Related gene-specific medical variations for Gene (Select 6635) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066047	NM_003094.4(SNRPE):c.54+2T>A	LOC112577531, SNRPE	Single nucleotide variant (5 prime UTR variant +2 more)	Hypotrichosis 11	GPathogenic
Select item 3057620	NM_003094.4(SNRPE):c.-3A>G	LOC112577531, SNRPE	Single nucleotide variant (5 prime UTR variant +1 more)	SNRPE-related disorder	GLikely benign
Select item 3033230	NM_003094.4(SNRPE):c.54+10G>A	LOC112577531, SNRPE	Single nucleotide variant (5 prime UTR variant +2 more)	SNRPE-related disorder	GLikely benign
Select item 2893866	NM_003094.4(SNRPE):c.14G>C (p.Gly5Ala)	LOC112577531, SNRPE (G5A)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1507008	NM_003094.4(SNRPE):c.1A>T (p.Met1Leu)	LOC112577531, SNRPE (M1L)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 39505	NM_003094.4(SNRPE):c.1A>G (p.Met1Val)	LOC112577531, SNRPE (M1V)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided +1 more	GPathogenic/Likely pathogenic

ClinVar