25712[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 146616	GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1	ANKAR, ANKRD44 +329 more	Copy number loss	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 57395	GRCh38/hg38 2q32.3-33.1(chr2:194515159-198545937)x1	ANKRD44, ANKRD44-AS1 +118 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146015	GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1	ABI2, ALS2 +279 more	Copy number loss	See cases	GPathogenic
Select item 1275518	NM_024989.4(PGAP1):c.*205G>C	PGAP1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1678381	NM_024989.4(PGAP1):c.*173A>G	PGAP1	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 1962147	NM_024989.4(PGAP1):c.2764A>G (p.Met922Val)	PGAP1 (M533V +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 42	GUncertain significance
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 1164203	NM_024989.4(PGAP1):c.2734C>T (p.Pro912Ser)	PGAP1 (P523S +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 42 +2 more	GBenign/Likely benign
Select item 1613868	NM_024989.4(PGAP1):c.2724T>C (p.Phe908=)	PGAP1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 42	GLikely benign
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 580913	NM_024989.4(PGAP1):c.2690T>C (p.Phe897Ser)	PGAP1 (F897S +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 707524	NM_024989.4(PGAP1):c.2655A>G (p.Gln885=)	PGAP1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 42	GLikely benign
Select item 707756	NM_024989.4(PGAP1):c.2647A>G (p.Thr883Ala)	PGAP1 (T494A +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 42 +1 more	GLikely benign
Select item 541838	NM_024989.4(PGAP1):c.2643G>C (p.Lys881Asn)	PGAP1 (K881N +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 1011201	NM_024989.4(PGAP1):c.2642A>G (p.Lys881Arg)	PGAP1 (K492R +2 more)	Single nucleotide variant (missense variant)	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 1204985	NM_024989.4(PGAP1):c.2630+191dup	PGAP1	Duplication (intron variant)	not provided	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 1630202	NM_024989.4(PGAP1):c.2630+15T>C	PGAP1	Single nucleotide variant (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 946366	NM_024989.4(PGAP1):c.2607_2610dup (p.Thr871fs)	PGAP1 (T482fs +2 more)	Duplication (frameshift variant)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 3336617	NM_024989.4(PGAP1):c.2607_2610del (p.Tyr870fs)	PGAP1 (Y481fs +2 more)	Deletion (frameshift variant)	Intellectual disability, autosomal recessive 42	GPathogenic
Select item 703891	NM_024989.4(PGAP1):c.2604T>C (p.Asn868=)	PGAP1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +2 more	GBenign/Likely benign
Select item 2663550	NM_024989.4(PGAP1):c.2591C>T (p.Ala864Val)	PGAP1 (A475V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1449914	NM_024989.4(PGAP1):c.2587A>G (p.Met863Val)	PGAP1 (M689V +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 1364518	NM_024989.4(PGAP1):c.2551C>T (p.Pro851Ser)	PGAP1 (P851S +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 1516252	NM_024989.4(PGAP1):c.2548G>T (p.Asp850Tyr)	PGAP1 (D461Y +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 1910225	NM_024989.4(PGAP1):c.2537A>T (p.Lys846Ile)	PGAP1 (K457I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3305928	NM_024989.4(PGAP1):c.2530T>A (p.Tyr844Asn)	PGAP1 (Y670N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1344455	NM_024989.4(PGAP1):c.2526-7A>G	PGAP1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1708878	NM_024989.4(PGAP1):c.2525+161G>T	PGAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1512552	NM_024989.4(PGAP1):c.2525+5G>A	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 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 1169410	NM_024989.4(PGAP1):c.2467C>G (p.Leu823Val)	PGAP1 (L434V +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 42 +2 more	GConflicting classifications of pathogenicity
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 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 1336637	NM_024989.4(PGAP1):c.2440C>T (p.Arg814Cys)	PGAP1 (R425C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708441	NM_024989.4(PGAP1):c.2438T>C (p.Leu813Pro)	PGAP1 (L424P +2 more)	Single nucleotide variant (missense variant)	See cases	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 719760	NM_024989.4(PGAP1):c.2421C>T (p.Asn807=)	PGAP1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 42	GLikely benign
Select item 436289	NM_024989.4(PGAP1):c.2408G>A (p.Arg803His)	PGAP1 (R803H +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 42 +1 more	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 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 1344454	NM_024989.4(PGAP1):c.2393C>T (p.Ser798Leu)	PGAP1 (S409L +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344452	NM_024989.4(PGAP1):c.2388C>T (p.Asp796=)	PGAP1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 42 +1 more	GConflicting classifications of pathogenicity
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 645573	NM_024989.4(PGAP1):c.2375A>G (p.Asn792Ser)	PGAP1 (N618S +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
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 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 503954	NM_024989.4(PGAP1):c.2357_2358insTA (p.Arg786fs)	PGAP1 (R612fs +2 more)	Insertion (frameshift variant)	Intellectual disability, autosomal recessive 42 +2 more	GPathogenic
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 1390764	NM_024989.4(PGAP1):c.2351C>G (p.Ser784Cys)	PGAP1 (S610C +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 571870	NM_024989.4(PGAP1):c.2338-2A>C	PGAP1	Single nucleotide variant (splice acceptor variant)	Intellectual disability, autosomal recessive 42	GLikely pathogenic
Select item 1671710	NM_024989.4(PGAP1):c.2338-13T>C	PGAP1	Single nucleotide variant (intron 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 2056748	NM_024989.4(PGAP1):c.2338-19C>T	PGAP1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 42	GBenign
Select item 1260196	NM_024989.4(PGAP1):c.2338-82T>C	PGAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278602	NM_024989.4(PGAP1):c.2337+74del	PGAP1	Deletion (intron variant)	not provided	GBenign
Select item 1931265	NM_024989.4(PGAP1):c.2332C>A (p.Pro778Thr)	PGAP1 (P778T +2 more)	Single nucleotide variant (missense variant)	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 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 704261	NM_024989.4(PGAP1):c.2313A>G (p.Thr771=)	PGAP1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 42	GLikely benign
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 705025	NM_024989.4(PGAP1):c.2287G>A (p.Val763Ile)	PGAP1 (V374I +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 42	GConflicting classifications of pathogenicity
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 1600606	NM_024989.4(PGAP1):c.2287-11A>G	PGAP1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 42	GBenign
Select item 1926050	NM_024989.4(PGAP1):c.2287-12T>C	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 1275489	NM_024989.4(PGAP1):c.2286+279dup	PGAP1	Duplication (intron variant)	not provided	GBenign
Select item 1193339	NM_024989.4(PGAP1):c.2286+293del	PGAP1	Deletion (intron variant)	not provided	GLikely benign
Select item 1253727	NM_024989.4(PGAP1):c.2286+64T>C	PGAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1571283	NM_024989.4(PGAP1):c.2286+20C>G	PGAP1	Single nucleotide variant (intron variant)	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 2167979	NM_024989.4(PGAP1):c.2286+11T>C	PGAP1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 42	GLikely benign
Select item 390488	NM_024989.4(PGAP1):c.2286+6T>G	PGAP1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 489401	NM_024989.4(PGAP1):c.2286+5G>A	PGAP1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 1477187	NM_024989.4(PGAP1):c.2286+1G>A	PGAP1	Single nucleotide variant (splice donor variant)	Intellectual disability, autosomal recessive 42	GLikely pathogenic
Select item 660021	NM_024989.4(PGAP1):c.2276A>G (p.Tyr759Cys)	PGAP1 (Y370C +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 801847	NM_024989.4(PGAP1):c.2274C>G (p.Tyr758Ter)	PGAP1 (Y369* +2 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal recessive 42	GPathogenic/Likely pathogenic
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 436298	NM_024989.4(PGAP1):c.2204T>A (p.Leu735Ter)	PGAP1 (L735* +2 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal recessive 42	GLikely pathogenic
Select item 2474508	NM_024989.4(PGAP1):c.2199del (p.Phe734_Leu735insTer)	PGAP1	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 1651546	NM_024989.4(PGAP1):c.2199C>T (p.Pro733=)	PGAP1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 42	GLikely benign
Select item 809133	NM_024989.4(PGAP1):c.2197C>T (p.Pro733Ser)	PGAP1 (P559S +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 42 +1 more	GUncertain significance
Select item 1344451	NM_024989.4(PGAP1):c.2174T>A (p.Ile725Asn)	PGAP1 (I336N +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 42 +2 more	GUncertain significance
Select item 1708446	NM_024989.4(PGAP1):c.2165C>T (p.Pro722Leu)	PGAP1 (P333L +2 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1235856	NM_024989.4(PGAP1):c.2151-46A>G	PGAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1638197	NM_024989.4(PGAP1):c.2150+9_2150+10insA	PGAP1	Insertion (intron variant)	Intellectual disability, autosomal recessive 42	GLikely benign
Select item 1910085	NM_024989.4(PGAP1):c.2141C>T (p.Ala714Val)	PGAP1 (A714V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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