ClinVar for MedGen (Select 898378) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2431232	NM_000751.3(CHRND):c.919_920delinsAG (p.Pro307Ser)	CHRND (P113S +3 more)	Indel (missense variant)	Congenital myasthenic syndrome 3A	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)	Congenital myasthenic syndrome 3A +3 more	GUncertain significance
Select item 1033120	NM_000751.3(CHRND):c.218T>C (p.Leu73Pro)	CHRND (L73P)	Single nucleotide variant (missense variant +2 more)	Lethal multiple pterygium syndrome +1 more	GUncertain significance
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 426311	NM_000751.3(CHRND):c.136G>A (p.Ala46Thr)	CHRND (A46T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 420109	NM_000751.3(CHRND):c.127C>T (p.Arg43Trp)	CHRND (R43W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 290021	NM_000751.3(CHRND):c.497C>T (p.Ser166Phe)	CHRND (S166F +3 more)	Single nucleotide variant (missense variant)	not provided +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)	not provided +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)	Lethal multiple pterygium syndrome +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)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 193603	NM_000751.3(CHRND):c.1105C>T (p.Pro369Ser)	CHRND (P369S +3 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome +4 more	GConflicting classifications of pathogenicity
Select item 18363	NM_000751.3(CHRND):c.866C>T (p.Ser289Phe)	CHRND (S289F +3 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GLikely pathogenic