ClinVar for OMIM (Select 615802) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235692	NM_024989.4(PGAP1):c.1546_1549del (p.Val516fs)	PGAP1 (V127fs +2 more)	Deletion (frameshift variant)	Intellectual disability, autosomal recessive 42	GPathogenic
Select item 3233391	NM_024989.4(PGAP1):c.861-2A>G	PGAP1	Single nucleotide variant (splice acceptor variant)	Intellectual disability, autosomal recessive 42	GPathogenic
Select item 3065982	NM_024989.4(PGAP1):c.721G>C (p.Ala241Pro)	PGAP1 (A241P +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 3065969	NM_000175.5(GPI):c.1607C>T (p.Thr536Ile)	GPI (T508I +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 3018788	NM_024989.4(PGAP1):c.860+16T>C	PGAP1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 42	GLikely benign
Select item 3010780	NM_024989.4(PGAP1):c.2630+20C>A	PGAP1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 42	GLikely benign
Select item 3006329	NM_024989.4(PGAP1):c.2287-20G>A	PGAP1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 42	GLikely benign
Select item 2999191	NM_024989.4(PGAP1):c.1500+14A>T	PGAP1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 42	GLikely benign
Select item 2973764	NM_024989.4(PGAP1):c.649+8C>G	PGAP1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 42	GLikely benign
Select item 2966538	NM_024989.4(PGAP1):c.2526-4A>G	PGAP1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 42	GLikely benign
Select item 2958534	NM_024989.4(PGAP1):c.1755A>G (p.Gln585=)	PGAP1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 42	GLikely benign
Select item 2909290	NM_024989.4(PGAP1):c.52G>A (p.Val18Ile)	PGAP1 (V18I)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 2885113	NM_024989.4(PGAP1):c.908T>C (p.Ile303Thr)	PGAP1 (I303T +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 2833278	NM_024989.4(PGAP1):c.1869C>T (p.Cys623=)	PGAP1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 42	GLikely benign
Select item 2812078	NM_024989.4(PGAP1):c.195G>A (p.Glu65=)	PGAP1	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal recessive 42	GLikely benign
Select item 2807292	NM_024989.4(PGAP1):c.891A>C (p.Arg297=)	PGAP1	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal recessive 42	GLikely benign
Select item 2802677	NM_024989.4(PGAP1):c.1553-16T>A	PGAP1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 42	GLikely benign
Select item 2792925	NM_024989.4(PGAP1):c.1617A>G (p.Ala539=)	PGAP1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 42	GLikely benign
Select item 2792764	NM_024989.4(PGAP1):c.822T>G (p.Pro274=)	PGAP1	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal recessive 42	GLikely benign
Select item 2770871	NM_024989.4(PGAP1):c.1867del (p.Cys623fs)	PGAP1 (C449fs +2 more)	Deletion (frameshift variant)	Intellectual disability, autosomal recessive 42	GPathogenic
Select item 2746971	NM_024989.4(PGAP1):c.2287-1G>A	PGAP1	Single nucleotide variant (splice acceptor variant)	Intellectual disability, autosomal recessive 42	GLikely pathogenic
Select item 2741360	NM_024989.4(PGAP1):c.1458A>C (p.Thr486=)	PGAP1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 42	GLikely benign
Select item 2739590	NM_024989.4(PGAP1):c.951A>G (p.Lys317=)	PGAP1	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal recessive 42	GLikely benign
Select item 2730390	NM_024989.4(PGAP1):c.2137C>T (p.Leu713=)	PGAP1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 42	GLikely benign
Select item 2723455	NM_024989.4(PGAP1):c.1362T>C (p.Asp454=)	PGAP1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 42	GLikely benign
Select item 2721459	NM_024989.4(PGAP1):c.915T>C (p.Ala305=)	PGAP1	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal recessive 42	GLikely benign
Select item 2711123	NM_024989.4(PGAP1):c.2286+13A>G	PGAP1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 42	GLikely benign
Select item 2703351	NM_024989.4(PGAP1):c.1351-2A>G	PGAP1	Single nucleotide variant (splice acceptor variant)	Intellectual disability, autosomal recessive 42	GLikely pathogenic
Select item 2699772	NM_024989.4(PGAP1):c.2040C>T (p.Pro680=)	PGAP1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 42	GLikely benign
Select item 2697426	NM_024989.4(PGAP1):c.2385A>C (p.Lys795Asn)	PGAP1 (K406N +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 2687791	NM_024989.4(PGAP1):c.1272G>A (p.Lys424=)	PGAP1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 42	GLikely pathogenic
Select item 2671723	NM_024989.4(PGAP1):c.2393C>G (p.Ser798Ter)	PGAP1 (S409* +2 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal recessive 42	GLikely pathogenic
Select item 2585531	NM_024989.4(PGAP1):c.2743C>T (p.Leu915Phe)	PGAP1 (L741F +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 2502370	NM_024989.4(PGAP1):c.289del (p.Ser97fs)	PGAP1 (S97fs)	Deletion (5 prime UTR variant +1 more)	Intellectual disability, autosomal recessive 42	GLikely pathogenic
Select item 2434673	NM_024989.4(PGAP1):c.2422G>A (p.Asp808Asn)	PGAP1 (D419N +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 2420875	NM_024989.4(PGAP1):c.1496G>A (p.Gly499Glu)	PGAP1 (G110E +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 2417579	NM_024989.4(PGAP1):c.1553-15dup	PGAP1	Duplication (intron variant)	Intellectual disability, autosomal recessive 42	GBenign
Select item 2416419	NM_024989.4(PGAP1):c.2614G>A (p.Val872Ile)	PGAP1 (V483I +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 2200527	NM_024989.4(PGAP1):c.1208G>A (p.Ser403Asn)	PGAP1 (S229N +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 2199633	NM_024989.4(PGAP1):c.186C>T (p.Pro62=)	PGAP1	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal recessive 42	GLikely benign
Select item 2197551	NM_024989.4(PGAP1):c.2107G>A (p.Ala703Thr)	PGAP1 (A314T +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 2195097	NM_024989.4(PGAP1):c.478-15G>T	PGAP1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 42	GLikely benign
Select item 2189618	NM_024989.4(PGAP1):c.416G>A (p.Ser139Asn)	PGAP1 (S139N)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 2183519	NM_024989.4(PGAP1):c.1981G>C (p.Val661Leu)	PGAP1 (V272L +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 2175327	NM_024989.4(PGAP1):c.857T>C (p.Val286Ala)	PGAP1 (V112A +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 2167979	NM_024989.4(PGAP1):c.2286+11T>C	PGAP1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 42	GLikely benign
Select item 2167353	NM_024989.4(PGAP1):c.2372C>T (p.Ser791Phe)	PGAP1 (S791F +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 2159606	NM_024989.4(PGAP1):c.301+7C>T	PGAP1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 42	GLikely benign
Select item 2159605	NM_024989.4(PGAP1):c.301+10_301+12del	PGAP1	Deletion (intron variant)	Intellectual disability, autosomal recessive 42	GLikely benign
Select item 2156641	NM_024989.4(PGAP1):c.1078G>A (p.Val360Ile)	PGAP1 (V360I +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 2155071	NM_024989.4(PGAP1):c.2709T>C (p.Tyr903=)	PGAP1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 42	GLikely benign
Select item 2154405	NM_024989.4(PGAP1):c.2338-16C>T	PGAP1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 42	GLikely benign
Select item 2154133	NM_024989.4(PGAP1):c.2371T>C (p.Ser791Pro)	PGAP1 (S402P +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 2151272	NM_024989.4(PGAP1):c.583A>C (p.Asn195His)	PGAP1 (N195H +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 2150448	NM_024989.4(PGAP1):c.2327G>A (p.Ser776Asn)	PGAP1 (S776N +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 2147067	NM_024989.4(PGAP1):c.2136G>C (p.Trp712Cys)	PGAP1 (W323C +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 2145005	NM_024989.4(PGAP1):c.1182T>C (p.Asn394=)	PGAP1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 42	GLikely benign
Select item 2144450	NM_024989.4(PGAP1):c.1729-16_1729-13del	PGAP1	Deletion (intron variant)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 2143188	NM_024989.4(PGAP1):c.22C>A (p.Leu8Ile)	PGAP1 (L8I)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 2139822	NM_024989.4(PGAP1):c.1351-22_1351-19del	PGAP1	Deletion (intron variant)	Intellectual disability, autosomal recessive 42	GLikely benign
Select item 2128443	NM_024989.4(PGAP1):c.1036A>T (p.Thr346Ser)	PGAP1 (T172S +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 2127732	NM_024989.4(PGAP1):c.2631-7T>C	PGAP1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 42	GLikely benign
Select item 2112484	NM_024989.4(PGAP1):c.129T>C (p.Phe43=)	PGAP1	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal recessive 42	GLikely benign
Select item 2106220	NM_024989.4(PGAP1):c.2441G>A (p.Arg814His)	PGAP1 (R640H +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 42 +1 more	GUncertain significance
Select item 2090507	NM_024989.4(PGAP1):c.147+5G>C	PGAP1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 2087408	NM_024989.4(PGAP1):c.2525+4C>T	PGAP1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 2085629	NM_024989.4(PGAP1):c.2314A>G (p.Thr772Ala)	PGAP1 (T383A +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 42 +1 more	GUncertain significance
Select item 2078703	NM_024989.4(PGAP1):c.807+5T>C	PGAP1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 2076272	NM_024989.4(PGAP1):c.189A>G (p.Ala63=)	PGAP1	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal recessive 42	GLikely benign
Select item 2075786	NM_024989.4(PGAP1):c.82G>A (p.Val28Ile)	PGAP1 (V28I)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 2073033	NM_024989.4(PGAP1):c.684A>G (p.Leu228=)	PGAP1	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal recessive 42	GLikely benign
Select item 2070834	NM_024989.4(PGAP1):c.1426+17T>A	PGAP1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 42	GLikely benign
Select item 2069574	NM_024989.4(PGAP1):c.2018C>T (p.Thr673Ile)	PGAP1 (T284I +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 2068377	NM_024989.4(PGAP1):c.1346G>A (p.Ser449Asn)	PGAP1 (S60N +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 2067084	NM_024989.4(PGAP1):c.1085A>T (p.Tyr362Phe)	PGAP1 (Y188F +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 2066386	NM_024989.4(PGAP1):c.1953-14T>G	PGAP1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 42	GLikely benign
Select item 2065407	NM_024989.4(PGAP1):c.301+5G>A	PGAP1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 2065406	NM_024989.4(PGAP1):c.301+14G>A	PGAP1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 42	GLikely benign
Select item 2056748	NM_024989.4(PGAP1):c.2338-19C>T	PGAP1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 42	GBenign
Select item 2055256	NM_024989.4(PGAP1):c.573T>C (p.His191=)	PGAP1	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal recessive 42	GLikely benign
Select item 2054696	NM_024989.4(PGAP1):c.497A>G (p.Lys166Arg)	PGAP1 (K166R)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 2048656	NM_024989.4(PGAP1):c.2301A>G (p.Gln767=)	PGAP1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 42	GLikely benign
Select item 2047239	NM_024989.4(PGAP1):c.2072C>T (p.Thr691Met)	PGAP1 (T302M +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 2042743	NM_024989.4(PGAP1):c.790A>G (p.Ser264Gly)	PGAP1 (S264G +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 2042559	NM_024989.4(PGAP1):c.1621G>A (p.Ala541Thr)	PGAP1 (A367T +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 42	GLikely benign
Select item 2041694	NM_024989.4(PGAP1):c.148-9T>A	PGAP1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 42	GLikely benign
Select item 2041228	NM_024989.4(PGAP1):c.734G>A (p.Arg245Gln)	PGAP1 (R245Q +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 2039239	NM_024989.4(PGAP1):c.984C>T (p.His328=)	PGAP1	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal recessive 42	GLikely benign
Select item 2038122	NM_024989.4(PGAP1):c.104A>G (p.Asn35Ser)	PGAP1 (N35S)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 2032228	NM_024989.4(PGAP1):c.927+9T>A	PGAP1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 42	GLikely benign
Select item 2023123	NM_024989.4(PGAP1):c.807+13del	PGAP1	Deletion (intron variant)	Intellectual disability, autosomal recessive 42	GBenign
Select item 2023072	NM_024989.4(PGAP1):c.275del (p.Pro92fs)	PGAP1 (P92fs)	Deletion (5 prime UTR variant +1 more)	Intellectual disability, autosomal recessive 42	GPathogenic
Select item 2020972	NM_024989.4(PGAP1):c.511A>G (p.Ile171Val)	PGAP1 (I171V)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 2017514	NM_024989.4(PGAP1):c.477+12G>A	PGAP1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 42	GLikely benign
Select item 2017450	NM_024989.4(PGAP1):c.525G>A (p.Met175Ile)	PGAP1 (M175I +1 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 1994822	NM_024989.4(PGAP1):c.749G>C (p.Arg250Pro)	PGAP1 (R250P +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 1991599	NM_024989.4(PGAP1):c.251C>T (p.Thr84Met)	PGAP1 (T84M)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 1990579	NM_024989.4(PGAP1):c.2352T>C (p.Ser784=)	PGAP1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 42	GLikely benign
Select item 1989744	NM_024989.4(PGAP1):c.807+14A>G	PGAP1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 42	GLikely benign
Select item 1988943	NM_024989.4(PGAP1):c.43G>A (p.Val15Ile)	PGAP1 (V15I)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal recessive 42 +1 more	GUncertain significance

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