"Illumina Laboratory Services, Illumina"[submitter] AND "LOC126859653" - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 356322	NM_006929.5(SKIC2):c.954C>T (p.Ala318=)	LOC126859653, SKIC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 377168	NM_006929.5(SKIC2):c.970C>T (p.Arg324Trp)	LOC126859653, SKIC2 (R324W)	Single nucleotide variant (missense variant)	Trichohepatoenteric syndrome 2 +2 more	GBenign/Likely benign
Select item 905832	NM_006929.5(SKIC2):c.990C>T (p.Val330=)	LOC126859653, SKIC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 905833	NM_006929.5(SKIC2):c.1020T>C (p.Val340=)	LOC126859653, SKIC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 356323	NM_006929.5(SKIC2):c.1041C>T (p.Ala347=)	LOC126859653, SKIC2	Single nucleotide variant (synonymous variant)	Trichohepatoenteric syndrome 2 +2 more	GBenign
Select item 235728	NM_006929.5(SKIC2):c.1120C>T (p.Arg374Ter)	LOC126859653, SKIC2 (R374*)	Single nucleotide variant (nonsense)	Trichohepatoenteric syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 906344	NM_006929.5(SKIC2):c.1132G>A (p.Gly378Arg)	LOC126859653, SKIC2 (G378R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 906345	NM_006929.5(SKIC2):c.1145T>A (p.Leu382Gln)	LOC126859653, SKIC2 (L382Q)	Single nucleotide variant (missense variant)	Trichohepatoenteric syndrome 2	GUncertain significance
Select item 356324	NM_006929.5(SKIC2):c.1151C>T (p.Thr384Ile)	LOC126859653, SKIC2 (T384I)	Single nucleotide variant (missense variant)	Trichohepatoenteric syndrome 2	GUncertain significance
Select item 356325	NM_006929.5(SKIC2):c.1173G>A (p.Pro391=)	LOC126859653, SKIC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 906346	NM_006929.5(SKIC2):c.1177G>A (p.Ala393Thr)	LOC126859653, SKIC2 (A393T)	Single nucleotide variant (missense variant)	Trichohepatoenteric syndrome 2	GUncertain significance
Select item 356326	NM_006929.5(SKIC2):c.1200A>G (p.Thr400=)	LOC126859653, SKIC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 906347	NM_006929.5(SKIC2):c.1243C>T (p.Arg415Trp)	LOC126859653, SKIC2 (R415W)	Single nucleotide variant (missense variant)	Trichohepatoenteric syndrome 2	GUncertain significance