"GeneDx"[submitter] AND "ALG3"[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 57995	GRCh38/hg38 3q27.1(chr3:184200139-184656801)x3	ALG3, CAMK2N2 +35 more	Copy number gain	See cases	GPathogenic
Select item 60129	GRCh38/hg38 3q27.1(chr3:184239109-184391437)x1	EIF4G1, FAM131A +26 more	Copy number loss	See cases	GUncertain significance
Select item 259884	NM_005787.6(ALG3):c.*50T>G	ALG3	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 1208663	NM_005787.6(ALG3):c.1280T>A (p.Phe427Tyr)	ALG3 (F379Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 511804	NM_005787.6(ALG3):c.1272G>A (p.Pro424=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 166676	NM_005787.6(ALG3):c.1271C>T (p.Pro424Leu)	ALG3 (P424L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 390883	NM_005787.6(ALG3):c.1176C>T (p.Ile392=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 514072	NM_005787.6(ALG3):c.1107C>T (p.Pro369=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 344348	NM_005787.6(ALG3):c.1084G>A (p.Val362Ile)	ALG3 (V362I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3343203	NM_005787.6(ALG3):c.1060C>A (p.Arg354Ser)	ALG3 (R306S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1202996	NM_005787.6(ALG3):c.1010-137G>A	ALG3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218381	NM_005787.6(ALG3):c.1010-292C>T	ALG3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182883	NM_005787.6(ALG3):c.1009+188G>A	ALG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228028	NM_005787.6(ALG3):c.1009+162G>T	ALG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1310928	NM_005787.6(ALG3):c.985C>G (p.Pro329Ala)	ALG3 (P281A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 344350	NM_005787.6(ALG3):c.933-4C>T	ALG3	Single nucleotide variant (intron variant)	ALG3-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 1186996	NM_005787.6(ALG3):c.933-29T>C	ALG3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1184848	NM_005787.6(ALG3):c.796C>T (p.Arg266Cys)	ALG3 (R218C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 992318	NM_005787.6(ALG3):c.790C>T (p.Leu264Phe)	ALG3 (L216F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 344353	NM_005787.6(ALG3):c.777C>T (p.Ser259=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 427137	NM_005787.6(ALG3):c.752T>C (p.Leu251Pro)	ALG3 (L251P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 259885	NM_005787.6(ALG3):c.727-50T>C	ALG3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1695520	NM_005787.6(ALG3):c.668_669del (p.Leu223fs)	ALG3 (L175fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 382025	NM_005787.6(ALG3):c.669C>T (p.Leu223=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation +2 more	GLikely benign
Select item 1218797	NM_005787.6(ALG3):c.605+124C>T	ALG3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 344355	NM_005787.6(ALG3):c.591T>C (p.Gly197=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 344356	NM_005787.6(ALG3):c.578G>A (p.Arg193His)	ALG3 (R193H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2129	NM_005787.6(ALG3):c.512G>A (p.Arg171Gln)	ALG3 (R171Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 344357	NM_005787.6(ALG3):c.477C>T (p.Cys159=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of glycosylation +2 more	GConflicting classifications of pathogenicity
Select item 427138	NM_005787.6(ALG3):c.395A>G (p.Tyr132Cys)	ALG3 (Y132C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2500527	NM_005787.6(ALG3):c.359A>G (p.Asp120Gly)	ALG3 (D120G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 988294	NM_005787.6(ALG3):c.349C>T (p.Arg117Ter)	ALG3 (R117* +1 more)	Single nucleotide variant (nonsense +1 more)	ALG3-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 1704684	NM_005787.6(ALG3):c.343A>G (p.Thr115Ala)	ALG3 (T115A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2245887	NM_005787.6(ALG3):c.329G>T (p.Gly110Val)	ALG3 (G110V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 344358	NM_005787.6(ALG3):c.319A>G (p.Ile107Val)	ALG3 (I107V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 817390	NM_005787.6(ALG3):c.317del (p.Tyr106fs)	ALG3 (Y106fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 1004509	NM_005787.6(ALG3):c.248A>G (p.Asn83Ser)	ALG3 (N35S +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation +2 more	GUncertain significance
Select item 344360	NM_005787.6(ALG3):c.222C>T (p.Tyr74=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1224571	NM_005787.6(ALG3):c.196+283GCT[6]	ALG3	Microsatellite (intron variant)	not provided	GBenign
Select item 512452	NM_005787.6(ALG3):c.196+8C>T	ALG3	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 445988	NM_005787.6(ALG3):c.194C>T (p.Ala65Val)	ALG3 (A65V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2128	NM_005787.6(ALG3):c.165C>T (p.Gly55=)	ALG3	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 682552	NM_005787.6(ALG3):c.114G>A (p.Glu38=)	ALG3	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 382476	NM_005787.6(ALG3):c.108G>A (p.Leu36=)	ALG3	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 2067265	NM_005787.6(ALG3):c.62G>T (p.Cys21Phe)	ALG3 (C21F)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 344361	NM_005787.6(ALG3):c.51A>G (p.Ala17=)	ALG3	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2066390	NM_005787.6(ALG3):c.50C>T (p.Ala17Val)	ALG3 (A17V)	Single nucleotide variant (missense variant +2 more)	ALG3-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 390417	NM_005787.6(ALG3):c.24C>T (p.Arg8=)	ALG3	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 1189741	NM_001006941.2(ALG3):c.52+196G>T	ALG3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1702746	NM_001006941.2(ALG3):c.52+9G>A	ALG3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic

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Items: 53