CD70[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063246, LOC130063247 +810 more	Copy number gain	See cases	GPathogenic
Select item 150491	GRCh38/hg38 19p13.3-13.2(chr19:5905175-6916287)x3	ACER1, ACSBG2 +113 more	Copy number gain	See cases	GUncertain significance
Select item 3042709	NM_001330332.2(CD70):c.608A>G (p.Asn203Ser)	CD70 (N203S)	Single nucleotide variant (missense variant)	CD70-related disorder	GLikely benign
Select item 3042808	NM_001330332.2(CD70):c.453T>G (p.Leu151=)	CD70	Single nucleotide variant (synonymous variant)	CD70-related disorder	GLikely benign
Select item 2602445	NM_001252.5(CD70):c.574C>A (p.Arg192Ser)	CD70 (R192S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 599339	NM_001252.5(CD70):c.552CTT[1] (p.Phe186del)	CD70 (F186del)	Microsatellite (inframe_deletion +1 more)	Severe combined immunodeficiency due to CD70 deficiency	GPathogenic
Select item 599337	NM_001252.5(CD70):c.535C>T (p.Arg179Ter)	CD70 (R179*)	Single nucleotide variant (nonsense +1 more)	Severe combined immunodeficiency due to CD70 deficiency	GPathogenic
Select item 2250677	NM_001252.5(CD70):c.511C>T (p.Leu171Phe)	CD70 (L171F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2611849	NM_001252.5(CD70):c.497C>T (p.Thr166Ile)	CD70 (T166I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3047880	NM_001252.5(CD70):c.477G>A (p.Thr159=)	CD70	Single nucleotide variant (synonymous variant +1 more)	CD70-related disorder	GLikely benign
Select item 2620350	NM_001252.5(CD70):c.449G>T (p.Gly150Val)	CD70 (G150V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2672737	NM_001252.5(CD70):c.423C>T (p.Ser141=)	CD70	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2205040	NM_001252.5(CD70):c.388G>A (p.Val130Met)	CD70 (V130M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370290	NM_001252.5(CD70):c.353C>T (p.Thr118Met)	CD70 (T118M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3140660	NM_001252.5(CD70):c.352A>G (p.Thr118Ala)	CD70 (T118A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2628186	NM_001252.5(CD70):c.345C>T (p.Cys115=)	CD70	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2381067	NM_001252.5(CD70):c.290G>A (p.Arg97His)	CD70 (R97H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3140657	NM_001252.5(CD70):c.260A>G (p.His87Arg)	CD70 (H87R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 599338	NM_001252.5(CD70):c.250del (p.Ser84fs)	CD70 (S84fs)	Deletion (frameshift variant)	Severe combined immunodeficiency due to CD70 deficiency	GPathogenic
Select item 2537702	NM_001252.5(CD70):c.215G>A (p.Arg72Lys)	CD70 (R72K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3043364	NM_001252.5(CD70):c.196+7C>G	CD70, LOC130063316	Single nucleotide variant (intron variant)	CD70-related disorder	GLikely benign
Select item 2688483	NM_001252.5(CD70):c.162+63T>C	CD70	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2457917	NM_001252.5(CD70):c.103G>A (p.Val35Met)	CD70 (V35M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3140661	NM_001252.5(CD70):c.73C>A (p.Pro25Thr)	CD70, LOC130063317 (P25T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1338128	NM_001252.5(CD70):c.48G>A (p.Gly16=)	CD70, LOC130063317	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 3140658	NM_001252.5(CD70):c.26C>T (p.Ser9Leu)	CD70, LOC130063317 (S9L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2628306	NM_001252.5(CD70):c.-133G>T	CD70, LOC130063317	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	UBXN6, UHRF1 +202 more	Copy number gain	not provided	GPathogenic
Select item 2426564	NC_000019.9:g.(?_6361586)_(8212364_?)del	ARHGEF18, C3 +51 more	Deletion	Mucolipidosis type IV	GPathogenic
Select item 980754	GRCh37/hg19 19p13.3(chr19:6096399-6699729)x3	ACER1, ACSBG2 +16 more	Copy number gain	not provided	GUncertain significance
Select item 816063	GRCh37/hg19 19p13.3(chr19:6246138-6823741)x3	TNFSF14, SH2D3A +18 more	Copy number gain	not provided	GUncertain significance
Select item 816062	GRCh37/hg19 19p13.3(chr19:5949772-6699729)x3	MLLT1, ACER1 +17 more	Copy number gain	not provided	GUncertain significance
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic

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Items: 36