55768[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 2579214	GRCh38/hg38 3p24.2(chr3:25699606-25738988)x0	NGLY1	Copy number loss	Congenital disorder of deglycosylation 1	GPathogenic
Select item 1311473	NM_018297.4(NGLY1):c.1956T>A (p.Ser652Arg)	NGLY1 (S610R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 960047	NM_018297.4(NGLY1):c.1954A>G (p.Ser652Gly)	NGLY1 (S634G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1985574	NM_018297.4(NGLY1):c.1953C>T (p.Phe651=)	NGLY1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of deglycosylation	GLikely benign
Select item 1346747	NM_018297.4(NGLY1):c.1952_1953delinsAG (p.Phe651Ter)	NGLY1 (F651* +2 more)	Indel (nonsense +1 more)	Congenital disorder of deglycosylation	GUncertain significance
Select item 2026186	NM_018297.4(NGLY1):c.1950A>G (p.Lys650=)	NGLY1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of deglycosylation	GLikely benign
Select item 1385742	NM_018297.4(NGLY1):c.1945A>T (p.Ile649Leu)	NGLY1 (I607L +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of deglycosylation	GUncertain significance
Select item 2845723	NM_018297.4(NGLY1):c.1941A>C (p.Ile647=)	NGLY1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of deglycosylation	GLikely benign
Select item 1099140	NM_018297.4(NGLY1):c.1941A>T (p.Ile647=)	NGLY1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of deglycosylation	GLikely benign
Select item 1550977	NM_018297.4(NGLY1):c.1933T>C (p.Leu645=)	NGLY1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of deglycosylation	GLikely benign
Select item 2434351	NM_018297.4(NGLY1):c.1931G>A (p.Cys644Tyr)	NGLY1 (C602Y +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of deglycosylation 1	GUncertain significance
Select item 2097556	NM_018297.4(NGLY1):c.1923A>G (p.Glu641=)	NGLY1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of deglycosylation	GLikely benign
Select item 2984667	NM_018297.4(NGLY1):c.1920T>C (p.His640=)	NGLY1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of deglycosylation	GLikely benign
Select item 474221	NM_018297.4(NGLY1):c.1918C>T (p.His640Tyr)	NGLY1 (H598Y +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of deglycosylation +1 more	GConflicting classifications of pathogenicity
Select item 2002284	NM_018297.4(NGLY1):c.1917C>T (p.Asp639=)	NGLY1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of deglycosylation	GLikely benign
Select item 474220	NM_018297.4(NGLY1):c.1913A>G (p.Asn638Ser)	NGLY1 (N596S +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of deglycosylation +2 more	GUncertain significance
Select item 453046	NM_018297.4(NGLY1):c.1913del (p.Asn638fs)	NGLY1 (N596fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 221582	NM_018297.4(NGLY1):c.1910del (p.Ser636_Leu637insTer)	NGLY1	Deletion (nonsense +1 more)	not provided	GLikely pathogenic
Select item 1006283	NM_018297.4(NGLY1):c.1901G>C (p.Arg634Thr)	NGLY1 (R592T +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of deglycosylation	GUncertain significance
Select item 2011697	NM_018297.4(NGLY1):c.1894C>G (p.Leu632Val)	NGLY1 (L632V +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of deglycosylation	GUncertain significance
Select item 50961	NM_018297.4(NGLY1):c.1891del (p.Gln631fs)	NGLY1 (Q589fs +2 more)	Deletion (frameshift variant +1 more)	Congenital disorder of deglycosylation +2 more	GPathogenic
Select item 474219	NM_018297.4(NGLY1):c.1889C>A (p.Thr630Asn)	NGLY1 (T630N +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of deglycosylation +1 more	GUncertain significance
Select item 1095131	NM_018297.4(NGLY1):c.1887C>T (p.His629=)	NGLY1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of deglycosylation	GLikely benign
Select item 2015044	NM_018297.4(NGLY1):c.1882del (p.Gln628fs)	NGLY1 (Q586fs +2 more)	Deletion (frameshift variant +1 more)	Congenital disorder of deglycosylation	GPathogenic
Select item 986993	NM_018297.4(NGLY1):c.1881G>A (p.Trp627Ter)	NGLY1 (W585* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 1057463	NM_018297.4(NGLY1):c.1876G>A (p.Ala626Thr)	NGLY1 (A584T +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of deglycosylation	GUncertain significance
Select item 1109555	NM_018297.4(NGLY1):c.1875C>T (p.Val625=)	NGLY1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of deglycosylation	GLikely benign
Select item 474218	NM_018297.4(NGLY1):c.1875C>G (p.Val625=)	NGLY1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of deglycosylation	GLikely benign
Select item 650805	NM_018297.4(NGLY1):c.1868_1870del (p.Gly623del)	NGLY1 (G581del +2 more)	Deletion (inframe_deletion +1 more)	not provided +1 more	GUncertain significance
Select item 385013	NM_018297.4(NGLY1):c.1869T>C (p.Gly623=)	NGLY1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1011979	NM_018297.4(NGLY1):c.1858A>G (p.Arg620Gly)	NGLY1 (R578G +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of deglycosylation	GUncertain significance
Select item 1111974	NM_018297.4(NGLY1):c.1857C>T (p.Ser619=)	NGLY1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of deglycosylation +1 more	GLikely benign
Select item 1976596	NM_018297.4(NGLY1):c.1848A>G (p.Ala616=)	NGLY1 (Q557R)	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of deglycosylation	GLikely benign
Select item 1354550	NM_018297.4(NGLY1):c.1838T>C (p.Ile613Thr)	NGLY1 (I595T +3 more)	Single nucleotide variant (missense variant)	Congenital disorder of deglycosylation	GUncertain significance
Select item 988967	NM_018297.4(NGLY1):c.1837del (p.Ile613fs)	NGLY1 (I571fs +3 more)	Deletion (frameshift variant)	Congenital disorder of deglycosylation	GPathogenic
Select item 843773	NM_018297.4(NGLY1):c.1833A>C (p.Glu611Asp)	NGLY1 (E611D +3 more)	Single nucleotide variant (missense variant)	Congenital disorder of deglycosylation	GUncertain significance
Select item 935449	NM_018297.4(NGLY1):c.1829C>T (p.Thr610Ile)	NGLY1 (T568I +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of deglycosylation	GUncertain significance
Select item 817413	NM_018297.4(NGLY1):c.1819dup (p.Ser607fs)	NGLY1 (S565fs +3 more)	Duplication (frameshift variant)	Congenital disorder of deglycosylation +1 more	GPathogenic/Likely pathogenic
Select item 1379069	NM_018297.4(NGLY1):c.1808A>T (p.Tyr603Phe)	NGLY1 (Y561F +3 more)	Single nucleotide variant (missense variant)	Congenital disorder of deglycosylation	GUncertain significance
Select item 474217	NM_018297.4(NGLY1):c.1808A>G (p.Tyr603Cys)	NGLY1 (Y603C +3 more)	Single nucleotide variant (missense variant)	Congenital disorder of deglycosylation	GUncertain significance
Select item 1618714	NM_018297.4(NGLY1):c.1806C>T (p.Ser602=)	NGLY1 (P543L)	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of deglycosylation	GLikely benign
Select item 574032	NM_018297.4(NGLY1):c.1805C>G (p.Ser602Cys)	NGLY1 (S560C +3 more)	Single nucleotide variant (missense variant)	Congenital disorder of deglycosylation	GUncertain significance
Select item 1439691	NM_018297.4(NGLY1):c.1804T>C (p.Ser602Pro)	NGLY1 (S560P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1390446	NM_018297.4(NGLY1):c.1799T>C (p.Leu600Pro)	NGLY1 (L600P +3 more)	Single nucleotide variant (missense variant)	Congenital disorder of deglycosylation	GUncertain significance
Select item 1986760	NM_018297.4(NGLY1):c.1797T>A (p.Ser599Arg)	NGLY1 (S581R +3 more)	Single nucleotide variant (missense variant)	Congenital disorder of deglycosylation	GUncertain significance
Select item 2694330	NC_000003.12:g.25719635_25719641del	NGLY1	Deletion	Congenital disorder of deglycosylation	GPathogenic
Select item 947260	NM_018297.4(NGLY1):c.1796G>A (p.Ser599Asn)	NGLY1 (S581N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 571065	NM_018297.4(NGLY1):c.1795A>G (p.Ser599Gly)	NGLY1 (S557G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 795616	NM_018297.4(NGLY1):c.1794C>T (p.Asn598=)	NGLY1 (T539I)	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of deglycosylation	GLikely benign
Select item 2145769	NM_018297.4(NGLY1):c.1790A>T (p.Asp597Val)	NGLY1 (D597V +3 more)	Single nucleotide variant (missense variant)	Congenital disorder of deglycosylation	GUncertain significance
Select item 944356	NM_018297.4(NGLY1):c.1790A>G (p.Asp597Gly)	NGLY1 (D597G +3 more)	Single nucleotide variant (missense variant)	Congenital disorder of deglycosylation	GUncertain significance
Select item 1154378	NM_018297.4(NGLY1):c.1790-6T>C	NGLY1	Single nucleotide variant (intron variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 1423307	NM_018297.4(NGLY1):c.1790-7C>G	NGLY1	Single nucleotide variant (intron variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2809350	NM_018297.4(NGLY1):c.1790-9dup	NGLY1	Duplication (intron variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2848979	NM_018297.4(NGLY1):c.1790-13_1790-12dup	NGLY1	Duplication (intron variant)	Congenital disorder of deglycosylation	GBenign
Select item 1611777	NM_018297.4(NGLY1):c.1790-12dup	NGLY1	Duplication (intron variant)	Congenital disorder of deglycosylation	GBenign
Select item 1639686	NM_018297.4(NGLY1):c.1790-12T>C	NGLY1	Single nucleotide variant (intron variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 1570140	NM_018297.4(NGLY1):c.1790-12del	NGLY1	Deletion (intron variant)	Congenital disorder of deglycosylation +1 more	GBenign
Select item 1629424	NM_018297.4(NGLY1):c.1790-18T>A	NGLY1	Single nucleotide variant (intron variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 1191276	NM_018297.4(NGLY1):c.1790-80A>G	NGLY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207671	NM_018297.4(NGLY1):c.1789+174T>C	NGLY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1294411	NM_018297.4(NGLY1):c.1789+119dup	NGLY1	Duplication (intron variant)	not provided	GBenign
Select item 2779501	NM_018297.4(NGLY1):c.1789+20_1789+21del	NGLY1	Deletion (intron variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2966023	NM_018297.4(NGLY1):c.1789+18G>T	NGLY1	Single nucleotide variant (intron variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 681959	NM_018297.4(NGLY1):c.1789+17A>C	NGLY1	Single nucleotide variant (intron variant)	Congenital disorder of deglycosylation +1 more	GLikely benign
Select item 2852074	NM_018297.4(NGLY1):c.1789+16G>A	NGLY1	Single nucleotide variant (intron variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 1654968	NM_018297.4(NGLY1):c.1789+14T>G	NGLY1	Single nucleotide variant (intron variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2802243	NM_018297.4(NGLY1):c.1789+12C>G	NGLY1	Single nucleotide variant (intron variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 1088792	NM_018297.4(NGLY1):c.1789+8T>C	NGLY1	Single nucleotide variant (intron variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 489203	NM_018297.4(NGLY1):c.1789+5G>A	NGLY1	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 504346	NM_018297.4(NGLY1):c.1789+1G>T	NGLY1	Single nucleotide variant (splice donor variant +1 more)	not provided	GPathogenic
Select item 3063892	NM_018297.4(NGLY1):c.1789G>A (p.Asp597Asn)	NGLY1 (D555N +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of deglycosylation	GLikely pathogenic
Select item 861985	NM_018297.4(NGLY1):c.1788C>T (p.Gly596=)	NGLY1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of deglycosylation	GUncertain significance
Select item 1324809	NM_018297.4(NGLY1):c.1764_1785del (p.Asp588fs)	NGLY1 (D546fs +2 more)	Deletion (frameshift variant +1 more)	Congenital disorder of deglycosylation 1 +1 more	GPathogenic/Likely pathogenic
Select item 1040920	NM_018297.4(NGLY1):c.1781T>C (p.Leu594Pro)	NGLY1 (L594P +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of deglycosylation	GUncertain significance
Select item 1335504	NM_018297.4(NGLY1):c.1780C>T (p.Leu594=)	NGLY1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1610802	NM_018297.4(NGLY1):c.1776A>G (p.Val592=)	NGLY1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of deglycosylation	GLikely benign
Select item 567719	NM_018297.4(NGLY1):c.1773A>G (p.Gln591=)	NGLY1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of deglycosylation	GUncertain significance
Select item 1070987	NM_018297.4(NGLY1):c.1771C>T (p.Gln591Ter)	NGLY1 (Q549* +2 more)	Single nucleotide variant (nonsense +1 more)	Congenital disorder of deglycosylation	GPathogenic
Select item 541263	NM_018297.4(NGLY1):c.1771C>G (p.Gln591Glu)	NGLY1 (Q549E +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of deglycosylation	GUncertain significance
Select item 1569541	NM_018297.4(NGLY1):c.1767A>G (p.Thr589=)	NGLY1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of deglycosylation	GLikely benign
Select item 2050203	NM_018297.4(NGLY1):c.1765A>G (p.Thr589Ala)	NGLY1 (T547A +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of deglycosylation	GUncertain significance
Select item 2708150	NM_018297.4(NGLY1):c.1764T>C (p.Asp588=)	NGLY1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of deglycosylation	GLikely benign
Select item 2020329	NM_018297.4(NGLY1):c.1758A>G (p.Arg586=)	NGLY1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of deglycosylation	GLikely benign
Select item 2416694	NM_018297.4(NGLY1):c.1757G>T (p.Arg586Leu)	NGLY1 (R544L +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of deglycosylation	GUncertain significance
Select item 944307	NM_018297.4(NGLY1):c.1757G>A (p.Arg586Gln)	NGLY1 (R568Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2287190	NM_018297.4(NGLY1):c.1756C>T (p.Arg586Ter)	NGLY1 (R544* +2 more)	Single nucleotide variant (nonsense +1 more)	Congenital disorder of deglycosylation +2 more	GPathogenic
Select item 1356888	NM_018297.4(NGLY1):c.1756C>G (p.Arg586Gly)	NGLY1 (R544G +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of deglycosylation	GUncertain significance
Select item 1616841	NM_018297.4(NGLY1):c.1752A>G (p.Lys584=)	NGLY1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of deglycosylation	GLikely benign
Select item 2858034	NM_018297.4(NGLY1):c.1749G>A (p.Trp583Ter)	NGLY1 (W565* +2 more)	Single nucleotide variant (nonsense +1 more)	Congenital disorder of deglycosylation	GPathogenic
Select item 1073150	NM_018297.4(NGLY1):c.1748G>A (p.Trp583Ter)	NGLY1 (W541* +2 more)	Single nucleotide variant (nonsense +1 more)	Congenital disorder of deglycosylation	GPathogenic
Select item 2748475	NM_018297.4(NGLY1):c.1746del (p.Glu582fs)	NGLY1 (E564fs +2 more)	Deletion (frameshift variant +1 more)	Congenital disorder of deglycosylation	GPathogenic
Select item 2058074	NM_018297.4(NGLY1):c.1745A>G (p.Glu582Gly)	NGLY1 (E564G +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of deglycosylation	GUncertain significance
Select item 748238	NM_018297.4(NGLY1):c.1743A>G (p.Val581=)	NGLY1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of deglycosylation +1 more	GLikely benign
Select item 474216	NM_018297.4(NGLY1):c.1740A>G (p.Thr580=)	NGLY1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of deglycosylation +1 more	GLikely benign
Select item 2067984	NM_018297.4(NGLY1):c.1736del (p.Gly579fs)	NGLY1 (G537fs +2 more)	Deletion (frameshift variant +1 more)	Congenital disorder of deglycosylation	GPathogenic

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