ClinVar for MedGen (Select 1824021) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Links from MedGen

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1712500	NM_024041.4(SCNM1):c.187del (p.Arg63fs)	SCNM1, TNFAIP8L2-SCNM1 (R28fs +1 more)	Deletion (frameshift variant +1 more)	Orofaciodigital syndrome 19	GPathogenic
Select item 1712499	NM_024041.4:c.301_302ins[N[324];285_301]	SCNM1	Insertion	Orofaciodigital syndrome 19	GPathogenic
Select item 1712498	NM_024041.4(SCNM1):c.152C>A (p.Pro51Gln)	SCNM1, TNFAIP8L2-SCNM1 (P51Q +1 more)	Single nucleotide variant (missense variant +1 more)	Orofaciodigital syndrome 19	GPathogenic

Format

Sort by

Choose Destination