ClinVar for MedGen (Select 344338) - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3238776	NM_001003722.2(GLE1):c.1835A>T (p.Glu612Val)	GLE1, LOC101929270 (E612V +1 more)	Single nucleotide variant (missense variant)	Lethal congenital contracture syndrome 1	GUncertain significance
Select item 1324481	NM_001003722.2(GLE1):c.428del (p.Gly143fs)	GLE1 (G143fs)	Deletion (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 1185280	NM_001003722.2(GLE1):c.99+29C>G	GLE1	Single nucleotide variant (intron variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +2 more	GBenign
Select item 991328	NM_001003722.2(GLE1):c.946C>T (p.Arg316Trp)	GLE1 (R316W)	Single nucleotide variant (missense variant)	Lethal congenital contracture syndrome 1 +1 more	GUncertain significance
Select item 915238	NM_001003722.2(GLE1):c.1964+8G>T	GLE1, LOC101929270 (A658S)	Single nucleotide variant (missense variant +1 more)	Lethal arthrogryposis-anterior horn cell disease syndrome +2 more	GConflicting classifications of pathogenicity
Select item 915237	NM_001003722.2(GLE1):c.1882-8C>G	GLE1, LOC101929270	Single nucleotide variant (intron variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +2 more	GConflicting classifications of pathogenicity
Select item 915199	NM_001003722.2(GLE1):c.737G>A (p.Arg246Gln)	GLE1 (R246Q)	Single nucleotide variant (missense variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +1 more	GUncertain significance
Select item 915198	NM_001003722.2(GLE1):c.719A>G (p.Glu240Gly)	GLE1 (E240G)	Single nucleotide variant (missense variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +1 more	GUncertain significance
Select item 914557	NM_001003722.2(GLE1):c.*907G>A	GLE1, LOC101929270	Single nucleotide variant (3 prime UTR variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +1 more	GUncertain significance
Select item 914050	NM_001003722.2(GLE1):c.*618T>C	GLE1, LOC101929270	Single nucleotide variant (3 prime UTR variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +1 more	GUncertain significance
Select item 914049	NM_001003722.2(GLE1):c.*599G>A	LOC101929270, GLE1	Single nucleotide variant (3 prime UTR variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +1 more	GUncertain significance
Select item 914048	NM_001003722.2(GLE1):c.*536G>A	GLE1, LOC101929270	Single nucleotide variant (3 prime UTR variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +1 more	GUncertain significance
Select item 914007	NM_001003722.2(GLE1):c.1554C>A (p.Asp518Glu)	LOC101929270, GLE1 (D518E)	Single nucleotide variant (missense variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +1 more	GUncertain significance
Select item 914006	NM_001003722.2(GLE1):c.1493C>G (p.Ala498Gly)	GLE1, LOC101929270 (A498G)	Single nucleotide variant (missense variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +1 more	GUncertain significance
Select item 914005	NM_001003722.2(GLE1):c.1431A>G (p.Gln477=)	GLE1, LOC101929270	Single nucleotide variant (synonymous variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +1 more	GUncertain significance
Select item 914004	NM_001003722.2(GLE1):c.1396G>A (p.Val466Ile)	GLE1, LOC101929270 (V466I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 913957	NM_001003722.2(GLE1):c.573G>C (p.Met191Ile)	GLE1 (M191I)	Single nucleotide variant (missense variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +3 more	GUncertain significance
Select item 913956	NM_001003722.2(GLE1):c.485C>T (p.Ser162Leu)	GLE1 (S162L)	Single nucleotide variant (missense variant)	Lethal congenital contracture syndrome 1 +1 more	GUncertain significance
Select item 913646	NM_001003722.2(GLE1):c.*525C>T	GLE1, LOC101929270	Single nucleotide variant (3 prime UTR variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +1 more	GUncertain significance
Select item 913645	NM_001003722.2(GLE1):c.*425A>G	GLE1, LOC101929270	Single nucleotide variant (3 prime UTR variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +1 more	GUncertain significance
Select item 913606	NM_001003722.2(GLE1):c.1130-15T>C	GLE1	Single nucleotide variant (intron variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +2 more	GConflicting classifications of pathogenicity
Select item 913605	NM_001003722.2(GLE1):c.1109C>T (p.Pro370Leu)	GLE1 (P370L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 913573	NM_001003722.2(GLE1):c.76C>G (p.Arg26Gly)	GLE1 (R26G)	Single nucleotide variant (missense variant)	Lethal congenital contracture syndrome 1 +2 more	GUncertain significance
Select item 912590	NM_001003722.2(GLE1):c.*1002G>C	GLE1, LOC101929270	Single nucleotide variant (3 prime UTR variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +1 more	GUncertain significance
Select item 912589	NM_001003722.2(GLE1):c.*962C>T	GLE1, LOC101929270	Single nucleotide variant (3 prime UTR variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +1 more	GUncertain significance
Select item 912543	NM_001003722.2(GLE1):c.*381C>T	GLE1, LOC101929270	Single nucleotide variant (3 prime UTR variant)	Lethal congenital contracture syndrome 1 +1 more	GUncertain significance
Select item 912488	NM_001003722.2(GLE1):c.947G>A (p.Arg316Gln)	GLE1 (R316Q)	Single nucleotide variant (missense variant)	Lethal congenital contracture syndrome 1 +1 more	GUncertain significance
Select item 912487	NM_001003722.2(GLE1):c.928G>A (p.Glu310Lys)	GLE1 (E310K)	Single nucleotide variant (missense variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +1 more	GUncertain significance
Select item 912454	NM_001003722.2(GLE1):c.-34G>A	GLE1	Single nucleotide variant (5 prime UTR variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +1 more	GUncertain significance
Select item 706615	NM_001003722.2(GLE1):c.643-4A>G	GLE1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 706479	NM_001003722.2(GLE1):c.1243-5G>A	GLE1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 705842	NM_001003722.2(GLE1):c.1731C>T (p.Tyr577=)	GLE1, LOC101929270	Single nucleotide variant (synonymous variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +2 more	GBenign/Likely benign
Select item 702330	NM_001003722.2(GLE1):c.116G>A (p.Cys39Tyr)	GLE1 (C39Y)	Single nucleotide variant (missense variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +2 more	GLikely benign
Select item 522965	NM_001982.4(ERBB3):c.3567AGA[2] (p.Glu1191del)	ERBB3 (E1191del)	Microsatellite (inframe_deletion)	Lethal congenital contracture syndrome 1	GUncertain significance
Select item 365147	NM_001003722.2(GLE1):c.*1005T>C	GLE1, LOC101929270	Single nucleotide variant (3 prime UTR variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +1 more	GBenign
Select item 365146	NM_001003722.2(GLE1):c.*933A>C	GLE1, LOC101929270	Single nucleotide variant (3 prime UTR variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +1 more	GUncertain significance
Select item 365145	NM_001003722.2(GLE1):c.*907G>C	GLE1, LOC101929270	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 365144	NM_001003722.2(GLE1):c.*782C>G	GLE1, LOC101929270	Single nucleotide variant (3 prime UTR variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +1 more	GUncertain significance
Select item 365143	NM_001003722.2(GLE1):c.*708T>C	GLE1, LOC101929270	Single nucleotide variant (3 prime UTR variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +1 more	GUncertain significance
Select item 365142	NM_001003722.2(GLE1):c.*640C>T	GLE1, LOC101929270	Single nucleotide variant (3 prime UTR variant)	Lethal congenital contracture syndrome 1 +1 more	GUncertain significance
Select item 365140	NM_001003722.2(GLE1):c.*390C>T	GLE1, LOC101929270	Single nucleotide variant (3 prime UTR variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +1 more	GUncertain significance
Select item 365139	NM_001003722.2(GLE1):c.*387C>G	GLE1, LOC101929270	Single nucleotide variant (3 prime UTR variant)	Lethal congenital contracture syndrome 1 +2 more	GBenign
Select item 365138	NM_001003722.2(GLE1):c.*181C>A	GLE1, LOC101929270	Single nucleotide variant (3 prime UTR variant)	Lethal congenital contracture syndrome 1 +2 more	GBenign
Select item 365137	NM_001003722.2(GLE1):c.*111T>C	GLE1, LOC101929270	Single nucleotide variant (3 prime UTR variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +1 more	GUncertain significance
Select item 365136	NM_001003722.2(GLE1):c.*73G>A	GLE1, LOC101929270	Single nucleotide variant (3 prime UTR variant)	Lethal congenital contracture syndrome 1 +2 more	GBenign
Select item 365135	NM_001003722.2(GLE1):c.2028+15G>A	GLE1, LOC101929270	Single nucleotide variant (intron variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +1 more	GUncertain significance
Select item 365134	NM_001003722.2(GLE1):c.749C>T (p.Ala250Val)	GLE1 (A250V)	Single nucleotide variant (missense variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +1 more	GUncertain significance
Select item 365133	NM_001003722.2(GLE1):c.433-15A>C	GLE1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 365132	NM_001003722.2(GLE1):c.321+13T>G	GLE1	Single nucleotide variant (intron variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +1 more	GUncertain significance
Select item 365131	NM_001003722.2(GLE1):c.54C>G (p.Asp18Glu)	GLE1 (D18E)	Single nucleotide variant (missense variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +1 more	GConflicting classifications of pathogenicity
Select item 365130	NM_001003722.2(GLE1):c.-45T>C	GLE1	Single nucleotide variant (5 prime UTR variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +1 more	GConflicting classifications of pathogenicity
Select item 365129	NM_001003722.2(GLE1):c.-51G>A	GLE1	Single nucleotide variant (5 prime UTR variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +1 more	GUncertain significance
Select item 365128	NM_001003722.2(GLE1):c.-81C>T	GLE1, LOC130002710	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GUncertain significance
Select item 365127	NM_001003722.2(GLE1):c.-84A>C	GLE1, LOC130002710	Single nucleotide variant (5 prime UTR variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +1 more	GUncertain significance
Select item 365126	NM_001499.2(GLE1):c.-108C>A	GLE1, LOC130002710	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GUncertain significance
Select item 289027	NM_001003722.2(GLE1):c.1393T>A (p.Ser465Thr)	GLE1, LOC101929270 (S465T)	Single nucleotide variant (missense variant)	Lethal congenital contracture syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 285426	NM_001003722.2(GLE1):c.5C>G (p.Pro2Arg)	GLE1 (P2R)	Single nucleotide variant (missense variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +2 more	GConflicting classifications of pathogenicity
Select item 284416	NM_001003722.2(GLE1):c.679C>T (p.Arg227Cys)	GLE1 (R227C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 256860	NM_001003722.2(GLE1):c.823G>A (p.Asp275Asn)	GLE1 (D275N)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 256858	NM_001003722.2(GLE1):c.1647-44A>G	GLE1, LOC101929270	Single nucleotide variant (intron variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +3 more	GBenign
Select item 256856	NM_001003722.2(GLE1):c.1242+30G>T	GLE1	Single nucleotide variant (intron variant)	Lethal congenital contracture syndrome 1 +3 more	GBenign
Select item 256855	NM_001003722.2(GLE1):c.1000G>A (p.Glu334Lys)	GLE1 (E334K)	Single nucleotide variant (missense variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +3 more	GBenign/Likely benign
Select item 198109	NM_001003722.2(GLE1):c.727A>G (p.Ile243Val)	GLE1 (I243V)	Single nucleotide variant (missense variant)	Lethal congenital contracture syndrome 1 +3 more	GBenign
Select item 193820	NM_001003722.2(GLE1):c.1641T>C (p.Tyr547=)	GLE1, LOC101929270	Single nucleotide variant (synonymous variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +2 more	GConflicting classifications of pathogenicity
Select item 6463	NM_001003722.2(GLE1):c.1706G>A (p.Arg569His)	GLE1, LOC101929270 (R569H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 6462	NM_001003722.2(GLE1):c.433-10A>G	GLE1	Single nucleotide variant (intron variant)	not provided	GPathogenic

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Items: 66