"Illumina Laboratory Services, Illumina"[submitter] AND "CD36"[gene] - ClinVar

Search results

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 360740	NM_001001547.2(CD36):c.-375G>C	CD36	Single nucleotide variant	Platelet-type bleeding disorder 10	GBenign
Select item 360741	NM_001001547.3(CD36):c.-325G>A	CD36	Single nucleotide variant (5 prime UTR variant)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 360742	NM_001001547.3(CD36):c.-297G>A	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 360743	NM_001001547.3(CD36):c.-286C>A	CD36	Single nucleotide variant (5 prime UTR variant)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 360744	NM_001001547.3(CD36):c.-211C>T	CD36	Single nucleotide variant (5 prime UTR variant)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 360745	NM_001001547.3(CD36):c.-209C>T	CD36	Single nucleotide variant (5 prime UTR variant)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 360746	NM_001001547.3(CD36):c.-208C>T	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 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 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 360747	NM_001001548.3(CD36):c.-150T>A	CD36	Single nucleotide variant (5 prime UTR variant +2 more)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 360748	NM_001001548.3(CD36):c.-132A>C	CD36	Single nucleotide variant (5 prime UTR variant +2 more)	Platelet-type bleeding disorder 10	GBenign
Select item 360749	NM_001001548.3(CD36):c.-27C>T	CD36	Single nucleotide variant (5 prime UTR variant +2 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 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 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 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 360750	NM_001001548.3(CD36):c.121-6T>C	CD36	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 360751	NM_001001548.3(CD36):c.159T>C (p.Asn53=)	CD36	Single nucleotide variant (synonymous variant +3 more)	Platelet-type bleeding disorder 10	GUncertain significance
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 360752	NM_001001548.3(CD36):c.265G>T (p.Gly89Cys)	CD36 (G89C +2 more)	Single nucleotide variant (missense variant +3 more)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 13535	NM_001001548.3(CD36):c.268C>T (p.Pro90Ser)	CD36 (P90S +2 more)	Single nucleotide variant (non-coding transcript variant +3 more)	Inherited bleeding disorder, platelet-type +2 more	GConflicting classifications of pathogenicity
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 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 360753	NM_001001548.3(CD36):c.282-14T>A	CD36	Single nucleotide variant (intron variant)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 360754	NM_001001548.3(CD36):c.282-10A>G	CD36	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 225309	NM_001001548.3(CD36):c.332_333del (p.Thr111fs)	CD36 (T35fs +2 more)	Microsatellite (frameshift variant +2 more)	Platelet-type bleeding disorder 10 +2 more	GPathogenic
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 360755	NM_001001548.3(CD36):c.374C>T (p.Ser125Leu)	CD36 (S125L +2 more)	Single nucleotide variant (missense variant +2 more)	Platelet-type bleeding disorder 10	GUncertain significance
Select item 632008	NM_001001548.3(CD36):c.380C>G (p.Ser127Ter)	CD36 (S127* +2 more)	Single nucleotide variant (nonsense +2 more)	Inherited bleeding disorder, platelet-type +1 more	GConflicting classifications of pathogenicity
Select item 360756	NM_001001548.3(CD36):c.390A>T (p.Thr130=)	CD36	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 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
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 909796	NM_001001548.3(CD36):c.429+5G>T	CD36	Single nucleotide variant (intron variant)	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 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 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 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 810108	NM_001001548.3(CD36):c.550G>A (p.Asp184Asn)	CD36 (D150N +3 more)	Single nucleotide variant (missense variant +2 more)	CD36-related condition +2 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 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 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 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 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 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 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 911919	NM_001001548.3(CD36):c.625G>C (p.Asp209His)	CD36 (D133H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
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 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 911920	NM_001001548.3(CD36):c.655G>T (p.Asp219Tyr)	CD36 (D159Y +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	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 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 632011	NM_001001548.3(CD36):c.701+1del	CD36	Deletion (splice donor 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 908988	NM_001001548.3(CD36):c.819-12C>A	CD36	Single nucleotide variant (intron variant)	Platelet-type bleeding disorder 10	GUncertain significance
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 908990	NM_001001548.3(CD36):c.846C>T (p.Asp282=)	CD36	Single nucleotide variant (synonymous 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 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 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 908993	NM_001001548.3(CD36):c.879T>C (p.Phe293=)	CD36	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 13539	NM_001001548.3(CD36):c.949dup (p.Ile317fs)	CD36 (I278fs +5 more)	Duplication (frameshift variant)	Platelet-type bleeding disorder 10	GLikely pathogenic
Select item 13536	NM_001001548.3(CD36):c.975T>G (p.Tyr325Ter)	CD36 (Y325* +5 more)	Single nucleotide variant (nonsense)	not specified +1 more	GConflicting classifications of pathogenicity
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 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 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 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 360765	NM_001001548.3(CD36):c.1125+13C>A	CD36	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
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 632509	NM_001001548.3(CD36):c.1126-5_1127del	CD36	Deletion (splice acceptor variant)	Platelet-type bleeding disorder 10	GUncertain significance
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 632510	NM_001001548.3(CD36):c.1156C>T (p.Arg386Trp)	CD36 (R386W +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 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 910753	NM_001001548.3(CD36):c.1200-12C>T	CD36	Single nucleotide variant (intron variant)	Platelet-type bleeding disorder 10	GUncertain significance
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 225310	NM_001001548.3(CD36):c.1228_1239del (p.Ile410_Ile413del)	CD36	Deletion (inframe_deletion +1 more)	CD36-Related Disorders +1 more	GPathogenic/Likely pathogenic
Select item 417926	NM_001001548.3(CD36):c.1254+1G>A	CD36	Single nucleotide variant (splice donor variant)	CD36-related condition +1 more	GConflicting classifications of pathogenicity
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 360770	NM_001001548.3(CD36):c.1279G>T (p.Ala427Ser)	CD36 (A427S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 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 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 910756	NM_001001548.3(CD36):c.1409C>T (p.Thr470Ile)	CD36 (T410I +5 more)	Single nucleotide variant (missense variant +1 more)	CD36-related condition +1 more	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 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 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 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 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

ClinVar

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Items: 93