ClinVar for MedGen (Select 863475) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064703	NM_177402.5(SYT2):c.548_549delinsGGA (p.Leu183fs)	SYT2 (L183fs)	Indel (frameshift variant)	Congenital myasthenic syndrome 7	GLikely pathogenic
Select item 2444098	NM_177402.5(SYT2):c.1081G>A (p.Asp361Asn)	SYT2 (D361N)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 7	GUncertain significance
Select item 1959486	NM_177402.5(SYT2):c.797_801+1del	SYT2	Microsatellite (splice donor variant)	Congenital myasthenic syndrome 7 +1 more	GConflicting classifications of pathogenicity
Select item 1295576	NM_177402.5(SYT2):c.117C>T (p.Ser39=)	SYT2	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 7 +2 more	GBenign
Select item 1200856	NM_177402.5(SYT2):c.804G>A (p.Pro268=)	SYT2	Single nucleotide variant (synonymous variant)	Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive +2 more	GBenign/Likely benign
Select item 1192313	NM_177402.5(SYT2):c.1094T>C (p.Leu365Pro)	SYT2	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1192312	NM_177402.5(SYT2):c.1082_1096del (p.Asp361_Leu365del)	SYT2	Deletion (inframe_deletion)	Congenital myasthenic syndrome 7	GPathogenic
Select item 1192311	NM_177402.5(SYT2):c.1112T>A (p.Ile371Lys)	SYT2	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 7	GPathogenic
Select item 1030352	NM_177402.5(SYT2):c.199G>A (p.Ala67Thr)	SYT2 (A67T)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 7 +1 more	GUncertain significance
Select item 975873	NM_177402.5(SYT2):c.87del (p.Ser30fs)	SYT2 (S30fs)	Deletion (frameshift variant)	Congenital myasthenic syndrome 7	GUncertain significance
Select item 931591	NM_177402.5(SYT2):c.358G>A (p.Ala120Thr)	SYT2 (A120T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 445706	NM_177402.5(SYT2):c.465+20_465+21del	SYT2	Deletion (intron variant)	Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive +2 more	GBenign/Likely benign
Select item 156369	NM_177402.5(SYT2):c.923C>T (p.Pro308Leu)	SYT2 (P308L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 156368	NM_177402.5(SYT2):c.920A>C (p.Asp307Ala)	SYT2 (D307A)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 7	GPathogenic