"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LOC1268 - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 663413	NC_000018.9:g.(?_55225777)_(56940458_?)dup	LOC130062566, LOC130062567 +87 more	Duplication	not provided	GUncertain significance
Select item 384899	NM_001374385.1(ATP8B1):c.1029+19A>C	ATP8B1, LOC126862761	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 2742950	NM_001374385.1(ATP8B1):c.1029+7A>G	ATP8B1, LOC126862761	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2735130	NM_001374385.1(ATP8B1):c.1029+1G>A	ATP8B1, LOC126862761	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1164071	NM_001374385.1(ATP8B1):c.1029G>A (p.Thr343=)	ATP8B1, LOC126862761	Single nucleotide variant (synonymous variant)	Progressive familial intrahepatic cholestasis type 1 +1 more	GPathogenic/Likely pathogenic
Select item 2747143	NM_001374385.1(ATP8B1):c.1026C>T (p.Tyr342=)	ATP8B1, LOC126862761	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 386015	NM_001374385.1(ATP8B1):c.1014C>T (p.Asn338=)	LOC126862761, ATP8B1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3005372	NM_001374385.1(ATP8B1):c.1006T>C (p.Leu336=)	ATP8B1, LOC126862761	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2777527	NM_001374385.1(ATP8B1):c.1005C>T (p.Tyr335=)	ATP8B1, LOC126862761	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010622	NM_001374385.1(ATP8B1):c.969T>C (p.Ser323=)	ATP8B1, LOC126862761	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885151	NM_001374385.1(ATP8B1):c.966T>C (p.Asn322=)	ATP8B1, LOC126862761	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2782553	NM_001374385.1(ATP8B1):c.941-11dup	ATP8B1, LOC126862761	Duplication (intron variant)	not provided	GBenign
Select item 2959920	NM_001374385.1(ATP8B1):c.941-19T>C	ATP8B1, LOC126862761	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 489152	NM_001374385.1(ATP8B1):c.941-20A>G	ATP8B1, LOC126862761	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity