"GeneDx"[submitter] AND "EEF2KMT"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 59428	GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1	ADCY9, ALG1 +262 more	Copy number loss	See cases	GPathogenic
Select item 1279388	NM_019109.5(ALG1):c.1264-305A>G	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1251364	NM_019109.5(ALG1):c.1264-251C>T	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1214429	NM_019109.5(ALG1):c.1264-199C>T	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1213047	NM_019109.5(ALG1):c.1264-152G>C	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 508301	NM_019109.5(ALG1):c.1264-16C>T	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 382966	NM_019109.5(ALG1):c.1281T>C (p.Phe427=)	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 194258	NM_019109.5(ALG1):c.1287T>A (p.Asp429Glu)	ALG1, EEF2KMT (D318E)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 1591223	NM_019109.5(ALG1):c.1292C>T (p.Ala431Val)	ALG1, EEF2KMT (A320V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1475548	NM_019109.5(ALG1):c.1324C>T (p.Arg442Trp)	ALG1, EEF2KMT (R442W +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 382581	NM_019109.5(ALG1):c.1342C>T (p.Arg448Ter)	ALG1, EEF2KMT (R337*)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2994265	NM_019109.5(ALG1):c.1376C>T (p.Pro459Leu)	ALG1, EEF2KMT (P348L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 166670	NM_019109.5(ALG1):c.17_18dup	ALG1, EEF2KMT	Duplication (3 prime UTR variant)	not provided +1 more	GBenign
Select item 1189650	NM_019109.5(ALG1):c.*28G>A	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1197920	NM_019109.5(ALG1):c.*275G>T	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign