LOC126805612[gene] - 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 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 1166664	NM_005026.5(PIK3CD):c.1021-20C>G	LOC126805612, PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GBenign
Select item 1665540	NM_005026.5(PIK3CD):c.1021-17C>A	LOC126805612, PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GLikely benign
Select item 1651474	NM_005026.5(PIK3CD):c.1021-17C>G	LOC126805612, PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GLikely benign
Select item 2166407	NM_005026.5(PIK3CD):c.1021-16C>T	LOC126805612, PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GLikely benign
Select item 2743398	NM_005026.5(PIK3CD):c.1021-14G>A	LOC126805612, PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GUncertain significance
Select item 1916397	NM_005026.5(PIK3CD):c.1021-9C>T	LOC126805612, PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GLikely benign
Select item 1949697	NM_005026.5(PIK3CD):c.1021-7T>A	LOC126805612, PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GUncertain significance
Select item 1056327	NM_005026.5(PIK3CD):c.1021-3C>T	LOC126805612, PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GUncertain significance
Select item 1438615	NM_005026.5(PIK3CD):c.1027G>T (p.Val343Leu)	LOC126805612, PIK3CD (V314L +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 1617982	NM_005026.5(PIK3CD):c.1029G>A (p.Val343=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 787204	NM_005026.5(PIK3CD):c.1035C>T (p.Ala345=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14 +1 more	GBenign
Select item 2700393	NM_005026.5(PIK3CD):c.1047C>G (p.His349Gln)	LOC126805612, PIK3CD (H320Q +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 1168254	NM_005026.5(PIK3CD):c.1047C>T (p.His349=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GBenign
Select item 2722418	NM_005026.5(PIK3CD):c.1048G>A (p.Gly350Ser)	LOC126805612, PIK3CD (G350S +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 1595811	NM_005026.5(PIK3CD):c.1053C>T (p.Asn351=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 2965948	NM_005026.5(PIK3CD):c.1054G>A (p.Glu352Lys)	LOC126805612, PIK3CD (E352K +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 1495102	NM_005026.5(PIK3CD):c.1057A>G (p.Met353Val)	LOC126805612, PIK3CD (M324V +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 541086	NM_005026.5(PIK3CD):c.1065C>T (p.Cys355=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1011802	NM_005026.5(PIK3CD):c.1070C>T (p.Thr357Met)	LOC126805612, PIK3CD (T328M +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 2244986	NM_005026.5(PIK3CD):c.1072G>T (p.Val358Leu)	LOC126805612, PIK3CD (V358L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1024241	NM_005026.5(PIK3CD):c.1072G>C (p.Val358Leu)	LOC126805612, PIK3CD (V329L +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 2074844	NM_005026.5(PIK3CD):c.1073T>C (p.Val358Ala)	PIK3CD, LOC126805612 (V358A +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GLikely benign
Select item 1711209	NM_005026.5(PIK3CD):c.1076C>A (p.Ser359Tyr)	LOC126805612, PIK3CD (S330Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1967373	NM_005026.5(PIK3CD):c.1083G>A (p.Ser361=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1142640	NM_005026.5(PIK3CD):c.1083G>C (p.Ser361=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1136006	NM_005026.5(PIK3CD):c.1083G>T (p.Ser361=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1407956	NM_005026.5(PIK3CD):c.1085A>T (p.Glu362Val)	LOC126805612, PIK3CD (E333V +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 1315936	NM_005026.5(PIK3CD):c.1092C>A (p.Ser364Arg)	LOC126805612, PIK3CD (S335R +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14 +1 more	GUncertain significance
Select item 1124876	NM_005026.5(PIK3CD):c.1092C>T (p.Ser364=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 2268262	NM_005026.5(PIK3CD):c.1093G>A (p.Val365Met)	LOC126805612, PIK3CD (V365M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2838846	NM_005026.5(PIK3CD):c.1099_1100delinsCT (p.Ser367Leu)	LOC126805612, PIK3CD (S367L +1 more)	Indel (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 2180805	NM_005026.5(PIK3CD):c.1100C>T (p.Ser367Leu)	LOC126805612, PIK3CD (S338L +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 764429	NM_005026.5(PIK3CD):c.1101G>A (p.Ser367=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 971212	NM_005026.5(PIK3CD):c.1108G>A (p.Val370Met)	LOC126805612, PIK3CD (V341M +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3003474	NM_005026.5(PIK3CD):c.1114A>G (p.Lys372Glu)	LOC126805612, PIK3CD (K372E +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 1399114	NM_005026.5(PIK3CD):c.1121G>A (p.Arg374Gln)	PIK3CD, LOC126805612 (R374Q +1 more)	Single nucleotide variant (missense variant)	PIK3CD-related disorder +1 more	GUncertain significance
Select item 742510	NM_005026.5(PIK3CD):c.1131C>T (p.Phe377=)	PIK3CD, LOC126805612	Single nucleotide variant (synonymous variant)	Immunodeficiency 14 +1 more	GLikely benign
Select item 1129306	NM_005026.5(PIK3CD):c.1146C>T (p.Cys382=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 546585	NM_005026.5(PIK3CD):c.1147G>A (p.Asp383Asn)	PIK3CD, LOC126805612 (D383N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1425491	NM_005026.5(PIK3CD):c.1153C>T (p.Pro385Ser)	LOC126805612, PIK3CD (P385S +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 862071	NM_005026.5(PIK3CD):c.1157G>A (p.Arg386His)	LOC126805612, PIK3CD (R386H +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 2052886	NM_005026.5(PIK3CD):c.1165C>T (p.Arg389Cys)	LOC126805612, PIK3CD (R360C +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 2709036	NM_005026.5(PIK3CD):c.1179G>T (p.Ala393=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1568684	NM_005026.5(PIK3CD):c.1179G>A (p.Ala393=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1926061	NM_005026.5(PIK3CD):c.1185C>T (p.Tyr395=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 3306616	NM_005026.5(PIK3CD):c.1186G>A (p.Ala396Thr)	LOC126805612, PIK3CD (A396T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2096466	NM_005026.5(PIK3CD):c.1188C>G (p.Ala396=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 722452	NM_005026.5(PIK3CD):c.1188C>T (p.Ala396=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 581916	NM_005026.5(PIK3CD):c.1189G>A (p.Val397Met)	PIK3CD, LOC126805612 (V397M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1090267	NM_005026.5(PIK3CD):c.1194C>T (p.Ile398=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 3234574	NM_005026.5(PIK3CD):c.1195G>A (p.Glu399Lys)	LOC126805612, PIK3CD (E370K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1143331	NM_005026.5(PIK3CD):c.1209G>A (p.Lys403=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 722598	NM_005026.5(PIK3CD):c.1212T>C (p.Ala404=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 871047	NM_005026.5(PIK3CD):c.1213C>T (p.Arg405Cys)	LOC126805612, PIK3CD (R376C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1409092	NM_005026.5(PIK3CD):c.1214G>A (p.Arg405His)	LOC126805612, PIK3CD (R376H +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 2133049	NM_005026.5(PIK3CD):c.1220C>T (p.Thr407Ile)	LOC126805612, PIK3CD (T407I +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 1143405	NM_005026.5(PIK3CD):c.1224G>A (p.Lys408=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1117754	NM_005026.5(PIK3CD):c.1227G>A (p.Lys409=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 2416300	NM_005026.5(PIK3CD):c.1241C>T (p.Ala414Val)	LOC126805612, PIK3CD (A385V +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 651966	NM_005026.5(PIK3CD):c.1242G>A (p.Ala414=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	not provided +3 more	GUncertain significance
Select item 2127407	NM_005026.5(PIK3CD):c.1242+13G>T	LOC126805612, PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GUncertain significance
Select item 1588837	NM_005026.5(PIK3CD):c.1242+13G>A	LOC126805612, PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GLikely benign
Select item 1653624	NM_005026.5(PIK3CD):c.1242+15C>T	LOC126805612, PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GLikely benign
Select item 2142766	NM_005026.5(PIK3CD):c.1242+16G>A	LOC126805612, PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GLikely benign
Select item 1249488	NM_005026.5(PIK3CD):c.1242+315A>T	LOC126805612, PIK3CD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234673	NM_005026.5(PIK3CD):c.1243-108T>C	LOC126805612, PIK3CD	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2719086	NM_005026.5(PIK3CD):c.1243-16C>T	LOC126805612, PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GBenign
Select item 2045530	NM_005026.5(PIK3CD):c.1243-15C>T	LOC126805612, PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GLikely benign
Select item 2034295	NM_005026.5(PIK3CD):c.1243-11T>C	LOC126805612, PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GLikely benign
Select item 3242097	NM_005026.5(PIK3CD):c.1243-7_1243-5del	LOC126805612, PIK3CD	Deletion (intron variant)	Immunodeficiency 14	GUncertain significance
Select item 1083937	NM_005026.5(PIK3CD):c.1243-9C>T	LOC126805612, PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GLikely benign
Select item 1663304	NM_005026.5(PIK3CD):c.1243-5T>C	LOC126805612, PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GLikely benign
Select item 132808	NM_005026.5(PIK3CD):c.1246T>C (p.Cys416Arg)	LOC126805612, PIK3CD (C416R +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GPathogenic
Select item 1418141	NM_005026.5(PIK3CD):c.1251C>T (p.Pro417=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 2015562	NM_005026.5(PIK3CD):c.1257C>T (p.Ala419=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 2152846	NM_005026.5(PIK3CD):c.1269C>T (p.Leu423=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 951325	NM_005026.5(PIK3CD):c.1271T>C (p.Met424Thr)	LOC126805612, PIK3CD (M424T +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 2746984	NM_005026.5(PIK3CD):c.1272G>T (p.Met424Ile)	LOC126805612, PIK3CD (M424I +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 798124	NM_005026.5(PIK3CD):c.1284C>T (p.Tyr428=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1565695	NM_005026.5(PIK3CD):c.1290C>T (p.Asp430=)	PIK3CD, LOC126805612	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 2854467	NM_005026.5(PIK3CD):c.1298A>G (p.Lys433Arg)	LOC126805612, PIK3CD (K404R +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 1927568	NM_005026.5(PIK3CD):c.1299G>C (p.Lys433Asn)	LOC126805612, PIK3CD (K433N +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 2991049	NM_005026.5(PIK3CD):c.1302C>T (p.Thr434=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 2820848	NM_005026.5(PIK3CD):c.1303G>A (p.Gly435Arg)	LOC126805612, PIK3CD (G435R +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance

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