ClinVar for MedGen (Select 335850) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24398151.	NM_012120.3(CD2AP):c.721C>A (p.Pro241Thr) GRCh37: Chr6:47541979 GRCh38: Chr6:47574243	CD2AP	P241T	Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Dec 23, 2020)	criteria provided, single submitter
Select item 16385702.	NM_012120.3(CD2AP):c.5-20G>A GRCh37: Chr6:47470996 GRCh38: Chr6:47503260	CD2AP		not provided, Focal segmental glomerulosclerosis 3, susceptibility to	Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 15394393.	NM_012120.3(CD2AP):c.1633-8G>A GRCh37: Chr6:47576851 GRCh38: Chr6:47609115	CD2AP		not provided, Focal segmental glomerulosclerosis 3, susceptibility to	Likely benign (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 15292354.	NM_012120.3(CD2AP):c.1275-11dup GRCh37: Chr6:47567019-47567020 GRCh38: Chr6:47599283-47599284	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to, not provided	Benign/Likely benign (Sep 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 15146735.	NM_012120.3(CD2AP):c.1812C>T (p.His604=) GRCh37: Chr6:47577038 GRCh38: Chr6:47609302	CD2AP		not provided, Focal segmental glomerulosclerosis 3, susceptibility to	Likely benign (Jun 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14728856.	NM_012120.3(CD2AP):c.311T>A (p.Ile104Asn) GRCh37: Chr6:47501483 GRCh38: Chr6:47533747	CD2AP	I104N	Focal segmental glomerulosclerosis 3, susceptibility to, not provided	Uncertain significance (Mar 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14220217.	NM_012120.3(CD2AP):c.551T>C (p.Leu184Ser) GRCh37: Chr6:47541809 GRCh38: Chr6:47574073	CD2AP	L184S	Focal segmental glomerulosclerosis 3, susceptibility to, not provided	Uncertain significance (Apr 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13523918.	NM_012120.3(CD2AP):c.1756C>T (p.Leu586Phe) GRCh37: Chr6:47576982 GRCh38: Chr6:47609246	CD2AP	L586F	not provided, Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Nov 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 11791959.	NM_012120.3(CD2AP):c.1742dup (p.Asn581fs) GRCh37: Chr6:47576960-47576961 GRCh38: Chr6:47609224-47609225	CD2AP	N581fs	Focal segmental glomerulosclerosis 3, susceptibility to	Pathogenic (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 117918910.	NM_012120.3(CD2AP):c.250C>T (p.Arg84Ter) GRCh37: Chr6:47501422 GRCh38: Chr6:47533686	CD2AP	R84*	Focal segmental glomerulosclerosis 3, susceptibility to	Pathogenic (Jul 3, 2021)	criteria provided, single submitter
Select item 117002111.	NM_012120.3(CD2AP):c.636A>T (p.Arg212=) GRCh37: Chr6:47541894 GRCh38: Chr6:47574158	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to, not provided	Benign/Likely benign (Jul 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116437612.	NM_012120.3(CD2AP):c.447C>T (p.Thr149=) GRCh37: Chr6:47522408 GRCh38: Chr6:47554672	CD2AP		not provided, Focal segmental glomerulosclerosis 3, susceptibility to	Benign/Likely benign (Sep 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102776413.	NM_012120.3(CD2AP):c.180_181del (p.Glu60fs) GRCh37: Chr6:47501347-47501348 GRCh38: Chr6:47533611-47533612	CD2AP	E60fs	Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 101889114.	NM_012120.3(CD2AP):c.1488G>A (p.Met496Ile) GRCh37: Chr6:47573971 GRCh38: Chr6:47606235	CD2AP	M496I	not provided, Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 101762815.	NM_012120.3(CD2AP):c.521A>C (p.His174Pro) GRCh37: Chr6:47522482 GRCh38: Chr6:47554746	CD2AP	H174P	not provided, Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Feb 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99971916.	NM_012120.3(CD2AP):c.26A>G (p.Asp9Gly) GRCh37: Chr6:47471037 GRCh38: Chr6:47503301	CD2AP	D9G	not provided, Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (May 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93112517.	NM_012120.3(CD2AP):c.764dup (p.Ser256fs) GRCh37: Chr6:47544293-47544294 GRCh38: Chr6:47576557-47576558	CD2AP	S256fs	not provided, Focal segmental glomerulosclerosis 3, susceptibility to	Pathogenic/Likely pathogenic (May 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91166618.	NM_012120.3(CD2AP):c.*2117C>G GRCh37: Chr6:47594080 GRCh38: Chr6:47626344	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91166519.	NM_012120.3(CD2AP):c.*1918A>C GRCh37: Chr6:47593881 GRCh38: Chr6:47626145	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 91160720.	NM_012120.3(CD2AP):c.*1G>A GRCh37: Chr6:47591964 GRCh38: Chr6:47624228	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91160621.	NM_012120.3(CD2AP):c.1594C>T (p.Pro532Ser) GRCh37: Chr6:47575726 GRCh38: Chr6:47607990	CD2AP	P532S	Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91154422.	NM_012120.3(CD2AP):c.452A>G (p.Asn151Ser) GRCh37: Chr6:47522413 GRCh38: Chr6:47554677	CD2AP	N151S	Inborn genetic diseases, Focal segmental glomerulosclerosis 3, susceptibility to	Conflicting interpretations of pathogenicity (May 9, 2023)	criteria provided, conflicting interpretations
Select item 91154323.	NM_012120.3(CD2AP):c.221G>T (p.Arg74Met) GRCh37: Chr6:47501393 GRCh38: Chr6:47533657	CD2AP	R74M	Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Mar 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91154224.	NM_012120.3(CD2AP):c.182C>T (p.Thr61Met) GRCh37: Chr6:47501354 GRCh38: Chr6:47533618	CD2AP	T61M	Focal segmental glomerulosclerosis 3, susceptibility to, not provided, Inborn genetic diseases	Uncertain significance (Nov 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91154125.	NM_012120.3(CD2AP):c.165+13A>G GRCh37: Chr6:47471189 GRCh38: Chr6:47503453	CD2AP		not provided, Focal segmental glomerulosclerosis 3, susceptibility to	Benign/Likely benign (Aug 11, 2021)	criteria provided, multiple submitters, no conflicts
Select item 91044926.	NM_012120.3(CD2AP):c.*1017T>A GRCh37: Chr6:47592980 GRCh38: Chr6:47625244	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 91044827.	NM_012120.3(CD2AP):c.*762A>G GRCh37: Chr6:47592725 GRCh38: Chr6:47624989	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91044728.	NM_012120.3(CD2AP):c.*706A>G GRCh37: Chr6:47592669 GRCh38: Chr6:47624933	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91039429.	NM_012120.3(CD2AP):c.1530+12T>G GRCh37: Chr6:47574025 GRCh38: Chr6:47606289	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to, not provided	Benign (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91039330.	NM_012120.3(CD2AP):c.1164A>C (p.Pro388=) GRCh37: Chr6:47563652 GRCh38: Chr6:47595916	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91032931.	NM_012120.3(CD2AP):c.-69C>A GRCh37: Chr6:47445912 GRCh38: Chr6:47478176	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91032832.	NM_012120.3(CD2AP):c.-166A>G GRCh37: Chr6:47445815 GRCh38: Chr6:47478079	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 90957133.	NM_012120.3(CD2AP):c.*2548G>A GRCh37: Chr6:47594511 GRCh38: Chr6:47626775	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90957034.	NM_012120.3(CD2AP):c.*2470C>A GRCh37: Chr6:47594433 GRCh38: Chr6:47626697	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90951035.	NM_012120.3(CD2AP):c.*549T>C GRCh37: Chr6:47592512 GRCh38: Chr6:47624776	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90950936.	NM_012120.3(CD2AP):c.*504A>G GRCh37: Chr6:47592467 GRCh38: Chr6:47624731	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90944637.	NM_012120.3(CD2AP):c.1148C>A (p.Ala383Glu) GRCh37: Chr6:47563636 GRCh38: Chr6:47595900	CD2AP	A383E	Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90944538.	NM_012120.3(CD2AP):c.846T>C (p.Gly282=) GRCh37: Chr6:47544782 GRCh38: Chr6:47577046	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 90944439.	NM_012120.3(CD2AP):c.757A>G (p.Lys253Glu) GRCh37: Chr6:47544287 GRCh38: Chr6:47576551	CD2AP	K253E	Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90871740.	NM_012120.3(CD2AP):c.*2394A>G GRCh37: Chr6:47594357 GRCh38: Chr6:47626621	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90871641.	NM_012120.3(CD2AP):c.*2321C>G GRCh37: Chr6:47594284 GRCh38: Chr6:47626548	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90871542.	NM_012120.3(CD2AP):c.*2309T>G GRCh37: Chr6:47594272 GRCh38: Chr6:47626536	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 90865543.	NM_012120.3(CD2AP):c.*326T>A GRCh37: Chr6:47592289 GRCh38: Chr6:47624553	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 90865444.	NM_012120.3(CD2AP):c.*297T>A GRCh37: Chr6:47592260 GRCh38: Chr6:47624524	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90865345.	NM_012120.3(CD2AP):c.*166A>G GRCh37: Chr6:47592129 GRCh38: Chr6:47624393	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90865246.	NM_012120.3(CD2AP):c.*160A>G GRCh37: Chr6:47592123 GRCh38: Chr6:47624387	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 90858947.	NM_012120.3(CD2AP):c.730-7A>G GRCh37: Chr6:47544253 GRCh38: Chr6:47576517	CD2AP		not provided, Focal segmental glomerulosclerosis 3, susceptibility to	Likely benign (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90858848.	NM_012120.3(CD2AP):c.675G>A (p.Val225=) GRCh37: Chr6:47541933 GRCh38: Chr6:47574197	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90858749.	NM_012120.3(CD2AP):c.542-11T>C GRCh37: Chr6:47541789 GRCh38: Chr6:47574053	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 84728250.	NM_012120.3(CD2AP):c.730C>T (p.Pro244Ser) GRCh37: Chr6:47544260 GRCh38: Chr6:47576524	CD2AP	P244S	not provided, Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Jul 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 83002451.	NM_012120.3(CD2AP):c.670T>C (p.Ser224Pro) GRCh37: Chr6:47541928 GRCh38: Chr6:47574192	CD2AP	S224P	Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Oct 28, 2019)	no assertion criteria provided
Select item 79204152.	NM_012120.3(CD2AP):c.1035T>A (p.Ala345=) GRCh37: Chr6:47548626 GRCh38: Chr6:47580890	CD2AP		not provided, Focal segmental glomerulosclerosis 3, susceptibility to	Benign/Likely benign (Sep 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 79204053.	NM_012120.3(CD2AP):c.42T>C (p.His14=) GRCh37: Chr6:47471053 GRCh38: Chr6:47503317	CD2AP		not provided, Focal segmental glomerulosclerosis 3, susceptibility to	Benign/Likely benign (Sep 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 73863554.	NM_012120.3(CD2AP):c.1641G>A (p.Val547=) GRCh37: Chr6:47576867 GRCh38: Chr6:47609131	CD2AP		not provided, Focal segmental glomerulosclerosis 3, susceptibility to	Likely benign (Oct 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 73837755.	NM_012120.3(CD2AP):c.1696C>T (p.Pro566Ser) GRCh37: Chr6:47576922 GRCh38: Chr6:47609186	CD2AP	P566S	not provided, Focal segmental glomerulosclerosis 3, susceptibility to	Likely benign (May 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 72664956.	NM_012120.3(CD2AP):c.1014A>G (p.Pro338=) GRCh37: Chr6:47548605 GRCh38: Chr6:47580869	CD2AP		not provided, Focal segmental glomerulosclerosis 3, susceptibility to	Benign/Likely benign (May 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63548157.	NM_012120.3(CD2AP):c.1516A>G (p.Asn506Asp) GRCh37: Chr6:47573999 GRCh38: Chr6:47606263	CD2AP	N506D	Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Jan 10, 2022)	criteria provided, single submitter
Select item 63248858.	NM_012120.3(CD2AP):c.1379del (p.Asp460fs) GRCh37: Chr6:47567141 GRCh38: Chr6:47599405	CD2AP	D460fs	Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Nov 22, 2018)	criteria provided, single submitter
Select item 52252259.	NM_012120.3(CD2AP):c.1045+1G>A GRCh37: Chr6:47548637 GRCh38: Chr6:47580901	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to	Pathogenic (Oct 16, 2017)	no assertion criteria provided
Select item 40251960.	NM_012120.3(CD2AP):c.902A>T (p.Lys301Met) GRCh37: Chr6:47544838 GRCh38: Chr6:47577102	CD2AP	K301M	Focal segmental glomerulosclerosis 3, susceptibility to, not provided, not specified	Uncertain significance (Jul 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35723461.	NM_012120.3(CD2AP):c.*2759G>A GRCh37: Chr6:47594722 GRCh38: Chr6:47626986	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35723362.	NM_012120.3(CD2AP):c.*2705A>G GRCh37: Chr6:47594668 GRCh38: Chr6:47626932	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35723263.	NM_012120.3(CD2AP):c.*2449C>A GRCh37: Chr6:47594412 GRCh38: Chr6:47626676	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35723164.	NM_012120.3(CD2AP):c.*2445C>T GRCh37: Chr6:47594408 GRCh38: Chr6:47626672	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35723065.	NM_012120.3(CD2AP):c.*2369G>A GRCh37: Chr6:47594332 GRCh38: Chr6:47626596	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35722966.	NM_012120.3(CD2AP):c.*2355G>A GRCh37: Chr6:47594318 GRCh38: Chr6:47626582	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35722867.	NM_012120.3(CD2AP):c.*2339T>C GRCh37: Chr6:47594302 GRCh38: Chr6:47626566	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35722768.	NM_012120.3(CD2AP):c.*2241A>T GRCh37: Chr6:47594204 GRCh38: Chr6:47626468	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35722669.	NM_012120.3(CD2AP):c.*2232C>T GRCh37: Chr6:47594195 GRCh38: Chr6:47626459	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35722470.	NM_012120.3(CD2AP):c.*2118T>A GRCh37: Chr6:47594081 GRCh38: Chr6:47626345	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35722271.	NM_012120.3(CD2AP):c.*2039T>C GRCh37: Chr6:47594002 GRCh38: Chr6:47626266	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35722172.	NM_012120.3(CD2AP):c.*2037C>G GRCh37: Chr6:47594000 GRCh38: Chr6:47626264	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35722073.	NM_012120.3(CD2AP):c.*1927T>G GRCh37: Chr6:47593890 GRCh38: Chr6:47626154	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35721974.	NM_012120.3(CD2AP):c.*1606G>A GRCh37: Chr6:47593569 GRCh38: Chr6:47625833	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35721675.	NM_012120.3(CD2AP):c.*1208C>A GRCh37: Chr6:47593171 GRCh38: Chr6:47625435	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35721576.	NM_012120.3(CD2AP):c.*866C>T GRCh37: Chr6:47592829 GRCh38: Chr6:47625093	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35721477.	NM_012120.3(CD2AP):c.*828G>C GRCh37: Chr6:47592791 GRCh38: Chr6:47625055	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35721378.	NM_012120.3(CD2AP):c.*707G>A GRCh37: Chr6:47592670 GRCh38: Chr6:47624934	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35721279.	NM_012120.3(CD2AP):c.*652A>G GRCh37: Chr6:47592615 GRCh38: Chr6:47624879	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35721180.	NM_012120.3(CD2AP):c.*502A>G GRCh37: Chr6:47592465 GRCh38: Chr6:47624729	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35721081.	NM_012120.3(CD2AP):c.*500A>G GRCh37: Chr6:47592463 GRCh38: Chr6:47624727	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35720982.	NM_012120.3(CD2AP):c.*498A>G GRCh37: Chr6:47592461 GRCh38: Chr6:47624725	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35720883.	NM_012120.3(CD2AP):c.*496A>G GRCh37: Chr6:47592459 GRCh38: Chr6:47624723	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35719884.	NM_012120.3(CD2AP):c.*494G>A GRCh37: Chr6:47592457 GRCh38: Chr6:47624721	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35719585.	NM_012120.3(CD2AP):c.*492G>A GRCh37: Chr6:47592455 GRCh38: Chr6:47624719	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35718986.	NM_012120.3(CD2AP):c.*452C>G GRCh37: Chr6:47592415 GRCh38: Chr6:47624679	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35718287.	NM_012120.3(CD2AP):c.*319A>C GRCh37: Chr6:47592282 GRCh38: Chr6:47624546	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35718188.	NM_012120.3(CD2AP):c.*186A>T GRCh37: Chr6:47592149 GRCh38: Chr6:47624413	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35718089.	NM_012120.3(CD2AP):c.*20C>G GRCh37: Chr6:47591983 GRCh38: Chr6:47624247	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35717990.	NM_012120.3(CD2AP):c.1673C>T (p.Ala558Val) GRCh37: Chr6:47576899 GRCh38: Chr6:47609163	CD2AP	A558V	not provided, Focal segmental glomerulosclerosis 3, susceptibility to	Benign/Likely benign (Oct 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35717891.	NM_012120.3(CD2AP):c.1651A>G (p.Thr551Ala) GRCh37: Chr6:47576877 GRCh38: Chr6:47609141	CD2AP	T551A	Focal segmental glomerulosclerosis 3, susceptibility to	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35717792.	NM_012120.3(CD2AP):c.1633-6T>A GRCh37: Chr6:47576853 GRCh38: Chr6:47609117	CD2AP		not provided, Focal segmental glomerulosclerosis 3, susceptibility to	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 35717693.	NM_012120.3(CD2AP):c.1569AGA[2] (p.Glu525del) GRCh37: Chr6:47575700-47575702 GRCh38: Chr6:47607964-47607966	CD2AP	E525del	not provided, Focal segmental glomerulosclerosis	Uncertain significance (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35717594.	NM_012120.3(CD2AP):c.1531-15T>A GRCh37: Chr6:47575648 GRCh38: Chr6:47607912	CD2AP		not provided, Focal segmental glomerulosclerosis 3, susceptibility to	Benign (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35717495.	NM_012120.3(CD2AP):c.1404C>T (p.Thr468=) GRCh37: Chr6:47567166 GRCh38: Chr6:47599430	CD2AP		Focal segmental glomerulosclerosis 3, susceptibility to	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35717396.	NM_012120.3(CD2AP):c.1188C>G (p.Thr396=) GRCh37: Chr6:47563676 GRCh38: Chr6:47595940	CD2AP		not provided, Focal segmental glomerulosclerosis 3, susceptibility to	Likely benign (Feb 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35717297.	NM_012120.3(CD2AP):c.1181C>A (p.Pro394Gln) GRCh37: Chr6:47563669 GRCh38: Chr6:47595933	CD2AP	P394Q	not provided, Focal segmental glomerulosclerosis 3, susceptibility to	Benign/Likely benign (Jul 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35717198.	NM_012120.3(CD2AP):c.992T>A (p.Leu331His) GRCh37: Chr6:47547209 GRCh38: Chr6:47579473	CD2AP	L331H	not provided, Focal segmental glomerulosclerosis 3, susceptibility to	Conflicting interpretations of pathogenicity (Sep 10, 2022)	criteria provided, conflicting interpretations
Select item 35717099.	NM_012120.3(CD2AP):c.682C>T (p.Arg228Trp) GRCh37: Chr6:47541940 GRCh38: Chr6:47574204	CD2AP	R228W	not provided, Focal segmental glomerulosclerosis 3, susceptibility to	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 357169100.	NM_012120.3(CD2AP):c.553G>T (p.Ala185Ser) GRCh37: Chr6:47541811 GRCh38: Chr6:47574075	CD2AP	A185S	not provided, Focal segmental glomerulosclerosis 3, susceptibility to	Conflicting interpretations of pathogenicity (Oct 23, 2022)	criteria provided, conflicting interpretations

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