ClinVar for Gene (Select 5144) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246468	NC_000005.9:g.(?_58270491)_(58289312_?)dup	PDE4D	Duplication	not provided	GUncertain significance
Select item 3246467	NC_000005.9:g.(?_58480995)_(58489382_?)dup	PDE4D	Duplication	not provided	GUncertain significance
Select item 3246466	NC_000005.9:g.(?_58334666)_(58334818_?)del	PDE4D	Deletion	not provided	GUncertain significance
Select item 3236684	NM_001104631.2(PDE4D):c.665T>C (p.Ile222Thr)	PDE4D (I100T +7 more)	Single nucleotide variant (missense variant +1 more)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 3236640	NM_001104631.2(PDE4D):c.1828C>A (p.Gln610Lys)	PDE4D (Q308K +11 more)	Single nucleotide variant (missense variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 3236082	NM_001104631.2(PDE4D):c.959C>G (p.Ser320Cys)	PDE4D (S184C +11 more)	Single nucleotide variant (missense variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 3234442	NM_001104631.2(PDE4D):c.455+124862C>G	LOC126807405, PDE4D	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3210739	NM_001104631.2(PDE4D):c.769A>G (p.Met257Val)	LOC129993939, PDE4D (M121V +8 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3210738	NM_001104631.2(PDE4D):c.553A>T (p.Ser185Cys)	PDE4D (S114C +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3210737	NM_001104631.2(PDE4D):c.550C>A (p.His184Asn)	PDE4D (H184N +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3210735	NM_001104631.2(PDE4D):c.2302C>G (p.Leu768Val)	PDE4D (L466V +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3210734	NM_001104631.2(PDE4D):c.2235G>T (p.Glu745Asp)	PDE4D (E615D +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3210733	NM_001104631.2(PDE4D):c.2171A>T (p.Glu724Val)	PDE4D (E500V +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062856	GRCh37/hg19 5q11.2(chr5:58511707-58647328)x1	PDE4D	Copy number loss	not specified	GUncertain significance
Select item 3058457	NM_001104631.2(PDE4D):c.1128G>A (p.Leu376=)	PDE4D	Single nucleotide variant (synonymous variant)	PDE4D-related disorder	GLikely benign
Select item 3055216	NM_001364600.2(PDE4D):c.43-15573C>T	PDE4D	Single nucleotide variant (5 prime UTR variant +1 more)	PDE4D-related disorder	GLikely benign
Select item 3050778	NM_001349241.2(PDE4D):c.79C>A (p.Leu27Ile)	PDE4D (L27I +1 more)	Single nucleotide variant (missense variant +1 more)	PDE4D-related disorder	GLikely benign
Select item 3049398	NM_001349241.2(PDE4D):c.-2C>A	PDE4D	Single nucleotide variant (5 prime UTR variant +1 more)	PDE4D-related disorder	GLikely benign
Select item 3048598	NM_001104631.2(PDE4D):c.1250A>G (p.Asn417Ser)	PDE4D (N115S +11 more)	Single nucleotide variant (missense variant)	PDE4D-related disorder	GUncertain significance
Select item 3043673	NM_001104631.2(PDE4D):c.455+124820C>G	LOC126807405, PDE4D	Single nucleotide variant (synonymous variant +2 more)	PDE4D-related disorder	GLikely benign
Select item 3043422	NM_001104631.2(PDE4D):c.455+306789G>A	PDE4D	Single nucleotide variant (5 prime UTR variant +1 more)	PDE4D-related disorder	GLikely benign
Select item 3043414	NM_001104631.2(PDE4D):c.456-59439dup	PDE4D	Duplication (5 prime UTR variant +1 more)	PDE4D-related disorder	GLikely benign
Select item 3043312	NM_001104631.2(PDE4D):c.456-140808G>A	PDE4D (R24H)	Single nucleotide variant (missense variant +1 more)	PDE4D-related disorder	GBenign
Select item 3041388	NM_001349241.2(PDE4D):c.219T>C (p.Ala73=)	PDE4D	Single nucleotide variant (synonymous variant +1 more)	PDE4D-related disorder	GLikely benign
Select item 3038882	NM_001104631.2(PDE4D):c.809-113C>T	PDE4D	Single nucleotide variant (5 prime UTR variant +2 more)	PDE4D-related disorder	GLikely benign
Select item 3025772	NM_001104631.2(PDE4D):c.456-214391C>G	PDE4D (S20R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3024936	NM_001104631.2(PDE4D):c.808+23260C>T	PDE4D (T215M +1 more)	Single nucleotide variant (missense variant +1 more)	PDE4D-related disorder +1 more	GLikely benign
Select item 3023332	NM_001104631.2(PDE4D):c.2255G>A (p.Ser752Asn)	PDE4D (S450N +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3016372	NM_001104631.2(PDE4D):c.791A>G (p.Asn264Ser)	PDE4D (N142S +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3010337	NM_001104631.2(PDE4D):c.159C>T (p.Pro53=)	PDE4D	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3008806	NM_001104631.2(PDE4D):c.40A>C (p.Ser14Arg)	PDE4D (S14R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3003077	NM_001104631.2(PDE4D):c.808+15G>A	PDE4D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002416	NM_001104631.2(PDE4D):c.131G>C (p.Arg44Pro)	PDE4D (R44P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2998478	NM_001104631.2(PDE4D):c.148C>T (p.Leu50Phe)	PDE4D (L50F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2995637	NM_001104631.2(PDE4D):c.647+15A>C	PDE4D	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2995383	NM_001104631.2(PDE4D):c.1931G>A (p.Arg644His)	PDE4D (R353H +11 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2991879	NM_001104631.2(PDE4D):c.2307T>C (p.Cys769=)	PDE4D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990411	NM_001104631.2(PDE4D):c.1795G>A (p.Val599Ile)	PDE4D (V297I +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986841	NM_001104631.2(PDE4D):c.448C>T (p.Leu150Phe)	PDE4D (L150F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2983104	NM_001104631.2(PDE4D):c.2079C>T (p.Asp693=)	PDE4D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978764	NM_001104631.2(PDE4D):c.1911G>C (p.Arg637=)	PDE4D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976028	NM_001104631.2(PDE4D):c.651C>T (p.His217=)	PDE4D	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2973167	NM_001104631.2(PDE4D):c.746G>A (p.Arg249Gln)	PDE4D (R249Q +7 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2972265	NM_001104631.2(PDE4D):c.1338A>G (p.Thr446=)	PDE4D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972255	NM_001104631.2(PDE4D):c.488G>A (p.Arg163Gln)	PDE4D (R102Q +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2971394	NM_001104631.2(PDE4D):c.2400T>C (p.Cys800=)	PDE4D	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2965909	NM_001104631.2(PDE4D):c.345C>T (p.Tyr115=)	PDE4D	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2963616	NM_001104631.2(PDE4D):c.1495A>G (p.Ser499Gly)	PDE4D (S377G +11 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2958722	NM_001104631.2(PDE4D):c.1998C>T (p.Ser666=)	PDE4D	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2957943	NM_001104631.2(PDE4D):c.487C>T (p.Arg163Trp)	PDE4D (R102W +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2920363	NM_001104631.2(PDE4D):c.2133A>C (p.Thr711=)	PDE4D	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2907662	NM_001104631.2(PDE4D):c.54C>A (p.Ser18Arg)	PDE4D (S18R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2906806	NM_001104631.2(PDE4D):c.222GCC[6] (p.Pro80_Leu81insPro)	PDE4D	Microsatellite (inframe_indel +2 more)	not provided	GUncertain significance
Select item 2905700	NM_001104631.2(PDE4D):c.808+9G>T	PDE4D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2904305	NM_001104631.2(PDE4D):c.477A>G (p.Thr159=)	PDE4D	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2899216	NM_001104631.2(PDE4D):c.1287+9G>A	PDE4D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2895062	NM_001104631.2(PDE4D):c.260C>T (p.Pro87Leu)	PDE4D (P87L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2891960	NM_001104631.2(PDE4D):c.1189-10_1189-9dup	PDE4D	Duplication (intron variant)	not provided	GLikely benign
Select item 2885972	NM_001104631.2(PDE4D):c.1200T>C (p.Asp400=)	PDE4D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2882067	NM_001104631.2(PDE4D):c.1943G>A (p.Arg648Gln)	PDE4D (R346Q +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875298	NM_001104631.2(PDE4D):c.435C>G (p.Ser145=)	PDE4D	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2871983	NM_001104631.2(PDE4D):c.234G>A (p.Pro78=)	PDE4D	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2871122	NM_001104631.2(PDE4D):c.851T>C (p.Leu284Pro)	PDE4D (L28P +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2865874	NM_001104631.2(PDE4D):c.1015+20A>G	PDE4D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2864601	NM_001104631.2(PDE4D):c.1746G>A (p.Leu582=)	PDE4D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2863295	NM_001104631.2(PDE4D):c.2343T>C (p.Asp781=)	PDE4D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2861253	NM_001104631.2(PDE4D):c.836A>C (p.Glu279Ala)	PDE4D (E157A +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2842920	NM_001104631.2(PDE4D):c.67G>C (p.Gly23Arg)	PDE4D (G23R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2821218	NM_001104631.2(PDE4D):c.153G>A (p.Leu51=)	PDE4D	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2815284	NM_001104631.2(PDE4D):c.1904C>A (p.Thr635Lys)	PDE4D (T333K +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2814230	NM_001104631.2(PDE4D):c.205C>T (p.Pro69Ser)	PDE4D (P69S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2809758	NM_001104631.2(PDE4D):c.2177G>A (p.Gly726Asp)	PDE4D (G616D +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2800135	NM_001104631.2(PDE4D):c.455+17C>T	PDE4D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2793394	NM_001104631.2(PDE4D):c.709C>T (p.Arg237Ter)	PDE4D (R107* +7 more)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance
Select item 2788326	NM_001104631.2(PDE4D):c.2350G>C (p.Val784Leu)	PDE4D (V482L +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2787100	NM_001104631.2(PDE4D):c.609A>C (p.Pro203=)	PDE4D	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2777149	NM_001104631.2(PDE4D):c.1188+19_1188+20insG	PDE4D	Insertion (intron variant)	not provided	GLikely benign
Select item 2755372	NM_001104631.2(PDE4D):c.971G>A (p.Arg324Gln)	PDE4D (R188Q +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2754686	NM_001104631.2(PDE4D):c.1798CTT[2] (p.Leu602del)	PDE4D (L466del +11 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2754186	NM_001104631.2(PDE4D):c.1894C>T (p.Arg632Cys)	PDE4D (R330C +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2752114	NM_001104631.2(PDE4D):c.569C>A (p.Ser190Tyr)	PDE4D (S129Y +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2728016	NM_001104631.2(PDE4D):c.496T>C (p.Leu166=)	PDE4D	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2717807	NM_001104631.2(PDE4D):c.1553-7_1553-5del	PDE4D	Deletion (intron variant)	not provided	GLikely benign
Select item 2711722	NM_001104631.2(PDE4D):c.1707+8G>T	PDE4D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2708909	NM_001104631.2(PDE4D):c.701G>T (p.Arg234Leu)	PDE4D (R112L +7 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2707902	NM_001104631.2(PDE4D):c.2013+19A>C	PDE4D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2706691	NM_001104631.2(PDE4D):c.974C>T (p.Ser325Phe)	PDE4D (S189F +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2701691	NM_001104631.2(PDE4D):c.1638A>C (p.Glu546Asp)	PDE4D (E255D +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2692498	NM_001104631.2(PDE4D):c.398G>A (p.Arg133Gln)	PDE4D (R133Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2692089	NM_001104631.2(PDE4D):c.1534_1537del (p.Gln512fs)	PDE4D (Q210fs +11 more)	Microsatellite (frameshift variant)	not specified	GUncertain significance
Select item 2684417	GRCh37/hg19 5q11.2(chr5:57769864-58521876)x3	GAPT, PDE4D +1 more	Copy number gain	not provided	GUncertain significance
Select item 2681477	NM_001104631.2(PDE4D):c.2237C>T (p.Ser746Leu)	PDE4D (S444L +11 more)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2663041	NM_001104631.2(PDE4D):c.2263C>A (p.Gln755Lys)	PDE4D (Q453K +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2655477	NM_001349241.2(PDE4D):c.115C>A (p.Pro39Thr)	PDE4D (P39T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2655476	NM_001104631.2(PDE4D):c.87dup (p.Lys30fs)	PDE4D (K30fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2655475	NM_001104631.2(PDE4D):c.456-214366G>A	PDE4D (A29T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2655474	NM_001104631.2(PDE4D):c.456-214331G>A	PDE4D	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655473	NM_001104631.2(PDE4D):c.456-140846G>A	PDE4D	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655472	NM_001104631.2(PDE4D):c.1930C>T (p.Arg644Cys)	PDE4D (R342C +11 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2636796	NM_001349241.2(PDE4D):c.194C>G (p.Pro65Arg)	PDE4D (P65R +1 more)	Single nucleotide variant (missense variant +1 more)	PDE4D-related disorder	GUncertain significance

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