"Ambry Genetics"[submitter] AND "MYO18B-AS1"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1417789	NM_032608.7(MYO18B):c.4318G>A (p.Ala1440Thr)	MYO18B, MYO18B-AS1 (A1440T +1 more)	Single nucleotide variant (missense variant)	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome +2 more	GUncertain significance
Select item 1163668	NM_032608.7(MYO18B):c.4390C>T (p.Arg1464Trp)	MYO18B, MYO18B-AS1 (R1464W +1 more)	Single nucleotide variant (missense variant)	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome +2 more	GUncertain significance
Select item 2884248	NM_032608.7(MYO18B):c.4391G>A (p.Arg1464Gln)	MYO18B, MYO18B-AS1 (R1464Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2255088	NM_032608.7(MYO18B):c.4456A>G (p.Lys1486Glu)	MYO18B, MYO18B-AS1 (K1487E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297747	NM_032608.7(MYO18B):c.4526G>C (p.Arg1509Thr)	MYO18B, MYO18B-AS1 (R1509T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1359191	NM_032608.7(MYO18B):c.4549G>A (p.Glu1517Lys)	MYO18B-AS1, MYO18B (E1517K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1163669	NM_032608.7(MYO18B):c.4588G>A (p.Glu1530Lys)	MYO18B, MYO18B-AS1 (E1530K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2326315	NM_032608.7(MYO18B):c.4645G>T (p.Ala1549Ser)	MYO18B, MYO18B-AS1 (A1549S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1472713	NM_032608.7(MYO18B):c.4696G>A (p.Gly1566Arg)	MYO18B, MYO18B-AS1 (G1567R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1163670	NM_032608.7(MYO18B):c.4766G>A (p.Cys1589Tyr)	MYO18B, MYO18B-AS1 (C1589Y +1 more)	Single nucleotide variant (missense variant)	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome +2 more	GUncertain significance
Select item 1363372	NM_032608.7(MYO18B):c.4768G>A (p.Val1590Ile)	MYO18B, MYO18B-AS1 (V1590I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance