Related gene-specific medical variations for Gene (Select 1144) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2684157	NM_000751.3(CHRND):c.739C>T (p.Leu247Phe)	CHRND (L146F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2440045	NM_000751.3(CHRND):c.1347G>A (p.Met449Ile)	CHRND (M255I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440044	NM_000751.3(CHRND):c.1366A>T (p.Asn456Tyr)	CHRND (N262Y +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440043	NM_000751.3(CHRND):c.656G>T (p.Arg219Met)	CHRND (R118M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2440041	NM_000751.3(CHRND):c.72G>C (p.Glu24Asp)	CHRND (E24D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2440039	NM_000751.3(CHRND):c.1536G>C (p.Gln512His)	CHRND (Q318H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440038	NM_000751.3(CHRND):c.95T>C (p.Leu32Pro)	CHRND (L32P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1324078	NM_000751.3(CHRND):c.1006C>T (p.Arg336Ter)	CHRND (R142* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1324076	NM_000751.3(CHRND):c.269G>A (p.Trp90Ter)	CHRND (W75* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 996812	NM_000751.3(CHRND):c.868_871del (p.Val290fs)	CHRND (V189fs +3 more)	Microsatellite (frameshift variant)	not provided	GLikely 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 242639	NM_000751.2:c.73G>T	CHRND (E25*)	Single nucleotide variant (nonsense +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 242638	NM_000751.2:c.1319A>G	CHRND (D440G +3 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant