Related gene-specific medical variations for Gene (Select 6342) - ClinVar

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

Links from Gene

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362520	NM_002979.5(SCP2):c.973+1G>A	SCP2	Single nucleotide variant (splice donor variant)	Sterol carrier protein 2 deficiency	GLikely pathogenic
Select item 3247944	NC_000001.10:g.(?_53427155)_(53427321_?)dup	SCP2	Duplication	not provided	GLikely pathogenic
Select item 3247943	NC_000001.10:g.(?_53420392)_(53420496_?)del	SCP2	Deletion	not provided	GPathogenic
Select item 1945940	NM_002979.5(SCP2):c.1082-11C>T	LOC129930559, SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1922711	NM_002979.5(SCP2):c.1082-18C>T	LOC129930559, SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1909346	NM_002979.5(SCP2):c.1083T>A (p.Gly361=)	LOC129930559, SCP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1577210	NM_002979.5(SCP2):c.1082-10G>T	LOC129930559, SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1483963	NM_002979.5(SCP2):c.1082-1G>C	LOC129930559, SCP2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1383526	NM_002979.5(SCP2):c.1087G>C (p.Ala363Pro)	LOC129930559, SCP2 (A339P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1296645	NM_002979.5(SCP2):c.-80A>T	LOC129930558, SCP2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign