"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "SULT1C3 - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 464169	Single allele	CCDC138, EDAR +31 more	Duplication	Congenital myasthenic syndrome 20 +1 more	GUncertain significance
Select item 784989	NM_001320878.2(SULT1C3):c.262G>A (p.Ala88Thr)	SULT1C3 (A88T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 767813	NM_001320878.2(SULT1C3):c.607G>A (p.Glu203Lys)	SULT1C3 (E203K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2426740	NC_000002.11:g.(?_108604612)_(109579739_?)del	CCDC138, EDAR +7 more	Deletion	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 2425552	NC_000002.11:g.(?_108604612)_(109579739_?)dup	CCDC138, EDAR +7 more	Duplication	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 1444169	NC_000002.11:g.(?_108604612)_(109378671_?)dup	GCC2, LIMS1 +5 more	Duplication	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 1064222	NC_000002.11:g.(?_108604612)_(109336154_?)dup	GCC2, LIMS1 +5 more	Duplication	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 833287	NC_000002.12:g.(?_107988146)_(108963283_?)dup	CCDC138, EDAR +7 more	Duplication	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 830541	NC_000002.12:g.(?_107988146)_(108963283_?)del	SULT1C2, SULT1C3 +7 more	Deletion	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance