ClinVar for MedGen (Select 762759) - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068233	NM_001374385.1(ATP8B1):c.886C>A (p.Arg296Ser)	ATP8B1 (R246S +1 more)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 1	GLikely pathogenic
Select item 3065818	NM_001374385.1(ATP8B1):c.698+1G>T	ATP8B1	Single nucleotide variant (splice donor variant)	Cholestasis, intrahepatic, of pregnancy, 1	GLikely pathogenic
Select item 3064870	NM_001374385.1(ATP8B1):c.68C>T (p.Pro23Leu)	ATP8B1 (P23L +1 more)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 1	GUncertain significance
Select item 2690550	NM_001374385.1(ATP8B1):c.136C>T (p.Arg46Ter)	ATP8B1 (R46*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1192348	NM_001374385.1(ATP8B1):c.1430-126_1430-124del	ATP8B1	Microsatellite (intron variant)	Cholestasis, intrahepatic, of pregnancy, 1 +2 more	GBenign
Select item 1192347	NM_001374385.1(ATP8B1):c.1430-89C>T	ATP8B1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1192346	NM_001374385.1(ATP8B1):c.1932+44C>T	ATP8B1	Single nucleotide variant (intron variant)	Cholestasis, intrahepatic, of pregnancy, 1 +2 more	GBenign
Select item 1192345	NM_001374385.1(ATP8B1):c.3454G>A (p.Ala1152Thr)	ATP8B1, ATP8B1-AS1 (A1102T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1180889	NM_001374385.1(ATP8B1):c.699-52C>T	ATP8B1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 804427	NM_001374385.1(ATP8B1):c.2251G>T (p.Glu751Ter)	ATP8B1, ATP8B1-AS1 (E701* +1 more)	Single nucleotide variant (nonsense)	Progressive familial intrahepatic cholestasis type 1 +1 more	GLikely pathogenic
Select item 594881	NM_001374385.1(ATP8B1):c.1234C>T (p.Arg412Cys)	ATP8B1 (R412C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 500595	NM_001374385.1(ATP8B1):c.212G>A (p.Arg71His)	ATP8B1 (R71H)	Single nucleotide variant (missense variant +1 more)	Progressive familial intrahepatic cholestasis type 1 +3 more	GConflicting classifications of pathogenicity
Select item 500077	NM_001374385.1(ATP8B1):c.26C>T (p.Thr9Met)	ATP8B1 (T9M)	Single nucleotide variant (missense variant +1 more)	Cholestasis, intrahepatic, of pregnancy, 1 +1 more	GUncertain significance
Select item 498425	NM_001374385.1(ATP8B1):c.1981A>G (p.Ile661Val)	ATP8B1 (I661V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 383902	NM_001374385.1(ATP8B1):c.3016-19A>G	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	Progressive familial intrahepatic cholestasis type 1 +4 more	GBenign/Likely benign
Select item 383293	NM_001374385.1(ATP8B1):c.2546G>A (p.Arg849Gln)	ATP8B1-AS1, ATP8B1 (R849Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 327474	NM_001374385.1(ATP8B1):c.2931+14G>A	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	Progressive familial intrahepatic cholestasis type 1 +4 more	GBenign/Likely benign
Select item 290971	NM_001374385.1(ATP8B1):c.134A>C (p.Asn45Thr)	ATP8B1 (N45T +1 more)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 1 +4 more	GLikely benign
Select item 259828	NM_001374385.1(ATP8B1):c.811A>C (p.Arg271=)	ATP8B1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 259827	NM_001374385.1(ATP8B1):c.698+20C>T	ATP8B1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 259826	NM_001374385.1(ATP8B1):c.696T>C (p.Asp232=)	ATP8B1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 259823	NM_001374385.1(ATP8B1):c.3532-15C>T	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 259822	NM_001374385.1(ATP8B1):c.3531+8G>T	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 198532	NM_001374385.1(ATP8B1):c.607A>G (p.Lys203Glu)	ATP8B1 (K203E +1 more)	Single nucleotide variant (missense variant)	ATP8B1-related condition +5 more	GConflicting classifications of pathogenicity
Select item 7272	NM_001374385.1(ATP8B1):c.2599C>T (p.Arg867Cys)	ATP8B1, ATP8B1-AS1 (R867C +1 more)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 1	GPathogenic
Select item 7271	NM_001374385.1(ATP8B1):c.208G>A (p.Asp70Asn)	ATP8B1 (D70N)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity

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Items: 26