C3808739[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 571135	NM_198576.4(AGRN):c.172G>A (p.Asp58Asn)	AGRN (D58N)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 861301	NM_198576.4(AGRN):c.749A>C (p.Asn250Thr)	AGRN (N145T +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GConflicting classifications of pathogenicity
Select item 1029355	NM_198576.4(AGRN):c.802_803delinsAT (p.Ala268Ile)	AGRN (A163I +1 more)	Indel (missense variant)	not provided +1 more	GUncertain significance
Select item 1033268	NM_198576.4(AGRN):c.1702G>A (p.Gly568Ser)	AGRN (G568S +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 1029350	NM_198576.4(AGRN):c.1939G>A (p.Glu647Lys)	AGRN (E542K +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 1029351	NM_198576.4(AGRN):c.2393A>T (p.His798Leu)	AGRN (H693L +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 1033269	NM_198576.4(AGRN):c.2567G>A (p.Arg856Gln)	AGRN (R751Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 570635	NM_198576.4(AGRN):c.3034G>A (p.Ala1012Thr)	AGRN (A1012T +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GUncertain significance
Select item 541161	NM_198576.4(AGRN):c.3119C>T (p.Thr1040Met)	AGRN (T1040M +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 642196	NM_198576.4(AGRN):c.3764C>T (p.Ala1255Val)	AGRN (A1255V +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 936082	NM_198576.4(AGRN):c.3905C>T (p.Thr1302Met)	AGRN (T1197M +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 850243	NM_198576.4(AGRN):c.4561C>T (p.Arg1521Cys)	AGRN (R1521C +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 243039	NM_198576.4(AGRN):c.5023G>A (p.Gly1675Ser)	AGRN (G1675S +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GConflicting classifications of pathogenicity
Select item 1029352	NM_198576.4(AGRN):c.5056G>A (p.Gly1686Ser)	AGRN (G1581S +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 858673	NM_198576.4(AGRN):c.5674C>T (p.His1892Tyr)	AGRN (H1915Y +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 2582504	NM_198576.4(AGRN):c.5801T>C (p.Leu1934Pro)	AGRN (L1833P +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 1029353	NM_198576.4(AGRN):c.5839G>A (p.Val1947Ile)	AGRN (V1947I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance