ClinVar for Gene (Select 60558) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3283184	NM_021927.3(GUF1):c.838G>A (p.Val280Ile)	GUF1 (V280I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3283183	NM_021927.3(GUF1):c.1181T>C (p.Leu394Pro)	GUF1 (L70P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103333	NM_021927.3(GUF1):c.342A>T (p.Arg114Ser)	GUF1 (R114S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3103332	NM_021927.3(GUF1):c.1927A>G (p.Lys643Glu)	GUF1 (K603E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103331	NM_021927.3(GUF1):c.1717G>A (p.Asp573Asn)	GUF1 (D249N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103329	NM_021927.3(GUF1):c.1321T>C (p.Ser441Pro)	GUF1 (S441P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103328	NM_021927.3(GUF1):c.1288C>G (p.Pro430Ala)	GUF1 (P106A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103327	NM_021927.3(GUF1):c.118C>T (p.Pro40Ser)	GUF1, LOC129992541 (P40S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3063718	NM_021927.3(GUF1):c.682_703delinsTCTAAA (p.Leu228fs)	GUF1 (L228fs)	Indel (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3055492	NM_021927.3(GUF1):c.586-4A>T	GUF1	Single nucleotide variant (intron variant)	GUF1-related disorder	GLikely benign
Select item 3051454	NM_021927.3(GUF1):c.735-10T>C	GUF1	Single nucleotide variant (intron variant)	GUF1-related disorder	GLikely benign
Select item 3022523	NM_021927.3(GUF1):c.1873-9A>G	GUF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021498	NM_021927.3(GUF1):c.425C>T (p.Pro142Leu)	GUF1 (P142L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3017588	NM_021927.3(GUF1):c.995A>G (p.Gln332Arg)	GUF1 (Q332R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3013672	NM_021927.3(GUF1):c.1646C>T (p.Ala549Val)	GUF1 (A225V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008579	NM_021927.3(GUF1):c.1716-8T>C	GUF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006675	NM_021927.3(GUF1):c.1002A>T (p.Gly334=)	GUF1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3004355	NM_021927.3(GUF1):c.1685C>T (p.Thr562Ile)	GUF1 (T238I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003488	NM_021927.3(GUF1):c.1479+18T>C	GUF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003361	NM_021927.3(GUF1):c.264C>T (p.Leu88=)	GUF1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3001801	NM_021927.3(GUF1):c.669+14C>A	GUF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999185	NM_021927.3(GUF1):c.1835C>T (p.Thr612Ile)	GUF1 (T612I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2998731	NM_021927.3(GUF1):c.334C>T (p.Arg112Ter)	GUF1 (R112*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2997965	NM_021927.3(GUF1):c.1137G>A (p.Leu379=)	GUF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997964	NM_021927.3(GUF1):c.788T>C (p.Phe263Ser)	GUF1 (F263S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2997643	NM_021927.3(GUF1):c.1753C>T (p.Arg585Trp)	GUF1 (R261W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2997169	NM_021927.3(GUF1):c.735-19_738del	GUF1	Deletion (splice acceptor variant)	not provided	GUncertain significance
Select item 2996314	NM_021927.3(GUF1):c.416T>C (p.Ile139Thr)	GUF1 (I139T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2996018	NM_021927.3(GUF1):c.2006A>C (p.Lys669Thr)	GUF1 (K669T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2995760	NM_021927.3(GUF1):c.1231G>C (p.Glu411Gln)	GUF1 (E411Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987717	NM_021927.3(GUF1):c.422C>A (p.Thr141Lys)	GUF1 (T141K)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2986209	NM_021927.3(GUF1):c.1086T>G (p.Tyr362Ter)	GUF1 (Y38* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2983885	NM_021927.3(GUF1):c.1483C>G (p.Arg495Gly)	GUF1 (R495G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980680	NM_021927.3(GUF1):c.1043C>T (p.Pro348Leu)	GUF1 (P24L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980206	NM_021927.3(GUF1):c.1483C>T (p.Arg495Ter)	GUF1 (R171* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2972108	NM_021927.3(GUF1):c.1203-10C>A	GUF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970735	NM_021927.3(GUF1):c.66C>G (p.Ala22=)	GUF1, LOC129992541	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2970383	NM_021927.3(GUF1):c.658G>A (p.Glu220Lys)	GUF1 (E220K)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2967201	NM_021927.3(GUF1):c.1873-12A>G	GUF1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2966870	NM_021927.3(GUF1):c.1375C>T (p.Gln459Ter)	GUF1 (Q135* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2960165	NM_021927.3(GUF1):c.1753C>G (p.Arg585Gly)	GUF1 (R261G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2958642	NM_021927.3(GUF1):c.928A>G (p.Thr310Ala)	GUF1 (T310A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2956091	NM_021927.3(GUF1):c.1291A>G (p.Thr431Ala)	GUF1 (T107A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2916321	NM_021927.3(GUF1):c.1246C>T (p.Arg416Ter)	GUF1 (R92* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2910184	NM_021927.3(GUF1):c.833G>T (p.Gly278Val)	GUF1 (G278V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2907954	NM_021927.3(GUF1):c.1953C>T (p.Asn651=)	GUF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906871	NM_021927.3(GUF1):c.1341T>C (p.His447=)	GUF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906129	NM_021927.3(GUF1):c.1477G>A (p.Glu493Lys)	GUF1 (E493K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2900996	NM_021927.3(GUF1):c.10C>G (p.Leu4Val)	GUF1, LOC129992541 (L4V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2900573	NM_021927.3(GUF1):c.691A>G (p.Asn231Asp)	GUF1 (N231D)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2896376	NM_021927.3(GUF1):c.1208G>C (p.Gly403Ala)	GUF1 (G403A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2894707	NM_021927.3(GUF1):c.1254G>C (p.Glu418Asp)	GUF1 (E94D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2889549	NM_021927.3(GUF1):c.1714A>G (p.Lys572Glu)	GUF1 (K248E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2872147	NM_021927.3(GUF1):c.811G>A (p.Ala271Thr)	GUF1 (A271T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2870962	NM_021927.3(GUF1):c.166-7T>C	GUF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867333	NM_021927.3(GUF1):c.367G>A (p.Ala123Thr)	GUF1 (A123T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 2866176	NM_021927.3(GUF1):c.177C>G (p.Asp59Glu)	GUF1 (D59E)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2855748	NM_021927.3(GUF1):c.1019A>G (p.His340Arg)	GUF1 (H340R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2853738	NM_021927.3(GUF1):c.1873-13A>T	GUF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2853735	NM_021927.3(GUF1):c.1873-15del	GUF1	Deletion (intron variant)	not provided	GBenign
Select item 2852718	NM_021927.3(GUF1):c.1977T>C (p.Phe659=)	GUF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2845946	NM_021927.3(GUF1):c.114T>G (p.Ala38=)	GUF1, LOC129992541	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2820306	NM_021927.3(GUF1):c.850G>A (p.Asp284Asn)	GUF1 (D284N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2819543	NM_021927.3(GUF1):c.586-17G>A	GUF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2814319	NM_021927.3(GUF1):c.1685C>G (p.Thr562Ser)	GUF1 (T238S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2812175	NM_021927.3(GUF1):c.1512_1515del (p.Phe504fs)	GUF1 (F504fs +1 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2810978	NM_021927.3(GUF1):c.294A>G (p.Thr98=)	GUF1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2809935	NM_021927.3(GUF1):c.66del (p.Ala23fs)	GUF1, LOC129992541 (A23fs)	Deletion (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2806596	NM_021927.3(GUF1):c.30G>T (p.Gly10=)	GUF1, LOC129992541	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2804207	NM_021927.3(GUF1):c.1947T>G (p.Ile649Met)	GUF1 (I609M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2797351	NM_021927.3(GUF1):c.939-15A>G	GUF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2796137	NM_021927.3(GUF1):c.891T>A (p.Val297=)	GUF1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2796108	NM_021927.3(GUF1):c.113C>A (p.Ala38Asp)	GUF1, LOC129992541 (A38D)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2795848	NM_021927.3(GUF1):c.1079-14C>T	GUF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2791956	NM_021927.3(GUF1):c.662G>T (p.Cys221Phe)	GUF1 (C221F)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2787119	NM_021927.3(GUF1):c.478G>C (p.Gly160Arg)	GUF1 (G160R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2786697	NM_021927.3(GUF1):c.938+9T>C	GUF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2784588	NM_021927.3(GUF1):c.1098A>G (p.Gln366=)	GUF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2780591	NM_021927.3(GUF1):c.1342A>G (p.Arg448Gly)	GUF1 (R448G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2778604	NM_021927.3(GUF1):c.652A>G (p.Ser218Gly)	GUF1 (S218G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2776831	NM_021927.3(GUF1):c.1873-6T>C	GUF1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2769219	NM_021927.3(GUF1):c.1554G>A (p.Leu518=)	GUF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2765820	NM_021927.3(GUF1):c.1202+11T>C	GUF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2764881	NM_021927.3(GUF1):c.969T>G (p.Ala323=)	GUF1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2763357	NM_021927.3(GUF1):c.884dup (p.Tyr295Ter)	GUF1 (Y295*)	Duplication (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2760892	NM_021927.3(GUF1):c.1082T>C (p.Met361Thr)	GUF1 (M361T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2759291	NM_021927.3(GUF1):c.184A>C (p.Arg62=)	GUF1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2748393	NM_021927.3(GUF1):c.1480-13C>T	GUF1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2727594	NM_021927.3(GUF1):c.89C>T (p.Pro30Leu)	GUF1, LOC129992541 (P30L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2725968	NM_021927.3(GUF1):c.1283C>A (p.Thr428Lys)	GUF1 (T104K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2722858	NM_021927.3(GUF1):c.1058C>T (p.Ala353Val)	GUF1 (A29V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2713327	NM_021927.3(GUF1):c.591T>C (p.Asp197=)	GUF1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2713172	NM_021927.3(GUF1):c.1009T>C (p.Leu337=)	GUF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2709983	NM_021927.3(GUF1):c.81C>T (p.Ala27=)	GUF1, LOC129992541	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2705071	NM_021927.3(GUF1):c.1438A>C (p.Thr480Pro)	GUF1 (T156P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2700663	NM_021927.3(GUF1):c.1208G>A (p.Gly403Glu)	GUF1 (G403E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2698886	NM_021927.3(GUF1):c.1134dup (p.Leu379fs)	GUF1 (L55fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2696450	NM_021927.3(GUF1):c.165+10C>G	GUF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2612635	NM_021927.3(GUF1):c.887A>G (p.Glu296Gly)	GUF1 (E296G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance

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