"Ambry Genetics"[submitter] AND "UGGT1"[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2532811	NM_020120.4(UGGT1):c.310G>A (p.Glu104Lys)	UGGT1 (E104K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2336195	NM_020120.4(UGGT1):c.430C>G (p.Pro144Ala)	UGGT1 (P144A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2293507	NM_020120.4(UGGT1):c.472A>G (p.Thr158Ala)	UGGT1 (T158A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2610693	NM_020120.4(UGGT1):c.523C>T (p.Pro175Ser)	UGGT1 (P175S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2406645	NM_020120.4(UGGT1):c.541A>G (p.Lys181Glu)	UGGT1 (K181E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2592173	NM_020120.4(UGGT1):c.712C>G (p.Pro238Ala)	UGGT1 (P238A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2561455	NM_020120.4(UGGT1):c.715G>A (p.Val239Ile)	UGGT1 (V239I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2237986	NM_020120.4(UGGT1):c.748A>G (p.Ile250Val)	UGGT1 (I250V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2398363	NM_020120.4(UGGT1):c.878T>C (p.Leu293Pro)	UGGT1 (L293P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2592085	NM_020120.4(UGGT1):c.1148C>T (p.Thr383Ile)	UGGT1 (T383I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2455214	NM_020120.4(UGGT1):c.1190G>C (p.Gly397Ala)	UGGT1 (G397A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2398362	NM_020120.4(UGGT1):c.1228C>G (p.Leu410Val)	UGGT1 (L410V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2556028	NM_020120.4(UGGT1):c.1297T>C (p.Ser433Pro)	UGGT1 (S433P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2276705	NM_020120.4(UGGT1):c.1357A>G (p.Ile453Val)	UGGT1 (I453V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2616564	NM_020120.4(UGGT1):c.1364G>A (p.Ser455Asn)	UGGT1 (S455N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2392224	NM_020120.4(UGGT1):c.1382T>C (p.Val461Ala)	UGGT1 (V461A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2229879	NM_020120.4(UGGT1):c.1412A>C (p.Asn471Thr)	UGGT1 (N471T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2623673	NM_020120.4(UGGT1):c.1426A>G (p.Ser476Gly)	UGGT1 (S476G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2362282	NM_020120.4(UGGT1):c.1560C>G (p.Phe520Leu)	UGGT1 (F520L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2207248	NM_020120.4(UGGT1):c.1746A>C (p.Glu582Asp)	UGGT1 (E582D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2341952	NM_020120.4(UGGT1):c.1840C>T (p.Arg614Trp)	UGGT1 (R614W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2588128	NM_020120.4(UGGT1):c.1847G>A (p.Arg616Gln)	UGGT1 (R616Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2394783	NM_020120.4(UGGT1):c.1885G>A (p.Gly629Arg)	UGGT1 (G629R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2512037	NM_020120.4(UGGT1):c.2066C>T (p.Pro689Leu)	UGGT1 (P689L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2538716	NM_020120.4(UGGT1):c.2095A>G (p.Ile699Val)	UGGT1 (I699V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2387297	NM_020120.4(UGGT1):c.2207C>T (p.Ala736Val)	UGGT1 (A736V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2474689	NM_020120.4(UGGT1):c.2249A>G (p.Lys750Arg)	UGGT1 (K750R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2614506	NM_020120.4(UGGT1):c.2414A>G (p.Tyr805Cys)	UGGT1 (Y805C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2390597	NM_020120.4(UGGT1):c.2457A>C (p.Gln819His)	UGGT1 (Q819H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2268592	NM_020120.4(UGGT1):c.2561G>C (p.Gly854Ala)	UGGT1 (G854A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2361743	NM_020120.4(UGGT1):c.2647G>A (p.Val883Ile)	UGGT1 (V883I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2361078	NM_020120.4(UGGT1):c.2671A>T (p.Arg891Trp)	UGGT1 (R891W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2337269	NM_020120.4(UGGT1):c.2725T>C (p.Phe909Leu)	UGGT1 (F909L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2549808	NM_020120.4(UGGT1):c.2734G>A (p.Asp912Asn)	UGGT1 (D912N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2558241	NM_020120.4(UGGT1):c.2906T>C (p.Phe969Ser)	UGGT1 (F969S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2324622	NM_020120.4(UGGT1):c.3010G>C (p.Ala1004Pro)	UGGT1 (A1004P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2319506	NM_020120.4(UGGT1):c.3056G>A (p.Arg1019Lys)	UGGT1 (R1019K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2283968	NM_020120.4(UGGT1):c.3086C>G (p.Ser1029Cys)	UGGT1 (S1029C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2281432	NM_020120.4(UGGT1):c.3364A>T (p.Thr1122Ser)	UGGT1 (T1122S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2215422	NM_020120.4(UGGT1):c.3377C>T (p.Pro1126Leu)	UGGT1 (P1126L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2612377	NM_020120.4(UGGT1):c.3419C>T (p.Pro1140Leu)	UGGT1 (P1140L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2490738	NM_020120.4(UGGT1):c.3560C>T (p.Pro1187Leu)	UGGT1 (P1187L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2287030	NM_020120.4(UGGT1):c.3600C>G (p.Phe1200Leu)	UGGT1 (F1200L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2302350	NM_020120.4(UGGT1):c.3781G>T (p.Val1261Phe)	UGGT1 (V1261F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2507558	NM_020120.4(UGGT1):c.4121A>G (p.Asn1374Ser)	UGGT1 (N1374S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2278998	NM_020120.4(UGGT1):c.4147A>G (p.Thr1383Ala)	UGGT1 (T1383A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2523455	NM_020120.4(UGGT1):c.4225G>A (p.Gly1409Arg)	UGGT1 (G1409R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 47