C4693733[trait identifier] AND "Victorian Clinical Genetics Services, - ClinVar

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

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1805778	NM_004446.3(EPRS1):c.3404A>C (p.Gln1135Pro)	EPRS1 (Q1135P)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 15	GUncertain significance
Select item 1680924	NM_004446.3(EPRS1):c.2747G>A (p.Arg916Gln)	EPRS1 (R916Q)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 15 +1 more	GUncertain significance