PDE5A[gene] - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	LOC129993132, LOC129993133 +420 more	Copy number loss	See cases	GPathogenic
Select item 155140	GRCh38/hg38 4q26-28.3(chr4:117351881-133565667)x1	ABHD18, ADAD1 +254 more	Copy number loss	See cases	GPathogenic
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 149894	GRCh38/hg38 4q26-27(chr4:118360303-120924156)x1	C4orf3, FABP2 +48 more	Copy number loss	See cases	GPathogenic
Select item 150371	GRCh38/hg38 4q26(chr4:118858868-119856165)x3	C4orf3, FABP2 +22 more	Copy number gain	See cases	GLikely benign
Select item 60197	GRCh38/hg38 4q26-27(chr4:119471669-120176948)x1	LINC01365, LINC02502 +11 more	Copy number loss	See cases	GUncertain significance
Select item 2511000	NM_001083.4(PDE5A):c.2596A>G (p.Asn866Asp)	PDE5A (N856D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722286	NM_001083.4(PDE5A):c.2490+3_2490+5dup	PDE5A	Duplication (splice donor variant)	not provided	GBenign
Select item 786047	NM_001083.4(PDE5A):c.2424G>A (p.Glu808=)	PDE5A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3210748	NM_001083.4(PDE5A):c.2404A>T (p.Thr802Ser)	PDE5A (T760S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719486	NM_001083.4(PDE5A):c.2380A>C (p.Arg794=)	PDE5A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2247214	NM_001083.4(PDE5A):c.2377G>A (p.Glu793Lys)	PDE5A (E783K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376966	NM_001083.4(PDE5A):c.2351C>G (p.Thr784Ser)	PDE5A (T742S +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 779419	NM_001083.4(PDE5A):c.2333T>C (p.Ile778Thr)	PDE5A (I726T +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2398246	NM_001083.4(PDE5A):c.2320A>G (p.Ile774Val)	PDE5A (I774V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708681	NM_001083.4(PDE5A):c.2219G>A (p.Arg740Lys)	PDE5A (R688K +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 777148	NM_001083.4(PDE5A):c.2190-4G>A	PDE5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 789729	NM_001083.4(PDE5A):c.2013A>C (p.Pro671=)	PDE5A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2655054	NM_001083.4(PDE5A):c.2010T>C (p.His670=)	PDE5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 760312	NM_001083.4(PDE5A):c.1962T>C (p.Asp654=)	PDE5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3210747	NM_001083.4(PDE5A):c.1943T>C (p.Ile648Thr)	PDE5A (I606T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 729052	NM_001083.4(PDE5A):c.1922T>C (p.Leu641Pro)	PDE5A (L641P +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2321662	NM_001083.4(PDE5A):c.1790G>A (p.Arg597Lys)	PDE5A (R555K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295453	NM_001083.4(PDE5A):c.1757A>G (p.Gln586Arg)	PDE5A (Q576R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305403	NM_001083.4(PDE5A):c.1634C>T (p.Ala545Val)	PDE5A (A493V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210746	NM_001083.4(PDE5A):c.1455C>A (p.Asn485Lys)	PDE5A (N485K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724466	NM_001083.4(PDE5A):c.1438A>C (p.Lys480Gln)	PDE5A (K428Q +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 779420	NM_001083.4(PDE5A):c.1425G>A (p.Glu475=)	PDE5A	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2287193	NM_001083.4(PDE5A):c.1408C>A (p.Leu470Ile)	PDE5A (L428I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617729	NM_001083.4(PDE5A):c.1361C>T (p.Thr454Ile)	PDE5A (T402I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331180	NM_001083.4(PDE5A):c.1333C>G (p.Gln445Glu)	PDE5A (Q393E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210744	NM_001083.4(PDE5A):c.1324A>G (p.Asn442Asp)	PDE5A (N390D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210743	NM_001083.4(PDE5A):c.1303T>C (p.Trp435Arg)	PDE5A (W435R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341067	NM_001083.4(PDE5A):c.1271T>G (p.Ile424Ser)	PDE5A (I372S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210742	NM_001083.4(PDE5A):c.1196C>T (p.Thr399Ile)	PDE5A (T347I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305405	NM_001083.4(PDE5A):c.1111A>G (p.Ile371Val)	PDE5A (I319V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655055	NM_001083.4(PDE5A):c.1071T>A (p.Thr357=)	PDE5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2353566	NM_001083.4(PDE5A):c.1067C>T (p.Ala356Val)	PDE5A (A314V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210741	NM_001083.4(PDE5A):c.1019T>C (p.Ile340Thr)	PDE5A (I298T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237436	NM_001083.4(PDE5A):c.1010C>G (p.Ala337Gly)	PDE5A (A285G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210755	NM_001083.4(PDE5A):c.961G>A (p.Glu321Lys)	PDE5A (E269K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210754	NM_001083.4(PDE5A):c.874G>A (p.Gly292Ser)	PDE5A (G292S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210753	NM_001083.4(PDE5A):c.845C>T (p.Ala282Val)	PDE5A (A240V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 750553	NM_001083.4(PDE5A):c.822T>C (p.His274=)	PDE5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3305404	NM_001083.4(PDE5A):c.704C>T (p.Ala235Val)	PDE5A (A235V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455704	NM_001083.4(PDE5A):c.665G>A (p.Arg222His)	PDE5A (R170H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210752	NM_001083.4(PDE5A):c.638T>C (p.Leu213Pro)	PDE5A (L161P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387689	NM_001083.4(PDE5A):c.410C>A (p.Thr137Asn)	PDE5A (T85N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210751	NM_001083.4(PDE5A):c.382T>C (p.Ser128Pro)	PDE5A (S76P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716823	NM_001083.4(PDE5A):c.356A>T (p.Glu119Val)	PDE5A (E67V +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3210750	NM_001083.4(PDE5A):c.274A>G (p.Ser92Gly)	PDE5A (S40G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598229	NM_001083.4(PDE5A):c.268G>A (p.Asp90Asn)	PDE5A (D48N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210749	NM_001083.4(PDE5A):c.263G>A (p.Arg88His)	PDE5A (R88H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246593	NM_001083.4(PDE5A):c.232T>A (p.Ser78Thr)	PDE5A (S26T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238768	NM_001083.4(PDE5A):c.97T>C (p.Trp33Arg)	LOC107986192, PDE5A (W33R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685988	GRCh37/hg19 4q26-27(chr4:120455848-121008760)x3	MAD2L1, PDE5A	Copy number gain	not provided	GUncertain significance
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	SPOCK3, SPRY1 +153 more	Copy number gain	not provided	GPathogenic
Select item 2685128	GRCh37/hg19 4q26(chr4:120359290-120786398)x1	PDE5A	Copy number loss	not provided	GUncertain significance
Select item 1527120	GRCh37/hg19 4q26-27(chr4:119902254-121463237)	C4orf3, FABP2 +5 more	Copy number gain	not specified	GUncertain significance
Select item 1527119	GRCh37/hg19 4q26-28.2(chr4:116888785-129649979)	ABHD18, ADAD1 +40 more	Copy number loss	not specified	GPathogenic
Select item 1527114	GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	ABHD18, ADAD1 +123 more	Copy number gain	not specified	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 1328453	GRCh37/hg19 4q26-28.3(chr4:114872547-138005267)x1	TNIP3, TRPC3 +48 more	Copy number loss	not provided	GPathogenic
Select item 1047888	GRCh37/hg19 4q26-28.2(chr4:116833638-130232122)	MAD2L1, METTL14 +43 more	Copy number loss	Delayed speech and language development +1 more	GPathogenic
Select item 980129	GRCh37/hg19 4q26(chr4:120428308-120695618)x3	PDE5A	Copy number gain	not provided	GLikely benign
Select item 686282	GRCh37/hg19 4q26-27(chr4:120418423-120991396)x1	MAD2L1, PDE5A	Copy number loss	not provided	GUncertain significance
Select item 685104	GRCh37/hg19 4q26(chr4:120399755-120517491)x1	PDE5A	Copy number loss	not provided	GUncertain significance
Select item 635942	Single allele	SMIM43, SNHG8 +31 more	Deletion	Neurodevelopmental disorder	GLikely pathogenic
Select item 562964	GRCh37/hg19 4q26(chr4:120003576-120689244)x3	PDE5A, C4orf3 +3 more	Copy number gain	not provided	GLikely benign
Select item 562959	GRCh37/hg19 4q26-28.2(chr4:116307857-129302960)x1	ABHD18, ADAD1 +40 more	Copy number loss	not provided	GPathogenic
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	CFAP97, CFI +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	SCOC, SCRG1 +218 more	Copy number gain	See cases	GPathogenic

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Items: 79