ClinVar for MedGen (Select 338115) - ClinVar - NCBI

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Items: 13

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 12624821.	NM_001080483.3(MYMK):c.136-43T>C GRCh37: Chr9:136385453 GRCh38: Chr9:133520331	MYMK		Congenital nonprogressive myopathy with Moebius and Robin sequences, not provided	Benign (Sep 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12275202.	NM_001080483.3(MYMK):c.136-27T>C GRCh37: Chr9:136385437 GRCh38: Chr9:133520315	MYMK		not provided, Congenital nonprogressive myopathy with Moebius and Robin sequences	Benign (Sep 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 11799653.	NM_001080483.3(MYMK):c.534T>C (p.Tyr178=) GRCh37: Chr9:136379890 GRCh38: Chr9:133514768	MYMK		Congenital nonprogressive myopathy with Moebius and Robin sequences, not provided	Benign (Sep 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10310444.	NM_001080483.3(MYMK):c.535G>A (p.Val179Ile) GRCh37: Chr9:136379889 GRCh38: Chr9:133514767	MYMK	V179I	Congenital nonprogressive myopathy with Moebius and Robin sequences	Uncertain significance (Jan 16, 2020)	criteria provided, single submitter
Select item 9893805.	NM_001080483.3(MYMK):c.481G>C (p.Gly161Arg) GRCh37: Chr9:136380648 GRCh38: Chr9:133515526	MYMK	G161R	Congenital nonprogressive myopathy with Moebius and Robin sequences	Uncertain significance (Jun 4, 2019)	criteria provided, single submitter
Select item 9863726.	NM_001080483.3(MYMK):c.482_483insCCCA (p.Ala162fs) GRCh37: Chr9:136380646-136380647 GRCh38: Chr9:133515524-133515525	MYMK	A162fs	Congenital nonprogressive myopathy with Moebius and Robin sequences	Uncertain significance (Nov 16, 2020)	criteria provided, single submitter
Select item 8703907.	NM_001080483.3(MYMK):c.305T>C (p.Leu102Pro) GRCh37: Chr9:136384090 GRCh38: Chr9:133518968	MYMK	L102P	Congenital nonprogressive myopathy with Moebius and Robin sequences	Likely pathogenic (Oct 19, 2020)	criteria provided, single submitter
Select item 8139608.	NM_001080483.3(MYMK):c.399+5G>A GRCh37: Chr9:136383991 GRCh38: Chr9:133518869	MYMK		not provided, Congenital nonprogressive myopathy with Moebius and Robin sequences	Uncertain significance (Oct 16, 2019)	criteria provided, multiple submitters, no conflicts
Select item 4308439.	NM_001080483.3(MYMK):c.461T>C (p.Ile154Thr) GRCh37: Chr9:136380668 GRCh38: Chr9:133515546	MYMK	I154T	Congenital nonprogressive myopathy with Moebius and Robin sequences	Pathogenic (Jul 19, 2017)	no assertion criteria provided
Select item 43084210.	NM_001080483.3(MYMK):c.2T>A (p.Met1Lys) GRCh37: Chr9:136389965 GRCh38: Chr9:133524843	MYMK	M1K	Congenital nonprogressive myopathy with Moebius and Robin sequences	Pathogenic (Jul 19, 2017)	no assertion criteria provided
Select item 43084111.	NM_001080483.3(MYMK):c.298G>A (p.Gly100Ser) GRCh37: Chr9:136384097 GRCh38: Chr9:133518975	MYMK	G100S	See cases	Likely pathogenic (Jan 23, 2020)	criteria provided, single submitter
Select item 43084012.	NM_001080483.3(MYMK):c.553T>C (p.Cys185Arg) GRCh37: Chr9:136379871 GRCh38: Chr9:133514749	MYMK	C185R	Congenital nonprogressive myopathy with Moebius and Robin sequences	Pathogenic (Jan 7, 2019)	no assertion criteria provided
Select item 43083913.	NM_001080483.3(MYMK):c.271C>A (p.Pro91Thr) GRCh37: Chr9:136384124 GRCh38: Chr9:133519002	MYMK	P91T	MYMK-related condition, Carey-Fineman-Ziter syndrome 1, Congenital nonprogressive myopathy with Moebius and Robin sequences, not provided	Conflicting interpretations of pathogenicity (Apr 3, 2023)	criteria provided, conflicting interpretations