ClinVar for Gene (Select 23607) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3264798	NM_012120.3(CD2AP):c.1070C>T (p.Ala357Val)	CD2AP (A357V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3246214	NC_000006.11:g.(?_47564630)_(47567630_?)del	CD2AP	Deletion	not provided	GPathogenic
Select item 3140501	NM_012120.3(CD2AP):c.68G>C (p.Gly23Ala)	CD2AP (G23A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3140500	NM_012120.3(CD2AP):c.635G>A (p.Arg212Gln)	CD2AP (R212Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3140499	NM_012120.3(CD2AP):c.283A>G (p.Ile95Val)	CD2AP (I95V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3140498	NM_012120.3(CD2AP):c.23A>G (p.Tyr8Cys)	CD2AP (Y8C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3140497	NM_012120.3(CD2AP):c.1835G>A (p.Arg612Gln)	CD2AP (R612Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3140496	NM_012120.3(CD2AP):c.1786A>G (p.Ile596Val)	CD2AP (I596V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3140495	NM_012120.3(CD2AP):c.1675A>G (p.Asn559Asp)	CD2AP (N559D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3140494	NM_012120.3(CD2AP):c.1540A>G (p.Ser514Gly)	CD2AP (S514G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068616	NM_012120.3(CD2AP):c.1704A>C (p.Glu568Asp)	CD2AP (E568D)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 3066210	NM_012120.3(CD2AP):c.1108+1G>T	CD2AP	Single nucleotide variant (splice donor variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GLikely pathogenic
Select item 3065595	NM_012120.3(CD2AP):c.30T>G (p.Tyr10Ter)	CD2AP (Y10*)	Single nucleotide variant (nonsense)	Focal segmental glomerulosclerosis 3, susceptibility to	GLikely pathogenic
Select item 3065370	NM_012120.3(CD2AP):c.1022C>T (p.Pro341Leu)	CD2AP (P341L)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 3031207	NM_012120.3(CD2AP):c.1407C>T (p.Ser469=)	CD2AP	Single nucleotide variant (synonymous variant)	CD2AP-related disorder	GLikely benign
Select item 3013945	NM_012120.3(CD2AP):c.1438A>G (p.Ile480Val)	CD2AP (I480V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989503	NM_012120.3(CD2AP):c.861A>T (p.Glu287Asp)	CD2AP (E287D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970781	NM_012120.3(CD2AP):c.578C>T (p.Ser193Phe)	CD2AP (S193F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969694	NM_012120.3(CD2AP):c.5T>G (p.Val2Gly)	CD2AP (V2G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957422	NM_012120.3(CD2AP):c.729+7A>G	CD2AP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2888584	NM_012120.3(CD2AP):c.1099G>A (p.Glu367Lys)	CD2AP (E367K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875482	NM_012120.3(CD2AP):c.1268T>C (p.Ile423Thr)	CD2AP (I423T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2866285	NM_012120.3(CD2AP):c.978C>T (p.Val326=)	CD2AP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2864611	NM_012120.3(CD2AP):c.1636T>C (p.Ser546Pro)	CD2AP (S546P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2842579	NM_012120.3(CD2AP):c.373G>A (p.Asp125Asn)	CD2AP (D125N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2835588	NM_012120.3(CD2AP):c.1210TCT[1] (p.Ser405del)	CD2AP (S405del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2805550	NM_012120.3(CD2AP):c.474C>T (p.Pro158=)	CD2AP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2795972	NM_012120.3(CD2AP):c.916G>A (p.Ala306Thr)	CD2AP (A306T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2795883	NM_012120.3(CD2AP):c.1045+7A>G	CD2AP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2779740	NM_012120.3(CD2AP):c.1746C>T (p.Ser582=)	CD2AP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2778563	NM_012120.3(CD2AP):c.363A>G (p.Pro121=)	CD2AP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2761619	NM_012120.3(CD2AP):c.844G>A (p.Gly282Ser)	CD2AP (G282S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2745660	NM_012120.3(CD2AP):c.1879-16A>C	CD2AP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2730169	NM_012120.3(CD2AP):c.1046-7C>G	CD2AP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2720685	NM_012120.3(CD2AP):c.261C>G (p.Thr87=)	CD2AP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2706844	NM_012120.3(CD2AP):c.1329A>G (p.Ser443=)	CD2AP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656634	NM_012120.3(CD2AP):c.29A>G (p.Tyr10Cys)	CD2AP (Y10C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2636719	NM_012120.3(CD2AP):c.304A>G (p.Lys102Glu)	CD2AP (K102E)	Single nucleotide variant (missense variant)	CD2AP-related disorder	GUncertain significance
Select item 2633918	NM_012120.3(CD2AP):c.9C>G (p.Asp3Glu)	CD2AP (D3E)	Single nucleotide variant (missense variant)	CD2AP-related disorder	GUncertain significance
Select item 2633510	NM_012120.3(CD2AP):c.1193_1196del (p.Ala398fs)	CD2AP (A398fs)	Deletion (frameshift variant)	CD2AP-related disorder	GLikely pathogenic
Select item 2631173	NM_012120.3(CD2AP):c.313_314inv (p.Lys105Leu)	CD2AP (K105L)	Inversion (missense variant)	CD2AP-related disorder	GUncertain significance
Select item 2630514	NM_012120.3(CD2AP):c.439A>G (p.Ser147Gly)	CD2AP (S147G)	Single nucleotide variant (missense variant)	CD2AP-related disorder	GUncertain significance
Select item 2628767	NM_012120.3(CD2AP):c.715A>G (p.Lys239Glu)	CD2AP (K239E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2623335	NM_012120.3(CD2AP):c.775A>G (p.Ile259Val)	CD2AP (I259V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2621918	NM_012120.3(CD2AP):c.221G>C (p.Arg74Thr)	CD2AP (R74T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619433	NM_012120.3(CD2AP):c.1517A>G (p.Asn506Ser)	CD2AP (N506S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610057	NM_012120.3(CD2AP):c.1637C>G (p.Ser546Cys)	CD2AP (S546C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2575992	NM_012120.3(CD2AP):c.1546G>A (p.Glu516Lys)	CD2AP (E516K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2555476	NM_012120.3(CD2AP):c.1820A>G (p.Glu607Gly)	CD2AP (E607G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2439815	NM_012120.3(CD2AP):c.721C>A (p.Pro241Thr)	CD2AP (P241T)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 2425759	NC_000006.11:g.(?_47471016)_(47471176_?)del	CD2AP	Deletion	not provided	GPathogenic
Select item 2380519	NM_012120.3(CD2AP):c.1813G>A (p.Gly605Arg)	CD2AP (G605R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2360329	NM_012120.3(CD2AP):c.251G>A (p.Arg84Gln)	CD2AP (R84Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2332749	NM_012120.3(CD2AP):c.129T>G (p.Asn43Lys)	CD2AP (N43K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313313	NM_012120.3(CD2AP):c.118G>A (p.Gly40Arg)	CD2AP (G40R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302589	NM_012120.3(CD2AP):c.896T>C (p.Ile299Thr)	CD2AP (I299T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301921	NM_012120.3(CD2AP):c.487A>G (p.Lys163Glu)	CD2AP (K163E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285103	NM_012120.3(CD2AP):c.1396G>A (p.Val466Ile)	CD2AP (V466I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249579	NM_012120.3(CD2AP):c.1616C>T (p.Thr539Ile)	CD2AP (T539I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211246	NM_012120.3(CD2AP):c.839A>G (p.Tyr280Cys)	CD2AP (Y280C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2183887	NM_012120.3(CD2AP):c.1727A>G (p.Asp576Gly)	CD2AP (D576G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2178423	NM_012120.3(CD2AP):c.1297A>G (p.Ile433Val)	CD2AP (I433V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2176501	NM_012120.3(CD2AP):c.934G>A (p.Glu312Lys)	CD2AP (E312K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2174165	NM_012120.3(CD2AP):c.1229C>T (p.Pro410Leu)	CD2AP (P410L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2159429	NM_012120.3(CD2AP):c.332G>A (p.Arg111His)	CD2AP (R111H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2143465	NM_012120.3(CD2AP):c.1167C>G (p.Pro389=)	CD2AP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2136401	NM_012120.3(CD2AP):c.1612G>T (p.Asp538Tyr)	CD2AP (D538Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2102325	NM_012120.3(CD2AP):c.960T>C (p.Phe320=)	CD2AP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2100416	NM_012120.3(CD2AP):c.319+20C>A	CD2AP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2092581	NM_012120.3(CD2AP):c.1830A>C (p.Lys610Asn)	CD2AP (K610N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2071352	NM_012120.3(CD2AP):c.1358C>T (p.Pro453Leu)	CD2AP (P453L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2067577	NM_012120.3(CD2AP):c.1681A>G (p.Thr561Ala)	CD2AP (T561A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2053256	NM_012120.3(CD2AP):c.1280A>G (p.Asn427Ser)	CD2AP (N427S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2052128	NM_012120.3(CD2AP):c.1386_1387del (p.Ser463fs)	CD2AP (S463fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2039108	NM_012120.3(CD2AP):c.660T>G (p.Phe220Leu)	CD2AP (F220L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2027157	NM_012120.3(CD2AP):c.1375G>C (p.Val459Leu)	CD2AP (V459L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2019886	NM_012120.3(CD2AP):c.600T>C (p.Thr200=)	CD2AP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2000807	NM_012120.3(CD2AP):c.808+3A>G	CD2AP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1989948	NM_012120.3(CD2AP):c.541+19T>A	CD2AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1987219	NM_012120.3(CD2AP):c.4+7_4+8del	CD2AP	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1981980	NM_012120.3(CD2AP):c.1814+4A>G	CD2AP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1972140	NM_012120.3(CD2AP):c.1596A>G (p.Pro532=)	CD2AP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1970482	NM_012120.3(CD2AP):c.702T>A (p.Ser234Arg)	CD2AP (S234R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1947012	NM_012120.3(CD2AP):c.160G>A (p.Val54Ile)	CD2AP (V54I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1934733	NM_012120.3(CD2AP):c.729G>C (p.Lys243Asn)	CD2AP (K243N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1934247	NM_012120.3(CD2AP):c.1155A>G (p.Pro385=)	CD2AP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1924562	NM_012120.3(CD2AP):c.1192G>A (p.Ala398Thr)	CD2AP (A398T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1924479	NM_012120.3(CD2AP):c.1509C>T (p.Gly503=)	CD2AP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1924160	NM_012120.3(CD2AP):c.142A>G (p.Met48Val)	CD2AP (M48V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1920097	NM_012120.3(CD2AP):c.1772T>C (p.Ile591Thr)	CD2AP (I591T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1919555	NM_012120.3(CD2AP):c.683G>A (p.Arg228Gln)	CD2AP (R228Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1904241	NM_012120.3(CD2AP):c.913G>A (p.Glu305Lys)	CD2AP (E305K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1904225	NM_012120.3(CD2AP):c.421-5T>C	CD2AP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1904107	NM_012120.3(CD2AP):c.997A>G (p.Lys333Glu)	CD2AP (K333E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809619	NM_012120.3(CD2AP):c.1583C>T (p.Ala528Val)	CD2AP (A528V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712402	NM_012120.3(CD2AP):c.429A>C (p.Glu143Asp)	CD2AP (E143D)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 1712401	NM_012120.3(CD2AP):c.428A>G (p.Glu143Gly)	CD2AP (E143G)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 1712398	NM_012120.3(CD2AP):c.1471G>A (p.Ala491Thr)	CD2AP (A491T)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 1712388	NM_012120.3(CD2AP):c.297A>G (p.Pro99=)	CD2AP	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis	GLikely benign
Select item 1707334	NM_012120.3(CD2AP):c.809-180_809-177del	CD2AP	Microsatellite (intron variant)	not provided	GLikely benign

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