PIGU[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065566, LOC130065567 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC130065574, LOC130065575 +950 more	Copy number gain	See cases	GPathogenic
Select item 153447	GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3	LOC130065743, LOC130065744 +254 more	Copy number gain	See cases	GPathogenic
Select item 146117	GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1	AAR2, ACSS2 +214 more	Copy number loss	See cases	GPathogenic
Select item 1918715	NM_080476.5(PIGU):c.1302C>G (p.Leu434=)	PIGU	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2044025	NM_080476.5(PIGU):c.1297G>A (p.Val433Met)	PIGU (V433M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1696481	NM_080476.5(PIGU):c.1286del (p.Glu429fs)	PIGU (E429fs)	Deletion (frameshift variant)	Glycosylphosphatidylinositol biosynthesis defect 21	GLikely pathogenic
Select item 1963802	NM_080476.5(PIGU):c.1278T>C (p.Asp426=)	PIGU	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2101301	NM_080476.5(PIGU):c.1250_1273dup (p.Ala424_Lys425insThrHisGlyLeuTyrLeuThrAla)	PIGU	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1449492	NM_080476.5(PIGU):c.1273A>G (p.Lys425Glu)	PIGU (K425E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2185855	NM_080476.5(PIGU):c.1270G>A (p.Ala424Thr)	PIGU (A424T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2150682	NM_080476.5(PIGU):c.1263C>T (p.Tyr421=)	PIGU	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1983089	NM_080476.5(PIGU):c.1257C>G (p.Gly419=)	PIGU	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2441853	NM_080476.5(PIGU):c.1245C>G (p.Tyr415Ter)	PIGU (Y415*)	Single nucleotide variant (nonsense)	Glycosylphosphatidylinositol biosynthesis defect 21	GUncertain significance
Select item 1369420	NM_080476.5(PIGU):c.1244A>G (p.Tyr415Cys)	PIGU (Y415C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2075958	NM_080476.5(PIGU):c.1236G>A (p.Arg412=)	PIGU	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1442103	NM_080476.5(PIGU):c.1220A>G (p.Tyr407Cys)	PIGU (Y407C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1642160	NM_080476.5(PIGU):c.1209T>C (p.Ser403=)	PIGU	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2065124	NM_080476.5(PIGU):c.1195-10C>T	PIGU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3062078	NM_080476.5(PIGU):c.1195-1576G>A	PIGU	Single nucleotide variant (intron variant)	Glycosylphosphatidylinositol biosynthesis defect 21	GUncertain significance
Select item 1299432	NM_080476.5(PIGU):c.1194+3A>G	PIGU	Single nucleotide variant (intron variant)	Glycosylphosphatidylinositol biosynthesis defect 21	GUncertain significance
Select item 689724	NM_080476.5(PIGU):c.1149C>A (p.Asn383Lys)	PIGU (N383K)	Single nucleotide variant (missense variant)	Glycosylphosphatidylinositol biosynthesis defect 21	GPathogenic
Select item 2253604	NM_080476.5(PIGU):c.1100T>C (p.Leu367Pro)	PIGU (L367P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1492030	NM_080476.5(PIGU):c.1090G>A (p.Val364Ile)	PIGU (V364I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2080838	NM_080476.5(PIGU):c.1087A>G (p.Ile363Val)	PIGU (I363V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1564979	NM_080476.5(PIGU):c.1062C>T (p.Asn354=)	PIGU	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1990758	NM_080476.5(PIGU):c.1052-20G>A	PIGU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976990	NM_080476.5(PIGU):c.1051+15C>T	PIGU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974192	NM_080476.5(PIGU):c.1051+13G>A	PIGU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1960859	NM_080476.5(PIGU):c.1050A>G (p.Arg350=)	PIGU	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2881908	NM_080476.5(PIGU):c.1032G>T (p.Val344=)	PIGU	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1559403	NM_080476.5(PIGU):c.1030G>A (p.Val344Met)	PIGU (V344M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2164573	NM_080476.5(PIGU):c.1008G>A (p.Ala336=)	PIGU	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2065696	NM_080476.5(PIGU):c.1002C>T (p.Asp334=)	PIGU	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1607925	NM_080476.5(PIGU):c.998G>A (p.Gly333Glu)	PIGU (G333E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 985587	NM_080476.5(PIGU):c.997G>C (p.Gly333Arg)	PIGU (G333R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062090	NM_080476.5(PIGU):c.989C>G (p.Pro330Arg)	PIGU (P330R)	Single nucleotide variant (missense variant)	Glycosylphosphatidylinositol biosynthesis defect 21	GUncertain significance
Select item 1904655	NM_080476.5(PIGU):c.989C>T (p.Pro330Leu)	PIGU (P330L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2629020	NM_080476.5(PIGU):c.985T>C (p.Tyr329His)	PIGU (Y329H)	Single nucleotide variant (missense variant)	PIGU-related condition	GUncertain significance
Select item 1966466	NM_080476.5(PIGU):c.969C>T (p.Ile323=)	PIGU	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2067766	NM_080476.5(PIGU):c.960C>T (p.Ile320=)	PIGU	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010959	NM_080476.5(PIGU):c.939C>A (p.Ile313=)	PIGU	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2063635	NM_080476.5(PIGU):c.927-8_927-4del	PIGU	Microsatellite (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1921594	NM_080476.5(PIGU):c.927-19_927-16del	PIGU	Deletion (intron variant)	not provided	GLikely benign
Select item 1909122	NM_080476.5(PIGU):c.927-31CT[5]	PIGU	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1599888	NM_080476.5(PIGU):c.927-31CT[4]	PIGU	Microsatellite (intron variant)	not provided	GBenign
Select item 3004835	NM_080476.5(PIGU):c.926+16T>A	PIGU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2123289	NM_080476.5(PIGU):c.914C>G (p.Ala305Gly)	PIGU (A305G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2110897	NM_080476.5(PIGU):c.867T>C (p.Phe289=)	PIGU	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1579416	NM_080476.5(PIGU):c.861C>G (p.Leu287=)	PIGU	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2792380	NM_080476.5(PIGU):c.801C>G (p.Leu267=)	PIGU	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2082817	NM_080476.5(PIGU):c.786T>C (p.Leu262=)	PIGU	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1909771	NM_080476.5(PIGU):c.782+16G>A	PIGU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2434851	NM_080476.5(PIGU):c.780T>G (p.Phe260Leu)	PIGU (F260L)	Single nucleotide variant (missense variant)	Glycosylphosphatidylinositol biosynthesis defect 21	GUncertain significance
Select item 1926490	NM_080476.5(PIGU):c.766G>A (p.Ala256Thr)	PIGU (A256T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2154737	NM_080476.5(PIGU):c.765C>T (p.Pro255=)	PIGU	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1471543	NM_080476.5(PIGU):c.724T>C (p.Cys242Arg)	PIGU (C242R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1998050	NM_080476.5(PIGU):c.717A>C (p.Val239=)	PIGU	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2153462	NM_080476.5(PIGU):c.685T>C (p.Tyr229His)	PIGU (Y229H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2172370	NM_080476.5(PIGU):c.628C>T (p.Arg210Trp)	PIGU (R210W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1914327	NM_080476.5(PIGU):c.628-21_628-20del	PIGU	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2070449	NM_080476.5(PIGU):c.573C>T (p.Tyr191=)	PIGU	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1473406	NM_080476.5(PIGU):c.566C>T (p.Ala189Val)	PIGU (A189V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2240725	NM_080476.5(PIGU):c.541C>T (p.Leu181Phe)	PIGU (L181F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2434850	NM_080476.5(PIGU):c.530-3C>A	PIGU	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 3015841	NM_080476.5(PIGU):c.522G>A (p.Thr174=)	PIGU	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2417726	NM_080476.5(PIGU):c.486C>T (p.Ile162=)	PIGU	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1957225	NM_080476.5(PIGU):c.482C>T (p.Ala161Val)	PIGU (A161V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1965763	NM_080476.5(PIGU):c.450G>A (p.Thr150=)	PIGU	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1479715	NM_080476.5(PIGU):c.449C>T (p.Thr150Met)	PIGU (T150M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1667836	NM_080476.5(PIGU):c.429-9C>T	PIGU	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2755148	NM_080476.5(PIGU):c.429-16G>A	PIGU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2275793	NM_080476.5(PIGU):c.404A>G (p.Tyr135Cys)	PIGU (Y135C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2085947	NM_080476.5(PIGU):c.401G>A (p.Arg134His)	PIGU (R134H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2380397	NM_080476.5(PIGU):c.400C>T (p.Arg134Cys)	PIGU (R134C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2168087	NM_080476.5(PIGU):c.382C>T (p.Arg128Trp)	PIGU (R128W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175518	NM_080476.5(PIGU):c.372C>T (p.Ala124=)	PIGU	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2047196	NM_080476.5(PIGU):c.362C>A (p.Pro121Gln)	PIGU (P121Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2713960	NM_080476.5(PIGU):c.353A>G (p.Gln118Arg)	PIGU (Q118R)	Single nucleotide variant (missense variant)	PIGU-related condition +1 more	GLikely benign
Select item 3058983	NM_080476.5(PIGU):c.319-5dup	PIGU	Duplication (intron variant)	PIGU-related condition	GLikely benign
Select item 3037749	NM_080476.5(PIGU):c.319-6_319-5dup	PIGU	Duplication (intron variant)	PIGU-related condition	GLikely benign
Select item 3059512	NM_080476.5(PIGU):c.319-5del	PIGU	Deletion (intron variant)	PIGU-related condition	GLikely benign
Select item 3041569	NM_080476.5(PIGU):c.319-6_319-5del	PIGU	Deletion (intron variant)	PIGU-related condition	GLikely benign
Select item 2783011	NM_080476.5(PIGU):c.318+10T>A	PIGU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2045834	NM_080476.5(PIGU):c.308A>G (p.Asn103Ser)	PIGU (N103S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2070097	NM_080476.5(PIGU):c.292G>A (p.Ala98Thr)	PIGU (A98T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3022007	NM_080476.5(PIGU):c.256-11T>C	PIGU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1909731	NM_080476.5(PIGU):c.256-20A>G	PIGU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 689723	NM_080476.5(PIGU):c.209T>A (p.Ile70Lys)	PIGU (I70K)	Single nucleotide variant (missense variant)	Glycosylphosphatidylinositol biosynthesis defect 21	GPathogenic
Select item 1976001	NM_080476.5(PIGU):c.202T>C (p.Leu68=)	PIGU	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2160827	NM_080476.5(PIGU):c.196-7dup	PIGU	Duplication (intron variant)	not provided	GBenign
Select item 1987663	NM_080476.5(PIGU):c.196-15_196-14del	PIGU	Deletion (intron variant)	not provided	GBenign
Select item 1938358	NM_080476.5(PIGU):c.194A>C (p.Glu65Ala)	PIGU (E65A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1938359	NM_080476.5(PIGU):c.162A>G (p.Gly54=)	PIGU	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1377766	NM_080476.5(PIGU):c.157T>G (p.Leu53Val)	PIGU (L53V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1327025	NM_080476.5(PIGU):c.130+29A>C	PIGU	Single nucleotide variant (intron variant)	Glycosylphosphatidylinositol biosynthesis defect 21	GBenign
Select item 2139082	NM_080476.5(PIGU):c.130+9A>G	PIGU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1675854	NM_080476.5(PIGU):c.111A>C (p.Pro37=)	PIGU	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988100	NM_080476.5(PIGU):c.99G>A (p.Glu33=)	PIGU	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2183585	NM_080476.5(PIGU):c.62G>A (p.Arg21His)	PIGU (R21H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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