"GeneDx"[submitter] AND "ALG2"[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 144971	GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	LOC130002205, LOC130002206 +417 more	Copy number loss	See cases	GPathogenic
Select item 265036	NM_033087.4(ALG2):c.1132C>T (p.Arg378Cys)	ALG2 (R378C)	Single nucleotide variant (missense variant +1 more)	ALG2-congenital disorder of glycosylation +3 more	GUncertain significance
Select item 96236	NM_033087.4(ALG2):c.1100T>C (p.Val367Ala)	ALG2 (V367A)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 14 +3 more	GBenign
Select item 2699	NM_033087.4(ALG2):c.1040del (p.Gly347fs)	ALG2 (G347fs)	Deletion (frameshift variant +1 more)	ALG2-congenital disorder of glycosylation +2 more	GPathogenic/Likely pathogenic
Select item 387911	NM_033087.4(ALG2):c.1038G>A (p.Ser346=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 2027307	NM_033087.4(ALG2):c.971A>G (p.Asn324Ser)	ALG2 (N324S)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 96238	NM_033087.4(ALG2):c.760T>C (p.Leu254=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 512410	NM_033087.4(ALG2):c.690C>T (p.Ser230=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	ALG2-congenital disorder of glycosylation +2 more	GLikely benign
Select item 386713	NM_033087.4(ALG2):c.663C>T (p.Pro221=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 1714421	NM_033087.4(ALG2):c.590A>G (p.Asp197Gly)	ALG2 (D197G)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 390397	NM_033087.4(ALG2):c.475A>G (p.Ile159Val)	ALG2 (I159V)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 381447	NM_033087.4(ALG2):c.349-17A>G	ALG2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 676240	NM_033087.4(ALG2):c.349-111A>G	ALG2, LOC132090795	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204227	NM_033087.4(ALG2):c.348+272dup	ALG2	Duplication (intron variant)	not provided	GLikely benign
Select item 1190659	NM_033087.4(ALG2):c.348+49G>A	ALG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 510878	NM_033087.4(ALG2):c.303G>A (p.Val101=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	ALG2-congenital disorder of glycosylation +2 more	GLikely benign
Select item 388260	NM_033087.4(ALG2):c.288C>T (p.Phe96=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	ALG2-congenital disorder of glycosylation +3 more	GBenign/Likely benign
Select item 382275	NM_033087.4(ALG2):c.258C>T (p.Ala86=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 657644	NM_033087.4(ALG2):c.232G>C (p.Gly78Arg)	ALG2 (G78R)	Single nucleotide variant (missense variant +1 more)	See cases +4 more	GUncertain significance
Select item 384975	NM_033087.4(ALG2):c.216G>T (p.Gly72=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	ALG2-congenital disorder of glycosylation +2 more	GLikely benign
Select item 917751	NM_033087.4(ALG2):c.212C>G (p.Ala71Gly)	ALG2 (A71G)	Single nucleotide variant (missense variant +1 more)	ALG2-congenital disorder of glycosylation +4 more	GUncertain significance
Select item 382799	NM_033087.4(ALG2):c.167C>T (p.Pro56Leu)	ALG2 (P56L)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 14 +3 more	GConflicting classifications of pathogenicity
Select item 364213	NM_033087.4(ALG2):c.159C>T (p.His53=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 262208	NM_033087.4(ALG2):c.129C>G (p.Arg43=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
Select item 917752	NM_033087.4(ALG2):c.85G>C (p.Ala29Pro)	ALG2 (A29P)	Single nucleotide variant (missense variant +1 more)	ALG2-congenital disorder of glycosylation +3 more	GUncertain significance
Select item 193473	NM_033087.4(ALG2):c.84C>G (p.Gly28=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
Select item 96237	NM_033087.4(ALG2):c.31T>C (p.Ser11Pro)	ALG2 (S11P)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
Select item 235651	NM_033087.4(ALG2):c.30C>G (p.Asp10Glu)	ALG2 (D10E)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 166675	NM_033087.4(ALG2):c.17G>C (p.Gly6Ala)	ALG2 (G6A)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 384987	NM_033087.4(ALG2):c.-11G>C	ALG2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 382455	NM_033087.4(ALG2):c.-36C>A	ALG2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 384241	NM_033087.4(ALG2):c.-39C>G	ALG2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1321806	NM_033087.3(ALG2):c.-63G>A	ALG2	Single nucleotide variant	not provided	GLikely benign
Select item 676239	NM_033087.3(ALG2):c.-202C>G	ALG2, LOC130002229	Single nucleotide variant	not provided	GBenign
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 36