"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "SIM2"[g - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 779193	NM_005069.6(SIM2):c.387T>C (p.His129=)	SIM2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 723859	NM_005069.6(SIM2):c.648G>A (p.Ser216=)	SIM2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777618	NM_005069.6(SIM2):c.1386G>A (p.Pro462=)	SIM2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 770007	NM_005069.6(SIM2):c.1704G>C (p.Gly568=)	LOC130066635, SIM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 758382	NM_005069.6(SIM2):c.1788C>T (p.Pro596=)	LOC130066635, SIM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3248159	NC_000021.8:g.(?_37133458)_(38884834_?)dup	CBR1, CBR3 +12 more	Duplication	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 3248147	NC_000021.8:g.(?_37707582)_(38139606_?)del	CHAF1B, CLDN14 +3 more	Deletion	Holocarboxylase synthetase deficiency	GPathogenic
Select item 1412731	NC_000021.8:g.(?_37507491)_(39212984_?)dup	CBR3, CHAF1B +11 more	Duplication	not provided	GUncertain significance
Select item 1409651	NC_000021.8:g.(?_32439271)_(39212984_?)dup	ATP5PO, CBR1 +48 more	Duplication	DYRK1A-related intellectual disability syndrome +3 more	GUncertain significance
Select item 1061008	NC_000021.8:g.(?_37833274)_(39212984_?)dup	CLDN14, DYRK1A +7 more	Duplication	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 666223	NC_000021.8:g.(?_37133458)_(38311203_?)dup	CBR1, CBR3 +7 more	Duplication	Holocarboxylase synthetase deficiency	GUncertain significance