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1478943	NM_000326.5(RLBP1):c.893G>A (p.Gly298Asp)	RLBP1 (G298D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1055313	NM_000326.5(RLBP1):c.892G>A (p.Gly298Ser)	RLBP1 (G298S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 795144	NM_000326.5(RLBP1):c.885G>A (p.Lys295=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2076116	NM_000326.5(RLBP1):c.876G>A (p.Thr292=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1368895	NM_000326.5(RLBP1):c.870_876del (p.Gly291fs)	RLBP1 (G291fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 317232	NM_000326.5(RLBP1):c.875C>T (p.Thr292Met)	RLBP1 (T292M)	Single nucleotide variant (missense variant)	Retinitis Pigmentosa, Recessive +2 more	GConflicting classifications of pathogenicity
Select item 1146718	NM_000326.5(RLBP1):c.870G>A (p.Gly290=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1090493	NM_000326.5(RLBP1):c.867C>T (p.Phe289=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1105108	NM_000326.5(RLBP1):c.864C>T (p.Asp288=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2697149	NM_000326.5(RLBP1):c.849C>T (p.Asn283=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2793688	NM_000326.5(RLBP1):c.843T>C (p.Asp281=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3028318	NM_000326.5(RLBP1):c.841G>A (p.Asp281Asn)	RLBP1 (D281N)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 2825503	NM_000326.5(RLBP1):c.840C>T (p.Ile280=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2903496	NM_000326.5(RLBP1):c.832C>T (p.Gln278Ter)	RLBP1 (Q278*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1482179	NM_000326.5(RLBP1):c.832del (p.Gln278fs)	RLBP1 (Q278fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1489065	NM_000326.5(RLBP1):c.827del (p.Phe276fs)	RLBP1 (F276fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2065725	NM_000326.5(RLBP1):c.824G>A (p.Gly275Asp)	RLBP1 (G275D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 286543	NM_000326.5(RLBP1):c.817C>T (p.Leu273Phe)	RLBP1 (L273F)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2188587	NM_000326.5(RLBP1):c.808G>A (p.Gly270Arg)	RLBP1 (G270R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 317233	NM_000326.5(RLBP1):c.807C>T (p.His269=)	RLBP1	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 739445	NM_000326.5(RLBP1):c.796G>A (p.Val266Ile)	RLBP1 (V266I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2755512	NM_000326.5(RLBP1):c.796-4G>A	RLBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1642835	NM_000326.5(RLBP1):c.796-5T>G	RLBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 317234	NM_000326.5(RLBP1):c.796-6C>T	RLBP1	Single nucleotide variant (intron variant)	Newfoundland cone-rod dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 2972023	NM_000326.5(RLBP1):c.796-7C>T	RLBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 317235	NM_000326.5(RLBP1):c.796-7C>G	RLBP1	Single nucleotide variant (intron variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 2904032	NM_000326.5(RLBP1):c.796-9T>C	RLBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2861111	NM_000326.5(RLBP1):c.796-10T>C	RLBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1945162	NM_000326.5(RLBP1):c.796-12G>T	RLBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2753574	NM_000326.5(RLBP1):c.796-13T>C	RLBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1109126	NM_000326.5(RLBP1):c.796-20T>A	RLBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2811581	NM_000326.5(RLBP1):c.795+19C>T	RLBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1957750	NM_000326.5(RLBP1):c.795+19C>G	RLBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1169044	NM_000326.5(RLBP1):c.795+17C>T	RLBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1897776	NM_000326.5(RLBP1):c.795+16G>A	RLBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 317236	NM_000326.5(RLBP1):c.795+15C>T	RLBP1	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 2816542	NM_000326.5(RLBP1):c.795+12G>A	RLBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1577066	NM_000326.5(RLBP1):c.795+9G>A	RLBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2985170	NM_000326.5(RLBP1):c.795+8C>T	RLBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2798427	NM_000326.5(RLBP1):c.795+8C>A	RLBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1087687	NM_000326.5(RLBP1):c.795+7A>G	RLBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1375043	NM_000326.5(RLBP1):c.795G>A (p.Arg265=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1698515	NM_000326.5(RLBP1):c.780_794del (p.Ser260_Glu264del)	RLBP1	Deletion (inframe_deletion)	not specified	GUncertain significance
Select item 1161588	NM_000326.5(RLBP1):c.789T>A (p.Leu263=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1362281	NM_000326.5(RLBP1):c.779G>A (p.Ser260Asn)	RLBP1 (S260N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 943296	NM_000326.5(RLBP1):c.776A>C (p.Lys259Thr)	RLBP1 (K259T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2841984	NM_000326.5(RLBP1):c.775A>G (p.Lys259Glu)	RLBP1 (K259E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 191063	NM_000326.5(RLBP1):c.773T>G (p.Leu258Trp)	RLBP1 (L258W)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2834113	NM_000326.5(RLBP1):c.771C>T (p.Phe257=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2746692	NM_000326.5(RLBP1):c.768C>T (p.Pro256=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2760964	NM_000326.5(RLBP1):c.762C>T (p.Val254=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2782720	NM_000326.5(RLBP1):c.756T>C (p.Asn252=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 969277	NM_000326.5(RLBP1):c.756T>G (p.Asn252Lys)	RLBP1 (N252K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1005628	NM_000326.5(RLBP1):c.755A>G (p.Asn252Ser)	RLBP1 (N252S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1101917	NM_000326.5(RLBP1):c.753C>T (p.Tyr251=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 829822	NM_000326.5(RLBP1):c.753C>A (p.Tyr251Ter)	RLBP1 (Y251*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2724911	NM_000326.5(RLBP1):c.750C>A (p.Thr250=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2703083	NM_000326.5(RLBP1):c.747G>C (p.Thr249=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1151498	NM_000326.5(RLBP1):c.747G>A (p.Thr249=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 593860	NM_000326.5(RLBP1):c.746C>T (p.Thr249Met)	RLBP1 (T249M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 198716	NM_000326.5(RLBP1):c.744C>T (p.Thr248=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2835411	NM_000326.5(RLBP1):c.738C>T (p.Tyr246=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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