ClinVar for Gene (Select 5141) - ClinVar

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Links from Gene

Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3305391	NM_001111307.2(PDE4A):c.2192A>T (p.Gln731Leu)	PDE4A (Q492L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305390	NM_001111307.2(PDE4A):c.2155G>C (p.Glu719Gln)	PDE4A (E697Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305389	NM_001111307.2(PDE4A):c.2293G>A (p.Ala765Thr)	PDE4A (A704T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305388	NM_001111307.2(PDE4A):c.2098C>A (p.His700Asn)	PDE4A (H678N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305387	NM_001111307.2(PDE4A):c.2506C>T (p.Leu836Phe)	PDE4A (L775F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305386	NM_001111307.2(PDE4A):c.968C>G (p.Pro323Arg)	PDE4A (P262R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305385	NM_001111307.2(PDE4A):c.2501C>T (p.Pro834Leu)	PDE4A (P595L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248458	NC_000019.9:g.(?_10461510)_(10941723_?)dup	AP1M2, ATG4D +12 more	Duplication	Immunodeficiency 35	GUncertain significance
Select item 3248456	NC_000019.9:g.(?_10244343)_(10610709_?)del	CDC37, DNMT1 +12 more	Deletion	Immunodeficiency 35	GPathogenic
Select item 3248376	NC_000019.9:g.(?_10244343)_(11231218_?)del	AP1M2, ATG4D +29 more	Deletion	Familial hypercholesterolemia	GPathogenic
Select item 3210710	NM_001111307.2(PDE4A):c.944G>A (p.Arg315Gln)	PDE4A (R315Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210709	NM_001111307.2(PDE4A):c.2635G>A (p.Gly879Arg)	PDE4A (G857R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210705	NM_001111307.2(PDE4A):c.2590G>A (p.Gly864Arg)	PDE4A (G838R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210704	NM_001111307.2(PDE4A):c.2581G>A (p.Ala861Thr)	PDE4A (A800T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210703	NM_001111307.2(PDE4A):c.2570G>C (p.Arg857Thr)	PDE4A (R618T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210702	NM_001111307.2(PDE4A):c.2528C>T (p.Ala843Val)	PDE4A (A821V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210701	NM_001111307.2(PDE4A):c.2273A>G (p.Gln758Arg)	PDE4A (Q758R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210700	NM_001111307.2(PDE4A):c.2246C>A (p.Thr749Asn)	PDE4A (T510N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210699	NM_001111307.2(PDE4A):c.2230G>C (p.Glu744Gln)	PDE4A (E718Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210698	NM_001111307.2(PDE4A):c.2229G>C (p.Glu743Asp)	PDE4A (E717D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210697	NM_001111307.2(PDE4A):c.1652C>T (p.Thr551Ile)	PDE4A (T490I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210696	NM_001111307.2(PDE4A):c.1568A>G (p.Gln523Arg)	PDE4A (Q497R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210695	NM_001111307.2(PDE4A):c.1445A>G (p.Asn482Ser)	PDE4A (N460S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062391	GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1	MIR199A1, ODAD3 +87 more	Copy number loss	not specified	GPathogenic
Select item 2684884	GRCh37/hg19 19p13.2(chr19:10477778-11154144)x3	AP1M2, ATG4D +18 more	Copy number gain	not provided	GUncertain significance
Select item 2681476	NM_001111307.2(PDE4A):c.975T>C (p.Pro325=)	PDE4A	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2649292	NM_001111307.2(PDE4A):c.741C>T (p.Thr247=)	PDE4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2601734	NM_001111307.2(PDE4A):c.892G>A (p.Val298Met)	PDE4A (V237M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533532	NM_001111307.2(PDE4A):c.2483C>T (p.Ser828Phe)	PDE4A (S589F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477069	NM_001111307.2(PDE4A):c.1915G>C (p.Glu639Gln)	PDE4A (E613Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461649	NM_001111307.2(PDE4A):c.2249T>C (p.Ile750Thr)	PDE4A (I689T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408993	NM_001111307.2(PDE4A):c.1783C>G (p.Pro595Ala)	PDE4A (P569A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408724	NM_001111307.2(PDE4A):c.1282G>A (p.Ala428Thr)	PDE4A (A402T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399810	NM_001111307.2(PDE4A):c.2614G>A (p.Ala872Thr)	PDE4A (A811T +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2391809	NM_001111307.2(PDE4A):c.1262C>T (p.Thr421Met)	PDE4A (T395M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375353	NM_001111307.2(PDE4A):c.968C>T (p.Pro323Leu)	PDE4A (P297L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329559	NM_001111307.2(PDE4A):c.2645G>A (p.Gly882Asp)	PDE4A (G860D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324950	NM_001111307.2(PDE4A):c.2438C>T (p.Ala813Val)	PDE4A (A752V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295512	NM_001111307.2(PDE4A):c.566G>A (p.Arg189Gln)	PDE4A (R163Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291004	NM_001111307.2(PDE4A):c.2573C>A (p.Ala858Asp)	PDE4A (A797D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291003	NM_001111307.2(PDE4A):c.2572G>A (p.Ala858Thr)	PDE4A (A619T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290872	NM_001111307.2(PDE4A):c.1339G>A (p.Val447Ile)	PDE4A (V447I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280632	NM_001111307.2(PDE4A):c.911C>T (p.Thr304Met)	PDE4A (T243M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250239	NM_001111307.2(PDE4A):c.34C>G (p.Leu12Val)	LOC130063497, PDE4A (L12V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247213	NM_001111307.2(PDE4A):c.572T>C (p.Val191Ala)	PDE4A (V130A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244377	NM_001111307.2(PDE4A):c.1751G>A (p.Arg584Gln)	PDE4A (R345Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1340718	GRCh37/hg19 19p13.2(chr19:9941033-11739567)x3	ACP5, ANGPTL6 +59 more	Copy number gain	not provided	GUncertain significance
Select item 1206322	NM_001243121.2(PDE4A):c.89T>A (p.Leu30Gln)	PDE4A (L30Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1206111	NM_001111307.2(PDE4A):c.2135C>T (p.Thr712Met)	PDE4A (T473M +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 783825	NM_001111307.2(PDE4A):c.2195A>G (p.Glu732Gly)	PDE4A (E671G +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 783824	NM_001111307.2(PDE4A):c.1824C>T (p.Arg608=)	PDE4A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 783823	NM_001111307.2(PDE4A):c.1770C>T (p.Ala590=)	PDE4A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 769956	NM_001111307.2(PDE4A):c.837C>T (p.Ser279=)	PDE4A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 768972	NM_001111307.2(PDE4A):c.783+4T>G	PDE4A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 768971	NM_001111307.2(PDE4A):c.60G>C (p.Arg20=)	LOC130063497, PDE4A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 735288	NM_001111307.2(PDE4A):c.2051G>A (p.Arg684Gln)	PDE4A (R445Q +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 735287	NM_001111307.2(PDE4A):c.1176C>T (p.Thr392=)	PDE4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 723426	NM_001111307.2(PDE4A):c.2280G>C (p.Ser760=)	PDE4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 713585	NM_001111307.2(PDE4A):c.1113C>T (p.Asn371=)	PDE4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 710380	NM_001111307.2(PDE4A):c.51C>T (p.Pro17=)	LOC130063497, PDE4A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 688450	GRCh37/hg19 19p13.2(chr19:10441330-10977962)x1	CDKN2D, DNM2 +16 more	Copy number loss	not provided	GUncertain significance
Select item 445369	NM_001111307.2(PDE4A):c.991C>T (p.Pro331Ser)	PDE4A (P309S +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic
Select item 394483	GRCh37/hg19 19p13.2(chr19:10286133-11040457)x1	AP1M2, ATG4D +27 more	Copy number loss	See cases	GPathogenic
Select item 153250	GRCh38/hg38 19p13.2(chr19:10330655-10920552)x1	AP1M2, ATG4D +84 more	Copy number loss	See cases	GLikely pathogenic
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 more	Copy number loss	See cases	GPathogenic
Select item 147570	GRCh38/hg38 19p13.2(chr19:10156406-10889688)x3	LOC130063493, LOC130063494 +116 more	Copy number gain	See cases	GPathogenic
Select item 146077	GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1	PPAN, PPAN-P2RY11 +184 more	Copy number loss	See cases	GPathogenic
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic

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Links from Gene

Items: 72