ClinVar for MedGen (Select 338115) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1262482	NM_001080483.3(MYMK):c.136-43T>C	MYMK	Single nucleotide variant (intron variant)	Congenital nonprogressive myopathy with Moebius and Robin sequences +1 more	GBenign
Select item 1227520	NM_001080483.3(MYMK):c.136-27T>C	MYMK	Single nucleotide variant (intron variant)	Congenital nonprogressive myopathy with Moebius and Robin sequences +1 more	GBenign
Select item 1179965	NM_001080483.3(MYMK):c.534T>C (p.Tyr178=)	MYMK	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1031044	NM_001080483.3(MYMK):c.535G>A (p.Val179Ile)	MYMK (V179I)	Single nucleotide variant (missense variant)	Congenital nonprogressive myopathy with Moebius and Robin sequences	GUncertain significance
Select item 989380	NM_001080483.3(MYMK):c.481G>C (p.Gly161Arg)	MYMK (G161R)	Single nucleotide variant (missense variant)	Congenital nonprogressive myopathy with Moebius and Robin sequences	GUncertain significance
Select item 986372	NM_001080483.3(MYMK):c.482_483insCCCA (p.Ala162fs)	MYMK (A162fs)	Insertion (frameshift variant)	Congenital nonprogressive myopathy with Moebius and Robin sequences	GUncertain significance
Select item 870390	NM_001080483.3(MYMK):c.305T>C (p.Leu102Pro)	MYMK (L102P)	Single nucleotide variant (missense variant)	Congenital nonprogressive myopathy with Moebius and Robin sequences	GLikely pathogenic
Select item 813960	NM_001080483.3(MYMK):c.399+5G>A	MYMK	Single nucleotide variant (intron variant)	Congenital nonprogressive myopathy with Moebius and Robin sequences +1 more	GUncertain significance
Select item 430843	NM_001080483.3(MYMK):c.461T>C (p.Ile154Thr)	MYMK (I154T)	Single nucleotide variant (missense variant)	Congenital nonprogressive myopathy with Moebius and Robin sequences	GPathogenic
Select item 430842	NM_001080483.3(MYMK):c.2T>A (p.Met1Lys)	MYMK (M1K)	Single nucleotide variant (missense variant +1 more)	Congenital nonprogressive myopathy with Moebius and Robin sequences	GPathogenic
Select item 430841	NM_001080483.3(MYMK):c.298G>A (p.Gly100Ser)	MYMK (G100S)	Single nucleotide variant (missense variant)	See cases +1 more	GPathogenic/Likely pathogenic
Select item 430840	NM_001080483.3(MYMK):c.553T>C (p.Cys185Arg)	MYMK (C185R)	Single nucleotide variant (missense variant)	Congenital nonprogressive myopathy with Moebius and Robin sequences	GPathogenic
Select item 430839	NM_001080483.3(MYMK):c.271C>A (p.Pro91Thr)	MYMK (P91T)	Single nucleotide variant (missense variant)	Carey-Fineman-Ziter syndrome 1 +2 more	GPathogenic/Likely pathogenic