ClinVar for Gene (Select 5950) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3152597	NM_006744.4(RBP4):c.55G>C (p.Glu19Gln)	RBP4 (E19Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 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 3063183	GRCh37/hg19 10q23.33-24.2(chr10:94283369-101820913)x1	ABCC2, ACSM6 +74 more	Copy number loss	not specified	GPathogenic
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063132	GRCh37/hg19 10q23.31-24.2(chr10:90796994-100067505)x1	ACSM6, ALDH18A1 +83 more	Copy number loss	not specified	GPathogenic
Select item 3003050	NM_006744.4(RBP4):c.213G>A (p.Met71Ile)	RBP4 (M69I +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 2992685	NM_006744.4(RBP4):c.199G>A (p.Glu67Lys)	RBP4 (E67K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 2978747	NM_006744.4(RBP4):c.372C>T (p.Ile124=)	RBP4	Single nucleotide variant (synonymous 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 2959262	NM_006744.4(RBP4):c.355+19G>T	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 2872519	NM_006744.4(RBP4):c.208C>G (p.Gln70Glu)	RBP4 (Q70E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2866709	NM_006744.4(RBP4):c.588A>G (p.Ser196=)	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 2796874	NM_006744.4(RBP4):c.529C>T (p.Leu177=)	RBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2782832	NM_006744.4(RBP4):c.60C>A (p.Arg20=)	RBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2764691	NM_006744.4(RBP4):c.85G>C (p.Val29Leu)	RBP4 (V27L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2751413	NM_006744.4(RBP4):c.277G>A (p.Gly93Ser)	RBP4 (G91S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2743852	NM_006744.4(RBP4):c.111+11G>A	RBP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2684613	GRCh37/hg19 10q23.32-23.33(chr10:93788061-96452666)x3	BTAF1, CEP55 +20 more	Copy number gain	not provided	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2608055	NM_006744.4(RBP4):c.472G>T (p.Asp158Tyr)	RBP4 (D156Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2446762	GRCh37/hg19 10q23.32-24.1(chr10:93281410-97596360)x1	ACSM6, ALDH18A1 +33 more	Copy number loss	See cases	GPathogenic
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 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 2430198	NM_006744.4(RBP4):c.271A>G (p.Met91Val)	RBP4 (M89V +1 more)	Single nucleotide variant (missense variant)	Microphthalmia	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 2430196	NM_006744.4(RBP4):c.218C>T (p.Ala73Val)	RBP4 (A71V +1 more)	Single nucleotide variant (missense variant)	Anophthalmia	GLikely pathogenic
Select item 2293972	NM_006744.4(RBP4):c.37C>G (p.Leu13Val)	RBP4 (L13V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2162227	NM_006744.4(RBP4):c.558C>T (p.Ile186=)	RBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2145465	NM_006744.4(RBP4):c.99C>T (p.Phe33=)	RBP4	Single nucleotide variant (synonymous 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 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 2125118	NM_006744.4(RBP4):c.324_349del (p.Tyr108_Lys117delinsTer)	RBP4	Deletion (nonsense)	not provided	GPathogenic
Select item 2119057	NM_006744.4(RBP4):c.132C>T (p.Ala44=)	RBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2113430	NM_006744.4(RBP4):c.224C>A (p.Ala75Asp)	RBP4 (A75D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2093046	NM_006744.4(RBP4):c.249-14C>T	RBP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2087686	NM_006744.4(RBP4):c.87C>A (p.Val29=)	RBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2011541	NM_006744.4(RBP4):c.543G>A (p.Arg181=)	RBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1951909	NM_006744.4(RBP4):c.258C>T (p.Asp86=)	RBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1943399	NM_006744.4(RBP4):c.257A>T (p.Asp86Val)	RBP4 (D84V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1940411	NM_006744.4(RBP4):c.184G>A (p.Glu62Lys)	RBP4 (E60K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1934011	NM_006744.4(RBP4):c.402G>A (p.Val134=)	RBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1923144	NM_006744.4(RBP4):c.111+18G>A	RBP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1920770	NM_006744.4(RBP4):c.111+1G>C	RBP4	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1915297	NM_006744.4(RBP4):c.112-18C>T	RBP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1909125	NM_006744.4(RBP4):c.111+20G>A	RBP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1904499	NM_006744.4(RBP4):c.248+17G>A	RBP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1898086	NM_006744.4(RBP4):c.157C>G (p.Leu53Val)	RBP4 (L53V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1896307	NM_006744.4(RBP4):c.568+5G>C	RBP4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1807839	GRCh37/hg19 10q23.31-23.33(chr10:89823147-96056941)x1	ACTA2, ANKRD1 +46 more	Copy number loss	not provided	GPathogenic
Select item 1714039	NM_006744.4(RBP4):c.133A>C (p.Met45Leu)	RBP4 (M43L +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 1666534	NM_006744.4(RBP4):c.355+9T>A	RBP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1666136	NM_006744.4(RBP4):c.387C>T (p.Tyr129=)	RBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1653536	NM_006744.4(RBP4):c.192C>G (p.Ser64=)	RBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1650509	NM_006744.4(RBP4):c.102C>T (p.Asp34=)	RBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1648952	NM_006744.4(RBP4):c.294C>G (p.Thr98=)	RBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1645761	NM_006744.4(RBP4):c.248+14G>A	RBP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1642639	NM_006744.4(RBP4):c.393G>A (p.Thr131=)	RBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1642554	NM_006744.4(RBP4):c.510A>C (p.Val170=)	RBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1633563	NM_006744.4(RBP4):c.25C>T (p.Leu9=)	RBP4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1620987	NM_006744.4(RBP4):c.112-29_112-18del	RBP4	Deletion (intron variant)	not provided	GLikely benign
Select item 1594221	NM_006744.4(RBP4):c.375C>T (p.Val125=)	RBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1578166	NM_006744.4(RBP4):c.225C>G (p.Ala75=)	RBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1577227	NM_006744.4(RBP4):c.569-10dup	RBP4	Duplication (intron variant)	not provided	GLikely benign
Select item 1540808	NM_006744.4(RBP4):c.111+20G>T	RBP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1539693	NM_006744.4(RBP4):c.78C>T (p.Ser26=)	RBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1539479	NM_006744.4(RBP4):c.568+10G>A	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 1536413	NM_006744.4(RBP4):c.141G>A (p.Lys47=)	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 1527596	GRCh37/hg19 10q23.31-24.1(chr10:92667881-98970384)	ACSM6, ALDH18A1 +49 more	Copy number loss	not specified	GPathogenic
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 1516302	NM_006744.4(RBP4):c.126G>T (p.Trp42Cys)	RBP4 (W40C +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 1501368	NM_006744.4(RBP4):c.111+5G>A	RBP4	Single nucleotide variant (intron 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 1497505	NM_006744.4(RBP4):c.196G>A (p.Asp66Asn)	RBP4 (D64N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1484809	NM_006744.4(RBP4):c.198C>A (p.Asp66Glu)	RBP4 (D64E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1476907	NM_006744.4(RBP4):c.110G>T (p.Arg37Leu)	RBP4 (R35L +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 1467747	NM_006744.4(RBP4):c.486_487delinsTT (p.Pro163Ser)	RBP4 (P163S +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 1465487	NM_006744.4(RBP4):c.244_248+2del	RBP4	Deletion (splice donor variant)	not provided	GLikely pathogenic
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 1453574	NM_006744.4(RBP4):c.67C>T (p.Arg23Ter)	RBP4 (R23* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1428585	NM_006744.4(RBP4):c.67C>G (p.Arg23Gly)	RBP4 (R21G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1422590	NM_006744.4(RBP4):c.41G>A (p.Gly14Asp)	RBP4 (G14D)	Single nucleotide variant (missense variant +1 more)	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 1410577	NM_006744.4(RBP4):c.400G>C (p.Val134Leu)	RBP4 (V132L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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