ClinVar for MedGen (Select 374856) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068127	NM_001001548.3(CD36):c.107del (p.Lys36fs)	CD36 (K36fs)	Deletion (frameshift variant +3 more)	Platelet-type bleeding disorder 10	GLikely pathogenic
Select item 3067875	NM_001001548.3(CD36):c.1345_1348del (p.Leu449fs)	CD36 (L294fs +5 more)	Deletion (frameshift variant +1 more)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 3065787	NM_001001548.3(CD36):c.588del (p.Thr197fs)	CD36 (T121fs +3 more)	Deletion (frameshift variant +2 more)	Platelet-type bleeding disorder 10	GLikely pathogenic
Select item 3065439	NM_001001548.3(CD36):c.1206_1230dup (p.Val411fs)	CD36 (V411fs +5 more)	Duplication (frameshift variant +1 more)	Platelet-type bleeding disorder 10	GLikely pathogenic
Select item 3062138	NM_001001548.3(CD36):c.1124C>T (p.Pro375Leu)	CD36 (P220L +5 more)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 2627047	NM_001001548.3(CD36):c.161G>A (p.Trp54Ter)	CD36 (W54*)	Single nucleotide variant (nonsense +3 more)	Platelet-type bleeding disorder 10	GLikely pathogenic
Select item 2579140	NM_001001548.3(CD36):c.511del (p.Gln171fs)	CD36 (Q137fs +3 more)	Deletion (frameshift variant +2 more)	Platelet-type bleeding disorder 10	GLikely pathogenic
Select item 2441933	NM_001001548.3(CD36):c.689A>G (p.Tyr230Cys)	CD36 (Y154C +4 more)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 2439817	NM_001001548.3(CD36):c.379_381dup (p.Ser127_Val128insSer)	CD36	Duplication (inframe_insertion +2 more)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 2439816	NM_001001548.3(CD36):c.855del (p.Gly287fs)	CD36 (G132fs +5 more)	Deletion (frameshift variant)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 2438914	NM_001001548.3(CD36):c.186C>G (p.Tyr62Ter)	CD36 (Y62*)	Single nucleotide variant (nonsense +3 more)	Platelet-type bleeding disorder 10	GLikely pathogenic
Select item 1339012	NM_001001548.3(CD36):c.971C>G (p.Ser324Ter)	CD36 (S169* +5 more)	Single nucleotide variant (nonsense)	Platelet-type bleeding disorder 10	GLikely pathogenic
Select item 1324033	NM_001001548.3(CD36):c.1240_1243dup (p.Trp415fs)	CD36 (W260fs +5 more)	Duplication (frameshift variant +1 more)	Platelet-type bleeding disorder 10	GPathogenic/Likely pathogenic
Select item 1324028	NM_001001548.3(CD36):c.610-2A>G	CD36	Single nucleotide variant (splice acceptor variant)	Platelet-type bleeding disorder 10	GLikely pathogenic
Select item 1322043	NM_001001548.3(CD36):c.729C>A (p.Cys243Ter)	CD36 (C167* +4 more)	Single nucleotide variant (nonsense +2 more)	Platelet-type bleeding disorder 10	GPathogenic
Select item 1322041	NM_001001548.3(CD36):c.638_639del (p.Lys213fs)	CD36 (K137fs +4 more)	Deletion (frameshift variant +1 more)	Platelet-type bleeding disorder 10	GPathogenic
Select item 1301547	NM_001001548.3(CD36):c.667_671dup (p.Ala225fs)	CD36 (A149fs +4 more)	Duplication (frameshift variant +1 more)	Platelet-type bleeding disorder 10	GPathogenic
Select item 1299075	NM_001001548.3(CD36):c.660_669del (p.Asn220fs)	CD36 (N144fs +4 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1299074	NM_001001548.3(CD36):c.447_450dup (p.Asn151fs)	CD36 (N117fs +2 more)	Duplication (frameshift variant +3 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1013550	NM_001001548.3(CD36):c.1144C>T (p.Gln382Ter)	CD36 (Q227* +5 more)	Single nucleotide variant (nonsense +1 more)	Platelet-type bleeding disorder 10 +1 more	GLikely pathogenic
Select item 1012319	NM_001001548.3(CD36):c.1142T>G (p.Leu381Ter)	CD36 (L226* +5 more)	Single nucleotide variant (nonsense +1 more)	Platelet-type bleeding disorder 10	GLikely pathogenic
Select item 987919	NM_001001547.2:c.(?_-183)_(120_?)del	CD36	Deletion	Platelet-type bleeding disorder 10	GPathogenic
Select item 973555	NC_000007.14:g.80649748_80727446del	CD36	Deletion	Platelet-type bleeding disorder 10	GLikely pathogenic
Select item 911977	NM_001001548.3(CD36):c.*1419+163C>T	CD36	Single nucleotide variant (3 prime UTR variant +2 more)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 911921	NM_001001548.3(CD36):c.695G>T (p.Gly232Val)	CD36 (G77V +4 more)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 911920	NM_001001548.3(CD36):c.655G>T (p.Asp219Tyr)	CD36 (D159Y +4 more)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 10 +1 more	GUncertain significance
Select item 911919	NM_001001548.3(CD36):c.625G>C (p.Asp209His)	CD36 (D133H +4 more)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 10 +1 more	GUncertain significance
Select item 911918	NM_001001548.3(CD36):c.601T>C (p.Phe201Leu)	CD36 (F125L +3 more)	Single nucleotide variant (missense variant +2 more)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 911872	NM_001001548.3(CD36):c.44T>C (p.Ile15Thr)	CD36 (I15T)	Single nucleotide variant (missense variant +3 more)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 911871	NM_001001548.3(CD36):c.14G>A (p.Arg5Gln)	CD36 (R5Q)	Single nucleotide variant (missense variant +3 more)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 911870	NM_001001548.3(CD36):c.13C>T (p.Arg5Trp)	CD36 (R5W)	Single nucleotide variant (missense variant +3 more)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 911869	NM_001001548.3(CD36):c.5G>T (p.Gly2Val)	CD36 (G2V)	Single nucleotide variant (missense variant +3 more)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 911868	NM_001001547.3(CD36):c.-186T>G	CD36	Single nucleotide variant (5 prime UTR variant)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 910757	NM_001001548.3(CD36):c.*1419+10T>C	CD36	Single nucleotide variant (3 prime UTR variant +2 more)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 910756	NM_001001548.3(CD36):c.1409C>T (p.Thr470Ile)	CD36 (T410I +5 more)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 10 +1 more	GUncertain significance
Select item 910755	NM_001001548.3(CD36):c.1291A>G (p.Arg431Gly)	CD36 (R276G +5 more)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 910754	NM_001001548.3(CD36):c.1254+5G>T	CD36	Single nucleotide variant (intron variant)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 910753	NM_001001548.3(CD36):c.1200-12C>T	CD36	Single nucleotide variant (intron variant)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 910699	NM_001001548.3(CD36):c.591A>T (p.Thr197=)	CD36	Single nucleotide variant (synonymous variant +2 more)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 910698	NM_001001548.3(CD36):c.590C>T (p.Thr197Ile)	CD36 (T163I +3 more)	Single nucleotide variant (missense variant +2 more)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 910697	NM_001001548.3(CD36):c.573G>A (p.Pro191=)	CD36	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 910696	NM_001001548.3(CD36):c.572C>T (p.Pro191Leu)	CD36 (P157L +3 more)	Single nucleotide variant (missense variant +2 more)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 910695	NM_001001548.3(CD36):c.491A>G (p.Lys164Arg)	CD36 (K164R +3 more)	Single nucleotide variant (missense variant +2 more)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 910645	NM_001001547.3(CD36):c.-193C>G	CD36	Single nucleotide variant (5 prime UTR variant)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 910644	NM_001001547.3(CD36):c.-206A>C	CD36	Single nucleotide variant (5 prime UTR variant)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 910643	NM_001001547.3(CD36):c.-287G>A	CD36	Single nucleotide variant (5 prime UTR variant)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 909860	NM_001001548.3(CD36):c.1163A>T (p.Gln388Leu)	CD36 (Q312L +5 more)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 909859	NM_001001548.3(CD36):c.1045G>C (p.Ala349Pro)	CD36 (A273P +5 more)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 909858	NM_001001548.3(CD36):c.907C>G (p.Pro303Ala)	CD36 (P227A +5 more)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 909796	NM_001001548.3(CD36):c.429+5G>T	CD36	Single nucleotide variant (intron variant)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 909795	NM_001001548.3(CD36):c.410T>C (p.Val137Ala)	CD36 (V137A +2 more)	Single nucleotide variant (missense variant +2 more)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 909794	NM_001001548.3(CD36):c.403T>C (p.Phe135Leu)	CD36 (F59L +2 more)	Single nucleotide variant (missense variant +2 more)	Platelet-type bleeding disorder 10 +1 more	GConflicting classifications of pathogenicity
Select item 909793	NM_001001548.3(CD36):c.355G>T (p.Gly119Cys)	CD36 (G43C +2 more)	Single nucleotide variant (missense variant +2 more)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 909792	NM_001001548.3(CD36):c.318C>T (p.Asp106=)	CD36	Single nucleotide variant (synonymous variant +2 more)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 908993	NM_001001548.3(CD36):c.879T>C (p.Phe293=)	CD36	Single nucleotide variant (synonymous variant)	Platelet-type bleeding disorder 10 +1 more	GConflicting classifications of pathogenicity
Select item 908992	NM_001001548.3(CD36):c.875G>T (p.Arg292Ile)	CD36 (R232I +5 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 908991	NM_001001548.3(CD36):c.872A>G (p.Tyr291Cys)	CD36 (Y252C +5 more)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 908990	NM_001001548.3(CD36):c.846C>T (p.Asp282=)	CD36	Single nucleotide variant (synonymous variant)	Platelet-type bleeding disorder 10 +1 more	GConflicting classifications of pathogenicity
Select item 908989	NM_001001548.3(CD36):c.819-8G>A	CD36	Single nucleotide variant (intron variant)	Platelet-type bleeding disorder 10 +1 more	GConflicting classifications of pathogenicity
Select item 908988	NM_001001548.3(CD36):c.819-12C>A	CD36	Single nucleotide variant (intron variant)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 908987	NM_001001548.3(CD36):c.728G>A (p.Cys243Tyr)	CD36 (C167Y +4 more)	Single nucleotide variant (missense variant +2 more)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 908923	NM_001001548.3(CD36):c.281G>A (p.Arg94Lys)	CD36 (R18K +2 more)	Single nucleotide variant (missense variant +3 more)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 908922	NM_001001548.3(CD36):c.275C>T (p.Thr92Met)	CD36 (T92M +2 more)	Single nucleotide variant (missense variant +3 more)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 873470	NM_001001548.3(CD36):c.787_808del (p.Val263fs)	CD36 (V187fs +4 more)	Deletion (frameshift variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 810109	NM_001001548.3(CD36):c.660_664del (p.Asn220fs)	CD36 (N65fs +4 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 810108	NM_001001548.3(CD36):c.550G>A (p.Asp184Asn)	CD36 (D150N +3 more)	Single nucleotide variant (missense variant +2 more)	CD36-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 731329	NM_001001548.3(CD36):c.1404G>A (p.Ser468=)	CD36	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 709087	NM_001001548.3(CD36):c.610-5T>C	CD36	Single nucleotide variant (intron variant)	Platelet-type bleeding disorder 10 +1 more	GConflicting classifications of pathogenicity
Select item 692066	NM_001001548.3(CD36):c.1416_*1del (p.Lys472fs)	CD36 (K433fs +5 more)	Microsatellite (frameshift variant +1 more)	Platelet-type bleeding disorder 10 +1 more	GConflicting classifications of pathogenicity
Select item 692065	NM_001001548.3(CD36):c.1150del (p.Ala384fs)	CD36 (A229fs +5 more)	Deletion (frameshift variant +1 more)	Platelet-type bleeding disorder 10	GLikely pathogenic
Select item 632510	NM_001001548.3(CD36):c.1156C>T (p.Arg386Trp)	CD36 (R386W +5 more)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 10 +2 more	GConflicting classifications of pathogenicity
Select item 632509	NM_001001548.3(CD36):c.1126-5_1127del	CD36	Deletion (splice acceptor variant)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 632508	NM_001001548.3(CD36):c.1112_1119dup (p.Glu374fs)	CD36 (E314fs +5 more)	Duplication (frameshift variant +1 more)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 632507	NM_001001548.3(CD36):c.1079T>G (p.Leu360Ter)	CD36 (L360* +5 more)	Single nucleotide variant (nonsense +1 more)	Platelet-type bleeding disorder 10 +1 more	GConflicting classifications of pathogenicity
Select item 632012	NM_001001548.3(CD36):c.1297_1301del (p.Gln433fs)	CD36 (Q394fs +5 more)	Deletion (frameshift variant +1 more)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 632011	NM_001001548.3(CD36):c.701+1del	CD36	Deletion (splice donor variant)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 632010	NM_001001548.3(CD36):c.609+1G>A	CD36	Single nucleotide variant (splice donor variant +1 more)	not provided +1 more	GUncertain significance
Select item 632009	NM_001001548.3(CD36):c.430-2A>G	CD36	Single nucleotide variant (5 prime UTR variant +2 more)	Platelet-type bleeding disorder 10	GConflicting classifications of pathogenicity
Select item 632008	NM_001001548.3(CD36):c.380C>G (p.Ser127Ter)	CD36 (S127* +2 more)	Single nucleotide variant (nonsense +2 more)	Platelet-type bleeding disorder 10 +1 more	GConflicting classifications of pathogenicity
Select item 632007	NM_001001548.3(CD36):c.220C>T (p.Gln74Ter)	CD36 (Q74*)	Single nucleotide variant (nonsense +3 more)	Platelet-type bleeding disorder 10	GConflicting classifications of pathogenicity
Select item 417963	NM_001001548.3(CD36):c.701_701+3dup	CD36	Duplication (splice donor variant)	Platelet-type bleeding disorder 10 +2 more	GLikely benign
Select item 417962	NM_001001548.3(CD36):c.429+2T>C	CD36	Single nucleotide variant (splice donor variant)	Platelet-type bleeding disorder 10 +2 more	GConflicting classifications of pathogenicity
Select item 417926	NM_001001548.3(CD36):c.1254+1G>A	CD36	Single nucleotide variant (splice donor variant)	CD36-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 360773	NM_001001548.3(CD36):c.*1419+226A>G	CD36	Single nucleotide variant (3 prime UTR variant +2 more)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 360772	NM_001001548.3(CD36):c.*1419+202G>T	CD36	Single nucleotide variant (3 prime UTR variant +2 more)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 360771	NM_001001548.3(CD36):c.*1419+47A>G	CD36	Single nucleotide variant (3 prime UTR variant +2 more)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 360770	NM_001001548.3(CD36):c.1279G>T (p.Ala427Ser)	CD36 (A427S +5 more)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 10 +2 more	GConflicting classifications of pathogenicity
Select item 360769	NM_001001548.3(CD36):c.1220_1222del (p.Arg407del)	CD36 (R407del +5 more)	Deletion (inframe_deletion +1 more)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 360768	NM_001001548.3(CD36):c.1181_1185dup (p.Glu397fs)	CD36 (E358fs +5 more)	Duplication (frameshift variant +1 more)	Platelet-type bleeding disorder 10	GConflicting classifications of pathogenicity
Select item 360767	NM_001001548.3(CD36):c.1133G>T (p.Gly378Val)	CD36 (G378V +5 more)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 360766	NM_001001548.3(CD36):c.1126-15T>C	CD36	Single nucleotide variant (intron variant)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 360765	NM_001001548.3(CD36):c.1125+13C>A	CD36	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 360764	NM_001001548.3(CD36):c.1000A>G (p.Lys334Glu)	CD36 (K334E +5 more)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 360763	NM_001001548.3(CD36):c.853C>T (p.Leu285=)	CD36	Single nucleotide variant (synonymous variant)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 360762	NM_001001548.3(CD36):c.682G>A (p.Asp228Asn)	CD36 (D228N +4 more)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 10 +1 more	GUncertain significance
Select item 360761	NM_001001548.3(CD36):c.649G>A (p.Gly217Arg)	CD36 (G217R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 360760	NM_001001548.3(CD36):c.640G>A (p.Val214Ile)	CD36 (V214I +4 more)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 360759	NM_001001548.3(CD36):c.456A>G (p.Gln152=)	CD36	Single nucleotide variant (synonymous variant +3 more)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 360758	NM_001001548.3(CD36):c.429+15A>G	CD36	Single nucleotide variant (intron variant)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 360757	NM_001001548.3(CD36):c.405C>G (p.Phe135Leu)	CD36 (F135L +2 more)	Single nucleotide variant (missense variant +2 more)	Platelet-type bleeding disorder 10	GUncertain significance

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