ClinVar for MedGen (Select 1385755) - 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 417760	NM_001696.4(ATP6V1E1):c.634C>T (p.Arg212Trp)	ATP6V1E1 (R212W +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive cutis laxa type 2C +1 more	GPathogenic/Likely pathogenic
Select item 417759	NM_001696.4(ATP6V1E1):c.383T>C (p.Leu128Pro)	ATP6V1E1 (L128P +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive cutis laxa type 2C	GPathogenic