Related gene-specific medical variations for Gene (Select 5243) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3340128	ABCB1, GLN1182TER	ABCB1	Variation	ENCEPHALOPATHY, ACUTE TRANSIENT	GPathogenic
Select item 3340126	NM_000927.4:c.3053-3056del	ABCB1	Deletion	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 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 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 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 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 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 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 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 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 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 829335	NM_001348946.2(ABCB1):c.68+102A>T	ABCB1, LOC126860097	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829334	NM_001348946.2(ABCB1):c.68+38G>A	ABCB1, LOC126860097	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829333	NM_001348946.2(ABCB1):c.68+37T>A	ABCB1, LOC126860097	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829332	NM_001348946.2(ABCB1):c.68+29T>G	ABCB1, LOC126860097	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829331	NM_001348946.2(ABCB1):c.68+28T>C	ABCB1, LOC126860097	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829330	NM_001348946.2(ABCB1):c.68+25A>G	ABCB1, LOC126860097	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829329	NM_001348946.2(ABCB1):c.68+18T>G	ABCB1, LOC126860097	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829328	NM_001348946.2(ABCB1):c.68+1G>A	ABCB1, LOC126860097	Single nucleotide variant (splice donor variant)	Tramadol response	Gdrug response
Select item 829327	NM_001348946.2(ABCB1):c.61A>G (p.Asn21Asp)	ABCB1, LOC126860097 (N21D +1 more)	Single nucleotide variant (missense variant)	ABCB1-related disorder +1 more	GLikely benign; drug response
Select item 829326	NM_001348946.2(ABCB1):c.-1A>G	ABCB1, LOC126860097	Single nucleotide variant (5 prime UTR variant +1 more)	Tramadol response	Gdrug response
Select item 829304	NM_000927.5(ABCB1):c.-331+51T>A	RUNDC3B, ABCB1	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829303	NM_000927.5(ABCB1):c.-361G>C	ABCB1, RUNDC3B	Single nucleotide variant (5 prime UTR variant +1 more)	Tramadol response	Gdrug response
Select item 829302	NM_000927.5(ABCB1):c.-364G>A	ABCB1, RUNDC3B	Single nucleotide variant (5 prime UTR variant +1 more)	Tramadol response	Gdrug response
Select item 829301	NM_000927.5(ABCB1):c.-372T>G	ABCB1, RUNDC3B	Single nucleotide variant (5 prime UTR variant +1 more)	Tramadol response	Gdrug response
Select item 829300	NM_000927.5(ABCB1):c.-388T>G	ABCB1, RUNDC3B	Single nucleotide variant (5 prime UTR variant +1 more)	Tramadol response	Gdrug response
Select item 829299	NM_000927.5(ABCB1):c.-428A>G	RUNDC3B, ABCB1	Single nucleotide variant (5 prime UTR variant +1 more)	Tramadol response	Gdrug response
Select item 829298	NM_000927.5(ABCB1):c.-458C>T	ABCB1, RUNDC3B	Single nucleotide variant (5 prime UTR variant +1 more)	Tramadol response	Gdrug response
Select item 828539	NM_001348946.2(ABCB1):c.68+434A>G	ABCB1, LOC126860097	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 828538	NM_001348946.2(ABCB1):c.68+432A>C	LOC126860097, ABCB1	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 828537	NM_001348946.2(ABCB1):c.68+431A>T	ABCB1, LOC126860097	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 828536	NM_001348946.2(ABCB1):c.68+429C>T	ABCB1, LOC126860097	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 828535	NM_001348946.2(ABCB1):c.68+428T>A	ABCB1, LOC126860097	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 828534	NM_001348946.2(ABCB1):c.68+427A>C	ABCB1, LOC126860097	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 828533	NM_001348946.2(ABCB1):c.68+417C>A	ABCB1, LOC126860097	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 828532	NM_001348946.2(ABCB1):c.68+408G>A	ABCB1, LOC126860097	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 828531	NM_001348946.2(ABCB1):c.68+407T>A	ABCB1, LOC126860097	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 828530	NM_001348946.2(ABCB1):c.68+299C>A	ABCB1, LOC126860097	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 828503	NM_000927.5(ABCB1):c.-331+84A>C	ABCB1, RUNDC3B	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 828502	NM_000927.5(ABCB1):c.-331+81G>A	ABCB1, RUNDC3B	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 828501	NM_000927.5(ABCB1):c.-331+80T>G	ABCB1, RUNDC3B	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 828500	NM_000927.5(ABCB1):c.-331+79T>A	RUNDC3B, ABCB1	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 828499	NM_000927.5(ABCB1):c.-331+78T>A	ABCB1, RUNDC3B	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 828498	NM_000927.5(ABCB1):c.-331+67T>G	ABCB1, RUNDC3B	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response

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Links from Gene

Items: 47