948[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 57096	GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1	ABHD11, ABHD11-AS1 +317 more	Copy number loss	See cases	GPathogenic
Select item 60244	GRCh38/hg38 7q11.23-21.11(chr7:73873420-83988860)x1	APTR, CACNA2D1 +249 more	Copy number loss	See cases	GPathogenic
Select item 154313	GRCh38/hg38 7q11.23-21.11(chr7:74377395-82031742)x1	APTR, CACNA2D1 +194 more	Copy number loss	See cases	GPathogenic
Select item 254280	Single allele	CACNA2D1, CACNA2D1-AS1 +79 more	Deletion	Seizure +1 more	GLikely pathogenic
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 487077	NM_001001547.3(CD36):c.-184+11225A>G	CD36	Single nucleotide variant (intron variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 13542	Multiple alleles	CD36	Single nucleotide variant (intron variant +1 more)	Coronary heart disease, susceptibility to, 7	Grisk factor
Select item 487078	NM_001001547.3(CD36):c.-184+13244G>A	CD36	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	GBenign
Select item 155322	GRCh38/hg38 7q21.11(chr7:80627421-80651297)x1	CD36	Copy number loss	See cases	GPathogenic
Select item 153237	GRCh38/hg38 7q21.11(chr7:80627421-80651297)x0	CD36	Copy number loss	See cases	GPathogenic/Likely pathogenic
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 1321826	NM_001001548.3(CD36):c.-89-1G>A	CD36	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
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 2528587	NM_001001548.3(CD36):c.43A>C (p.Ile15Leu)	CD36 (I15L)	Single nucleotide variant (missense variant +3 more)	not specified	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 2370989	NM_001001548.3(CD36):c.52G>A (p.Val18Ile)	CD36 (V18I)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
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 1708387	NM_001001548.3(CD36):c.120+1G>A	CD36	Single nucleotide variant (splice donor variant +1 more)	Stroke disorder	GPathogenic
Select item 1287973	NM_001001548.3(CD36):c.120+155C>T	CD36	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245960	NM_001001548.3(CD36):c.120+318G>A	CD36	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3030684	NM_001001548.3(CD36):c.120+399TG[8]	CD36	Microsatellite (intron variant)	CD36-related disorder	GLikely benign
Select item 13538	NM_001001547.2(CD36):c.120+399TG[12]	CD36	Microsatellite (intron variant)	Platelet-type bleeding disorder 10 +1 more	GPathogenic; protective
Select item 360750	NM_001001548.3(CD36):c.121-6T>C	CD36	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2344734	NM_001001548.3(CD36):c.143C>T (p.Thr48Ile)	CD36 (T48I)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 711987	NM_001001548.3(CD36):c.158del (p.Asn53fs)	CD36 (N53fs)	Deletion (frameshift variant +3 more)	not provided	GBenign
Select item 3041737	NM_001001548.3(CD36):c.157_158delinsG (p.Asn53fs)	CD36 (N53fs)	Indel (frameshift variant +3 more)	CD36-related disorder	GLikely pathogenic
Select item 711988	NM_001001548.3(CD36):c.158A>G (p.Asn53Ser)	CD36 (N53S)	Single nucleotide variant (missense variant +3 more)	not provided	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 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 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 2526309	NM_001001548.3(CD36):c.199A>G (p.Ile67Val)	CD36 (I67V)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2607891	NM_001001548.3(CD36):c.202T>G (p.Phe68Val)	CD36 (F68V)	Single nucleotide variant (missense variant +3 more)	not specified	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 2364548	NM_001001548.3(CD36):c.264A>T (p.Arg88Ser)	CD36 (R12S +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
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 +1 more	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 1697965	NM_001001548.3(CD36):c.281+924C>A	CD36	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	GBenign
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 1302901	NM_001001548.3(CD36):c.338_339del (p.Ser113fs)	CD36 (S113fs +2 more)	Microsatellite (frameshift variant +2 more)	CD36-related disorder +1 more	GUncertain significance
Select item 2472346	NM_001001548.3(CD36):c.353A>G (p.Asn118Ser)	CD36 (N42S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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 2366413	NM_001001548.3(CD36):c.362T>C (p.Ile121Thr)	CD36 (I121T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	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 3029091	NM_001001548.3(CD36):c.378_381dup (p.Val128fs)	CD36 (V128fs +2 more)	Duplication (frameshift variant +2 more)	CD36-related disorder	GLikely pathogenic
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 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 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 2218720	NM_001001548.3(CD36):c.401A>T (p.Asn134Ile)	CD36 (N100I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	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 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 3063647	NM_001001548.3(CD36):c.424G>A (p.Val142Met)	CD36 (V108M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2293144	NM_001001548.3(CD36):c.427G>T (p.Ala143Ser)	CD36 (A143S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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 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 1279758	NM_001001548.3(CD36):c.430-272A>G	CD36	Single nucleotide variant (intron variant)	not provided	GBenign
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 1302074	NM_001001548.3(CD36):c.430-1G>A	CD36	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely pathogenic
Select item 1708388	NM_001001548.3(CD36):c.443T>A (p.Ile148Asn)	CD36 (I114N +2 more)	Single nucleotide variant (missense variant +3 more)	CD36-related disorder +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 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 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 3140567	NM_001001548.3(CD36):c.523T>G (p.Leu175Val)	CD36 (L141V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3061735	NM_001001548.3(CD36):c.534G>C (p.Leu178=)	CD36	Single nucleotide variant (synonymous variant +2 more)	CD36-related disorder	GLikely benign
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 2541822	NM_001001548.3(CD36):c.553C>A (p.Pro185Thr)	CD36 (P109T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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 2257561	NM_001001548.3(CD36):c.580G>T (p.Val194Phe)	CD36 (V118F +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	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 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 3233481	NM_001001548.3(CD36):c.610-5T>G	CD36	Single nucleotide variant (intron variant)	not specified	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 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 2556301	NM_001001548.3(CD36):c.623C>A (p.Ala208Glu)	CD36 (A174E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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