C1850569[trait identifier] AND "Broad Center for Mendelian Genomics, B - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 279999	NM_001164508.2(NEB):c.24666del (p.Phe8222fs)	NEB, RIF1 (F6366fs +2 more)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6 +2 more	GPathogenic/Likely pathogenic
Select item 432817	NM_001164508.2(NEB):c.24588C>G (p.Tyr8196Ter)	RIF1, NEB (Y8231* +2 more)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6 +2 more	GPathogenic
Select item 550672	NM_001164508.2(NEB):c.24211_24212dup (p.Leu8071fs)	NEB, RIF1 (L8071fs +1 more)	Duplication (frameshift variant +1 more)	Nemaline myopathy 2	GPathogenic/Likely pathogenic
Select item 813957	NM_001164508.2(NEB):c.24115-151C>A	NEB, RIF1	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GUncertain significance
Select item 578209	NM_001164508.2(NEB):c.22170C>G (p.Tyr7390Ter)	NEB, RIF1 (Y7425* +2 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2 +2 more	GPathogenic/Likely pathogenic
Select item 430110	NM_001164508.2(NEB):c.21417+3A>G	NEB, RIF1	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2412769	NM_001164508.2(NEB):c.20719del (p.His6907fs)	NEB (H5206fs +1 more)	Deletion (frameshift variant)	Nemaline myopathy 2	GPathogenic
Select item 2412685	NM_001164508.2(NEB):c.20122G>A (p.Val6708Ile)	NEB (V6708I +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GUncertain significance
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 813958	NM_001164508.2(NEB):c.13147C>T (p.Gln4383Ter)	NEB (Q4383*)	Single nucleotide variant (nonsense +1 more)	Nemaline myopathy 2 +2 more	GPathogenic/Likely pathogenic
Select item 814016	NM_001164508.2(NEB):c.13130_13131del (p.Met4377fs)	NEB (M4377fs)	Deletion (frameshift variant +1 more)	Nemaline myopathy 2 +3 more	GPathogenic/Likely pathogenic
Select item 265494	NM_001164508.2(NEB):c.12018+1G>A	NEB	Single nucleotide variant (splice donor variant)	Nemaline myopathy 2 +1 more	GPathogenic/Likely pathogenic
Select item 2500962	NM_001164508.2(NEB):c.11805+2T>A	NEB	Single nucleotide variant (splice donor variant)	Nemaline myopathy 2	GUncertain significance
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 2412770	NM_001164508.2(NEB):c.8697del (p.Lys2899fs)	NEB (K2899fs)	Deletion (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 813956	NM_001164508.2(NEB):c.7235A>G (p.Tyr2412Cys)	NEB (Y2412C)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GUncertain significance
Select item 1458230	NM_001164508.2(NEB):c.5343+5G>A	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2 +1 more	GPathogenic/Likely pathogenic
Select item 1878214	NM_001164508.2(NEB):c.2079C>A (p.Cys693Ter)	NEB (C693*)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6 +2 more	GConflicting classifications of pathogenicity
Select item 1445319	NM_001164508.2(NEB):c.294+1G>A	NEB	Single nucleotide variant (splice donor variant)	Nemaline myopathy 2	GConflicting classifications of pathogenicity