ClinVar for MedGen (Select 909404) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2162991	NM_000751.3(CHRND):c.1107del (p.Ser370fs)	CHRND (S269fs +3 more)	Deletion (frameshift variant)	Lethal multiple pterygium syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1709757	NM_000751.3(CHRND):c.982_983del (p.Val328fs)	CHRND (V134fs +3 more)	Microsatellite (frameshift variant)	Congenital myasthenic syndrome 3B	GLikely pathogenic
Select item 1709700	NM_000751.3(CHRND):c.961A>C (p.Thr321Pro)	CHRND (T127P +3 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 3B	GUncertain significance
Select item 1705579	NM_000751.3(CHRND):c.826G>A (p.Glu276Lys)	CHRND (E175K +3 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 3B	GUncertain significance
Select item 1687259	NM_000751.3(CHRND):c.1441_1443del (p.Met481del)	CHRND (M287del +3 more)	Deletion (inframe_deletion)	Congenital myasthenic syndrome 3B	GUncertain significance
Select item 1687227	NM_000751.3(CHRND):c.52+1G>A	CHRND	Single nucleotide variant (splice donor variant)	Congenital myasthenic syndrome 3B	GLikely pathogenic
Select item 1417728	NM_000751.3(CHRND):c.80G>A (p.Arg27Gln)	CHRND (R27Q)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 3B +1 more	GUncertain significance
Select item 1378317	NM_000751.3(CHRND):c.601G>A (p.Asp201Asn)	CHRND (D186N +2 more)	Single nucleotide variant (missense variant +1 more)	Lethal multiple pterygium syndrome +3 more	GUncertain significance
Select item 1324077	NM_000751.3(CHRND):c.248G>A (p.Trp83Ter)	CHRND (W68* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital myasthenic syndrome 3B +1 more	GPathogenic/Likely pathogenic
Select item 767409	NM_000751.3(CHRND):c.132C>G (p.Pro44=)	CHRND	Single nucleotide variant (synonymous variant +1 more)	Lethal multiple pterygium syndrome +3 more	GLikely benign
Select item 548627	NM_000751.3(CHRND):c.1181A>C (p.Lys394Thr)	CHRND (K293T +3 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 3A +3 more	GUncertain significance
Select item 534528	NM_000751.3(CHRND):c.697C>T (p.Arg233Cys)	CHRND (R233C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 286380	NM_000751.3(CHRND):c.1220G>A (p.Arg407Gln)	CHRND (R407Q +3 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome +4 more	GUncertain significance
Select item 283138	NM_000751.3(CHRND):c.727C>T (p.Arg243Cys)	CHRND (R243C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 281423	NM_000751.3(CHRND):c.919C>T (p.Pro307Ser)	CHRND (P307S +3 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome +5 more	GConflicting classifications of pathogenicity
Select item 189817	NM_000751.3(CHRND):c.1204G>A (p.Glu402Lys)	CHRND (E402K +3 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 3B +2 more	GConflicting classifications of pathogenicity
Select item 18371	NM_000751.3(CHRND):c.188T>C (p.Leu63Pro)	CHRND (L63P)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 3B	GPathogenic
Select item 18368	NM_000751.3(CHRND):c.234G>A (p.Trp78Ter)	CHRND (W78*)	Single nucleotide variant (nonsense +2 more)	not provided +2 more	GPathogenic
Select item 18367	NM_000751.3(CHRND):c.820_820+1del	CHRND	Deletion (intron variant +1 more)	Lethal multiple pterygium syndrome	GPathogenic
Select item 18366	NM_000751.3(CHRND):c.238G>A (p.Glu80Lys)	CHRND (E80K)	Single nucleotide variant (missense variant +2 more)	Congenital myasthenic syndrome 3B	GPathogenic
Select item 18365	NM_000751.3(CHRND):c.236T>A (p.Ile79Lys)	CHRND (I79K)	Single nucleotide variant (missense variant +2 more)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 18364	NM_000751.3(CHRND):c.812C>A (p.Pro271Gln)	CHRND (P271Q +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 3B	GPathogenic

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Items: 22