"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar

Format

Sort by

Choose Destination

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 5533	NM_014249.4(NR2E3):c.166G>A (p.Gly56Arg)	NR2E3 (G56R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 286837	NM_014249.4(NR2E3):c.230G>A (p.Arg77Gln)	NR2E3 (R77Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 438228	NM_014249.4(NR2E3):c.311G>A (p.Arg104Gln)	NR2E3 (R104Q)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic

Format

Sort by

Choose Destination

ClinVar