ClinVar for Gene (Select 80055) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3062594	GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1	ABI2, ACADL +95 more	Copy number loss	not specified	GPathogenic
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 (5 prime UTR 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 2692444	NM_024989.4(PGAP1):c.2209A>G (p.Ile737Val)	PGAP1 (I737V +2 more)	Single nucleotide variant (missense variant)	not provided	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 2685871	GRCh37/hg19 2q32.3-33.1(chr2:197241559-198122706)x3	ANKRD44, C2orf66 +4 more	Copy number gain	not provided	GUncertain significance
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 2663550	NM_024989.4(PGAP1):c.2591C>T (p.Ala864Val)	PGAP1 (A475V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2627877	NM_024989.4(PGAP1):c.1351-1G>T	PGAP1	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2589809	NM_024989.4(PGAP1):c.1340G>A (p.Arg447His)	PGAP1 (R58H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2578223	NM_024989.4(PGAP1):c.2051T>A (p.Leu684Ter)	PGAP1 (L295* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2559700	NM_024989.4(PGAP1):c.2005G>A (p.Ala669Thr)	PGAP1 (A495T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546440	NM_024989.4(PGAP1):c.2443A>G (p.Met815Val)	PGAP1 (M641V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544678	NM_024989.4(PGAP1):c.1339C>T (p.Arg447Cys)	PGAP1 (R273C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528568	NM_024989.4(PGAP1):c.2039C>G (p.Pro680Arg)	PGAP1 (P506R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2502807	NM_024989.4(PGAP1):c.1318GTT[1] (p.Val441del)	PGAP1 (V267del +2 more)	Microsatellite (inframe_deletion)	not provided	GLikely pathogenic
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 2493822	NM_024989.4(PGAP1):c.1950G>C (p.Leu650Phe)	PGAP1 (L650F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488159	NM_024989.4(PGAP1):c.1264A>G (p.Thr422Ala)	PGAP1 (T248A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474508	NM_024989.4(PGAP1):c.2199del (p.Phe734_Leu735insTer)	PGAP1	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2471915	NM_024989.4(PGAP1):c.1793T>C (p.Leu598Pro)	PGAP1 (L209P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456338	NM_024989.4(PGAP1):c.2407C>T (p.Arg803Cys)	PGAP1 (R414C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2400145	NM_024989.4(PGAP1):c.745G>A (p.Val249Ile)	PGAP1 (V75I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2397252	NM_024989.4(PGAP1):c.2008G>A (p.Val670Ile)	PGAP1 (V281I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2323551	NM_024989.4(PGAP1):c.439G>A (p.Val147Ile)	PGAP1 (V147I)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2313334	NM_024989.4(PGAP1):c.1877A>G (p.Tyr626Cys)	PGAP1 (Y452C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304635	NM_024989.4(PGAP1):c.2513T>C (p.Leu838Pro)	PGAP1 (L449P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298725	NM_024989.4(PGAP1):c.881C>A (p.Thr294Asn)	PGAP1 (T120N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2288767	NM_024989.4(PGAP1):c.698T>G (p.Ile233Arg)	PGAP1 (I233R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2269125	NM_024989.4(PGAP1):c.1958A>C (p.Lys653Thr)	PGAP1 (K264T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264845	NM_024989.4(PGAP1):c.1844A>G (p.Tyr615Cys)	PGAP1 (Y441C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264734	NM_024989.4(PGAP1):c.425A>C (p.Lys142Thr)	PGAP1 (K142T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2238379	NM_024989.4(PGAP1):c.781C>T (p.His261Tyr)	PGAP1 (H261Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2228005	NM_024989.4(PGAP1):c.1948T>A (p.Leu650Met)	PGAP1 (L261M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227998	NM_024989.4(PGAP1):c.478-4A>G	PGAP1	Single nucleotide variant (intron variant)	Inborn genetic diseases	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)	not provided +1 more	GUncertain significance

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