5144[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LINC02057, LINC02101 +518 more	Copy number gain	See cases	GPathogenic
Select item 57149	GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1	ACTBL2, ANKRD55 +269 more	Copy number loss	See cases	GPathogenic
Select item 144590	GRCh38/hg38 5q11.2-12.1(chr5:56947850-61725401)x3	ACTBL2, DEPDC1B +105 more	Copy number gain	See cases	GPathogenic
Select item 800723	GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1	LOC129993982, LOC129993983 +265 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 353906	NM_001104631.2(PDE4D):c.*5545C>A	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 353907	NM_001104631.2(PDE4D):c.*5413G>C	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 904060	NM_001104631.2(PDE4D):c.*5304C>T	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GBenign
Select item 353908	NM_001104631.2(PDE4D):c.*5295G>T	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 353909	NM_001104631.2(PDE4D):c.*5283A>G	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 353910	NM_001104631.2(PDE4D):c.*5260T>C	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance +1 more	GBenign
Select item 353911	NM_001104631.2(PDE4D):c.*5241T>C	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance +1 more	GBenign
Select item 904839	NM_001104631.2(PDE4D):c.*5201G>A	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 353912	NM_001104631.2(PDE4D):c.*5190A>G	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis	GUncertain significance
Select item 353913	NM_001104631.2(PDE4D):c.*5125C>T	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance +1 more	GBenign
Select item 353914	NM_001104631.2(PDE4D):c.*5118T>G	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance +1 more	GBenign
Select item 353915	NM_001104631.2(PDE4D):c.*5000A>G	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 904840	NM_001104631.2(PDE4D):c.*4981C>G	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 353916	NM_001104631.2(PDE4D):c.*4965G>T	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance +1 more	GBenign
Select item 353917	NM_001104631.2(PDE4D):c.*4915C>T	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance +1 more	GBenign
Select item 906455	NM_001104631.2(PDE4D):c.*4886A>C	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance +1 more	GUncertain significance
Select item 906456	NM_001104631.2(PDE4D):c.*4727C>G	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 906457	NM_001104631.2(PDE4D):c.*4703A>G	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 353918	NM_001104631.2(PDE4D):c.*4675G>A	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GLikely benign
Select item 353919	NM_001104631.2(PDE4D):c.*4660C>T	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GBenign
Select item 353920	NM_001104631.2(PDE4D):c.*4659T>G	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GBenign
Select item 353921	NM_001104631.2(PDE4D):c.*4622G>T	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GBenign
Select item 907449	NM_001104631.2(PDE4D):c.*4529C>T	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 907450	NM_001104631.2(PDE4D):c.*4524C>T	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 353922	NM_001104631.2(PDE4D):c.*4513C>T	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 353923	NM_001104631.2(PDE4D):c.*4398T>G	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance +1 more	GBenign
Select item 353924	NM_001104631.2(PDE4D):c.*4274ATTTT[4]	PDE4D	Microsatellite (3 prime UTR variant)	Acrodysostosis	GUncertain significance
Select item 353925	NM_001104631.2(PDE4D):c.*4039G>T	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance +1 more	GBenign
Select item 353926	NM_001104631.2(PDE4D):c.*4001C>G	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance +1 more	GBenign
Select item 904130	NM_001104631.2(PDE4D):c.*3892G>A	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 353927	NM_001104631.2(PDE4D):c.*3875G>A	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 904131	NM_001104631.2(PDE4D):c.*3863T>C	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 353928	NM_001104631.2(PDE4D):c.*3844G>A	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 353929	NM_001104631.2(PDE4D):c.3754_3755dup	PDE4D	Duplication (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 353930	NM_001104631.2(PDE4D):c.*3588A>C	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GBenign
Select item 353931	NM_001104631.2(PDE4D):c.*3562T>C	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 904132	NM_001104631.2(PDE4D):c.*3492T>G	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 904133	NM_001104631.2(PDE4D):c.*3418T>C	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 353932	NM_001104631.2(PDE4D):c.*3349T>A	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance +1 more	GBenign
Select item 904906	NM_001104631.2(PDE4D):c.*3325T>C	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 353933	NM_001104631.2(PDE4D):c.*3214T>A	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance +1 more	GBenign
Select item 904907	NM_001104631.2(PDE4D):c.*3210A>G	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 353934	NM_001104631.2(PDE4D):c.3165_3166del	PDE4D	Deletion (3 prime UTR variant)	Acrodysostosis	GUncertain significance
Select item 904908	NM_001104631.2(PDE4D):c.*3028A>G	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 353935	NM_001104631.2(PDE4D):c.*2999T>C	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 353936	NM_001104631.2(PDE4D):c.*2934G>A	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance +1 more	GBenign
Select item 906503	NM_001104631.2(PDE4D):c.*2841A>C	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 353937	NM_001104631.2(PDE4D):c.*2768T>G	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance +1 more	GBenign
Select item 353938	NM_001104631.2(PDE4D):c.*2747G>A	PDE4D	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 353940	NM_001104631.2(PDE4D):c.*2653C>T	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 353939	NM_001104631.2(PDE4D):c.*2653del	PDE4D	Deletion (3 prime UTR variant)	Acrodysostosis	GBenign
Select item 906504	NM_001104631.2(PDE4D):c.*2604A>C	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 353941	NM_001104631.2(PDE4D):c.*2515A>T	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance +1 more	GBenign
Select item 907511	NM_001104631.2(PDE4D):c.*2510C>T	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GBenign
Select item 353942	NM_001104631.2(PDE4D):c.*2484T>C	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance +1 more	GBenign
Select item 353943	NM_001104631.2(PDE4D):c.*2383G>A	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 353944	NM_001104631.2(PDE4D):c.*2369G>A	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 907512	NM_001104631.2(PDE4D):c.*2336T>G	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GBenign
Select item 353945	NM_001104631.2(PDE4D):c.*2329G>A	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GBenign
Select item 353946	NM_001104631.2(PDE4D):c.*2288A>G	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance +1 more	GBenign
Select item 353947	NM_001104631.2(PDE4D):c.*2279G>T	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance +1 more	GBenign
Select item 353948	NM_001104631.2(PDE4D):c.2242_2243del	PDE4D	Deletion (3 prime UTR variant)	Acrodysostosis	GLikely benign
Select item 904185	NM_001104631.2(PDE4D):c.*2225C>T	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 904186	NM_001104631.2(PDE4D):c.*2198C>T	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 904187	NM_001104631.2(PDE4D):c.*2185T>G	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 353949	NM_001104631.2(PDE4D):c.*2166del	PDE4D	Deletion (3 prime UTR variant)	Acrodysostosis	GUncertain significance
Select item 353950	NM_001104631.2(PDE4D):c.*2100C>T	PDE4D	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 904188	NM_001104631.2(PDE4D):c.*2066T>C	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GBenign
Select item 353951	NM_001104631.2(PDE4D):c.*2028TAGA[3]	PDE4D	Microsatellite (3 prime UTR variant)	Acrodysostosis	GUncertain significance
Select item 353952	NM_001104631.2(PDE4D):c.*2004C>A	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 353953	NM_001104631.2(PDE4D):c.*2003T>C	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 353954	NM_001104631.2(PDE4D):c.*1938C>T	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance +1 more	GBenign
Select item 353955	NM_001104631.2(PDE4D):c.*1924T>C	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 904968	NM_001104631.2(PDE4D):c.*1850T>C	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GBenign
Select item 353956	NM_001104631.2(PDE4D):c.*1774TATT[1]	PDE4D	Microsatellite (3 prime UTR variant)	Acrodysostosis	GBenign
Select item 904969	NM_001104631.2(PDE4D):c.*1778T>C	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 353957	NM_001104631.2(PDE4D):c.*1773A>G	PDE4D	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 904970	NM_001104631.2(PDE4D):c.*1729G>C	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 353958	NM_001104631.2(PDE4D):c.*1649C>T	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 353959	NM_001104631.2(PDE4D):c.*1638G>A	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance +1 more	GBenign
Select item 904971	NM_001104631.2(PDE4D):c.*1637C>T	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GBenign
Select item 353960	NM_001104631.2(PDE4D):c.1634_1635dup	PDE4D	Duplication (3 prime UTR variant)	Acrodysostosis	GLikely benign
Select item 906554	NM_001104631.2(PDE4D):c.*1572A>G	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 353961	NM_001104631.2(PDE4D):c.1459_1463dup	PDE4D	Duplication (3 prime UTR variant)	Acrodysostosis	GBenign
Select item 353962	NM_001104631.2(PDE4D):c.*1446T>C	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 353963	NM_001104631.2(PDE4D):c.*1379A>G	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 353964	NM_001104631.2(PDE4D):c.*1361C>T	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GBenign
Select item 353965	NM_001104631.2(PDE4D):c.*1323A>T	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GBenign
Select item 906555	NM_001104631.2(PDE4D):c.*1295G>A	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 353966	NM_001104631.2(PDE4D):c.*1278C>T	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 353967	NM_001104631.2(PDE4D):c.*1268T>C	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 353968	NM_001104631.2(PDE4D):c.*1251A>G	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance +1 more	GBenign
Select item 353969	NM_001104631.2(PDE4D):c.*1201A>T	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis	GLikely benign
Select item 353970	NM_001104631.2(PDE4D):c.*1200T>A	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis	GLikely benign
Select item 353971	NM_001104631.2(PDE4D):c.*1034C>T	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance

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