Related gene-specific medical variations for Gene (Select 57190) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2435811	NM_020451.3(SELENON):c.273G>C (p.Glu91Asp)	SELENON (E91D)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 2435810	NM_020451.3(SELENON):c.650T>C (p.Leu217Pro)	SELENON (L183P +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 2435807	NM_020451.3(SELENON):c.635C>T (p.Pro212Leu)	SELENON (P178L +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 2435806	NM_020451.3(SELENON):c.1567G>A (p.Val523Met)	SELENON (V489M +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 2435805	NM_020451.3(SELENON):c.816G>C (p.Gln272His)	SELENON (Q238H +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 2435804	NM_020451.3(SELENON):c.1109C>T (p.Thr370Met)	SELENON (T336M +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 2435803	NM_020451.3(SELENON):c.200C>A (p.Thr67Asn)	SELENON (T67N)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 1704255	NM_020451.3(SELENON):c.773del (p.Met258fs)	SELENON (M224fs +1 more)	Deletion (frameshift variant)	Eichsfeld type congenital muscular dystrophy	GPathogenic
Select item 1323573	NM_020451.3(SELENON):c.446_447del (p.Pro149fs)	SELENON (P115fs +1 more)	Deletion (frameshift variant)	Eichsfeld type congenital muscular dystrophy	GPathogenic
Select item 870306	Single allele	SELENON	Insertion	Eichsfeld type congenital muscular dystrophy	GPathogenic
Select item 261282	NM_020451.3(SELENON):c.404-23dup	SELENON	Duplication (intron variant)	not specified	GLikely benign
Select item 261281	NM_020451.3(SELENON):c.403+47T>A	SELENON	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 261270	NM_020451.3(SELENON):c.1093-45T>C	SELENON	Single nucleotide variant (intron variant)	not specified	GLikely benign