"Genome-Nilou Lab"[submitter] AND "MYO18B"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1321829	NM_032608.7(MYO18B):c.9C>G (p.Ile3Met)	MYO18B (I3M)	Single nucleotide variant (missense variant)	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome +1 more	GBenign
Select item 1245085	NM_032608.7(MYO18B):c.131G>A (p.Gly44Glu)	MYO18B (G44E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1246044	NM_032608.7(MYO18B):c.199-3C>T	MYO18B	Single nucleotide variant (intron variant)	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome +1 more	GBenign
Select item 1267850	NM_032608.7(MYO18B):c.530C>T (p.Pro177Leu)	MYO18B (P177L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1232547	NM_032608.7(MYO18B):c.1641G>C (p.Trp547Cys)	MYO18B (W547C)	Single nucleotide variant (missense variant)	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome +1 more	GBenign
Select item 1256824	NM_032608.7(MYO18B):c.1981T>C (p.Trp661Arg)	MYO18B (W661R)	Single nucleotide variant (missense variant)	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome +1 more	GBenign
Select item 1253166	NM_032608.7(MYO18B):c.2439C>G (p.Leu813=)	MYO18B	Single nucleotide variant (synonymous variant)	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome +1 more	GBenign
Select item 1261723	NM_032608.7(MYO18B):c.2502T>C (p.Gly834=)	MYO18B	Single nucleotide variant (synonymous variant)	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome +1 more	GBenign
Select item 1241661	NM_032608.7(MYO18B):c.2786+39G>A	MYO18B	Single nucleotide variant (intron variant)	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome +1 more	GBenign
Select item 1280072	NM_032608.7(MYO18B):c.3357C>A (p.His1119Gln)	MYO18B (H1119Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1286865	NM_032608.7(MYO18B):c.3795G>A (p.Gly1265=)	MYO18B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1245465	NM_032608.7(MYO18B):c.5748+11A>G	MYO18B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1288124	NM_032608.7(MYO18B):c.5749-11del	MYO18B	Deletion (intron variant)	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome +1 more	GBenign
Select item 1238640	NM_032608.7(MYO18B):c.7040A>G (p.Gln2347Arg)	MYO18B (Q2347R +1 more)	Single nucleotide variant (missense variant)	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome +1 more	GBenign