ClinVar for MedGen (Select 897962) - ClinVar

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Items: 37

	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 2664900	NM_001368882.1(COL13A1):c.457G>T (p.Glu153Ter)	COL13A1 (E141* +1 more)	Single nucleotide variant (nonsense +2 more)	Congenital myasthenic syndrome 19	GLikely pathogenic
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 2412708	NM_001368882.1(COL13A1):c.803del (p.Pro268fs)	COL13A1 (P221fs +8 more)	Deletion (frameshift variant)	Congenital myasthenic syndrome 19	GLikely pathogenic
Select item 2293769	NM_001368882.1(COL13A1):c.1880G>A (p.Gly627Glu)	COL13A1 (G544E +5 more)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 19 +1 more	GUncertain significance
Select item 1973179	NM_001368882.1(COL13A1):c.740G>A (p.Arg247Gln)	COL13A1 (R200Q +7 more)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 19 +1 more	GUncertain significance
Select item 1698998	NM_001368882.1(COL13A1):c.1026+1G>A	COL13A1	Single nucleotide variant (splice donor variant)	Congenital myasthenic syndrome 19 +1 more	GConflicting classifications of pathogenicity
Select item 1374468	NM_001368882.1(COL13A1):c.549+5G>A	COL13A1	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1372269	NM_001368882.1(COL13A1):c.999+5G>A	COL13A1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 19 +1 more	GUncertain significance
Select item 1324099	NM_001368882.1(COL13A1):c.709C>T (p.Arg237Ter)	COL13A1 (R190* +7 more)	Single nucleotide variant (nonsense +1 more)	Congenital myasthenic syndrome 19 +1 more	GPathogenic/Likely pathogenic
Select item 1217338	NM_001368882.1(COL13A1):c.1330-3C>T	COL13A1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 19 +1 more	GBenign
Select item 1217337	NM_001368882.1(COL13A1):c.984C>G (p.Ala328=)	COL13A1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 19 +1 more	GBenign
Select item 1217336	NM_001368882.1(COL13A1):c.744G>A (p.Thr248=)	COL13A1	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 19 +1 more	GBenign
Select item 1217335	NM_001368882.1(COL13A1):c.685-1181A>G	COL13A1	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 19 +1 more	GBenign
Select item 1217334	NM_001368882.1(COL13A1):c.525A>C (p.Gly175=)	COL13A1	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 19 +1 more	GBenign
Select item 1217333	NM_001368882.1(COL13A1):c.514-4del	COL13A1	Deletion (intron variant)	Congenital myasthenic syndrome 19 +1 more	GBenign
Select item 1217332	NM_001368882.1(COL13A1):c.463-4G>A	COL13A1	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital myasthenic syndrome 19 +1 more	GBenign
Select item 1217331	NM_001368882.1(COL13A1):c.258G>A (p.Thr86=)	COL13A1	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 19 +1 more	GBenign
Select item 1184985	NM_001368882.1(COL13A1):c.1619del (p.Asn540fs)	COL13A1 (N319fs +9 more)	Deletion (frameshift variant)	Congenital myasthenic syndrome 19	GPathogenic
Select item 1184984	NM_001368882.1(COL13A1):c.675C>G (p.Tyr225Ter)	COL13A1 (Y178* +5 more)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome 19	GPathogenic
Select item 1184983	NM_001368882.1(COL13A1):c.1884_1886delinsCCCT (p.Ser629fs)	COL13A1 (S532fs +5 more)	Indel (intron variant +1 more)	Congenital myasthenic syndrome 19	GPathogenic
Select item 1066742	NM_001368882.1(COL13A1):c.1285-1G>C	COL13A1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 1039832	NM_001368882.1(COL13A1):c.1859G>A (p.Arg620His)	COL13A1 (R384H +15 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 19 +2 more	GUncertain significance
Select item 1033312	NM_001368882.1(COL13A1):c.750+18G>T	COL13A1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 19 +1 more	GConflicting classifications of pathogenicity
Select item 1033311	NM_001368882.1(COL13A1):c.1610A>G (p.Lys537Arg)	COL13A1 (K475R +9 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 19	GUncertain significance
Select item 1031125	NM_001368882.1(COL13A1):c.567C>A (p.Asp189Glu)	COL13A1 (D151E +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 982128	NM_001368882.1(COL13A1):c.1559G>A (p.Gly520Asp)	COL13A1 (G299D +9 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 19	GPathogenic
Select item 977151	NM_001368882.1(COL13A1):c.576+5G>A	COL13A1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 19	GUncertain significance
Select item 977150	NM_001368882.1(COL13A1):c.513del (p.Gly172fs)	COL13A1 (G142fs +3 more)	Deletion (frameshift variant +2 more)	Congenital myasthenic syndrome 19	GPathogenic/Likely pathogenic
Select item 975954	NM_001368882.1(COL13A1):c.1138C>T (p.Gln380Ter)	COL13A1 (Q159* +9 more)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome 19	GPathogenic
Select item 548475	NM_001368882.1(COL13A1):c.2040C>T (p.Pro680=)	COL13A1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 19	GUncertain significance
Select item 488484	NM_001368882.1(COL13A1):c.685-1164T>C	COL13A1	Single nucleotide variant (intron variant +1 more)	Congenital myasthenic syndrome 19	GLikely pathogenic
Select item 280690	NM_001368882.1(COL13A1):c.648del (p.Gly217fs)	COL13A1 (G17fs +6 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 218906	NM_001130103.1(COL13A1):c.523-1delG	COL13A1	Deletion	Congenital myasthenic syndrome 19	GPathogenic
Select item 218905	NM_001368882.1(COL13A1):c.1206del (p.Leu403fs)	COL13A1 (L341fs +9 more)	Deletion (frameshift variant)	Congenital myasthenic syndrome 19	GPathogenic

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Items: 37