Related gene-specific medical variations for Gene (Select 1305) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065133	NM_001368882.1(COL13A1):c.462+1G>T	COL13A1	Single nucleotide variant (splice donor variant +1 more)	Congenital myasthenic syndrome 19	GUncertain significance
Select item 2690570	NM_001368882.1(COL13A1):c.2022+1G>C	COL13A1	Single nucleotide variant (splice donor variant)	Congenital myasthenic syndrome 19	GLikely pathogenic
Select item 2688820	NM_001368882.1(COL13A1):c.799C>G (p.Pro267Ala)	COL13A1 (P220A +8 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 19	GUncertain significance
Select item 2440268	NM_001368882.1(COL13A1):c.2141_2142insCT (p.Leu715fs)	COL13A1 (L632fs +8 more)	Insertion (frameshift variant +1 more)	Congenital myasthenic syndrome 19	GUncertain significance
Select item 1248966	NM_001368882.1(COL13A1):c.2146-121C>T	COL13A1, LOC130003992	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 548475	NM_001368882.1(COL13A1):c.2040C>T (p.Pro680=)	COL13A1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 19	GUncertain significance

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