C1850569[trait identifier] AND "Center for Genomic Medicine, King Fais - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1432515	NM_001164508.2(NEB):c.25063C>T (p.Arg8355Cys)	NEB, RIF1 (R6499C +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GUncertain significance
Select item 265493	NM_001164508.2(NEB):c.24527_24528del (p.Pro8176fs)	NEB, RIF1 (P6320fs +2 more)	Deletion (frameshift variant)	not provided +6 more	GPathogenic
Select item 496135	NM_001164508.2(NEB):c.24454C>T (p.Arg8152Ter)	NEB, RIF1 (R8187* +2 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2 +3 more	GPathogenic/Likely pathogenic
Select item 3065618	NM_001164508.2(NEB):c.24331dup (p.Thr8111fs)	NEB, RIF1 (T8111fs +1 more)	Duplication (frameshift variant +1 more)	Nemaline myopathy 2	GUncertain significance
Select item 3068721	NM_001164508.2(NEB):c.22590+5G>A	NEB, RIF1	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GUncertain significance
Select item 190457	NM_001164508.2(NEB):c.21076C>T (p.Arg7026Ter)	NEB (R7026* +1 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2 +3 more	GPathogenic/Likely pathogenic
Select item 1252068	NM_001164508.2(NEB):c.16909-1G>A	NEB	Single nucleotide variant (splice acceptor variant)	Nemaline myopathy 2	GPathogenic
Select item 280692	NM_001164508.2(NEB):c.11806-1G>A	NEB	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3068287	NM_001164508.2(NEB):c.11068A>G (p.Met3690Val)	NEB (M3447V +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GUncertain significance
Select item 1027781	NM_001164508.2(NEB):c.9278T>C (p.Leu3093Pro)	NEB (L3093P)	Single nucleotide variant (missense variant +1 more)	Nemaline myopathy 2	GUncertain significance
Select item 964715	NM_001164508.2(NEB):c.8683G>A (p.Asp2895Asn)	NEB (D2895N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2424493	NM_001164508.2(NEB):c.4802A>G (p.His1601Arg)	NEB (H1601R)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GUncertain significance
Select item 2070678	NM_001164508.2(NEB):c.3271G>T (p.Asp1091Tyr)	NEB (D1091Y)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GLikely benign
Select item 188731	NM_001164508.2(NEB):c.2784del (p.Asp929fs)	NEB (D929fs)	Deletion (frameshift variant)	Nemaline myopathy 2 +2 more	GPathogenic/Likely pathogenic
Select item 1177402	NM_001164508.2(NEB):c.1015del (p.Ala339fs)	NEB (A339fs)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6 +1 more	GConflicting classifications of pathogenicity