List of variants in gene PGAP1 reported as uncertain significance for autosomal recessive disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 109

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HGVS	dbSNP	gnomAD frequency
NM_024989.4(PGAP1):c.2287G>A (p.Val763Ile)	rs143960563	0.00081
NM_024989.4(PGAP1):c.331A>G (p.Lys111Glu)	rs142320636	0.00077
NM_024989.4(PGAP1):c.2375A>G (p.Asn792Ser)	rs36086547	0.00035
NM_024989.4(PGAP1):c.1953G>A (p.Gly651=)	rs148349860	0.00019
NM_024989.4(PGAP1):c.2642A>G (p.Lys881Arg)	rs375115788	0.00019
NM_024989.4(PGAP1):c.55T>C (p.Phe19Leu)	rs749719250	0.00011
NM_024989.4(PGAP1):c.692G>A (p.Arg231Gln)	rs368553507	0.00009
NM_024989.4(PGAP1):c.1475A>G (p.Asn492Ser)	rs199809707	0.00007
NM_024989.4(PGAP1):c.2197C>T (p.Pro733Ser)	rs753237558	0.00007
NM_024989.4(PGAP1):c.1721G>A (p.Arg574Gln)	rs769577378	0.00004
NM_024989.4(PGAP1):c.2408G>A (p.Arg803His)	rs745554603	0.00004
NM_024989.4(PGAP1):c.1089C>T (p.Asn363=)	rs766852236	0.00003
NM_024989.4(PGAP1):c.153A>G (p.Ile51Met)	rs777153886	0.00003
NM_024989.4(PGAP1):c.1558A>G (p.Ile520Val)	rs201002323	0.00003
NM_024989.4(PGAP1):c.1843T>A (p.Tyr615Asn)	rs771805552	0.00003
NM_024989.4(PGAP1):c.659C>T (p.Thr220Met)	rs774987863	0.00003
NM_024989.4(PGAP1):c.2004T>A (p.Asp668Glu)	rs200637575	0.00002
NM_024989.4(PGAP1):c.2174T>A (p.Ile725Asn)	rs758283563	0.00002
NM_024989.4(PGAP1):c.2587A>G (p.Met863Val)	rs771720370	0.00002
NM_024989.4(PGAP1):c.479G>A (p.Gly160Asp)	rs771798393	0.00002
NM_024989.4(PGAP1):c.843C>A (p.Asp281Glu)	rs1176534322	0.00002
NM_024989.4(PGAP1):c.100G>A (p.Glu34Lys)	rs752507663	0.00001
NM_024989.4(PGAP1):c.1274A>G (p.Tyr425Cys)	rs1291611574	0.00001
NM_024989.4(PGAP1):c.1352T>A (p.Phe451Tyr)	rs780043187	0.00001
NM_024989.4(PGAP1):c.2276A>G (p.Tyr759Cys)	rs776817075	0.00001
NM_024989.4(PGAP1):c.2525+5G>A	rs759133146	0.00001
NM_024989.4(PGAP1):c.2551C>T (p.Pro851Ser)	rs765007097	0.00001
NM_024989.4(PGAP1):c.2643G>C (p.Lys881Asn)	rs776985592	0.00001
NM_024989.4(PGAP1):c.478-3T>C	rs773139555	0.00001
NM_024989.4(PGAP1):c.695A>G (p.His232Arg)	rs749729836	0.00001
NM_024989.4(PGAP1):c.1036A>T (p.Thr346Ser)
NM_024989.4(PGAP1):c.104A>G (p.Asn35Ser)
NM_024989.4(PGAP1):c.1069T>C (p.Trp357Arg)	rs747024084
NM_024989.4(PGAP1):c.1078G>A (p.Val360Ile)
NM_024989.4(PGAP1):c.1085A>T (p.Tyr362Phe)
NM_024989.4(PGAP1):c.1208G>A (p.Ser403Asn)
NM_024989.4(PGAP1):c.1220+3A>G	rs2125812472
NM_024989.4(PGAP1):c.1230G>T (p.Gly410=)	rs2125812117
NM_024989.4(PGAP1):c.124A>G (p.Met42Val)	rs772948939
NM_024989.4(PGAP1):c.1346G>A (p.Ser449Asn)
NM_024989.4(PGAP1):c.1350+4_1350+5insAAA	rs759795498
NM_024989.4(PGAP1):c.1382A>G (p.Glu461Gly)
NM_024989.4(PGAP1):c.1397A>G (p.Gln466Arg)
NM_024989.4(PGAP1):c.1447G>A (p.Val483Met)	rs1329688368
NM_024989.4(PGAP1):c.1447G>C (p.Val483Leu)	rs1329688368
NM_024989.4(PGAP1):c.147+5G>C
NM_024989.4(PGAP1):c.1496G>A (p.Gly499Glu)
NM_024989.4(PGAP1):c.1521C>G (p.Ile507Met)
NM_024989.4(PGAP1):c.16_17inv (p.Val6Thr)
NM_024989.4(PGAP1):c.1706C>T (p.Thr569Met)
NM_024989.4(PGAP1):c.1729-16_1729-13del
NM_024989.4(PGAP1):c.1882A>G (p.Thr628Ala)	rs1334582239
NM_024989.4(PGAP1):c.1953G>C (p.Gly651=)
NM_024989.4(PGAP1):c.1981G>C (p.Val661Leu)
NM_024989.4(PGAP1):c.2018C>T (p.Thr673Ile)
NM_024989.4(PGAP1):c.2045T>C (p.Ile682Thr)	rs2125778704
NM_024989.4(PGAP1):c.2072C>T (p.Thr691Met)
NM_024989.4(PGAP1):c.2107G>A (p.Ala703Thr)
NM_024989.4(PGAP1):c.2128T>C (p.Ser710Pro)	rs1700574769
NM_024989.4(PGAP1):c.2136G>C (p.Trp712Cys)
NM_024989.4(PGAP1):c.2141C>T (p.Ala714Val)
NM_024989.4(PGAP1):c.2286+5G>A	rs937847069
NM_024989.4(PGAP1):c.22C>A (p.Leu8Ile)
NM_024989.4(PGAP1):c.2314A>G (p.Thr772Ala)
NM_024989.4(PGAP1):c.2327G>A (p.Ser776Asn)
NM_024989.4(PGAP1):c.2332C>A (p.Pro778Thr)
NM_024989.4(PGAP1):c.2351C>G (p.Ser784Cys)	rs760816428
NM_024989.4(PGAP1):c.2371T>C (p.Ser791Pro)
NM_024989.4(PGAP1):c.2372C>T (p.Ser791Phe)
NM_024989.4(PGAP1):c.2385A>C (p.Lys795Asn)
NM_024989.4(PGAP1):c.2422G>A (p.Asp808Asn)
NM_024989.4(PGAP1):c.2441G>A (p.Arg814His)
NM_024989.4(PGAP1):c.251C>T (p.Thr84Met)
NM_024989.4(PGAP1):c.2525+4C>T
NM_024989.4(PGAP1):c.2537A>T (p.Lys846Ile)
NM_024989.4(PGAP1):c.2548G>T (p.Asp850Tyr)	rs2125775207
NM_024989.4(PGAP1):c.2607_2610dup (p.Thr871fs)	rs1700449009
NM_024989.4(PGAP1):c.2614G>A (p.Val872Ile)
NM_024989.4(PGAP1):c.2690T>C (p.Phe897Ser)	rs1559326086
NM_024989.4(PGAP1):c.2743C>T (p.Leu915Phe)
NM_024989.4(PGAP1):c.2764A>G (p.Met922Val)
NM_024989.4(PGAP1):c.301+5G>A
NM_024989.4(PGAP1):c.31C>G (p.Leu11Val)	rs375123215
NM_024989.4(PGAP1):c.334G>T (p.Ala112Ser)
NM_024989.4(PGAP1):c.339G>C (p.Glu113Asp)	rs1457240197
NM_024989.4(PGAP1):c.34G>T (p.Ala12Ser)	rs1703369332
NM_024989.4(PGAP1):c.386A>G (p.Asn129Ser)
NM_024989.4(PGAP1):c.416G>A (p.Ser139Asn)
NM_024989.4(PGAP1):c.43G>A (p.Val15Ile)
NM_024989.4(PGAP1):c.442C>T (p.His148Tyr)	rs1364134988
NM_024989.4(PGAP1):c.497A>G (p.Lys166Arg)
NM_024989.4(PGAP1):c.502G>A (p.Val168Met)
NM_024989.4(PGAP1):c.511A>G (p.Ile171Val)
NM_024989.4(PGAP1):c.525G>A (p.Met175Ile)
NM_024989.4(PGAP1):c.52G>A (p.Val18Ile)
NM_024989.4(PGAP1):c.583A>C (p.Asn195His)
NM_024989.4(PGAP1):c.709A>C (p.Thr237Pro)
NM_024989.4(PGAP1):c.734G>A (p.Arg245Gln)
NM_024989.4(PGAP1):c.749G>A (p.Arg250His)
NM_024989.4(PGAP1):c.749G>C (p.Arg250Pro)
NM_024989.4(PGAP1):c.790A>G (p.Ser264Gly)
NM_024989.4(PGAP1):c.807+5T>C
NM_024989.4(PGAP1):c.808-7_808-3del	rs570708925
NM_024989.4(PGAP1):c.82G>A (p.Val28Ile)
NM_024989.4(PGAP1):c.857T>C (p.Val286Ala)
NM_024989.4(PGAP1):c.892G>A (p.Ala298Thr)	rs1385705047
NM_024989.4(PGAP1):c.908T>C (p.Ile303Thr)
NM_024989.4(PGAP1):c.911A>T (p.Asp304Val)	rs1323722383
NM_024989.4(PGAP1):c.91G>A (p.Gly31Ser)

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