ClinVar for MedGen (Select 1804638) - ClinVar

Format

Sort by

Choose Destination

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3251986	NM_001080483.3(MYMK):c.428T>C (p.Leu143Pro)	MYMK (L143P)	Single nucleotide variant (missense variant)	Carey-Fineman-Ziter syndrome 1	GUncertain significance
Select item 2433959	NM_001080483.3(MYMK):c.8C>T (p.Thr3Met)	MYMK (T3M)	Single nucleotide variant (missense variant)	Carey-Fineman-Ziter syndrome 1	GUncertain significance
Select item 430839	NM_001080483.3(MYMK):c.271C>A (p.Pro91Thr)	MYMK (P91T)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic

Format

Sort by

Choose Destination

ClinVar