Related gene-specific medical variations for Gene (Select 948) - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382270	NM_001001548.3(CD36):c.1313_1316dup (p.Leu440fs)	CD36 (L285fs +5 more)	Duplication (frameshift variant +1 more)	Platelet-type bleeding disorder 10 +2 more	GLikely pathogenic
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 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 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 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 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 689138	GRCh37/hg19 7q21.11(chr7:80197285-80276756)x3	CD36	Copy number gain	not provided	GUncertain significance
Select item 689019	GRCh37/hg19 7q21.11(chr7:80256888-80276756)x1	CD36	Copy number loss	not provided	GPathogenic
Select item 689013	GRCh37/hg19 7q21.11(chr7:80197285-80276756)x3	CD36	Copy number gain	not provided	GUncertain significance
Select item 688623	GRCh37/hg19 7q21.11(chr7:80256737-80276756)x1	CD36	Copy number loss	not provided	GPathogenic
Select item 688327	GRCh37/hg19 7q21.11(chr7:80254409-80276756)x1	CD36	Copy number loss	not provided	GPathogenic
Select item 688139	GRCh37/hg19 7q21.11(chr7:80262999-80276756)x1	CD36	Copy number loss	not provided	GPathogenic
Select item 686754	GRCh37/hg19 7q21.11(chr7:80254791-80276756)x1	CD36	Copy number loss	not provided	GPathogenic
Select item 686719	GRCh37/hg19 7q21.11(chr7:80262999-80276756)x1	CD36	Copy number loss	not provided	GPathogenic
Select item 686525	GRCh37/hg19 7q21.11(chr7:80256737-80276756)x1	CD36	Copy number loss	not provided	GPathogenic
Select item 686312	GRCh37/hg19 7q21.11(chr7:80262999-80276756)x1	CD36	Copy number loss	not provided	GPathogenic
Select item 686205	GRCh37/hg19 7q21.11(chr7:80242420-80303812)x1	CD36	Copy number loss	not provided	GPathogenic
Select item 685689	GRCh37/hg19 7q21.11(chr7:80256254-80276756)x1	CD36	Copy number loss	not provided	GPathogenic
Select item 563272	GRCh37/hg19 7q21.11(chr7:80298915-80355210)x1	CD36	Copy number loss	not provided	GUncertain significance
Select item 487081	27645del/ins	CD36	Single nucleotide variant	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 487080	NM_001001548.3(CD36):c.*651C>G	CD36	Single nucleotide variant (3 prime UTR variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
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 442306	GRCh37/hg19 7q21.11(chr7:80256737-80277776)x0	CD36	Copy number loss	See cases	GPathogenic
Select item 394913	GRCh37/hg19 7q21.11(chr7:80231693-80299220)x1	CD36	Copy number loss	See cases	GLikely benign
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 13542	Multiple alleles	CD36	Single nucleotide variant (intron variant +1 more)	Coronary heart disease, susceptibility to, 7	Grisk factor
Select item 13537	CD36, G1439C, 1-BP DEL, 1444A	CD36	Deletion	Platelet-type bleeding disorder 10 +1 more	GPathogenic; risk factor

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Items: 38