"PreventionGenetics, part of Exact Sciences"[submitter] AND "LOC126862 - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3036782	NM_001374385.1(ATP8B1):c.1029+6T>G	ATP8B1, LOC126862761	Single nucleotide variant (intron variant)	ATP8B1-related disorder	GLikely benign
Select item 3036017	NM_001374385.1(ATP8B1):c.1029+5T>G	ATP8B1, LOC126862761	Single nucleotide variant (intron variant)	ATP8B1-related disorder	GLikely benign
Select item 327490	NM_001374385.1(ATP8B1):c.1029+5T>C	ATP8B1, LOC126862761	Single nucleotide variant (intron variant)	Progressive familial intrahepatic cholestasis type 1 +2 more	GConflicting classifications of pathogenicity
Select item 3036363	NM_001374385.1(ATP8B1):c.1029+4T>G	ATP8B1, LOC126862761	Single nucleotide variant (intron variant)	ATP8B1-related disorder	GLikely benign
Select item 386015	NM_001374385.1(ATP8B1):c.1014C>T (p.Asn338=)	LOC126862761, ATP8B1	Single nucleotide variant (synonymous variant)	Progressive familial intrahepatic cholestasis type 1 +3 more	GConflicting classifications of pathogenicity

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