Related gene-specific medical variations for Gene (Select 122455337) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3041218	NM_001352514.2(HLCS):c.27C>T (p.Tyr9=)	HLCS, HLCS-AS1 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	HLCS-related condition	GLikely benign
Select item 2652652	NM_001352514.2(HLCS):c.165C>A (p.Gly55=)	HLCS, HLCS-AS1	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GLikely benign
Select item 2571147	NM_001352514.2(HLCS):c.130C>G (p.Gln44Glu)	HLCS, HLCS-AS1 (Q44E)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1267672	NM_000411.8(HLCS):c.-392-4553C>T	LOC130066637, HLCS +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260725	NM_000411.8(HLCS):c.-392-4660A>C	HLCS, HLCS-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237484	NM_000411.8(HLCS):c.-392-4557G>A	HLCS, HLCS-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232132	NM_001352514.2(HLCS):c.-31A>G	HLCS, HLCS-AS1 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1217966	NM_000411.8(HLCS):c.-392-4558G>C	HLCS, HLCS-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1050444	NM_001352514.2(HLCS):c.95C>T (p.Ser32Leu)	HLCS, HLCS-AS1 (S32L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance

ClinVar