"Rolfs Rare Disease Consulting, Rolfs Consulting Und Verwaltungs GmbH" - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2687833	NM_001374385.1(ATP8B1):c.3722del (p.Gly1241fs)	ATP8B1-AS1, ATP8B1 (G1191fs +1 more)	Deletion (frameshift variant)	Progressive familial intrahepatic cholestasis type 1	GPathogenic
Select item 595193	NM_001374385.1(ATP8B1):c.2854C>T (p.Arg952Ter)	ATP8B1, ATP8B1-AS1 (R952* +1 more)	Single nucleotide variant (nonsense)	Progressive familial intrahepatic cholestasis type 1 +1 more	GPathogenic
Select item 2687831	NM_001374385.1(ATP8B1):c.2742_2743delinsT (p.Glu914fs)	ATP8B1, ATP8B1-AS1 (E864fs +1 more)	Indel (frameshift variant)	Progressive familial intrahepatic cholestasis type 1	GPathogenic
Select item 2687832	NM_001374385.1(ATP8B1):c.2614dup (p.Gln872fs)	ATP8B1, ATP8B1-AS1 (Q822fs +1 more)	Duplication (frameshift variant)	Progressive familial intrahepatic cholestasis type 1	GPathogenic
Select item 7274	NM_001374385.1(ATP8B1):c.1804C>T (p.Arg602Ter)	ATP8B1 (R602* +1 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 502324	NM_001374385.1(ATP8B1):c.1799G>A (p.Arg600Gln)	ATP8B1 (R600Q +1 more)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 1 +3 more	GPathogenic/Likely pathogenic
Select item 2687830	NM_001374385.1(ATP8B1):c.696_697inv (p.Gly233Arg)	ATP8B1 (G183R +1 more)	Inversion (missense variant)	Progressive familial intrahepatic cholestasis type 1	GLikely pathogenic
Select item 973551	NM_001374385.1(ATP8B1):c.589_592delinsCTCCA (p.Gly197fs)	ATP8B1 (G197fs +1 more)	Indel (frameshift variant)	Familial intrahepatic cholestasis type 1 +2 more	GPathogenic
Select item 2687798	NM_001374385.1(ATP8B1):c.555-1G>C	ATP8B1	Single nucleotide variant (splice acceptor variant)	Progressive familial intrahepatic cholestasis type 1	GPathogenic