318[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 152441	GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3	AADAT, ACSL1 +553 more	Copy number gain	See cases	GPathogenic
Select item 57053	GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3	MTNR1A, NAF1 +535 more	Copy number gain	See cases	GPathogenic
Select item 59505	GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1	LOC129993482, LOC129993483 +509 more	Copy number loss	See cases	GPathogenic
Select item 151716	GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1	LOC129993424, LOC129993425 +485 more	Copy number loss	See cases	GPathogenic
Select item 148458	GRCh38/hg38 4q32.3-35.2(chr4:166317587-190095391)x1	MIR4455, MIR548T +466 more	Copy number loss	See cases	GPathogenic
Select item 153168	GRCh38/hg38 4q32.3-34.3(chr4:166630207-179820960)	AADAT, ADAM29 +178 more	Copy number loss	See cases	GPathogenic
Select item 153653	GRCh38/hg38 4q32.3-35.2(chr4:167373716-190036318)x1	LOC129993469, LOC129993470 +455 more	Copy number loss	See cases	GPathogenic
Select item 155264	GRCh38/hg38 4q32.3-35.2(chr4:168119317-190095391)x3	LOC129993480, LOC129993481 +451 more	Copy number gain	See cases	GPathogenic
Select item 154300	GRCh38/hg38 4q32.3-35.2(chr4:168970400-186936738)x1	AADAT, ACSL1 +386 more	Copy number loss	See cases	GPathogenic
Select item 151692	GRCh38/hg38 4q33-35.2(chr4:169873508-190018185)x1	AADAT, ACSL1 +399 more	Copy number loss	See cases	GPathogenic
Select item 149543	GRCh38/hg38 4q33-35.2(chr4:169901205-190095391)x3	SAP30-DT, SCRG1 +401 more	Copy number gain	See cases	GUncertain significance
Select item 155165	GRCh38/hg38 4q33-35.2(chr4:170899124-190036318)x1	LOC126807230, LOC126807231 +383 more	Copy number loss	See cases	GPathogenic
Select item 59507	GRCh38/hg38 4q34.1-35.2(chr4:171507704-189869726)x1	UFSP2, VEGFC +375 more	Copy number loss	See cases	GPathogenic
Select item 59508	GRCh38/hg38 4q34.1-34.3(chr4:171851295-178772816)x1	ADAM29, AGA +85 more	Copy number loss	See cases	GPathogenic
Select item 58061	GRCh38/hg38 4q34.1-35.2(chr4:172200228-189975519)x3	MIR4455, MIR548T +369 more	Copy number gain	See cases	GPathogenic
Select item 59510	GRCh38/hg38 4q34.1-35.2(chr4:172356988-189975519)x1	ACSL1, ADAM29 +369 more	Copy number loss	See cases	GPathogenic
Select item 155012	GRCh38/hg38 4q34.1-35.2(chr4:172501374-190095332)x1	ACSL1, ADAM29 +372 more	Copy number loss	See cases	GPathogenic
Select item 57133	GRCh38/hg38 4q34.1-35.2(chr4:173599911-188624331)x1	ACSL1, ADAM29 +322 more	Copy number loss	See cases	GPathogenic
Select item 59511	GRCh38/hg38 4q34.1-35.2(chr4:173754675-189343295)x1	ACSL1, ADAM29 +330 more	Copy number loss	See cases	GPathogenic
Select item 146879	GRCh38/hg38 4q34.1-35.2(chr4:173854560-189548183)x1	ACSL1, ADAM29 +330 more	Copy number loss	See cases	GPathogenic
Select item 152991	GRCh38/hg38 4q34.1-35.2(chr4:173989029-189975519)x1	FLJ38576, FRG1 +339 more	Copy number loss	See cases	GPathogenic
Select item 59512	GRCh38/hg38 4q34.1-35.1(chr4:174080892-183195538)x1	ADAM29, AGA +103 more	Copy number loss	See cases	GPathogenic
Select item 59513	GRCh38/hg38 4q34.1-34.3(chr4:175013055-181652375)x1	AGA, AGA-DT +59 more	Copy number loss	See cases	GPathogenic
Select item 57505	GRCh38/hg38 4q34.2-35.2(chr4:175483683-189975519)x1	ACSL1, AGA +324 more	Copy number loss	See cases	GPathogenic
Select item 155559	GRCh38/hg38 4q34.3-35.2(chr4:176756632-189621964)x1	ACSL1, AGA +293 more	Copy number loss	See cases	GLikely pathogenic
Select item 152445	GRCh38/hg38 4q34.3(chr4:177346067-177579894)x1	AGA, AGA-DT +6 more	Copy number loss	See cases	GBenign
Select item 902807	NM_000027.4(AGA):c.*915G>A	AGA	Single nucleotide variant (3 prime UTR variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 902808	NM_000027.4(AGA):c.*882A>C	AGA	Single nucleotide variant (3 prime UTR variant +1 more)	Aspartylglucosaminuria	GBenign
Select item 348214	NM_000027.4(AGA):c.*868C>G	AGA	Single nucleotide variant (3 prime UTR variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 902809	NM_000027.4(AGA):c.*856C>G	AGA	Single nucleotide variant (3 prime UTR variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 348215	NM_000027.4(AGA):c.*852C>T	AGA	Single nucleotide variant (3 prime UTR variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 900248	NM_000027.4(AGA):c.*851G>A	AGA	Single nucleotide variant (3 prime UTR variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 348216	NM_000027.4(AGA):c.*850C>T	AGA	Single nucleotide variant (3 prime UTR variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 348217	NM_000027.4(AGA):c.*819CT[2]	AGA	Microsatellite (3 prime UTR variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 348218	NM_000027.4(AGA):c.*752G>C	AGA	Single nucleotide variant (3 prime UTR variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 348219	NM_000027.4(AGA):c.*718G>A	AGA	Single nucleotide variant (3 prime UTR variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 348220	NM_000027.4(AGA):c.*680G>A	AGA	Single nucleotide variant (3 prime UTR variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 900249	NM_000027.4(AGA):c.*635A>G	AGA	Single nucleotide variant (3 prime UTR variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 900250	NM_000027.4(AGA):c.*457A>G	AGA	Single nucleotide variant (3 prime UTR variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 348221	NM_000027.4(AGA):c.*317T>C	AGA	Single nucleotide variant (3 prime UTR variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 348222	NM_000027.4(AGA):c.*220G>C	AGA	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 901403	NM_000027.4(AGA):c.*219T>C	AGA	Single nucleotide variant (3 prime UTR variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 348223	NM_000027.4(AGA):c.*207T>C	AGA	Single nucleotide variant (3 prime UTR variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 348224	NM_000027.4(AGA):c.*183A>C	AGA	Single nucleotide variant (3 prime UTR variant +1 more)	Aspartylglucosaminuria +1 more	GBenign
Select item 901404	NM_000027.4(AGA):c.*136T>C	AGA	Single nucleotide variant (3 prime UTR variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 348225	NM_000027.4(AGA):c.*96A>T	AGA	Single nucleotide variant (3 prime UTR variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 348226	NM_000027.4(AGA):c.*48G>A	AGA	Single nucleotide variant (3 prime UTR variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 901405	NM_000027.4(AGA):c.*35G>C	AGA	Single nucleotide variant (3 prime UTR variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 901960	NM_000027.4(AGA):c.*13G>C	AGA	Single nucleotide variant (3 prime UTR variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 348227	NM_000027.4(AGA):c.*8T>C	AGA	Single nucleotide variant (3 prime UTR variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 991942	NM_000027.4(AGA):c.*3C>T	AGA	Single nucleotide variant (3 prime UTR variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 2764092	NM_000027.4(AGA):c.1038C>A (p.Ile346=)	AGA	Single nucleotide variant (synonymous variant +1 more)	Aspartylglucosaminuria	GLikely benign
Select item 2438916	NM_000027.4(AGA):c.1033T>C (p.Cys345Arg)	AGA (C335R +1 more)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 579942	NM_000027.4(AGA):c.1030G>C (p.Asp344His)	AGA (D344H +1 more)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 348228	NM_000027.4(AGA):c.1023A>G (p.Glu341=)	AGA	Single nucleotide variant (synonymous variant +1 more)	Aspartylglucosaminuria +1 more	GConflicting classifications of pathogenicity
Select item 2673000	NM_000027.4(AGA):c.1017_1018del (p.Glu340fs)	AGA (E330fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1879068	NM_000027.4(AGA):c.1018G>T (p.Glu340Ter)	AGA (E330* +1 more)	Single nucleotide variant (nonsense +1 more)	Aspartylglucosaminuria	GPathogenic
Select item 1655148	NM_000027.4(AGA):c.1017T>G (p.Thr339=)	AGA	Single nucleotide variant (synonymous variant +1 more)	Aspartylglucosaminuria	GLikely benign
Select item 2175621	NM_000027.4(AGA):c.1007dup (p.Asn336fs)	AGA (N336fs +1 more)	Duplication (frameshift variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 2095145	NM_000027.4(AGA):c.1007del (p.Asn336fs)	AGA (N336fs +1 more)	Deletion (frameshift variant +1 more)	Aspartylglucosaminuria +1 more	GUncertain significance
Select item 1412569	NM_000027.4(AGA):c.1006A>C (p.Asn336His)	AGA (N326H +1 more)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 2203596	NM_000027.4(AGA):c.1000G>T (p.Glu334Ter)	AGA (E324* +1 more)	Single nucleotide variant (nonsense +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 2160133	NM_000027.4(AGA):c.1000G>A (p.Glu334Lys)	AGA (E324K +1 more)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 1106448	NM_000027.4(AGA):c.999C>G (p.Ser333=)	AGA	Single nucleotide variant (synonymous variant +1 more)	Aspartylglucosaminuria	GLikely benign
Select item 798466	NM_000027.4(AGA):c.999C>T (p.Ser333=)	AGA	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 552400	NM_000027.4(AGA):c.993T>G (p.Tyr331Ter)	AGA (Y331* +1 more)	Single nucleotide variant (nonsense +1 more)	Aspartylglucosaminuria	GLikely pathogenic
Select item 1025178	NM_000027.4(AGA):c.987G>C (p.Met329Ile)	AGA (M319I +1 more)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 991943	NM_000027.4(AGA):c.979A>G (p.Ser327Gly)	AGA (S317G +1 more)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria +1 more	GUncertain significance
Select item 1105684	NM_000027.4(AGA):c.978T>C (p.Phe326=)	AGA	Single nucleotide variant (synonymous variant +1 more)	Aspartylglucosaminuria +1 more	GLikely benign
Select item 991944	NM_000027.4(AGA):c.978T>G (p.Phe326Leu)	AGA (F316L +1 more)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 975324	NM_000027.4(AGA):c.971C>T (p.Thr324Ile)	AGA (T314I +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GLikely benign
Select item 1597170	NM_000027.4(AGA):c.966A>G (p.Thr322=)	AGA	Single nucleotide variant (synonymous variant +1 more)	Aspartylglucosaminuria	GLikely benign
Select item 387711	NM_000027.4(AGA):c.965C>T (p.Thr322Ile)	AGA (T322I +1 more)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria +3 more	GBenign/Likely benign
Select item 2746767	NM_000027.4(AGA):c.960T>G (p.Leu320=)	AGA	Single nucleotide variant (synonymous variant +1 more)	Aspartylglucosaminuria	GLikely benign
Select item 2870779	NM_000027.4(AGA):c.948T>C (p.Ala316=)	AGA	Single nucleotide variant (synonymous variant +1 more)	Aspartylglucosaminuria	GLikely benign
Select item 2680761	NM_000027.4(AGA):c.941-1G>T	AGA	Single nucleotide variant (splice acceptor variant)	Aspartylglucosaminuria	GLikely pathogenic
Select item 552967	NM_000027.4(AGA):c.941-2A>G	AGA	Single nucleotide variant (splice acceptor variant)	Aspartylglucosaminuria	GLikely pathogenic
Select item 761535	NM_000027.4(AGA):c.941-5C>T	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 1106469	NM_000027.4(AGA):c.941-7G>T	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 1083286	NM_000027.4(AGA):c.941-8G>T	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 2710665	NM_000027.4(AGA):c.941-17C>T	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 2828999	NM_000027.4(AGA):c.941-20T>C	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 683254	NM_000027.4(AGA):c.941-84C>G	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria +1 more	GBenign
Select item 1707271	NM_000027.4(AGA):c.941-243CAA[3]	AGA	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1707295	NM_000027.4(AGA):c.941-253G>A	AGA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2064652	NM_000027.4(AGA):c.940+20T>C	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 2746757	NM_000027.4(AGA):c.940+13T>C	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 1665777	NM_000027.4(AGA):c.940+9T>C	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 1644657	NM_000027.4(AGA):c.940+8G>T	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 1109116	NM_000027.4(AGA):c.940+8G>A	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 555229	NM_000027.4(AGA):c.940+1G>A	AGA	Single nucleotide variant (splice donor variant)	Aspartylglucosaminuria	GPathogenic/Likely pathogenic
Select item 227	NM_000027.4(AGA):c.940+1G>T	AGA	Single nucleotide variant (splice donor variant)	Aspartylglucosaminuria	GPathogenic/Likely pathogenic
Select item 1506210	NM_000027.4(AGA):c.940G>A (p.Gly314Ser)	AGA (G314S +1 more)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria	GUncertain significance

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