5293[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 148387	GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	AADACL3, AADACL4 +500 more	Copy number loss	See cases	GPathogenic
Select item 59856	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	LOC129929435, LOC129929436 +505 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 58051	GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3	AADACL3, AADACL4 +387 more	Copy number gain	See cases	GPathogenic
Select item 59884	GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1	AADACL3, AADACL4 +386 more	Copy number loss	See cases	GPathogenic
Select item 146535	GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1	AGTRAP, ANGPTL7 +309 more	Copy number loss	See cases	GPathogenic
Select item 148048	GRCh38/hg38 1p36.23-36.22(chr1:8804244-10102950)x3	CA6, CLSTN1 +107 more	Copy number gain	See cases	GUncertain significance
Select item 155133	GRCh38/hg38 1p36.23-36.22(chr1:8819278-9634691)x3	CA6, ENO1 +69 more	Copy number gain	See cases	GUncertain significance
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 144297	GRCh38/hg38 1p36.23-36.21(chr1:9064492-12666744)x1	AADACL4, AGTRAP +280 more	Copy number loss	See cases	GPathogenic
Select item 153432	GRCh38/hg38 1p36.22(chr1:9378480-10317912)x3	CLSTN1, CTNNBIP1 +69 more	Copy number gain	See cases	GUncertain significance
Select item 152293	GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1	AADACL3, AADACL4 +370 more	Copy number loss	See cases	GPathogenic
Select item 2638188	NM_005026.5(PIK3CD):c.-138+2480C>T	PIK3CD, PIK3CD-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2638189	NM_005026.5(PIK3CD):c.-138+2505G>A	PIK3CD, PIK3CD-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 982099	NM_005026.5(PIK3CD):c.-138+2682G>C	PIK3CD, PIK3CD-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 1138980	NM_005026.5(PIK3CD):c.4C>A (p.Pro2Thr)	PIK3CD (P2T)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GLikely benign
Select item 943206	NM_005026.5(PIK3CD):c.5C>T (p.Pro2Leu)	PIK3CD (P2L)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 751906	NM_005026.5(PIK3CD):c.6C>T (p.Pro2=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1384937	NM_005026.5(PIK3CD):c.8C>T (p.Pro3Leu)	PIK3CD (P3L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2880397	NM_005026.5(PIK3CD):c.12G>T (p.Gly4=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 2180356	NM_005026.5(PIK3CD):c.12G>A (p.Gly4=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1019034	NM_005026.5(PIK3CD):c.17A>C (p.Asp6Ala)	PIK3CD (D6A)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 1011232	NM_005026.5(PIK3CD):c.17A>G (p.Asp6Gly)	PIK3CD (D6G)	Single nucleotide variant (missense variant)	Immunodeficiency 14 +1 more	GUncertain significance
Select item 749014	NM_005026.5(PIK3CD):c.24C>A (p.Pro8=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 2146657	NM_005026.5(PIK3CD):c.30A>C (p.Glu10Asp)	PIK3CD (E10D)	Single nucleotide variant (missense variant)	Immunodeficiency 14 +1 more	GUncertain significance
Select item 1106990	NM_005026.5(PIK3CD):c.39C>G (p.Thr13=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 966147	NM_005026.5(PIK3CD):c.41A>C (p.Lys14Thr)	PIK3CD (K14T)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 1161080	NM_005026.5(PIK3CD):c.57C>T (p.Ser19=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1359338	NM_005026.5(PIK3CD):c.58G>A (p.Val20Ile)	PIK3CD (V20I)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 1352150	NM_005026.5(PIK3CD):c.62T>C (p.Val21Ala)	PIK3CD (V21A)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 2170085	NM_005026.5(PIK3CD):c.69C>T (p.Asp23=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 2027690	NM_005026.5(PIK3CD):c.75G>C (p.Leu25=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1544902	NM_005026.5(PIK3CD):c.76C>T (p.Leu26=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1088925	NM_005026.5(PIK3CD):c.84A>G (p.Thr28=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 2191477	NM_005026.5(PIK3CD):c.87G>C (p.Gly29=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 2101052	NM_005026.5(PIK3CD):c.99C>T (p.Asn33=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 2849187	NM_005026.5(PIK3CD):c.104_105del (p.Pro35fs)	PIK3CD (P35fs)	Deletion (frameshift variant)	Immunodeficiency 14	GUncertain significance
Select item 1659822	NM_005026.5(PIK3CD):c.105T>G (p.Pro35=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 2863729	NM_005026.5(PIK3CD):c.112C>A (p.Arg38Ser)	PIK3CD (R38S)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 657939	NM_005026.5(PIK3CD):c.112C>T (p.Arg38Cys)	PIK3CD (R38C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2110452	NM_005026.5(PIK3CD):c.113G>T (p.Arg38Leu)	PIK3CD (R38L)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 720282	NM_005026.5(PIK3CD):c.114C>T (p.Arg38=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 943205	NM_005026.5(PIK3CD):c.121A>C (p.Asn41His)	PIK3CD (N41H)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 765031	NM_005026.5(PIK3CD):c.132C>A (p.Thr44=)	PIK3CD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3212957	NM_005026.5(PIK3CD):c.133A>G (p.Ile45Val)	PIK3CD (I45V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 745703	NM_005026.5(PIK3CD):c.138G>A (p.Lys46=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 652075	NM_005026.5(PIK3CD):c.141+3A>G	PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GUncertain significance
Select item 1623771	NM_005026.5(PIK3CD):c.141+13T>C	PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GLikely benign
Select item 1146480	NM_005026.5(PIK3CD):c.141+15C>T	PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GLikely benign
Select item 1427611	NM_005026.5(PIK3CD):c.141+16G>A	PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GLikely benign
Select item 2628235	NM_005026.5(PIK3CD):c.141+37AG[12]	PIK3CD	Microsatellite (intron variant)	not specified	GBenign
Select item 1221914	NM_005026.5(PIK3CD):c.141+60C>G	PIK3CD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286914	NM_005026.5(PIK3CD):c.141+211C>T	PIK3CD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273461	NM_005026.5(PIK3CD):c.142-139G>A	PIK3CD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1090412	NM_005026.5(PIK3CD):c.142-18C>T	PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GLikely benign
Select item 1931027	NM_005026.5(PIK3CD):c.142-17G>A	PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GLikely benign
Select item 1539127	NM_005026.5(PIK3CD):c.142-12C>T	PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GBenign
Select item 2080737	NM_005026.5(PIK3CD):c.142-7C>T	PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GLikely benign
Select item 653557	NM_005026.5(PIK3CD):c.142-3C>T	PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GUncertain significance
Select item 965978	NM_005026.5(PIK3CD):c.155G>A (p.Arg52His)	PIK3CD (R52H)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 734542	NM_005026.5(PIK3CD):c.156C>T (p.Arg52=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 2711850	NM_005026.5(PIK3CD):c.163T>G (p.Tyr55Asp)	PIK3CD (Y55D)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 2093272	NM_005026.5(PIK3CD):c.164A>G (p.Tyr55Cys)	PIK3CD (Y55C)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 2167600	NM_005026.5(PIK3CD):c.165T>C (p.Tyr55=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1500652	NM_005026.5(PIK3CD):c.171_178del (p.Leu58fs)	PIK3CD (L58fs)	Deletion (frameshift variant)	Immunodeficiency 14	GUncertain significance
Select item 1135386	NM_005026.5(PIK3CD):c.171G>T (p.Pro57=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1111187	NM_005026.5(PIK3CD):c.171G>A (p.Pro57=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 393174	NM_005026.5(PIK3CD):c.181A>G (p.Met61Val)	PIK3CD (M61V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1116651	NM_005026.5(PIK3CD):c.186C>G (p.Leu62=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 2985666	NM_005026.5(PIK3CD):c.192C>A (p.Gly64=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1939924	NM_005026.5(PIK3CD):c.195C>T (p.Pro65=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GUncertain significance
Select item 1654429	NM_005026.5(PIK3CD):c.195C>G (p.Pro65=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1996731	NM_005026.5(PIK3CD):c.210C>T (p.Phe70=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GUncertain significance
Select item 963563	NM_005026.5(PIK3CD):c.221A>G (p.Asn74Ser)	PIK3CD (N74S)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 2163051	NM_005026.5(PIK3CD):c.230C>T (p.Ala77Val)	PIK3CD (A77V)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 618791	NM_005026.5(PIK3CD):c.231G>A (p.Ala77=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14 +1 more	GLikely benign
Select item 2632970	NM_005026.5(PIK3CD):c.232G>A (p.Glu78Lys)	PIK3CD (E78K)	Single nucleotide variant (missense variant)	PIK3CD-related disorder	GUncertain significance
Select item 2633253	NM_005026.5(PIK3CD):c.234G>C (p.Glu78Asp)	PIK3CD (E78D)	Single nucleotide variant (missense variant)	PIK3CD-related disorder	GUncertain significance
Select item 1090892	NM_005026.5(PIK3CD):c.234G>A (p.Glu78=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 541084	NM_005026.5(PIK3CD):c.236_237del (p.Gln79fs)	PIK3CD (Q79fs)	Deletion (frameshift variant)	Immunodeficiency 14	GUncertain significance
Select item 1166707	NM_005026.5(PIK3CD):c.252C>T (p.Asp84=)	PIK3CD	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1013936	NM_005026.5(PIK3CD):c.259C>T (p.Arg87Trp)	PIK3CD (R87W)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 2132757	NM_005026.5(PIK3CD):c.261G>A (p.Arg87=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1496218	NM_005026.5(PIK3CD):c.262C>T (p.Arg88Cys)	PIK3CD (R88C)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 2582528	NM_005026.5(PIK3CD):c.266_273del (p.Leu89fs)	PIK3CD (L89fs)	Deletion (frameshift variant)	Immunodeficiency 14b, autosomal recessive	GLikely pathogenic
Select item 1585711	NM_005026.5(PIK3CD):c.291C>T (p.Pro97=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 2443207	NM_005026.5(PIK3CD):c.292G>A (p.Val98Ile)	PIK3CD (V98I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2083201	NM_005026.5(PIK3CD):c.295C>T (p.Leu99=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1116708	NM_005026.5(PIK3CD):c.300C>A (p.Arg100=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1487069	NM_005026.5(PIK3CD):c.304G>A (p.Val102Met)	PIK3CD (V102M)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 2630878	NM_005026.5(PIK3CD):c.307G>A (p.Ala103Thr)	PIK3CD (A103T)	Single nucleotide variant (missense variant)	Immunodeficiency 14 +1 more	GUncertain significance
Select item 1905851	NM_005026.5(PIK3CD):c.310C>T (p.Arg104Cys)	PIK3CD (R104C)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 3237514	NM_005026.5(PIK3CD):c.317dup (p.Asp107fs)	PIK3CD (D107fs)	Duplication (frameshift variant)	Immunodeficiency 14b, autosomal recessive	GLikely pathogenic
Select item 1542466	NM_005026.5(PIK3CD):c.321C>T (p.Asp107=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1338106	NM_005026.5(PIK3CD):c.322C>T (p.Arg108Cys)	PIK3CD (R108C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance

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