"Ambry Genetics"[submitter] AND "UBAC2"[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3330502	NM_001144072.2(UBAC2):c.14C>G (p.Thr5Ser)	UBAC2 (T5S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3185428	NM_001144072.2(UBAC2):c.74C>T (p.Ala25Val)	UBAC2 (A25V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330501	NM_001144072.2(UBAC2):c.90C>T (p.Leu30=)	UBAC2 (S72L)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 2603391	NM_001144072.2(UBAC2):c.91G>A (p.Ala31Thr)	UBAC2 (A31T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3185423	NM_001144072.2(UBAC2):c.123T>C (p.Phe41=)	UBAC2 (L83S)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3185425	NM_001144072.2(UBAC2):c.134T>C (p.Leu45Pro)	UBAC2 (L45P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388807	NM_001144072.2(UBAC2):c.174A>G (p.Ile58Met)	UBAC2 (I58M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2517517	NM_001144072.2(UBAC2):c.332T>C (p.Ile111Thr)	UBAC2 (I111T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2541785	NM_001098200.2(GPR18):c.988A>C (p.Met330Leu)	GPR18, UBAC2 (M330L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599361	NM_001098200.2(GPR18):c.947G>T (p.Arg316Leu)	GPR18, UBAC2 (R316L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331066	NM_001098200.2(GPR18):c.932G>T (p.Arg311Leu)	GPR18, UBAC2 (R311L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101639	NM_001098200.2(GPR18):c.903G>A (p.Met301Ile)	GPR18, UBAC2 (M301I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101638	NM_001098200.2(GPR18):c.887G>A (p.Arg296Gln)	GPR18, UBAC2 (R296Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101637	NM_001098200.2(GPR18):c.839G>C (p.Cys280Ser)	GPR18, UBAC2 (C280S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253842	NM_001098200.2(GPR18):c.794A>T (p.Asn265Ile)	GPR18, UBAC2 (N265I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282337	NM_001098200.2(GPR18):c.776C>T (p.Thr259Met)	GPR18, UBAC2 (T259M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101636	NM_001098200.2(GPR18):c.691A>C (p.Ile231Leu)	GPR18, UBAC2 (I231L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207441	NM_001098200.2(GPR18):c.656C>T (p.Thr219Met)	GPR18, UBAC2 (T219M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466699	NM_001098200.2(GPR18):c.649G>A (p.Gly217Ser)	GPR18, UBAC2 (G217S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297274	NM_001098200.2(GPR18):c.628A>G (p.Ile210Val)	GPR18, UBAC2 (I210V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237880	NM_001098200.2(GPR18):c.443T>C (p.Met148Thr)	GPR18, UBAC2 (M148T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101635	NM_001098200.2(GPR18):c.427G>A (p.Val143Met)	GPR18, UBAC2 (V143M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323021	NM_001098200.2(GPR18):c.421G>C (p.Ala141Pro)	GPR18, UBAC2 (A141P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101634	NM_001098200.2(GPR18):c.331C>T (p.Leu111Phe)	GPR18, UBAC2 (L111F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262560	NM_001098200.2(GPR18):c.218T>C (p.Met73Thr)	GPR18, UBAC2 (M73T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262559	NM_001098200.2(GPR18):c.216A>G (p.Ile72Met)	GPR18, UBAC2 (I72M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325282	NM_001098200.2(GPR18):c.161G>T (p.Arg54Ile)	GPR18, UBAC2 (R54I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603163	NM_001098200.2(GPR18):c.104T>C (p.Ile35Thr)	GPR18, UBAC2 (I35T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549505	NM_001098200.2(GPR18):c.77T>C (p.Leu26Pro)	GPR18, UBAC2 (L26P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315861	NM_004951.5(GPR183):c.1073C>T (p.Ser358Leu)	GPR183, UBAC2 (S358L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3101647	NM_004951.5(GPR183):c.1045A>G (p.Thr349Ala)	GPR183, UBAC2 (T349A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612700	NM_004951.5(GPR183):c.1031G>A (p.Arg344His)	GPR183, UBAC2 (R344H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608277	NM_004951.5(GPR183):c.929T>C (p.Phe310Ser)	GPR183, UBAC2 (F310S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101654	NM_004951.5(GPR183):c.801T>A (p.His267Gln)	GPR183, UBAC2 (H267Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364050	NM_004951.5(GPR183):c.751G>A (p.Val251Ile)	GPR183, UBAC2 (V251I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101653	NM_004951.5(GPR183):c.566A>T (p.Glu189Val)	GPR183, UBAC2 (E189V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282345	NM_004951.5(GPR183):c.490C>T (p.Leu164Phe)	GPR183, UBAC2 (L164F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597489	NM_004951.5(GPR183):c.413G>A (p.Arg138His)	GPR183, UBAC2 (R138H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101652	NM_004951.5(GPR183):c.295A>T (p.Ile99Phe)	GPR183, UBAC2 (I99F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101650	NM_004951.5(GPR183):c.269A>T (p.Tyr90Phe)	GPR183, UBAC2 (Y90F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101649	NM_004951.5(GPR183):c.202C>T (p.Leu68Phe)	GPR183, UBAC2 (L68F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101648	NM_004951.5(GPR183):c.139G>A (p.Val47Met)	GPR183, UBAC2 (V47M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476417	NM_004951.5(GPR183):c.121G>A (p.Val41Ile)	GPR183, UBAC2 (V41I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334597	NM_004951.5(GPR183):c.101T>C (p.Met34Thr)	GPR183, UBAC2 (M34T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345206	NM_004951.5(GPR183):c.86C>T (p.Thr29Met)	GPR183, UBAC2 (T29M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618511	NM_004951.5(GPR183):c.52G>A (p.Gly18Arg)	GPR183, UBAC2 (G18R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406370	NM_004951.5(GPR183):c.16G>A (p.Ala6Thr)	GPR183, UBAC2 (A6T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520039	NM_001144072.2(UBAC2):c.467C>T (p.Pro156Leu)	LOC126861826, UBAC2 (P121L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330504	NM_001144072.2(UBAC2):c.520A>G (p.Thr174Ala)	UBAC2 (T139A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185426	NM_001144072.2(UBAC2):c.630G>A (p.Met210Ile)	UBAC2 (M175I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185427	NM_001144072.2(UBAC2):c.639C>A (p.Phe213Leu)	UBAC2 (F178L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318614	NM_001144072.2(UBAC2):c.716T>C (p.Leu239Pro)	UBAC2 (L239P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299822	NM_001144072.2(UBAC2):c.877G>A (p.Gly293Ser)	UBAC2 (G258S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320763	NM_001144072.2(UBAC2):c.881G>A (p.Arg294Gln)	UBAC2 (R294Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330503	NM_001144072.2(UBAC2):c.934C>T (p.Arg312Trp)	UBAC2 (R277W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321416	NM_001144072.2(UBAC2):c.995A>G (p.Asn332Ser)	UBAC2 (N297S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224529	NM_001144072.2(UBAC2):c.1009G>A (p.Ala337Thr)	UBAC2 (A337T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185422	NM_001144072.2(UBAC2):c.1016A>G (p.Asn339Ser)	UBAC2 (N339S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 58