ClinVar for Gene (Select 94005) - ClinVar

Links from Gene

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341846	NM_033198.4(PIGS):c.135G>C (p.Ser45=)	PIGS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3338278	NM_033198.4(PIGS):c.37G>T (p.Val13Leu)	PIGS (V13L)	Single nucleotide variant (missense variant)	Glycosylphosphatidylinositol biosynthesis defect 18	GUncertain significance
Select item 3338277	NM_033198.4(PIGS):c.1436T>A (p.Leu479Ter)	PIGS (L479*)	Single nucleotide variant (nonsense)	Glycosylphosphatidylinositol biosynthesis defect 18	GLikely pathogenic
Select item 3306516	NM_033198.4(PIGS):c.1510G>A (p.Asp504Asn)	PIGS (D504N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306515	NM_033198.4(PIGS):c.935G>T (p.Gly312Val)	PIGS (G312V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306514	NM_033198.4(PIGS):c.642C>A (p.Ser214Arg)	PIGS (S214R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306513	NM_033198.4(PIGS):c.1348G>T (p.Gly450Cys)	PIGS (G450C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306512	NM_033198.4(PIGS):c.491C>T (p.Pro164Leu)	PIGS (P164L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306511	NM_033198.4(PIGS):c.186G>C (p.Met62Ile)	PIGS (M62I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3257496	NM_033198.4(PIGS):c.1487C>T (p.Thr496Ile)	PIGS (T496I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3257143	NM_033198.4(PIGS):c.545T>C (p.Ile182Thr)	PIGS (I182T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3250672	NM_033198.4(PIGS):c.1384G>A (p.Ala462Thr)	PIGS (A462T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3212836	NM_033198.4(PIGS):c.455C>T (p.Ser152Leu)	PIGS (S152L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212835	NM_033198.4(PIGS):c.323A>G (p.Tyr108Cys)	PIGS (Y108C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212834	NM_033198.4(PIGS):c.125A>G (p.Tyr42Cys)	PIGS (Y42C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212833	NM_033198.4(PIGS):c.1199C>T (p.Ala400Val)	PIGS (A400V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212832	NM_033198.4(PIGS):c.1069G>C (p.Gly357Arg)	PIGS (G357R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068026	NM_033198.4(PIGS):c.550C>T (p.Arg184Cys)	PIGS (R184C)	Single nucleotide variant (missense variant)	Glycosylphosphatidylinositol biosynthesis defect 18	GUncertain significance
Select item 3052709	NM_033198.4(PIGS):c.286+7T>C	PIGS	Single nucleotide variant (intron variant)	PIGS-related disorder	GBenign
Select item 3049421	NM_033198.4(PIGS):c.554G>A (p.Arg185His)	PIGS (R185H)	Single nucleotide variant (missense variant)	PIGS-related disorder	GLikely benign
Select item 3049081	NM_033198.4(PIGS):c.435C>T (p.Tyr145=)	PIGS	Single nucleotide variant (synonymous variant)	PIGS-related disorder	GBenign
Select item 3045738	NM_033198.4(PIGS):c.1667G>A (p.Ter556=)	PIGS	Single nucleotide variant (synonymous variant)	PIGS-related disorder	GLikely benign
Select item 3043826	NM_033198.4(PIGS):c.1481C>G (p.Ala494Gly)	PIGS (A494G)	Single nucleotide variant (missense variant)	PIGS-related disorder	GLikely benign
Select item 3037314	NM_033198.4(PIGS):c.215A>C (p.Glu72Ala)	PIGS (E72A)	Single nucleotide variant (missense variant)	PIGS-related disorder	GBenign
Select item 2683019	NM_033198.4(PIGS):c.398del (p.Glu133fs)	PIGS (E133fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2647586	NM_033198.4(PIGS):c.231C>T (p.Asp77=)	PIGS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647585	NM_033198.4(PIGS):c.792C>T (p.Ala264=)	PIGS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647584	NM_033198.4(PIGS):c.1005G>A (p.Pro335=)	PIGS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647583	NM_033198.4(PIGS):c.1029C>T (p.Gly343=)	PIGS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647582	NM_033198.4(PIGS):c.1467C>T (p.Val489=)	PIGS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647581	NM_033198.4(PIGS):c.1468G>A (p.Ala490Thr)	PIGS (A490T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2647580	NM_033198.4(PIGS):c.1596C>G (p.Pro532=)	PIGS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647579	NM_033198.4(PIGS):c.1634G>A (p.Arg545His)	PIGS (R545H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2615641	NM_033198.4(PIGS):c.497G>C (p.Arg166Thr)	PIGS (R166T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615575	NM_033198.4(PIGS):c.661C>G (p.Leu221Val)	PIGS (L221V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609765	NM_033198.4(PIGS):c.1156A>G (p.Met386Val)	PIGS (M386V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609718	NM_033198.4(PIGS):c.793G>T (p.Ala265Ser)	PIGS (A265S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580348	GRCh37/hg19 17q11.1-11.2(chr17:25263507-27829791)x3	FAM222B, FLOT2 +41 more	Copy number gain	Developmental delay with or without intellectual impairment or behavioral abnormalities	GUncertain significance
Select item 2570980	NM_033198.4(PIGS):c.1414G>A (p.Val472Ile)	PIGS (V472I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2570979	NM_033198.4(PIGS):c.1515G>A (p.Pro505=)	PIGS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2551944	NM_033198.4(PIGS):c.202G>C (p.Val68Leu)	PIGS (V68L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487969	NM_033198.4(PIGS):c.65T>A (p.Phe22Tyr)	PIGS (F22Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483794	NM_033198.4(PIGS):c.853C>T (p.Arg285Cys)	PIGS (R285C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2427184	NC_000017.10:g.(?_26684694)_(29701173_?)dup	ABHD15, ADAP2 +54 more	Duplication	not provided	GUncertain significance
Select item 2425303	NC_000017.10:g.(?_26684694)_(27581367_?)dup	ALDOC, BLTP2 +29 more	Duplication	not provided	GUncertain significance
Select item 2397874	NM_033198.4(PIGS):c.1180C>T (p.Arg394Trp)	PIGS (R394W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379663	NM_033198.4(PIGS):c.671G>C (p.Ser224Thr)	PIGS (S224T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367089	NM_033198.4(PIGS):c.610C>G (p.Leu204Val)	PIGS (L204V)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2357859	NM_033198.4(PIGS):c.982G>A (p.Val328Met)	PIGS (V328M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355764	NM_033198.4(PIGS):c.1480G>T (p.Ala494Ser)	PIGS (A494S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345069	NM_033198.4(PIGS):c.294G>A (p.Met98Ile)	PIGS (M98I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340346	NM_033198.4(PIGS):c.43C>T (p.Arg15Trp)	PIGS (R15W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293004	NM_033198.4(PIGS):c.319G>A (p.Ala107Thr)	PIGS (A107T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265720	NM_033198.4(PIGS):c.1631C>T (p.Thr544Ile)	PIGS (T544I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259752	NM_033198.4(PIGS):c.55G>T (p.Ala19Ser)	PIGS (A19S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229659	NM_033198.4(PIGS):c.469-3C>T	PIGS	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2220436	NM_033198.4(PIGS):c.445G>A (p.Glu149Lys)	PIGS (E149K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218291	NM_033198.4(PIGS):c.1063C>T (p.Arg355Cys)	PIGS (R355C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1700374	NM_033198.4(PIGS):c.1565A>G (p.Tyr522Cys)	PIGS (Y522C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1694838	NM_033198.4(PIGS):c.864A>G (p.Ser288=)	PIGS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1694837	NM_033198.4(PIGS):c.1338G>A (p.Ala446=)	PIGS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1694836	NM_033198.4(PIGS):c.1407A>G (p.Val469=)	PIGS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1675663	NM_033198.4(PIGS):c.363G>A (p.Ser121=)	PIGS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1526572	GRCh37/hg19 17p11.2-q11.2(chr17:21690653-28281232)	ABHD15, ALDOC +49 more	Copy number gain	not specified	GPathogenic
Select item 1335265	NM_033198.4(PIGS):c.492C>T (p.Pro164=)	PIGS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1335264	NM_033198.4(PIGS):c.553C>T (p.Arg185Cys)	PIGS (R185C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1119957	NM_033198.4(PIGS):c.734G>A (p.Trp245Ter)	PIGS (W245*)	Single nucleotide variant (nonsense)	Glycosylphosphatidylinositol biosynthesis defect 18	GPathogenic
Select item 1119956	NM_033198.4(PIGS):c.1141_1164dup (p.Asp381_Val388dup)	PIGS	Duplication (inframe_insertion)	Glycosylphosphatidylinositol biosynthesis defect 18	GPathogenic
Select item 1119955	NM_033198.4(PIGS):c.986C>G (p.Pro329Arg)	PIGS (P329R)	Single nucleotide variant (missense variant)	Glycosylphosphatidylinositol biosynthesis defect 18	GPathogenic
Select item 1119954	NM_033198.4(PIGS):c.1070G>A (p.Gly357Asp)	PIGS (G357D)	Single nucleotide variant (missense variant)	Glycosylphosphatidylinositol biosynthesis defect 18	GPathogenic
Select item 1119953	NM_033198.4(PIGS):c.174G>C (p.Gln58His)	PIGS (Q58H)	Single nucleotide variant (missense variant)	Glycosylphosphatidylinositol biosynthesis defect 18	GPathogenic
Select item 1031035	NM_033198.4(PIGS):c.1204C>T (p.Pro402Ser)	PIGS (P402S)	Single nucleotide variant (missense variant)	Glycosylphosphatidylinositol biosynthesis defect 18	GUncertain significance
Select item 1028511	NM_033198.4(PIGS):c.526C>T (p.Arg176Trp)	PIGS (R176W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1028510	NM_033198.4(PIGS):c.1274G>A (p.Arg425Gln)	PIGS (R425Q)	Single nucleotide variant (missense variant)	Glycosylphosphatidylinositol biosynthesis defect 18	GUncertain significance
Select item 815920	GRCh37/hg19 17q11.1-11.2(chr17:25274363-28450707)x3	ABHD15, ALDOC +49 more	Copy number gain	not provided	GPathogenic
Select item 808245	NM_033198.4(PIGS):c.689C>T (p.Thr230Ile)	PIGS (T230I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 781360	NM_033198.4(PIGS):c.758G>A (p.Arg253His)	PIGS (R253H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 777153	NM_033198.4(PIGS):c.1030G>T (p.Ala344Ser)	PIGS (A344S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 624545	GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3	ABHD15, ADAP2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 585257	NM_033198.4(PIGS):c.468+1G>C	PIGS	Single nucleotide variant (splice donor variant)	Glycosylphosphatidylinositol biosynthesis defect 18	GPathogenic
Select item 585256	NM_033198.4(PIGS):c.923A>G (p.Glu308Gly)	PIGS (E308G)	Single nucleotide variant (missense variant)	Glycosylphosphatidylinositol biosynthesis defect 18	GLikely pathogenic
Select item 585255	NM_033198.4(PIGS):c.1316_1352delinsGGTTGCT (p.Thr439_Lys451delinsArgLeuLeu)	PIGS	Indel (inframe_indel)	Glycosylphosphatidylinositol biosynthesis defect 18	GPathogenic
Select item 585254	NM_033198.4(PIGS):c.101T>C (p.Leu34Pro)	PIGS (L34P)	Single nucleotide variant (missense variant)	Glycosylphosphatidylinositol biosynthesis defect 18	GLikely pathogenic
Select item 585253	NM_033198.4(PIGS):c.108G>A (p.Trp36Ter)	PIGS (W36*)	Single nucleotide variant (nonsense)	Glycosylphosphatidylinositol biosynthesis defect 18	GLikely pathogenic
Select item 523166	GRCh37/hg19 17q11.1-11.2(chr17:25248166-30645676)x1	LYRM9, MIR144 +72 more	Copy number loss	Mitogen-activated protein kinase kinase inhibitor response	Gdrug response
Select item 488852	NM_033198.4(PIGS):c.1201C>T (p.Gln401Ter)	PIGS (Q401*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 147274	GRCh38/hg38 17q11.2(chr17:28283125-28904397)x3	ALDOC, BLTP2 +88 more	Copy number gain	See cases	GBenign

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Links from Gene

Items: 90