LOC130007688[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 58210	GRCh38/hg38 12q12(chr12:39651727-41240339)x3	CNTN1, LINC01779 +25 more	Copy number gain	See cases	GUncertain significance
Select item 1297877	NC_000012.12:g.40224884T>C	LINC01779, LOC130007688 +1 more	Single nucleotide variant	not provided	GBenign
Select item 1196141	NC_000012.12:g.40224903G>A	LINC01779, LOC130007688 +1 more	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 369016	NM_198578.4(LRRK2):c.-124G>C	LOC130007688, LRRK2	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant Parkinson disease 8 +1 more	GBenign/Likely benign
Select item 883497	NM_198578.4(LRRK2):c.-91C>T	LOC130007688, LRRK2	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 881128	NM_198578.4(LRRK2):c.-74C>A	LOC130007688, LRRK2	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 308609	NM_198578.4(LRRK2):c.-44G>A	LOC130007688, LRRK2	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant Parkinson disease 8	GLikely benign

ClinVar