CD47[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ABHD10, ABI3BP +431 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +398 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57243	GRCh38/hg38 3q13.11-13.13(chr3:103692220-109605902)x1	LOC129389108, LOC129389109 +89 more	Copy number loss	See cases	GPathogenic
Select item 57980	GRCh38/hg38 3q13.11-13.31(chr3:104621220-116093884)x3	LOC132088858, LOC132088860 +248 more	Copy number gain	See cases	GPathogenic
Select item 150361	GRCh38/hg38 3q13.11-13.13(chr3:106451492-109265496)x1	BBX, C3orf85 +61 more	Copy number loss	See cases	GPathogenic
Select item 2528231	NM_001777.4(CD47):c.956T>G (p.Met319Arg)	CD47 (M319R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527128	NM_001777.4(CD47):c.947C>T (p.Ser316Leu)	CD47 (S316L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140602	NM_001777.4(CD47):c.805C>G (p.Pro269Ala)	CD47 (P269A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545982	NM_001777.4(CD47):c.770G>A (p.Ser257Asn)	CD47 (S257N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140601	NM_001777.4(CD47):c.712G>A (p.Val238Ile)	CD47 (V238I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613686	NM_001777.4(CD47):c.583A>C (p.Ile195Leu)	CD47 (I195L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223101	NM_001777.4(CD47):c.533C>G (p.Ala178Gly)	CD47 (A178G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264845	NM_001777.4(CD47):c.448A>G (p.Ile150Val)	CD47 (I150V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521269	NM_001777.4(CD47):c.382G>A (p.Glu128Lys)	CD47 (E128K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209846	NM_001777.4(CD47):c.310G>A (p.Asp104Asn)	CD47 (D104N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546547	NM_001777.4(CD47):c.263T>C (p.Val88Ala)	CD47 (V88A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344986	NM_001777.4(CD47):c.255A>T (p.Lys85Asn)	CD47 (K85N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398146	NM_001777.4(CD47):c.92C>T (p.Thr31Met)	CD47 (T31M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685089	GRCh37/hg19 3q13.12-13.13(chr3:106530324-108811014)x1	BBX, CCDC54 +10 more	Copy number loss	not provided	GUncertain significance
Select item 1807773	GRCh37/hg19 3q13.12-13.31(chr3:107059705-115005256)x1	ABHD10, ATG3 +49 more	Copy number loss	not provided	GPathogenic
Select item 1703653	GRCh37/hg19 3q13.12-13.31(chr3:106598767-115704696)	ABHD10, ATG3 +51 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 814468	GRCh37/hg19 3q12.3-13.2(chr3:101812245-112174485)x1	ABHD10, ALCAM +29 more	Copy number loss	not provided	GPathogenic
Select item 562800	GRCh37/hg19 3q13.12-13.13(chr3:107548272-108187643)x1	MYH15, CD47 +2 more	Copy number loss	not provided	GUncertain significance
Select item 562799	GRCh37/hg19 3q13.12-13.13(chr3:106706719-109171489)x1	MORC1-AS1, DZIP3 +13 more	Copy number loss	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 393800	GRCh37/hg19 3q13.11-13.32(chr3:105094834-117441953)x1	ABHD10, ALCAM +53 more	Copy number loss	See cases	GPathogenic

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Items: 31