ClinVar for Gene (Select 5243) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3345823	NM_001348946.2(ABCB1):c.2546T>C (p.Ile849Thr)	ABCB1 (I849T +1 more)	Single nucleotide variant (missense variant)	ABCB1-related disorder	GUncertain significance
Select item 3340128	ABCB1, GLN1182TER	ABCB1	Variation	ENCEPHALOPATHY, ACUTE TRANSIENT	GPathogenic
Select item 3340127	NM_001348946.2(ABCB1):c.2786+1G>T	ABCB1	Single nucleotide variant (splice donor variant)	ENCEPHALOPATHY, ACUTE TRANSIENT	GPathogenic
Select item 3340126	NM_000927.4:c.3053-3056del	ABCB1	Deletion	ENCEPHALOPATHY, ACUTE TRANSIENT	GPathogenic
Select item 3340125	NM_001348946.2(ABCB1):c.2380C>T (p.Arg794Ter)	ABCB1 (R794* +1 more)	Single nucleotide variant (nonsense)	ENCEPHALOPATHY, ACUTE TRANSIENT	GPathogenic
Select item 3315802	NM_001134405.2(RUNDC3B):c.265A>T (p.Ser89Cys)	ABCB1, RUNDC3B (S89C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3289163	NM_001348946.2(ABCB1):c.2756T>A (p.Met919Lys)	ABCB1 (M919K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289107	NM_001348946.2(ABCB1):c.1760A>G (p.His587Arg)	ABCB1 (H587R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289013	NM_001348946.2(ABCB1):c.328G>A (p.Asp110Asn)	ABCB1 (D110N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288812	NM_001348946.2(ABCB1):c.451T>C (p.Phe151Leu)	ABCB1 (F151L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288744	NM_001348946.2(ABCB1):c.1483G>A (p.Val495Ile)	ABCB1 (V495I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288687	NM_001348946.2(ABCB1):c.3477G>T (p.Glu1159Asp)	ABCB1 (E1159D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288515	NM_001348946.2(ABCB1):c.3836G>A (p.Arg1279His)	ABCB1 (R1279H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157194	NM_001134405.2(RUNDC3B):c.239-6464A>T	ABCB1, RUNDC3B (Q96H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118780	NM_001348946.2(ABCB1):c.629G>A (p.Arg210His)	ABCB1 (R210H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118728	NM_001348946.2(ABCB1):c.3835C>A (p.Arg1279Ser)	ABCB1 (R1279S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118709	NM_001348946.2(ABCB1):c.3826G>A (p.Gly1276Arg)	ABCB1 (G1276R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118662	NM_001348946.2(ABCB1):c.3697C>T (p.Arg1233Cys)	ABCB1 (R1233C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118623	NM_001348946.2(ABCB1):c.3673C>T (p.Arg1225Cys)	ABCB1 (R1225C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118561	NM_001348946.2(ABCB1):c.3385G>A (p.Glu1129Lys)	ABCB1 (E1129K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118387	NM_001348946.2(ABCB1):c.278C>T (p.Thr93Ile)	ABCB1 (T163I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118361	NM_001348946.2(ABCB1):c.2443A>G (p.Thr815Ala)	ABCB1 (T815A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118341	NM_001348946.2(ABCB1):c.230A>T (p.Asp77Val)	ABCB1 (D77V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118273	NM_001348946.2(ABCB1):c.2257A>G (p.Asn753Asp)	ABCB1 (N823D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118108	NM_001348946.2(ABCB1):c.1922C>G (p.Ala641Gly)	ABCB1 (A641G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118013	NM_001348946.2(ABCB1):c.1621A>G (p.Ile541Val)	ABCB1 (I541V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117996	NM_001348946.2(ABCB1):c.1589A>G (p.Gln530Arg)	ABCB1 (Q530R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059856	NM_001348946.2(ABCB1):c.-43A>G	ABCB1	Single nucleotide variant (5 prime UTR variant +1 more)	ABCB1-related disorder	GBenign
Select item 3057401	NM_001348946.2(ABCB1):c.338+5T>C	ABCB1	Single nucleotide variant (intron variant)	ABCB1-related disorder	GLikely benign
Select item 3057234	NM_001348946.2(ABCB1):c.2786+9C>T	ABCB1	Single nucleotide variant (intron variant)	ABCB1-related disorder	GLikely benign
Select item 3053022	NM_001348946.2(ABCB1):c.3768G>A (p.Thr1256=)	ABCB1	Single nucleotide variant (synonymous variant)	ABCB1-related disorder	GLikely benign
Select item 3048808	NM_001348946.2(ABCB1):c.702+9A>T	ABCB1	Single nucleotide variant (intron variant)	ABCB1-related disorder	GLikely benign
Select item 3048470	NM_001348946.2(ABCB1):c.1887+4T>G	ABCB1	Single nucleotide variant (intron variant)	ABCB1-related disorder	GLikely benign
Select item 3045734	NM_001348946.2(ABCB1):c.2397+8T>A	ABCB1	Single nucleotide variant (intron variant)	ABCB1-related disorder	GLikely benign
Select item 3043940	NM_001348945.2(ABCB1):c.117G>A (p.Pro39=)	ABCB1	Single nucleotide variant (5 prime UTR variant +1 more)	ABCB1-related disorder	GLikely benign
Select item 3040400	NM_001348946.2(ABCB1):c.612T>C (p.Phe204=)	ABCB1	Single nucleotide variant (synonymous variant)	ABCB1-related disorder	GLikely benign
Select item 3039097	NM_001348946.2(ABCB1):c.1984C>T (p.Leu662=)	ABCB1	Single nucleotide variant (synonymous variant)	ABCB1-related disorder	GLikely benign
Select item 3038471	NM_001348946.2(ABCB1):c.3421T>A (p.Ser1141Thr)	ABCB1 (S1141T +1 more)	Single nucleotide variant (missense variant)	ABCB1-related disorder	GLikely benign
Select item 2657658	NM_001348946.2(ABCB1):c.1225-34T>C	ABCB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2613390	NM_001348946.2(ABCB1):c.1976G>A (p.Arg659Lys)	ABCB1 (R729K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610803	NM_001348946.2(ABCB1):c.2191A>G (p.Ile731Val)	ABCB1 (I731V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557052	NM_001134405.2(RUNDC3B):c.378A>T (p.Arg126Ser)	ABCB1, RUNDC3B (R126S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544625	NM_001348946.2(ABCB1):c.2006G>A (p.Arg669His)	ABCB1 (R669H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536395	NM_001348946.2(ABCB1):c.1799G>A (p.Gly600Asp)	ABCB1 (G600D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524291	NM_001348946.2(ABCB1):c.1771A>G (p.Thr591Ala)	ABCB1 (T591A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487482	NM_001134405.2(RUNDC3B):c.218T>G (p.Ile73Ser)	ABCB1, RUNDC3B (I73S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2485245	NM_001348946.2(ABCB1):c.3665G>C (p.Arg1222Thr)	ABCB1 (R1292T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480928	NM_001134405.2(RUNDC3B):c.271C>T (p.Arg91Cys)	ABCB1, RUNDC3B (R108C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2474434	NM_001348946.2(ABCB1):c.797C>T (p.Ala266Val)	ABCB1 (A266V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399124	NM_001134405.2(RUNDC3B):c.43G>A (p.Gly15Ser)	ABCB1, RUNDC3B (G15S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2358503	NM_001348946.2(ABCB1):c.3769C>T (p.His1257Tyr)	ABCB1 (H1257Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355633	NM_001348946.2(ABCB1):c.56T>A (p.Leu19Gln)	ABCB1, LOC126860097 (L89Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351184	NM_001348946.2(ABCB1):c.3247C>G (p.Leu1083Val)	ABCB1 (L1153V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336322	NM_001134405.2(RUNDC3B):c.329G>A (p.Cys110Tyr)	ABCB1, RUNDC3B (C127Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2325116	NM_001134405.2(RUNDC3B):c.38G>C (p.Arg13Pro)	ABCB1, RUNDC3B (R13P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2318947	NM_001348946.2(ABCB1):c.2210G>A (p.Gly737Glu)	ABCB1 (G737E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314483	NM_001348946.2(ABCB1):c.3066C>A (p.Ser1022Arg)	ABCB1 (S1092R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313825	NM_001348946.2(ABCB1):c.2270T>C (p.Leu757Pro)	ABCB1 (L757P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308222	NM_001134405.2(RUNDC3B):c.305G>A (p.Arg102Gln)	ABCB1, RUNDC3B (R102Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2283163	NM_001348946.2(ABCB1):c.2993A>C (p.Tyr998Ser)	ABCB1 (Y998S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268395	NM_001348946.2(ABCB1):c.1959G>T (p.Met653Ile)	ABCB1 (M653I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245358	NM_001134405.2(RUNDC3B):c.40G>A (p.Gly14Ser)	ABCB1, RUNDC3B (G14S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2235411	NM_001134405.2(RUNDC3B):c.455C>A (p.Thr152Asn)	ABCB1, RUNDC3B (T38N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527369	GRCh37/hg19 7q21.11-21.3(chr7:77821356-93340137)	ABCB1, ABCB4 +50 more	Copy number gain	not specified	GPathogenic
Select item 1164001	NM_001348946.2(ABCB1):c.2678C>A (p.Ser893Tyr)	ABCB1 (S893Y +1 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy	GLikely pathogenic
Select item 1049700	NM_001348946.2(ABCB1):c.3044C>A (p.Thr1015Asn)	ABCB1 (T1015N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1033150	NM_001348946.2(ABCB1):c.480A>G (p.Ile160Met)	ABCB1 (I160M +1 more)	Single nucleotide variant (missense variant)	Inflammatory bowel disease 13	GUncertain significance
Select item 1032492	NM_001348946.2(ABCB1):c.470G>A (p.Arg157Gln)	ABCB1 (R157Q +1 more)	Single nucleotide variant (missense variant)	Inflammatory bowel disease 13	GUncertain significance
Select item 981871	NM_001348946.2(ABCB1):c.3412C>T (p.Arg1138Trp)	ABCB1 (R1138W +1 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 979630	GRCh37/hg19 7q21.12(chr7:86833114-87553208)x3	ABCB4, RUNDC3B +5 more	Copy number gain	not provided	GUncertain significance
Select item 979629	GRCh37/hg19 7q21.12(chr7:86907024-87154688)x1	ABCB1, CROT +1 more	Copy number loss	not provided	GLikely pathogenic
Select item 829606	NM_001348946.2(ABCB1):c.*424C>T	ABCB1	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829605	NM_001348946.2(ABCB1):c.*421T>C	ABCB1	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829604	NM_001348946.2(ABCB1):c.*420C>G	ABCB1	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829603	NM_001348946.2(ABCB1):c.*394G>A	ABCB1	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829602	NM_001348946.2(ABCB1):c.*379G>A	ABCB1	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829601	NM_001348946.2(ABCB1):c.*363A>C	ABCB1	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829600	NM_001348946.2(ABCB1):c.*298C>T	ABCB1	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829599	NM_001348946.2(ABCB1):c.*272T>C	ABCB1	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829598	NM_001348946.2(ABCB1):c.*267T>C	ABCB1	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829597	NM_001348946.2(ABCB1):c.*223C>T	ABCB1	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829596	NM_001348946.2(ABCB1):c.*193A>G	ABCB1	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829595	NM_001348946.2(ABCB1):c.*189A>C	ABCB1	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829594	NM_001348946.2(ABCB1):c.*13T>C	ABCB1	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829593	NM_001348946.2(ABCB1):c.3837C>T (p.Arg1279=)	ABCB1	Single nucleotide variant (synonymous variant)	Tramadol response	Gdrug response
Select item 829592	NM_001348946.2(ABCB1):c.3801T>A (p.Tyr1267Ter)	ABCB1 (Y1337* +1 more)	Single nucleotide variant (nonsense)	Tramadol response	Gdrug response
Select item 829591	NM_001348946.2(ABCB1):c.3800A>C (p.Tyr1267Ser)	ABCB1 (Y1267S +1 more)	Single nucleotide variant (missense variant)	Tramadol response	Gdrug response
Select item 829590	NM_001348946.2(ABCB1):c.3799T>G (p.Tyr1267Asp)	ABCB1 (Y1337D +1 more)	Single nucleotide variant (missense variant)	Tramadol response	Gdrug response
Select item 829589	NM_001348946.2(ABCB1):c.3758A>G (p.Glu1253Gly)	ABCB1 (E1253G +1 more)	Single nucleotide variant (missense variant)	Tramadol response	Gdrug response
Select item 829588	NM_001348946.2(ABCB1):c.3749G>A (p.Arg1250Lys)	ABCB1 (R1250K +1 more)	Single nucleotide variant (missense variant)	Tramadol response	Gdrug response
Select item 829587	NM_001348946.2(ABCB1):c.3746G>A (p.Gly1249Asp)	ABCB1 (G1319D +1 more)	Single nucleotide variant (missense variant)	Tramadol response	Gdrug response
Select item 829586	NM_001348946.2(ABCB1):c.3691G>A (p.Ala1231Thr)	ABCB1 (A1301T +1 more)	Single nucleotide variant (missense variant)	Tramadol response	Gdrug response
Select item 829585	NM_001348946.2(ABCB1):c.3688A>G (p.Ile1230Val)	ABCB1 (I1300V +1 more)	Single nucleotide variant (missense variant)	Tramadol response	Gdrug response
Select item 829584	NM_001348946.2(ABCB1):c.3679T>A (p.Cys1227Ser)	ABCB1 (C1297S +1 more)	Single nucleotide variant (missense variant)	Tramadol response	Gdrug response
Select item 829583	NM_001348946.2(ABCB1):c.3649G>A (p.Ala1217Thr)	ABCB1 (A1217T +1 more)	Single nucleotide variant (missense variant)	Tramadol response	Gdrug response
Select item 829582	NM_001348946.2(ABCB1):c.3643C>A (p.Gln1215Lys)	ABCB1 (Q1285K +1 more)	Single nucleotide variant (missense variant)	Tramadol response	Gdrug response
Select item 829581	NM_001348946.2(ABCB1):c.3641T>G (p.Val1214Gly)	ABCB1 (V1284G +1 more)	Single nucleotide variant (missense variant)	Tramadol response	Gdrug response
Select item 829580	NM_001348946.2(ABCB1):c.3637-11T>G	ABCB1	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response

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