C1865643[trait identifier] AND "Rolfs Rare Disease Consulting, Rolfs C - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 289975	NM_000443.4(ABCB4):c.3838T>C (p.Ter1280Arg)	ABCB4	Single nucleotide variant (stop lost)	Progressive familial intrahepatic cholestasis type 3 +1 more	GConflicting classifications of pathogenicity
Select item 2687810	NM_000443.4(ABCB4):c.3770del (p.Gln1257fs)	ABCB4 (Q1210fs +2 more)	Deletion (frameshift variant)	Progressive familial intrahepatic cholestasis type 3	GPathogenic
Select item 2687813	NM_000443.4(ABCB4):c.3412del (p.Val1138fs)	ABCB4 (V1091fs +2 more)	Deletion (frameshift variant)	Progressive familial intrahepatic cholestasis type 3	GPathogenic
Select item 2501669	NM_000443.4(ABCB4):c.3220G>A (p.Gly1074Arg)	ABCB4 (G1027R +1 more)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 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 2687820	NM_000443.4(ABCB4):c.2864G>T (p.Cys955Phe)	ABCB4 (C955F)	Single nucleotide variant (missense variant +1 more)	Progressive familial intrahepatic cholestasis type 3	GPathogenic
Select item 2687807	NM_000443.4(ABCB4):c.2861G>A (p.Gly954Asp)	ABCB4 (G954D)	Single nucleotide variant (missense variant +1 more)	Progressive familial intrahepatic cholestasis type 3	GLikely pathogenic
Select item 2136551	NM_000443.4(ABCB4):c.2860G>A (p.Gly954Ser)	ABCB4 (G954S)	Single nucleotide variant (missense variant +1 more)	Progressive familial intrahepatic cholestasis type 3 +1 more	GConflicting classifications of pathogenicity
Select item 2687808	NM_000443.4(ABCB4):c.2306_2309del (p.Phe769fs)	ABCB4 (F769fs)	Deletion (frameshift variant)	Progressive familial intrahepatic cholestasis type 3	GPathogenic
Select item 194709	NM_000443.4(ABCB4):c.2177C>T (p.Pro726Leu)	ABCB4 (P726L)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 2687822	NM_000443.4(ABCB4):c.2064+5G>A	ABCB4	Single nucleotide variant (intron variant)	Progressive familial intrahepatic cholestasis type 3	GUncertain significance
Select item 2687836	NM_000443.4(ABCB4):c.1906C>T (p.Gln636Ter)	ABCB4 (Q636*)	Single nucleotide variant (nonsense)	Progressive familial intrahepatic cholestasis type 3	GLikely pathogenic
Select item 973519	NM_000443.4(ABCB4):c.1783C>T (p.Arg595Ter)	ABCB4 (R595*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 2687811	NM_000443.4(ABCB4):c.1733C>T (p.Ala578Val)	ABCB4 (A578V)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 3	GPathogenic
Select item 802328	NM_000443.4(ABCB4):c.1714C>T (p.Gln572Ter)	ABCB4 (Q572*)	Single nucleotide variant (nonsense)	Progressive familial intrahepatic cholestasis type 1 +2 more	GPathogenic
Select item 2687815	NM_000443.4(ABCB4):c.1635del (p.Ala546fs)	ABCB4 (A546fs)	Deletion (frameshift variant)	Progressive familial intrahepatic cholestasis type 3	GPathogenic
Select item 2687819	NM_000443.4(ABCB4):c.1634G>A (p.Arg545His)	ABCB4 (R545H)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 3	GLikely pathogenic
Select item 2687816	NM_000443.4(ABCB4):c.1571C>A (p.Thr524Asn)	ABCB4 (T524N)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 3	GLikely pathogenic
Select item 2687809	NM_000443.4(ABCB4):c.1436C>T (p.Pro479Leu)	ABCB4 (P479L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 2687814	NM_000443.4(ABCB4):c.1429C>T (p.Gln477Ter)	ABCB4 (Q477*)	Single nucleotide variant (nonsense)	Progressive familial intrahepatic cholestasis type 3	GLikely pathogenic
Select item 2687817	NM_000443.4(ABCB4):c.944C>A (p.Ala315Asp)	ABCB4 (A315D)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 3	GLikely pathogenic
Select item 973520	NM_000443.4(ABCB4):c.874A>T (p.Lys292Ter)	ABCB4 (K292*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 2687821	NM_000443.4(ABCB4):c.784del (p.Ala262fs)	ABCB4 (A262fs)	Deletion (frameshift variant)	Progressive familial intrahepatic cholestasis type 3	GPathogenic
Select item 13696	NM_000443.4(ABCB4):c.430C>T (p.Arg144Ter)	ABCB4 (R144*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2687812	NM_000443.4(ABCB4):c.153G>A (p.Trp51Ter)	ABCB4 (W51*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2687818	NM_000443.4(ABCB4):c.88_91del (p.Lys30fs)	ABCB4 (K30fs)	Deletion (frameshift variant)	Progressive familial intrahepatic cholestasis type 3	GPathogenic

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Items: 26