"Baylor Genetics"[submitter] AND "MYO18B"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1028972	NM_032608.7(MYO18B):c.362C>G (p.Thr121Arg)	MYO18B (T121R)	Single nucleotide variant (missense variant)	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome +2 more	GUncertain significance
Select item 1028974	NM_032608.7(MYO18B):c.611C>T (p.Ala204Val)	MYO18B (A204V)	Single nucleotide variant (missense variant)	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome	GUncertain significance
Select item 81924	NM_032608.7(MYO18B):c.2626C>T (p.Arg876Ter)	MYO18B (R876*)	Single nucleotide variant (nonsense)	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1028970	NM_032608.7(MYO18B):c.3509C>T (p.Ala1170Val)	MYO18B (A1170V +1 more)	Single nucleotide variant (missense variant)	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome +1 more	GUncertain significance
Select item 1028971	NM_032608.7(MYO18B):c.3527C>T (p.Pro1176Leu)	MYO18B (P1176L +1 more)	Single nucleotide variant (missense variant)	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome +1 more	GUncertain significance
Select item 1032974	NM_032608.7(MYO18B):c.3544C>G (p.Leu1182Val)	MYO18B (L1182V +1 more)	Single nucleotide variant (missense variant)	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome +1 more	GUncertain significance
Select item 1032976	NM_032608.7(MYO18B):c.5239C>T (p.Arg1747Cys)	MYO18B (R1748C +1 more)	Single nucleotide variant (missense variant)	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome +1 more	GUncertain significance
Select item 1028973	NM_032608.7(MYO18B):c.5684G>A (p.Arg1895His)	MYO18B (R1896H +1 more)	Single nucleotide variant (missense variant)	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome +1 more	GUncertain significance
Select item 208842	NM_032608.7(MYO18B):c.6905C>A (p.Ser2302Ter)	MYO18B (S2302* +1 more)	Single nucleotide variant (nonsense)	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome	GLikely pathogenic