ClinVar for MedGen (Select 903088) - ClinVar - NCBI

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

Links from MedGen

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 953201	NM_000751.3(CHRND):c.1334T>C (p.Ile445Thr)	CHRND (I251T +3 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 3C +2 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 645129	NM_000751.3(CHRND):c.821-2A>C	CHRND	Single nucleotide variant (splice acceptor variant)	Congenital myasthenic syndrome 3C +1 more	GPathogenic/Likely pathogenic
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 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 189818	NM_000751.3(CHRND):c.901_1048-282del	CHRND	Deletion (splice acceptor variant +1 more)	Congenital myasthenic syndrome 3C	GPathogenic
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