RBP4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58776	GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1	LOC105378448, LOC107195252 +245 more	Copy number loss	See cases	GPathogenic
Select item 148854	GRCh38/hg38 10q23.33-24.1(chr10:92643919-95471137)x1	ACSM6, CEP55 +105 more	Copy number loss	See cases	GPathogenic
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 2866709	NM_006744.4(RBP4):c.588A>G (p.Ser196=)	RBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1057567	NM_006744.4(RBP4):c.577G>A (p.Asp193Asn)	RBP4 (D191N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1136472	NM_006744.4(RBP4):c.576C>T (p.Cys192=)	RBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 929566	NM_006744.4(RBP4):c.569-1G>A	RBP4	Single nucleotide variant (splice acceptor variant)	Microphthalmia, isolated, with coloboma 10	GLikely pathogenic
Select item 1577227	NM_006744.4(RBP4):c.569-10dup	RBP4	Duplication (intron variant)	not provided	GLikely benign
Select item 1263116	NM_006744.4(RBP4):c.569-81T>C	RBP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247112	NM_006744.4(RBP4):c.568+92G>A	RBP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282263	NM_006744.4(RBP4):c.568+67C>T	RBP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1539479	NM_006744.4(RBP4):c.568+10G>A	RBP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2892694	NM_006744.4(RBP4):c.568+7C>A	RBP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1896307	NM_006744.4(RBP4):c.568+5G>C	RBP4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1057428	NM_006744.4(RBP4):c.568+5G>T	RBP4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1413985	NM_006744.4(RBP4):c.568G>A (p.Gly190Ser)	RBP4 (G188S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1017235	NM_006744.4(RBP4):c.567C>T (p.Asn189=)	RBP4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 839508	NM_006744.4(RBP4):c.566A>G (p.Asn189Ser)	RBP4 (N187S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1019998	NM_006744.4(RBP4):c.563A>G (p.His188Arg)	RBP4 (H186R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1013571	NM_006744.4(RBP4):c.559G>A (p.Val187Ile)	RBP4 (V185I +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2162227	NM_006744.4(RBP4):c.558C>T (p.Ile186=)	RBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 289619	NM_006744.4(RBP4):c.544C>A (p.Gln182Lys)	RBP4 (Q182K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2011541	NM_006744.4(RBP4):c.543G>A (p.Arg181=)	RBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2796874	NM_006744.4(RBP4):c.529C>T (p.Leu177=)	RBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 943659	NM_006744.4(RBP4):c.528G>T (p.Glu176Asp)	RBP4 (E176D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 976725	NM_006744.4(RBP4):c.526G>T (p.Glu176Ter)	RBP4 (E174* +1 more)	Single nucleotide variant (nonsense)	Progressive retinal dystrophy due to retinol transport defect	GPathogenic
Select item 1378995	NM_006744.4(RBP4):c.523G>A (p.Glu175Lys)	RBP4 (E173K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2069421	NM_006744.4(RBP4):c.518G>A (p.Arg173Gln)	RBP4 (R173Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1026974	NM_006744.4(RBP4):c.517C>T (p.Arg173Trp)	RBP4 (R171W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1642554	NM_006744.4(RBP4):c.510A>C (p.Val170=)	RBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1149553	NM_006744.4(RBP4):c.507T>C (p.Ile169=)	RBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 935863	NM_006744.4(RBP4):c.505A>G (p.Ile169Val)	RBP4 (I167V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1089244	NM_006744.4(RBP4):c.498G>A (p.Ala166=)	RBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987902	NM_006744.4(RBP4):c.497C>T (p.Ala166Val)	RBP4 (A164V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3313376	NM_006744.4(RBP4):c.491C>G (p.Pro164Arg)	RBP4 (P162R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1467747	NM_006744.4(RBP4):c.486_487delinsTT (p.Pro163Ser)	RBP4 (P163S +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 1349390	NM_006744.4(RBP4):c.487C>T (p.Pro163Ser)	RBP4 (P161S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1469658	NM_006744.4(RBP4):c.481G>A (p.Gly161Ser)	RBP4 (G161S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1375546	NM_006744.4(RBP4):c.481G>T (p.Gly161Cys)	RBP4 (G159C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1107746	NM_006744.4(RBP4):c.480C>T (p.Asn160=)	RBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2608055	NM_006744.4(RBP4):c.472G>T (p.Asp158Tyr)	RBP4 (D156Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1392120	NM_006744.4(RBP4):c.471G>A (p.Arg157=)	RBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1938346	NM_006744.4(RBP4):c.470G>A (p.Arg157Gln)	RBP4 (R155Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1507048	NM_006744.4(RBP4):c.467C>T (p.Ser156Phe)	RBP4 (S154F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997203	NM_006744.4(RBP4):c.465T>C (p.Phe155=)	RBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1124050	NM_006744.4(RBP4):c.459C>T (p.Phe153=)	RBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1195426	NM_006744.4(RBP4):c.441T>G (p.Cys147Trp)	RBP4 (C145W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3152596	NM_006744.4(RBP4):c.424A>G (p.Asn142Asp)	RBP4 (N140D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 745817	NM_006744.4(RBP4):c.408C>T (p.Tyr136=)	RBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1531654	NM_006744.4(RBP4):c.405G>A (p.Gln135=)	RBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1934011	NM_006744.4(RBP4):c.402G>A (p.Val134=)	RBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1410577	NM_006744.4(RBP4):c.400G>C (p.Val134Leu)	RBP4 (V132L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1002888	NM_006744.4(RBP4):c.400G>A (p.Val134Met)	RBP4 (V132M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 965902	NM_006744.4(RBP4):c.399_400delinsTT (p.Val134Leu)	RBP4 (V132L +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 1119056	NM_006744.4(RBP4):c.399C>T (p.Ala133=)	RBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 430902	NM_006744.4(RBP4):c.394T>A (p.Tyr132Asn)	RBP4 (Y132N +1 more)	Single nucleotide variant (missense variant)	Unilateral microphthalmos	GLikely pathogenic
Select item 1642639	NM_006744.4(RBP4):c.393G>A (p.Thr131=)	RBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1408345	NM_006744.4(RBP4):c.392C>T (p.Thr131Met)	RBP4 (T129M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 942636	NM_006744.4(RBP4):c.392C>A (p.Thr131Lys)	RBP4 (T131K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1002336	NM_006744.4(RBP4):c.388G>A (p.Asp130Asn)	RBP4 (D128N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1666136	NM_006744.4(RBP4):c.387C>T (p.Tyr129=)	RBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2430199	NM_006744.4(RBP4):c.383A>G (p.Asp128Gly)	RBP4 (D126G +1 more)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis	GLikely pathogenic
Select item 1167102	NM_006744.4(RBP4):c.381A>G (p.Thr127=)	RBP4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2983187	NM_006744.4(RBP4):c.376G>A (p.Asp126Asn)	RBP4 (D124N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1594221	NM_006744.4(RBP4):c.375C>T (p.Val125=)	RBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 951540	NM_006744.4(RBP4):c.373G>A (p.Val125Ile)	RBP4 (V123I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978747	NM_006744.4(RBP4):c.372C>T (p.Ile124=)	RBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 954913	NM_006744.4(RBP4):c.369G>T (p.Trp123Cys)	RBP4 (W121C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430200	NM_006744.4(RBP4):c.358G>C (p.Asp120His)	RBP4 (D118H +1 more)	Single nucleotide variant (missense variant)	Congenital ocular coloboma	GLikely pathogenic
Select item 2430197	NM_006744.4(RBP4):c.358G>T (p.Asp120Tyr)	RBP4 (D118Y +1 more)	Single nucleotide variant (missense variant)	Bilateral microphthalmos	GLikely pathogenic
Select item 1277035	NM_006744.4(RBP4):c.356-25G>C	RBP4	Single nucleotide variant (intron variant)	Microphthalmia, isolated, with coloboma 10 +2 more	GBenign
Select item 1261690	NM_006744.4(RBP4):c.355+212G>A	RBP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271968	NM_006744.4(RBP4):c.355+182C>G	RBP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 931422	NM_006744.4(RBP4):c.355+123T>G	RBP4	Single nucleotide variant (intron variant)	Progressive retinal dystrophy due to retinol transport defect +1 more	GBenign
Select item 1231600	NM_006744.4(RBP4):c.355+91G>A	RBP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244524	NM_006744.4(RBP4):c.355+41G>C	RBP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2959262	NM_006744.4(RBP4):c.355+19G>T	RBP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1537397	NM_006744.4(RBP4):c.355+10C>G	RBP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1666534	NM_006744.4(RBP4):c.355+9T>A	RBP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962594	NM_006744.4(RBP4):c.355+8G>T	RBP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2130363	NM_006744.4(RBP4):c.355+1G>A	RBP4	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 493081	NM_006744.4(RBP4):c.353G>A (p.Gly118Glu)	RBP4 (G118E +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2125118	NM_006744.4(RBP4):c.324_349del (p.Tyr108_Lys117delinsTer)	RBP4	Deletion (nonsense)	not provided	GPathogenic
Select item 1994415	NM_006744.4(RBP4):c.348G>T (p.Gln116His)	RBP4 (Q116H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1140786	NM_006744.4(RBP4):c.339C>G (p.Ser113=)	RBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3152595	NM_006744.4(RBP4):c.335C>T (p.Ala112Val)	RBP4 (A112V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 732014	NM_006744.4(RBP4):c.333A>G (p.Val111=)	RBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1037197	NM_006744.4(RBP4):c.331G>A (p.Val111Ile)	RBP4 (V111I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2125119	NM_006744.4(RBP4):c.323A>G (p.Tyr108Cys)	RBP4 (Y108C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1464998	NM_006744.4(RBP4):c.316A>T (p.Met106Leu)	RBP4 (M104L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1672914	NM_006744.4(RBP4):c.303T>C (p.Pro101=)	RBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2816562	NM_006744.4(RBP4):c.302C>T (p.Pro101Leu)	RBP4 (P99L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 966812	NM_006744.4(RBP4):c.302C>A (p.Pro101His)	RBP4 (P101H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1499756	NM_006744.4(RBP4):c.301C>A (p.Pro101Thr)	RBP4 (P101T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1525829	NM_006744.4(RBP4):c.295G>A (p.Glu99Lys)	RBP4 (E97K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1648952	NM_006744.4(RBP4):c.294C>G (p.Thr98=)	RBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1043808	NM_006744.4(RBP4):c.293C>A (p.Thr98Asn)	RBP4 (T98N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1349791	NM_006744.4(RBP4):c.278G>T (p.Gly93Val)	RBP4 (G93V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 13068	NM_006744.4(RBP4):c.278G>A (p.Gly93Asp)	RBP4, FFAR4 (G93D +1 more)	Single nucleotide variant (missense variant)	Progressive retinal dystrophy due to retinol transport defect	GLikely pathogenic
Select item 2751413	NM_006744.4(RBP4):c.277G>A (p.Gly93Ser)	RBP4 (G91S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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