"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar - NCBI

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

Search results

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 197471	NM_014639.4(SKIC3):c.4497-14dup	SKIC3	Duplication (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 282565	NM_014639.4(SKIC3):c.4344A>G (p.Leu1448=)	SKIC3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 235756	NM_014639.4(SKIC3):c.4187A>G (p.Asn1396Ser)	SKIC3 (N1396S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 703237	NM_014639.4(SKIC3):c.4004G>A (p.Gly1335Asp)	SKIC3 (G1335D)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 701966	NM_014639.4(SKIC3):c.3093-9A>G	SKIC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 810934	NM_014639.4(SKIC3):c.3015-4del	SKIC3	Deletion (intron variant)	not provided	GBenign
Select item 702182	NM_014639.4(SKIC3):c.2599T>G (p.Leu867Val)	SKIC3 (L867V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 31236	NM_014639.4(SKIC3):c.2578-7_2578-3del	SKIC3	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 703882	NM_014639.4(SKIC3):c.2077G>A (p.Val693Ile)	SKIC3 (V693I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 194654	NM_014639.4(SKIC3):c.1427C>G (p.Thr476Arg)	SKIC3 (T476R)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign