"Illumina Laboratory Services, Illumina"[submitter] AND "SC5D"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 303048	NM_006918.4(SC5D):c.-127T>G	SC5D	Single nucleotide variant	Lathosterolosis	GUncertain significance
Select item 303049	NM_006918.4(SC5D):c.-94C>G	SC5D, LOC130006930	Single nucleotide variant	Lathosterolosis	GUncertain significance
Select item 303050	NM_006918.4(SC5D):c.-91C>G	LOC130006930, SC5D	Single nucleotide variant	Lathosterolosis	GUncertain significance
Select item 879882	NM_006918.5(SC5D):c.151A>G (p.Thr51Ala)	SC5D (T51A)	Single nucleotide variant (missense variant)	Lathosterolosis	GUncertain significance
Select item 879883	NM_006918.5(SC5D):c.181G>A (p.Ala61Thr)	SC5D (A61T)	Single nucleotide variant (missense variant)	Lathosterolosis	GUncertain significance
Select item 677238	NM_006918.5(SC5D):c.211-8A>T	SC5D	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 303051	NM_006918.5(SC5D):c.224G>A (p.Arg75Gln)	SC5D (R75Q)	Single nucleotide variant (missense variant)	Lathosterolosis	GUncertain significance
Select item 303052	NM_006918.5(SC5D):c.343+3A>G	SC5D	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 877943	NM_006918.5(SC5D):c.344-15C>T	SC5D	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 303053	NM_006918.5(SC5D):c.344-8T>C	SC5D	Single nucleotide variant (intron variant)	Lathosterolosis	GUncertain significance
Select item 303054	NM_006918.5(SC5D):c.444+11T>C	SC5D	Single nucleotide variant (intron variant)	Lathosterolosis +1 more	GConflicting classifications of pathogenicity
Select item 303055	NM_006918.5(SC5D):c.447C>T (p.Arg149=)	SC5D	Single nucleotide variant (synonymous variant)	Lathosterolosis	GUncertain significance
Select item 733321	NM_006918.5(SC5D):c.544A>G (p.Ile182Val)	SC5D (I182V)	Single nucleotide variant (missense variant)	Lathosterolosis +1 more	GBenign
Select item 877944	NM_006918.5(SC5D):c.624T>G (p.Ile208Met)	SC5D (I208M)	Single nucleotide variant (missense variant)	Lathosterolosis	GUncertain significance
Select item 877945	NM_006918.5(SC5D):c.662C>T (p.Pro221Leu)	SC5D (P221L)	Single nucleotide variant (missense variant)	Lathosterolosis	GUncertain significance
Select item 303056	NM_006918.5(SC5D):c.753C>T (p.Gly251=)	SC5D	Single nucleotide variant (synonymous variant)	Lathosterolosis +1 more	GConflicting classifications of pathogenicity
Select item 878105	NM_006918.5(SC5D):c.843A>G (p.Ser281=)	SC5D	Single nucleotide variant (synonymous variant)	Lathosterolosis	GUncertain significance
Select item 303057	NM_006918.5(SC5D):c.*81A>C	SC5D	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 878106	NM_006918.5(SC5D):c.*99C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 878107	NM_006918.5(SC5D):c.*160G>A	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 878108	NM_006918.5(SC5D):c.*229G>A	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303058	NM_006918.5(SC5D):c.*263G>A	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GLikely benign
Select item 303059	NM_006918.5(SC5D):c.*313A>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303060	NM_006918.5(SC5D):c.*367A>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303061	NM_006918.5(SC5D):c.*512G>A	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 879562	NM_006918.5(SC5D):c.*582A>G	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 879563	NM_006918.5(SC5D):c.*584C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303062	NM_006918.5(SC5D):c.*598T>C	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 879564	NM_006918.5(SC5D):c.*622C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 879565	NM_006918.5(SC5D):c.*628C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303063	NM_006918.5(SC5D):c.*981C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303064	NM_006918.5(SC5D):c.*1012T>C	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303065	NM_006918.5(SC5D):c.1087_1090del	SC5D	Deletion (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303066	NM_006918.5(SC5D):c.*1195A>G	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GLikely benign
Select item 303067	NM_006918.5(SC5D):c.*1196T>A	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303068	NM_006918.5(SC5D):c.*1223A>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 879925	NM_006918.5(SC5D):c.*1305A>C	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303069	NM_006918.5(SC5D):c.*1328C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GBenign
Select item 879926	NM_006918.5(SC5D):c.*1468C>G	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GLikely benign
Select item 303070	NM_006918.5(SC5D):c.*1626A>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GBenign
Select item 877120	NM_006918.5(SC5D):c.*1681T>C	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 877121	NM_006918.5(SC5D):c.*1685C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303071	NM_006918.5(SC5D):c.*1711T>C	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 877122	NM_006918.5(SC5D):c.*1720C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303072	NM_006918.5(SC5D):c.*1818A>G	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303073	NM_006918.5(SC5D):c.*1851C>G	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GBenign
Select item 303074	NM_006918.5(SC5D):c.*1860A>G	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303075	NM_006918.5(SC5D):c.*1876G>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303076	NM_006918.5(SC5D):c.*2183C>G	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GLikely benign
Select item 878152	NM_006918.5(SC5D):c.*2212C>A	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303077	NM_006918.5(SC5D):c.*2265C>G	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GBenign
Select item 303078	NM_006918.5(SC5D):c.*2277A>G	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 878153	NM_006918.5(SC5D):c.*2363G>A	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 878154	NM_006918.5(SC5D):c.*2430C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303079	NM_006918.5(SC5D):c.*2477C>G	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303080	NM_006918.5(SC5D):c.*2520A>G	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303081	NM_006918.5(SC5D):c.*2648A>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303082	NM_006918.5(SC5D):c.*2653A>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303083	NM_006918.5(SC5D):c.*2662G>A	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GBenign
Select item 879614	NM_006918.5(SC5D):c.*2802A>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303084	NM_006918.5(SC5D):c.*2819T>C	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 879615	NM_006918.5(SC5D):c.*2864G>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 879616	NM_006918.5(SC5D):c.*2873A>G	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 879972	NM_006918.5(SC5D):c.*2879G>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303085	NM_006918.5(SC5D):c.*2943C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303086	NM_006918.5(SC5D):c.*2962del	SC5D	Deletion (3 prime UTR variant)	Lathosterolosis	GBenign
Select item 303087	NM_006918.5(SC5D):c.*2963del	SC5D	Deletion (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303088	NM_006918.5(SC5D):c.*2986C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GBenign
Select item 879973	NM_006918.5(SC5D):c.*3003T>A	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 879974	NM_006918.5(SC5D):c.*3006C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 879975	NM_006918.5(SC5D):c.*3065C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 879976	NM_006918.5(SC5D):c.*3070C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GBenign
Select item 303089	NM_006918.5(SC5D):c.*3095G>A	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303090	NM_006918.5(SC5D):c.*3106G>A	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 877179	NM_006918.5(SC5D):c.*3110G>A	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 877180	NM_006918.5(SC5D):c.*3116T>C	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 877181	NM_006918.5(SC5D):c.*3175C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303091	NM_006918.5(SC5D):c.*3184A>G	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 877182	NM_006918.5(SC5D):c.*3196C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GBenign
Select item 303092	NM_006918.5(SC5D):c.*3200G>A	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303093	NM_006918.5(SC5D):c.*3225G>A	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 877183	NM_006918.5(SC5D):c.*3246C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303094	NM_006918.5(SC5D):c.*3312A>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303095	NM_006918.5(SC5D):c.*3345C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GBenign
Select item 303096	NM_006918.5(SC5D):c.*3346G>A	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303097	NM_006918.5(SC5D):c.*3472A>G	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GBenign
Select item 303098	NM_006918.5(SC5D):c.*3599C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303099	NM_006918.5(SC5D):c.*3627A>G	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GBenign
Select item 303100	NM_006918.5(SC5D):c.*3665C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 878217	NM_006918.5(SC5D):c.*3699G>A	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GLikely benign
Select item 303101	NM_006918.5(SC5D):c.3793_3794del	SC5D	Deletion (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 879666	NM_006918.5(SC5D):c.*3937C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303102	NM_006918.5(SC5D):c.*3955C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 879667	NM_006918.5(SC5D):c.*4087T>C	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 879668	NM_006918.5(SC5D):c.*4342C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GLikely benign
Select item 303103	NM_006918.5(SC5D):c.*4400T>C	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303104	NM_006918.5(SC5D):c.*4432T>A	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 879669	NM_006918.5(SC5D):c.*4454G>A	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 879670	NM_006918.5(SC5D):c.*4469G>A	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 880035	NM_006918.5(SC5D):c.*4576T>A	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance

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