ClinVar for Gene (Select 5154) - ClinVar

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Links from Gene

Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3305444	NM_033023.5(PDGFA):c.404C>G (p.Thr135Arg)	PDGFA (T138R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3252077	NM_033023.5(PDGFA):c.360G>A (p.Trp120Ter)	PDGFA (W120* +3 more)	Single nucleotide variant (nonsense +1 more)	Hepatic fibrosis +2 more	GUncertain significance
Select item 3245722	NC_000007.13:g.(?_288261)_(912968_?)del	PDGFA, PRKAR1B +3 more	Deletion	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 3210821	NM_033023.5(PDGFA):c.447C>G (p.Ser149Arg)	PDGFA (S149R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210820	NM_033023.5(PDGFA):c.202G>T (p.Val68Phe)	PDGFA (V81F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062959	GRCh37/hg19 7p22.3(chr7:43360-2020306)x1	ADAP1, C7orf50 +19 more	Copy number loss	not specified	GPathogenic
Select item 2684471	GRCh37/hg19 7p22.3(chr7:107550-839715)x3	DNAAF5, FAM20C +2 more	Copy number gain	not provided	GUncertain significance
Select item 2684470	GRCh37/hg19 7p22.3-22.1(chr7:43361-5965440)x3	RNF216, SDK1 +48 more	Copy number gain	not provided	GPathogenic
Select item 2684469	GRCh37/hg19 7p22.3-21.3(chr7:43361-8890475)x3	PSMG3, RAC1 +73 more	Copy number gain	not provided	GPathogenic
Select item 2537842	NM_033023.5(PDGFA):c.565C>T (p.Arg189Trp)	PDGFA (R192W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523318	NM_033023.5(PDGFA):c.72G>C (p.Glu24Asp)	PDGFA (E27D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461180	NM_033023.5(PDGFA):c.232C>T (p.Arg78Trp)	PDGFA (R81W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2426527	NC_000007.13:g.(?_193200)_(1498962_?)del	FAM20C, GET4 +13 more	Deletion	not provided	GPathogenic
Select item 2359423	NM_033023.5(PDGFA):c.532G>A (p.Ala178Thr)	PDGFA (A181T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2325470	NM_033023.5(PDGFA):c.580+620G>A	PDGFA (R195K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304491	NM_033023.5(PDGFA):c.545C>T (p.Thr182Ile)	PDGFA (T182I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283145	NM_033023.5(PDGFA):c.187C>A (p.Leu63Met)	PDGFA (L108M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262182	NM_033023.5(PDGFA):c.142C>A (p.Leu48Met)	PDGFA (L61M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240251	NM_033023.5(PDGFA):c.580+632C>T	PDGFA (S199L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223547	NM_033023.5(PDGFA):c.111G>C (p.Gln37His)	PDGFA (D84H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809235	GRCh37/hg19 7p22.3(chr7:43361-704573)x3	FAM20C, PDGFA +1 more	Copy number gain	not provided	GUncertain significance
Select item 1711132	GRCh37/hg19 7p22.3-21.3(chr7:43360-9649794)x3	MAD1L1, MAFK +73 more	Copy number gain	See cases	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1708194	GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3	ACTB, ADAP1 +98 more	Copy number gain	See cases	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 816483	GRCh37/hg19 7p22.3(chr7:44935-1750797)x1	TMEM184A, GET4 +18 more	Copy number loss	See cases	GPathogenic
Select item 814911	GRCh37/hg19 7p22.3(chr7:43360-1648288)x1	INTS1, ZFAND2A +17 more	Copy number loss	not provided	GPathogenic
Select item 791280	NM_033023.5(PDGFA):c.125G>A (p.Arg42Gln)	PDGFA (R42Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 785203	NM_033023.5(PDGFA):c.510G>A (p.Arg170=)	PDGFA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688582	GRCh37/hg19 7p22.3-22.2(chr7:36616-4298168)x1	ADAP1, AMZ1 +32 more	Copy number loss	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 687401	GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3	ACTB, ADAP1 +98 more	Copy number gain	not provided	GPathogenic
Select item 443916	GRCh37/hg19 7p22.3-22.2(chr7:43360-3642604)x1	ADAP1, AMZ1 +32 more	Copy number loss	See cases	GPathogenic
Select item 443817	GRCh37/hg19 7p22.3(chr7:43360-2057743)x1	ADAP1, C7orf50 +19 more	Copy number loss	See cases	GLikely pathogenic
Select item 443071	GRCh37/hg19 7p22.3-21.3(chr7:43360-12098696)x3	ACTB, ADAP1 +76 more	Copy number gain	See cases	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442624	GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3	ABCB5, ACTB +121 more	Copy number gain	See cases	GPathogenic
Select item 442503	GRCh37/hg19 7p22.3-21.3(chr7:43360-11567351)x3	DAGLB, DNAAF5 +76 more	Copy number gain	See cases	GPathogenic
Select item 442159	GRCh37/hg19 7p22.3-21.2(chr7:43360-14664158)x3	ACTB, ADAP1 +82 more	Copy number gain	See cases	GPathogenic
Select item 393941	GRCh37/hg19 7p22.3-21.3(chr7:183556-12746636)x3	TNRC18, TTYH3 +80 more	Copy number gain	See cases	GPathogenic
Select item 160967	GRCh38/hg38 7p22.3(chr7:54185-1843584)x1	ADAP1, C7orf50 +140 more	Copy number loss	See cases	GPathogenic
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 155274	GRCh38/hg38 7p22.3(chr7:45130-1298050)x1	ADAP1, C7orf50 +102 more	Copy number loss	See cases	GUncertain significance
Select item 155108	GRCh38/hg38 7p22.3-22.2(chr7:45130-3406236)x3	ADAP1, AMZ1 +246 more	Copy number gain	See cases	GUncertain significance
Select item 154928	GRCh38/hg38 7p22.3-22.2(chr7:54165-3258775)x1	LOC126859917, LOC126859918 +245 more	Copy number loss	See cases	GPathogenic
Select item 149904	GRCh38/hg38 7p22.3(chr7:54165-725325)x1	FAM20C, FOXL3 +33 more	Copy number loss	See cases	GPathogenic
Select item 149320	GRCh38/hg38 7p22.3(chr7:45130-821632)x1	LOC101929756, LOC105375113 +45 more	Copy number loss	See cases	GUncertain significance
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 148450	GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3	ACTB, ADAP1 +439 more	Copy number gain	See cases	GPathogenic
Select item 148079	GRCh38/hg38 7p22.3(chr7:54185-1331046)x1	LOC129997768, LOC132089513 +102 more	Copy number loss	See cases	GUncertain significance
Select item 147625	GRCh38/hg38 7p22.3-22.2(chr7:54185-3324143)x1	ADAP1, AMZ1 +246 more	Copy number loss	See cases	GPathogenic
Select item 147563	GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3	ACTB, ADAP1 +418 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 144710	GRCh38/hg38 7p22.3(chr7:54185-1206119)x3	ADAP1, C7orf50 +97 more	Copy number gain	See cases	GUncertain significance
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 59675	GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3	BRAT1, ACTB +381 more	Copy number gain	See cases	GPathogenic
Select item 58496	GRCh38/hg38 7p22.3(chr7:54185-1441125)x1	ADAP1, C7orf50 +108 more	Copy number loss	See cases	GPathogenic
Select item 58492	GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1	ACTB, ADAP1 +357 more	Copy number loss	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 32434	GRCh38/hg38 7p22.3(chr7:54185-1843584)x1	ADAP1, C7orf50 +140 more	Copy number loss	See cases	GPathogenic

ClinVar

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Germline classification

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Links from Gene

Items: 62