"Mendelics"[submitter] AND "NEB"[gene] - ClinVar - NCBI

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

Search results

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 801762	NM_001164508.2(NEB):c.24304_24305dup (p.Leu8102fs)	NEB, RIF1 (L8102fs +1 more)	Duplication (frameshift variant +1 more)	Nemaline myopathy 2	GPathogenic
Select item 533994	NM_001164508.2(NEB):c.24189_24192dup (p.Glu8065fs)	NEB, RIF1 (E8100fs +1 more)	Duplication (frameshift variant +1 more)	See cases +4 more	GPathogenic
Select item 1684944	NM_001164508.2(NEB):c.24113C>T (p.Ser8038Leu)	NEB, RIF1 (S8038L +1 more)	Single nucleotide variant (missense variant +1 more)	Nemaline myopathy 2 +1 more	GUncertain significance
Select item 1430704	NM_001164508.2(NEB):c.24089_24092dup (p.His8031fs)	NEB, RIF1 (H8031fs +1 more)	Duplication (frameshift variant +1 more)	Nemaline myopathy 2 +2 more	GPathogenic/Likely pathogenic
Select item 801763	NM_001164508.2(NEB):c.23847del (p.Glu7950fs)	NEB, RIF1 (E7950fs +2 more)	Deletion (frameshift variant)	Nemaline myopathy 2	GPathogenic
Select item 801764	NM_001164508.2(NEB):c.23140C>T (p.Arg7714Ter)	NEB, RIF1 (R7714* +2 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2 +2 more	GPathogenic/Likely pathogenic
Select item 801765	NM_001164508.2(NEB):c.22748C>G (p.Pro7583Arg)	NEB, RIF1 (P7583R +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GConflicting classifications of pathogenicity
Select item 801766	NM_001164508.2(NEB):c.22327C>T (p.Arg7443Ter)	NEB, RIF1 (R5742* +2 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2	GPathogenic
Select item 801767	NM_001164508.2(NEB):c.22272+2dup	RIF1, NEB	Duplication (splice donor variant)	Nemaline myopathy 2 +1 more	GConflicting classifications of pathogenicity
Select item 801768	NM_001164508.2(NEB):c.20467-2A>C	NEB	Single nucleotide variant (splice acceptor variant)	Nemaline myopathy 2	GPathogenic
Select item 801769	NM_001164508.2(NEB):c.19102-10_19102-4del	NEB	Deletion (intron variant)	Nemaline myopathy 2	GConflicting classifications of pathogenicity
Select item 331463	NM_001164508.2(NEB):c.17635-3dup	NEB	Duplication (intron variant)	Nemaline Myopathy, Recessive +1 more	GBenign
Select item 95102	NM_001164508.2(NEB):c.10809G>C (p.Trp3603Cys)	NEB (W3360C +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 6 +3 more	GBenign
Select item 801770	NM_001164508.2(NEB):c.10612C>T (p.Arg3538Ter)	NEB (R3295* +1 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2	GPathogenic/Likely pathogenic
Select item 556035	NM_001164508.2(NEB):c.8889+1G>A	NEB	Single nucleotide variant (intron variant +1 more)	Nemaline myopathy 2	GLikely pathogenic
Select item 95127	NM_001164508.2(NEB):c.2943G>A (p.Glu981=)	NEB	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 550050	NM_001164508.2(NEB):c.1674+2T>C	NEB	Single nucleotide variant (splice donor variant)	Nemaline myopathy 2 +1 more	GPathogenic/Likely pathogenic
Select item 1685967	NM_001164508.2(NEB):c.870_873del (p.Ser290fs)	NEB (S290fs)	Deletion (frameshift variant)	Nemaline myopathy 2	GPathogenic