Ufm1 Variant Search Result - Rat Genome Database

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39 records found for search term Ufm1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
405285668	CV3209715	single nucleotide variant	NM_016617.4(UFM1):c.2+4A>C	UFM1-related disorder [RCV003959281]	likely benign	13	38349925	38349925	Human		name , trait , alternate_id
408368190	CV3518117	single nucleotide variant	NM_016617.4(UFM1):c.2+1G>A	Congenital long QT syndrome [RCV004733999]	likely pathogenic	13	38349922	38349922	Human	1	name
152980842	CV1676164	single nucleotide variant	NM_016617.4(UFM1):c.2+25A>T	Leukodystrophy, hypomyelinating, 14 [RCV002245240]\|not provided [RCV004707803]	benign	13	38349946	38349946	Human	1	name
127312207	CV1157138	single nucleotide variant	NM_016617.4(UFM1):c.59+71T>C	not provided [RCV001518871]	benign	13	38350126	38350126	Human		name
151854730	CV1455848	single nucleotide variant	NM_016617.4(UFM1):c.59+90C>G	not provided [RCV002017036]	uncertain significance	13	38350145	38350145	Human		name
151766969	CV1496113	single nucleotide variant	NM_016617.4(UFM1):c.59+75C>T	not provided [RCV001863704]	uncertain significance	13	38350130	38350130	Human		name
156033777	CV2002532	single nucleotide variant	NM_016617.4(UFM1):c.59+77A>G	not provided [RCV002658772]	likely benign	13	38350132	38350132	Human		name
156116013	CV2035547	single nucleotide variant	NM_016617.4(UFM1):c.59+71T>G	not provided [RCV002785595]	likely benign	13	38350126	38350126	Human		name
156185219	CV2152133	single nucleotide variant	NM_016617.4(UFM1):c.59+69G>A	not provided [RCV003005833]	uncertain significance	13	38350124	38350124	Human		name
156274725	CV2164307	single nucleotide variant	NM_016617.4(UFM1):c.59+93A>C	not provided [RCV003027112]	uncertain significance	13	38350148	38350148	Human		name
596943213	CV3542832	single nucleotide variant	NM_016617.4(UFM1):c.59+99C>T	not provided [RCV004798416]	uncertain significance	13	38350154	38350154	Human		name
127297440	CV1123329	single nucleotide variant	NM_016617.4(UFM1):c.59+190A>G	not provided [RCV001477603]	likely benign	13	38350245	38350245	Human		name
127321418	CV1157139	single nucleotide variant	NM_016617.4(UFM1):c.118-20T>A	Leukodystrophy, hypomyelinating, 14 [RCV002506637]\|not provided [RCV001523049]	benign\|likely benign	13	38358073	38358073	Human	1	name
151892012	CV1399618	single nucleotide variant	NM_016617.4(UFM1):c.59+109C>T	not provided [RCV001943665]	uncertain significance	13	38350164	38350164	Human		name
151853641	CV1514708	duplication	NM_016617.4(UFM1):c.59+121dup	not provided [RCV001979262]	uncertain significance	13	38350173	38350174	Human		name
152093998	CV1632039	deletion	NM_016617.4(UFM1):c.157+15del	not provided [RCV002132389]	benign	13	38358147	38358147	Human		name
155951601	CV1936100	single nucleotide variant	NM_016617.4(UFM1):c.190+44T>C	not provided [RCV002511753]	benign	13	38359377	38359377	Human		name
156074502	CV1989359	single nucleotide variant	NM_016617.4(UFM1):c.59+104C>T	not provided [RCV002638700]	likely benign	13	38350159	38350159	Human		name
156386892	CV1995851	single nucleotide variant	NM_016617.4(UFM1):c.118-18T>A	not provided [RCV002654052]	likely benign	13	38358075	38358075	Human		name
156366491	CV2177080	single nucleotide variant	NM_016617.4(UFM1):c.59+112C>T	not provided [RCV003049382]	uncertain significance	13	38350167	38350167	Human		name
405059589	CV3129442	single nucleotide variant	NM_016617.4(UFM1):c.118-19T>A	not provided [RCV003832711]	likely benign	13	38358074	38358074	Human		name
408388174	CV3520675	deletion	NM_016617.4(UFM1):c.59+126del	not provided [RCV004761508]	uncertain significance	13	38350180	38350180	Human		name
13517109	CV486703	deletion	NM_001286704.2(UFM1):c.-273_-271del	Leukodystrophy, hypomyelinating, 14 [RCV000585791]\|not provided [RCV000782053]	pathogenic\|likely pathogenic	13	38349765	38349767	Human	1	name
151739783	CV1381914	single nucleotide variant	NM_016617.4(UFM1):c.75A>G (p.Glu25=)	not provided [RCV001968029]	likely benign	13	38354254	38354254	Human		name
156105297	CV2001945	deletion	NM_016617.4(UFM1):c.190+20_190+21del	not provided [RCV002639733]	likely benign	13	38359352	38359353	Human		name
156448634	CV2402042	single nucleotide variant	NM_016617.4(UFM1):c.1A>G (p.Met1Val)	Leukodystrophy, hypomyelinating, 14 [RCV003120201]	likely pathogenic	13	38349920	38349920	Human	1	name
405263223	CV3185098	single nucleotide variant	NM_016617.4(UFM1):c.51G>A (p.Pro17=)	not provided [RCV003885662]	likely benign	13	38350047	38350047	Human		name
156292999	CV1926120	single nucleotide variant	NM_016617.4(UFM1):c.180A>C (p.Ala60=)	UFM1-related disorder [RCV003973710]\|not provided [RCV002647276]	likely benign	13	38359323	38359323	Human	1	name , trait , alternate_id
408380569	CV3501203	single nucleotide variant	NM_016617.4(UFM1):c.138A>C (p.Thr46=)	not provided [RCV004727292]	likely benign	13	38358113	38358113	Human		name
405280604	CV3195636	single nucleotide variant	NM_016617.4(UFM1):c.50C>T (p.Pro17Leu)	UFM1-related disorder [RCV003906873]	likely benign	13	38350046	38350046	Human		name , trait , alternate_id
598266020	CV3929183	single nucleotide variant	NM_016617.4(UFM1):c.88A>C (p.Thr30Pro)	not specified [RCV005301844]	uncertain significance	13	38354267	38354267	Human		name
126737613	CV1017751	single nucleotide variant	NM_016617.4(UFM1):c.140G>A (p.Ser47Asn)	Leukodystrophy, hypomyelinating, 14 [RCV001328784]\|not provided [RCV001859251]	uncertain significance	13	38358115	38358115	Human	1	name
155798350	CV1863535	single nucleotide variant	NM_016617.4(UFM1):c.161G>A (p.Gly54Glu)	not provided [RCV002473430]	uncertain significance	13	38359304	38359304	Human		name
155800438	CV1863587	single nucleotide variant	NM_016617.4(UFM1):c.223C>T (p.Arg75Trp)	not provided [RCV002474010]	uncertain significance	13	38360743	38360743	Human		name
155932413	CV2290652	single nucleotide variant	NM_016617.4(UFM1):c.175C>A (p.Pro59Thr)	not specified [RCV004149184]	uncertain significance	13	38359318	38359318	Human		name
405800556	CV3337969	single nucleotide variant	NM_016617.4(UFM1):c.211G>C (p.Gly71Arg)	not specified [RCV004477356]	uncertain significance	13	38360731	38360731	Human		name
597685862	CV3622845	single nucleotide variant	NM_016617.4(UFM1):c.145A>C (p.Ile49Leu)	not specified [RCV004884088]	uncertain significance	13	38358120	38358120	Human		name
597685869	CV3622846	single nucleotide variant	NM_016617.4(UFM1):c.242G>A (p.Arg81His)	not specified [RCV004884089]	uncertain significance	13	38360762	38360762	Human		name
13791155	CV550170	single nucleotide variant	NM_016617.4(UFM1):c.241C>T (p.Arg81Cys)	Leukodystrophy, hypomyelinating, 14 [RCV000677143]\|not provided [RCV005091967]	pathogenic\|likely pathogenic	13	38360761	38360761	Human	1	name

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