"GeneDx"[submitter] AND "AGA"[gene] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 59512	GRCh38/hg38 4q34.1-35.1(chr4:174080892-183195538)x1	ADAM29, AGA +103 more	Copy number loss	See cases	GPathogenic
Select item 152445	GRCh38/hg38 4q34.3(chr4:177346067-177579894)x1	AGA, AGA-DT +6 more	Copy number loss	See cases	GBenign
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 348224	NM_000027.4(AGA):c.*183A>C	AGA	Single nucleotide variant (3 prime UTR variant +1 more)	Aspartylglucosaminuria +1 more	GBenign
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 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 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 1766281	NM_000027.4(AGA):c.923A>G (p.Asn308Ser)	AGA (N298S +1 more)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria +2 more	GUncertain significance
Select item 377364	NM_000027.4(AGA):c.902T>C (p.Phe301Ser)	AGA (F301S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 991945	NM_000027.4(AGA):c.833GAG[1] (p.Gly279del)	AGA (G269del +1 more)	Microsatellite (inframe_deletion +1 more)	Aspartylglucosaminuria +1 more	GUncertain significance
Select item 683253	NM_000027.4(AGA):c.807-166G>T	AGA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683252	NM_000027.4(AGA):c.807-179T>A	AGA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209231	NM_000027.4(AGA):c.806+232A>G	AGA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248167	NM_000027.4(AGA):c.806+202C>G	AGA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 225	NM_000027.4(AGA):c.800dup (p.Pro268fs)	AGA (P258fs +1 more)	Duplication (frameshift variant +1 more)	Aspartylglucosaminuria +2 more	GPathogenic/Likely pathogenic
Select item 1312826	NM_000027.4(AGA):c.785T>C (p.Ile262Thr)	AGA (I252T +1 more)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria +1 more	GUncertain significance
Select item 55952	NM_000027.4(AGA):c.755G>A (p.Gly252Glu)	AGA (G252E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 558962	NM_000027.4(AGA):c.699-25G>C	AGA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 683243	NM_000027.4(AGA):c.699-237G>A	AGA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279169	NM_000027.4(AGA):c.698+64G>A	AGA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 55950	NM_000027.4(AGA):c.677G>A (p.Gly226Asp)	AGA (G226D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 348233	NM_000027.4(AGA):c.623-7C>T	AGA	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1250611	NM_000027.4(AGA):c.623-67_623-62dup	AGA	Duplication (intron variant)	not provided	GBenign
Select item 1207474	NM_000027.4(AGA):c.623-173C>T	AGA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217513	NM_000027.4(AGA):c.623-284C>T	AGA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187544	NM_000027.4(AGA):c.622+252del	AGA	Deletion (intron variant)	not provided	GLikely benign
Select item 348234	NM_000027.4(AGA):c.622+13T>C	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria +1 more	GConflicting classifications of pathogenicity
Select item 373678	NM_000027.4(AGA):c.508-2A>G	AGA	Single nucleotide variant (splice acceptor variant)	Aspartylglucosaminuria +1 more	GLikely pathogenic
Select item 1187161	NM_000027.4(AGA):c.508-193G>A	AGA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1238985	NM_000027.4(AGA):c.507+220A>G	AGA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254787	NM_000027.4(AGA):c.507+180T>C	AGA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1312699	NM_000027.4(AGA):c.464A>G (p.His155Arg)	AGA (H155R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 92308	NM_000027.4(AGA):c.446C>G (p.Thr149Ser)	AGA (T149S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 55947	NM_000027.4(AGA):c.439T>C (p.Ser147Pro)	AGA (S147P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 427059	NM_000027.4(AGA):c.436T>G (p.Leu146Val)	AGA (L146V)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria +1 more	GConflicting classifications of pathogenicity
Select item 1234019	NM_000027.4(AGA):c.395-134G>A	AGA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213421	NM_000027.4(AGA):c.395-155G>A	AGA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683241	NM_000027.4(AGA):c.395-185A>G	AGA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219850	NM_000027.4(AGA):c.395-254C>T	AGA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197942	NM_000027.4(AGA):c.394+285C>A	AGA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683240	NM_000027.4(AGA):c.394+254G>T	AGA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252917	NM_000027.4(AGA):c.394+180G>A	AGA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220079	NM_000027.4(AGA):c.282-157G>C	AGA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683239	NM_000027.4(AGA):c.282-176del	AGA	Deletion (intron variant)	not provided	GBenign
Select item 1287227	NM_000027.4(AGA):c.282-209G>T	AGA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258658	NM_000027.4(AGA):c.281+265A>G	AGA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 92307	NM_000027.4(AGA):c.281+13T>G	AGA	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1253701	NM_000027.4(AGA):c.128-41A>T	AGA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271133	NM_000027.4(AGA):c.128-238_128-237dup	AGA	Duplication (intron variant)	not provided	GBenign
Select item 1259238	NM_000027.4(AGA):c.128-226del	AGA	Deletion (intron variant)	not provided	GBenign
Select item 1190814	NM_000027.4(AGA):c.128-267C>T	AGA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211739	NM_000027.4(AGA):c.127+203C>T	AGA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 558965	NM_000027.4(AGA):c.127+25C>T	AGA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 495346	NM_000027.4(AGA):c.101_107del (p.Trp34fs)	AGA (W34fs)	Deletion (frameshift variant +1 more)	Aspartylglucosaminuria +1 more	GPathogenic
Select item 1312698	NM_000027.4(AGA):c.49T>C (p.Cys17Arg)	AGA (C17R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 188964	NM_000027.4(AGA):c.34G>T (p.Val12Leu)	AGA (V12L)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria +1 more	GConflicting classifications of pathogenicity
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	SCOC, SCRG1 +218 more	Copy number gain	See cases	GPathogenic
Select item 253590	GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3	AADAT, ABCE1 +142 more	Copy number gain	See cases	GPathogenic
Select item 253508	GRCh37/hg19 4q34.1-35.2(chr4:176270886-190713650)x1	ACSL1, AGA +43 more	Copy number loss	See cases	GPathogenic
Select item 253406	GRCh37/hg19 4q34.3-35.2(chr4:178243625-190713650)x1	ACSL1, AGA +37 more	Copy number loss	See cases	GPathogenic
Select item 3362224	NM_000027.4(AGA):c.21G>T (p.Leu7Phe)	AGA (L7F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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Items: 66