"Ambry Genetics"[submitter] AND "ABTB1"[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2343322	NM_172027.3(ABTB1):c.98A>T (p.Asp33Val)	ABTB1 (D33V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2358217	NM_172027.3(ABTB1):c.113C>T (p.Thr38Ile)	ABTB1 (T38I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2468300	NM_172027.3(ABTB1):c.150G>T (p.Glu50Asp)	ABTB1 (E50D)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2390457	NM_172027.3(ABTB1):c.157C>T (p.Leu53Phe)	ABTB1 (L53F)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2279750	NM_172027.3(ABTB1):c.163C>T (p.Leu55Phe)	ABTB1 (L55F)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2385192	NM_172027.3(ABTB1):c.233G>A (p.Ser78Asn)	ABTB1 (S78N)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2611478	NM_172027.3(ABTB1):c.243C>G (p.Ile81Met)	ABTB1 (I81M)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2468569	NM_172027.3(ABTB1):c.248G>A (p.Arg83Gln)	ABTB1 (R83Q)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2211740	NM_172027.3(ABTB1):c.257G>A (p.Arg86His)	ABTB1 (R86H)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2610619	NM_172027.3(ABTB1):c.335G>A (p.Gly112Asp)	ABTB1 (G112D)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2226681	NM_172027.3(ABTB1):c.341A>G (p.His114Arg)	ABTB1 (H114R)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2320156	NM_172027.3(ABTB1):c.388C>T (p.Arg130Cys)	ABTB1 (R130C)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2522603	NM_172027.3(ABTB1):c.469A>G (p.Arg157Gly)	ABTB1 (R15G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2620313	NM_172027.3(ABTB1):c.487C>G (p.Pro163Ala)	ABTB1 (P21A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2281753	NM_172027.3(ABTB1):c.502G>T (p.Ala168Ser)	ABTB1 (A168S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2621674	NM_172027.3(ABTB1):c.544G>A (p.Val182Ile)	ABTB1 (V182I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2217259	NM_172027.3(ABTB1):c.581A>G (p.Gln194Arg)	ABTB1 (Q52R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2289037	NM_172027.3(ABTB1):c.613G>A (p.Glu205Lys)	ABTB1 (E63K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2352561	NM_172027.3(ABTB1):c.885C>G (p.Asp295Glu)	ABTB1 (D295E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2286271	NM_172027.3(ABTB1):c.889T>C (p.Phe297Leu)	ABTB1 (F297L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2601281	NM_172027.3(ABTB1):c.926A>G (p.Glu309Gly)	ABTB1 (E309G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2529073	NM_172027.3(ABTB1):c.943G>A (p.Gly315Arg)	ABTB1 (G315R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2316477	NM_172027.3(ABTB1):c.979C>G (p.Pro327Ala)	ABTB1 (P185A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2387783	NM_172027.3(ABTB1):c.982G>A (p.Asp328Asn)	ABTB1 (D328N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2383735	NM_172027.3(ABTB1):c.985G>A (p.Val329Ile)	ABTB1 (V329I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2261364	NM_172027.3(ABTB1):c.1034C>G (p.Ser345Cys)	ABTB1 (S345C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2363046	NM_172027.3(ABTB1):c.1063G>A (p.Val355Ile)	ABTB1 (V213I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2215862	NM_172027.3(ABTB1):c.1066G>A (p.Ala356Thr)	ABTB1 (A214T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2465057	NM_172027.3(ABTB1):c.1121A>G (p.Gln374Arg)	ABTB1 (Q374R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2220237	NM_172027.3(ABTB1):c.1252G>A (p.Val418Met)	ABTB1 (V276M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2476182	NM_172027.3(ABTB1):c.1294C>G (p.Gln432Glu)	ABTB1 (Q290E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2311371	NM_172027.3(ABTB1):c.1331G>A (p.Arg444His)	ABTB1 (R444H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2329897	NM_172027.3(ABTB1):c.1372G>A (p.Glu458Lys)	ABTB1 (E316K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2351904	NM_172027.3(ABTB1):c.1388G>A (p.Arg463His)	ABTB1 (R321H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 34