"Victorian Clinical Genetics Services, Murdoch Childrens Research Inst - ClinVar - NCBI

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

Search results

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 550775	NM_001164508.2(NEB):c.24177_24178del (p.Arg8059fs)	NEB, RIF1 (R8094fs +1 more)	Microsatellite (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 373977	NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)	NEB, RIF1 (R8032* +1 more)	Single nucleotide variant (nonsense +1 more)	NEB-related condition +7 more	GPathogenic/Likely pathogenic
Select item 1804887	NM_001164508.2(NEB):c.23742+1G>A	NEB, RIF1	Single nucleotide variant (splice donor variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 2500789	NM_001164508.2(NEB):c.23034T>A (p.Asp7678Glu)	RIF1, NEB (D5977E +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GUncertain significance
Select item 451052	NM_001164508.2(NEB):c.22590+2T>C	RIF1, NEB	Single nucleotide variant (splice donor variant)	Nemaline myopathy 2 +3 more	GConflicting classifications of pathogenicity
Select item 855213	NM_001164507.2(NEB):c.21392A>T (p.Lys7131Met)	RIF1, NEB (K7131M +1 more)	Single nucleotide variant (missense variant +1 more)	Nemaline myopathy 2	GUncertain significance
Select item 1806131	NM_001164508.2(NEB):c.20456G>A (p.Arg6819Gln)	NEB (R5118Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 552059	NM_001164508.2(NEB):c.11910+1G>A	NEB	Single nucleotide variant (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2500790	NM_001164508.2(NEB):c.11210C>T (p.Ser3737Phe)	NEB (S3494F +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GUncertain significance
Select item 550322	NM_001164508.2(NEB):c.9465del (p.Ile3156fs)	NEB (I3156fs)	Deletion (frameshift variant +1 more)	Nemaline myopathy +2 more	GPathogenic/Likely pathogenic
Select item 444522	NM_001164508.2(NEB):c.3255C>T (p.Asp1085=)	NEB	Single nucleotide variant (synonymous variant)	NEB-related condition +2 more	GConflicting classifications of pathogenicity