"Center for Genomic Medicine, King Faisal Specialist Hospital and Rese - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064147	NM_000443.4(ABCB4):c.3838T>A (p.Ter1280Arg)	ABCB4	Single nucleotide variant (stop lost)	Cholestasis, intrahepatic, of pregnancy, 3	GLikely pathogenic
Select item 3065637	NM_000443.4(ABCB4):c.3506G>A (p.Gly1169Glu)	ABCB4 (G1122E +2 more)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 3	GLikely pathogenic
Select item 191220	NM_000443.4(ABCB4):c.2906G>A (p.Arg969His)	ABCB4 (R969H)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 281139	NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr)	ABCB4 (A934T)	Single nucleotide variant (missense variant +1 more)	Progressive familial intrahepatic cholestasis type 1 +7 more	GConflicting classifications of pathogenicity
Select item 2271397	NM_000443.4(ABCB4):c.2287A>T (p.Ile763Phe)	ABCB4 (I763F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3065923	NM_000443.4(ABCB4):c.1846G>C (p.Glu616Gln)	ABCB4 (E616Q)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 3 +1 more	GUncertain significance
Select item 1685490	NM_000443.4(ABCB4):c.1744C>T (p.Arg582Trp)	ABCB4 (R582W)	Single nucleotide variant (missense variant)	Low phospholipid associated cholelithiasis +1 more	GConflicting classifications of pathogenicity
Select item 3233386	NM_000443.4(ABCB4):c.1560+3A>G	ABCB4	Single nucleotide variant (intron variant)	Cholestasis, intrahepatic, of pregnancy, 3	GUncertain significance
Select item 291252	NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser)	ABCB4 (N510S)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 3064873	NM_000443.4(ABCB4):c.1528A>G (p.Asn510Asp)	ABCB4 (N510D)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 3	GUncertain significance
Select item 595095	NM_000443.4(ABCB4):c.1378A>T (p.Ile460Phe)	ABCB4 (I460F)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 3 +2 more	GConflicting classifications of pathogenicity
Select item 3067853	NM_000443.4(ABCB4):c.1196T>C (p.Val399Ala)	ABCB4 (V399A)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 3	GLikely pathogenic
Select item 3064724	NM_000443.4(ABCB4):c.793A>T (p.Thr265Ser)	ABCB4 (T265S)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 3	GLikely pathogenic
Select item 3067871	NM_000443.4(ABCB4):c.766G>A (p.Ala256Thr)	ABCB4 (A256T)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 3	GLikely pathogenic
Select item 3065357	NM_000443.4(ABCB4):c.742G>C (p.Ala248Pro)	ABCB4 (A248P)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 3	GUncertain significance
Select item 372802	NM_000443.4(ABCB4):c.526C>T (p.Arg176Trp)	ABCB4 (R176W)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 3 +3 more	GPathogenic/Likely pathogenic
Select item 3065138	NM_000443.4(ABCB4):c.334G>T (p.Glu112Ter)	ABCB4 (E112*)	Single nucleotide variant (nonsense)	Cholestasis, intrahepatic, of pregnancy, 3	GLikely pathogenic
Select item 196273	NM_000443.4(ABCB4):c.101C>T (p.Thr34Met)	ABCB4 (T34M)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 1 +5 more	GConflicting classifications of pathogenicity