UGGT1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153085	GRCh38/hg38 2q14.1-14.3(chr2:115302067-129071130)x1	AMMECR1L, BIN1 +254 more	Copy number loss	See cases	GPathogenic
Select item 60184	GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1	ACMSD, AMER3 +391 more	Copy number loss	See cases	GPathogenic
Select item 60185	GRCh38/hg38 2q14.3(chr2:121824798-128870804)x1	AMMECR1L, BIN1 +121 more	Copy number loss	See cases	GPathogenic
Select item 60186	GRCh38/hg38 2q14.3(chr2:122324343-128371704)x1	LOC115945190, LOC120961783 +101 more	Copy number loss	See cases	GPathogenic
Select item 148393	GRCh38/hg38 2q14.3-21.1(chr2:122847356-129545581)x1	AMMECR1L, BIN1 +116 more	Copy number loss	See cases	GLikely pathogenic
Select item 146132	GRCh38/hg38 2q14.3(chr2:123169989-128460075)x1	AMMECR1L, BIN1 +100 more	Copy number loss	See cases	GPathogenic
Select item 147544	GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1	ACMSD, AMER3 +336 more	Copy number loss	See cases	GPathogenic
Select item 1180433	NC_000002.12:g.124348648_129410245del	LOC129934710, LOC129934711 +112 more	Deletion	See cases	Gnot provided
Select item 149324	GRCh38/hg38 2q14.3-21.1(chr2:127063206-130527454)x3	AMMECR1L, BIN1 +125 more	Copy number gain	See cases	GUncertain significance
Select item 146247	GRCh38/hg38 2q14.3(chr2:127961465-128631641)x3	HS6ST1, LOC112806046 +26 more	Copy number gain	See cases	GLikely benign
Select item 3186051	NM_020120.4(UGGT1):c.26G>T (p.Gly9Val)	UGGT1 (G9V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2651345	NM_020120.4(UGGT1):c.276C>T (p.Asp92=)	UGGT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 713049	NM_020120.4(UGGT1):c.278-9C>T	UGGT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2532811	NM_020120.4(UGGT1):c.310G>A (p.Glu104Lys)	UGGT1 (E104K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336195	NM_020120.4(UGGT1):c.430C>G (p.Pro144Ala)	UGGT1 (P144A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293507	NM_020120.4(UGGT1):c.472A>G (p.Thr158Ala)	UGGT1 (T158A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610693	NM_020120.4(UGGT1):c.523C>T (p.Pro175Ser)	UGGT1 (P175S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406645	NM_020120.4(UGGT1):c.541A>G (p.Lys181Glu)	UGGT1 (K181E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 778001	NM_020120.4(UGGT1):c.648A>G (p.Ser216=)	UGGT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2592173	NM_020120.4(UGGT1):c.712C>G (p.Pro238Ala)	UGGT1 (P238A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2561455	NM_020120.4(UGGT1):c.715G>A (p.Val239Ile)	UGGT1 (V239I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237986	NM_020120.4(UGGT1):c.748A>G (p.Ile250Val)	UGGT1 (I250V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398363	NM_020120.4(UGGT1):c.878T>C (p.Leu293Pro)	UGGT1 (L293P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186060	NM_020120.4(UGGT1):c.967T>A (p.Leu323Met)	UGGT1 (L323M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186040	NM_020120.4(UGGT1):c.1012C>T (p.Pro338Ser)	UGGT1 (P338S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592085	NM_020120.4(UGGT1):c.1148C>T (p.Thr383Ile)	UGGT1 (T383I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455214	NM_020120.4(UGGT1):c.1190G>C (p.Gly397Ala)	UGGT1 (G397A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398362	NM_020120.4(UGGT1):c.1228C>G (p.Leu410Val)	UGGT1 (L410V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 731584	NM_020120.4(UGGT1):c.1266G>A (p.Glu422=)	UGGT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2556028	NM_020120.4(UGGT1):c.1297T>C (p.Ser433Pro)	UGGT1 (S433P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276705	NM_020120.4(UGGT1):c.1357A>G (p.Ile453Val)	UGGT1 (I453V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616564	NM_020120.4(UGGT1):c.1364G>A (p.Ser455Asn)	UGGT1 (S455N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392224	NM_020120.4(UGGT1):c.1382T>C (p.Val461Ala)	UGGT1 (V461A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229879	NM_020120.4(UGGT1):c.1412A>C (p.Asn471Thr)	UGGT1 (N471T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623673	NM_020120.4(UGGT1):c.1426A>G (p.Ser476Gly)	UGGT1 (S476G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186041	NM_020120.4(UGGT1):c.1495A>G (p.Met499Val)	UGGT1 (M499V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362282	NM_020120.4(UGGT1):c.1560C>G (p.Phe520Leu)	UGGT1 (F520L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186042	NM_020120.4(UGGT1):c.1603G>C (p.Val535Leu)	UGGT1 (V535L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186043	NM_020120.4(UGGT1):c.1718A>G (p.His573Arg)	UGGT1 (H573R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207248	NM_020120.4(UGGT1):c.1746A>C (p.Glu582Asp)	UGGT1 (E582D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186045	NM_020120.4(UGGT1):c.1835A>C (p.Tyr612Ser)	UGGT1 (Y612S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341952	NM_020120.4(UGGT1):c.1840C>T (p.Arg614Trp)	UGGT1 (R614W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588128	NM_020120.4(UGGT1):c.1847G>A (p.Arg616Gln)	UGGT1 (R616Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394783	NM_020120.4(UGGT1):c.1885G>A (p.Gly629Arg)	UGGT1 (G629R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 710243	NM_020120.4(UGGT1):c.2006C>T (p.Ala669Val)	UGGT1 (A669V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 719900	NM_020120.4(UGGT1):c.2017-4G>T	UGGT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2512037	NM_020120.4(UGGT1):c.2066C>T (p.Pro689Leu)	UGGT1 (P689L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186046	NM_020120.4(UGGT1):c.2068A>G (p.Asn690Asp)	UGGT1 (N690D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186047	NM_020120.4(UGGT1):c.2081G>C (p.Arg694Pro)	UGGT1 (R694P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538716	NM_020120.4(UGGT1):c.2095A>G (p.Ile699Val)	UGGT1 (I699V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387297	NM_020120.4(UGGT1):c.2207C>T (p.Ala736Val)	UGGT1 (A736V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474689	NM_020120.4(UGGT1):c.2249A>G (p.Lys750Arg)	UGGT1 (K750R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186048	NM_020120.4(UGGT1):c.2267C>G (p.Ser756Cys)	UGGT1 (S756C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330811	NM_020120.4(UGGT1):c.2290T>C (p.Trp764Arg)	UGGT1 (W764R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330813	NM_020120.4(UGGT1):c.2360C>T (p.Ser787Phe)	UGGT1 (S787F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330809	NM_020120.4(UGGT1):c.2389A>G (p.Asn797Asp)	UGGT1 (N797D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614506	NM_020120.4(UGGT1):c.2414A>G (p.Tyr805Cys)	UGGT1 (Y805C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390597	NM_020120.4(UGGT1):c.2457A>C (p.Gln819His)	UGGT1 (Q819H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330807	NM_020120.4(UGGT1):c.2492C>A (p.Thr831Asn)	UGGT1 (T831N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2651346	NM_020120.4(UGGT1):c.2545G>T (p.Ala849Ser)	UGGT1 (A849S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3186049	NM_020120.4(UGGT1):c.2546C>T (p.Ala849Val)	UGGT1 (A849V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268592	NM_020120.4(UGGT1):c.2561G>C (p.Gly854Ala)	UGGT1 (G854A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186050	NM_020120.4(UGGT1):c.2567T>C (p.Met856Thr)	UGGT1 (M856T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330810	NM_020120.4(UGGT1):c.2612A>G (p.Asp871Gly)	UGGT1 (D871G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361743	NM_020120.4(UGGT1):c.2647G>A (p.Val883Ile)	UGGT1 (V883I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361078	NM_020120.4(UGGT1):c.2671A>T (p.Arg891Trp)	UGGT1 (R891W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337269	NM_020120.4(UGGT1):c.2725T>C (p.Phe909Leu)	UGGT1 (F909L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549808	NM_020120.4(UGGT1):c.2734G>A (p.Asp912Asn)	UGGT1 (D912N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186052	NM_020120.4(UGGT1):c.2752G>A (p.Glu918Lys)	UGGT1 (E918K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558241	NM_020120.4(UGGT1):c.2906T>C (p.Phe969Ser)	UGGT1 (F969S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 731585	NM_020120.4(UGGT1):c.2946A>T (p.Glu982Asp)	UGGT1 (E982D)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2324622	NM_020120.4(UGGT1):c.3010G>C (p.Ala1004Pro)	UGGT1 (A1004P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 708636	NM_020120.4(UGGT1):c.3025-4C>T	UGGT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2319506	NM_020120.4(UGGT1):c.3056G>A (p.Arg1019Lys)	UGGT1 (R1019K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283968	NM_020120.4(UGGT1):c.3086C>G (p.Ser1029Cys)	UGGT1 (S1029C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186053	NM_020120.4(UGGT1):c.3141C>G (p.Phe1047Leu)	UGGT1 (F1047L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330814	NM_020120.4(UGGT1):c.3227C>T (p.Thr1076Ile)	UGGT1 (T1076I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186054	NM_020120.4(UGGT1):c.3251C>T (p.Ser1084Phe)	UGGT1 (S1084F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 871531	NM_020120.4(UGGT1):c.3307G>A (p.Val1103Met)	UGGT1 (V1103M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2281432	NM_020120.4(UGGT1):c.3364A>T (p.Thr1122Ser)	UGGT1 (T1122S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215422	NM_020120.4(UGGT1):c.3377C>T (p.Pro1126Leu)	UGGT1 (P1126L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186055	NM_020120.4(UGGT1):c.3386G>A (p.Gly1129Glu)	UGGT1 (G1129E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186056	NM_020120.4(UGGT1):c.3398C>T (p.Thr1133Ile)	UGGT1 (T1133I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 711014	NM_020120.4(UGGT1):c.3408T>C (p.Thr1136=)	UGGT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 731586	NM_020120.4(UGGT1):c.3416A>G (p.Asn1139Ser)	UGGT1 (N1139S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2612377	NM_020120.4(UGGT1):c.3419C>T (p.Pro1140Leu)	UGGT1 (P1140L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330812	NM_020120.4(UGGT1):c.3512G>A (p.Arg1171His)	UGGT1 (R1171H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 739845	NM_020120.4(UGGT1):c.3540-7C>T	UGGT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3186057	NM_020120.4(UGGT1):c.3544G>A (p.Asp1182Asn)	UGGT1 (D1182N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490738	NM_020120.4(UGGT1):c.3560C>T (p.Pro1187Leu)	UGGT1 (P1187L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 708664	NM_020120.4(UGGT1):c.3563C>T (p.Pro1188Leu)	UGGT1 (P1188L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2287030	NM_020120.4(UGGT1):c.3600C>G (p.Phe1200Leu)	UGGT1 (F1200L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1701386	NM_020120.4(UGGT1):c.3621_3622delinsAT (p.Lys1208Ter)	UGGT1 (K1208*)	Indel (nonsense +1 more)	not provided	GUncertain significance
Select item 731587	NM_020120.4(UGGT1):c.3710A>G (p.Lys1237Arg)	UGGT1 (K1237R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2302350	NM_020120.4(UGGT1):c.3781G>T (p.Val1261Phe)	UGGT1 (V1261F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507558	NM_020120.4(UGGT1):c.4121A>G (p.Asn1374Ser)	UGGT1 (N1374S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2278998	NM_020120.4(UGGT1):c.4147A>G (p.Thr1383Ala)	UGGT1 (T1383A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523455	NM_020120.4(UGGT1):c.4225G>A (p.Gly1409Arg)	UGGT1 (G1409R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186058	NM_020120.4(UGGT1):c.4282A>G (p.Ile1428Val)	UGGT1 (I1428V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 718492	NM_020120.4(UGGT1):c.4503G>A (p.Pro1501=)	LOC126806345, UGGT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign

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