C3808739[trait identifier] AND "Mayo Clinic Laboratories, Mayo Clinic" - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 541203	NM_198576.4(AGRN):c.384C>G (p.His128Gln)	LOC126805576, AGRN (H128Q)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GConflicting classifications of pathogenicity
Select item 704003	NM_198576.4(AGRN):c.800C>T (p.Thr267Met)	AGRN (T162M +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +2 more	GConflicting classifications of pathogenicity
Select item 1409104	NM_198576.4(AGRN):c.2089G>A (p.Asp697Asn)	AGRN (D592N +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GUncertain significance
Select item 1014086	NM_198576.4(AGRN):c.2521C>T (p.Arg841Trp)	AGRN (R736W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1525889	NM_198576.4(AGRN):c.2566C>T (p.Arg856Trp)	AGRN (R751W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 474116	NM_198576.4(AGRN):c.3353C>A (p.Thr1118Lys)	AGRN (T1118K +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GConflicting classifications of pathogenicity
Select item 570533	NM_198576.4(AGRN):c.3532C>T (p.Arg1178Trp)	AGRN (R1178W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 547973	NM_198576.4(AGRN):c.3662G>A (p.Arg1221Gln)	AGRN (R1221Q +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 705729	NM_198576.4(AGRN):c.4021G>A (p.Gly1341Arg)	AGRN (G1236R +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GConflicting classifications of pathogenicity
Select item 641458	NM_198576.4(AGRN):c.4339G>A (p.Val1447Met)	AGRN (V1342M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 541153	NM_198576.4(AGRN):c.4343C>T (p.Pro1448Leu)	AGRN (P1448L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 252808	NM_198576.4(AGRN):c.4639G>A (p.Glu1547Lys)	AGRN (E1547K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 705031	NM_198576.4(AGRN):c.4694A>G (p.Gln1565Arg)	AGRN (Q1565R +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GConflicting classifications of pathogenicity
Select item 661322	NM_198576.4(AGRN):c.4741G>A (p.Val1581Ile)	AGRN (V1476I +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +2 more	GUncertain significance
Select item 474139	NM_198576.4(AGRN):c.4840G>A (p.Glu1614Lys)	AGRN (E1614K +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GConflicting classifications of pathogenicity
Select item 474167	NM_198576.4(AGRN):c.6068G>T (p.Gly2023Val)	AGRN (G2023V +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +2 more	GUncertain significance