Mdfic Variant Search Result - Rat Genome Database

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58 records found for search term Mdfic

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
598239600	CV3992881	single nucleotide variant	NM_001166345.3(MDFIC):c.-5G>A	Inborn genetic diseases [RCV005364462]	uncertain significance	7	114923029	114923029	Human	1	name
407473812	CV3453396	single nucleotide variant	NM_001166345.3(MDFIC):c.-98G>T	Inborn genetic diseases [RCV004637955]	uncertain significance	7	114922936	114922936	Human	1	name
597698523	CV3553068	single nucleotide variant	NM_001166345.3(MDFIC):c.-45C>G	Inborn genetic diseases [RCV004956243]	uncertain significance	7	114922989	114922989	Human	1	name
156401571	CV2207397	single nucleotide variant	NM_001166345.3(MDFIC):c.-303G>A	Inborn genetic diseases [RCV002657020]	uncertain significance	7	114922441	114922441	Human	1	name
156256072	CV2219727	single nucleotide variant	NM_001166345.3(MDFIC):c.-317T>A	Inborn genetic diseases [RCV002702738]	uncertain significance	7	114922427	114922427	Human	1	name
156025765	CV2274014	single nucleotide variant	NM_001166345.3(MDFIC):c.-269T>A	Inborn genetic diseases [RCV002844994]	uncertain significance	7	114922475	114922475	Human	1	name
156083507	CV2381890	single nucleotide variant	NM_001166345.3(MDFIC):c.-225G>A	Inborn genetic diseases [RCV002694650]	uncertain significance	7	114922519	114922519	Human	1	name
401737540	CV2718131	single nucleotide variant	NM_001166345.3(MDFIC):c.-224T>A	Inborn genetic diseases [RCV003273449]	uncertain significance	7	114922520	114922520	Human	1	name
401777004	CV2721566	single nucleotide variant	NM_001166345.3(MDFIC):c.-309G>A	Inborn genetic diseases [RCV003263416]	uncertain significance	7	114922435	114922435	Human	1	name
401777007	CV2721567	single nucleotide variant	NM_001166345.3(MDFIC):c.-308C>A	Inborn genetic diseases [RCV003263417]	uncertain significance	7	114922436	114922436	Human	1	name
401884712	CV2786554	single nucleotide variant	NM_001166345.3(MDFIC):c.-174T>C	Inborn genetic diseases [RCV003386548]	uncertain significance	7	114922570	114922570	Human	1	name
405679873	CV3289052	single nucleotide variant	NM_001166345.3(MDFIC):c.-116G>T	Inborn genetic diseases [RCV004421413]	uncertain significance	7	114922628	114922628	Human	1	name
407473805	CV3453394	single nucleotide variant	NM_001166345.3(MDFIC):c.-198G>T	Inborn genetic diseases [RCV004637953]	uncertain significance	7	114922546	114922546	Human	1	name
597680888	CV3553063	single nucleotide variant	NM_001166345.3(MDFIC):c.-188G>C	Inborn genetic diseases [RCV004951876]	uncertain significance	7	114922556	114922556	Human	1	name
597680914	CV3553070	single nucleotide variant	NM_001166345.3(MDFIC):c.-150A>T	Inborn genetic diseases [RCV004951880]	uncertain significance	7	114922594	114922594	Human	1	name
597699030	CV3553071	single nucleotide variant	NM_001166345.3(MDFIC):c.-239G>A	Inborn genetic diseases [RCV004956245]	uncertain significance	7	114922505	114922505	Human	1	name
598211543	CV3992879	single nucleotide variant	NM_001166345.3(MDFIC):c.-184G>C	Inborn genetic diseases [RCV005378037]	likely benign	7	114922560	114922560	Human	1	name
408383399	CV3503905	microsatellite	NM_001166345.3(MDFIC):c.-158GGA[5]	MDFIC-related disorder [RCV004730609]	likely benign	7	114922584	114922586	Human		name , trait , alternate_id
155914664	CV2242786	single nucleotide variant	NM_001166345.3(MDFIC):c.2T>A (p.Met1Lys)	Inborn genetic diseases [RCV002772099]	uncertain significance	7	114923035	114923035	Human	1	name
156057409	CV2266693	single nucleotide variant	NM_001166345.3(MDFIC):c.1A>C (p.Met1Leu)	Inborn genetic diseases [RCV002822675]	uncertain significance	7	114923034	114923034	Human	1	name
15173071	CV699764	single nucleotide variant	NM_001166345.3(MDFIC):c.198G>A (p.Ser66=)	not provided [RCV000950163]	likely benign	7	114942378	114942378	Human		name
156256508	CV2307806	single nucleotide variant	NM_001166345.3(MDFIC):c.37G>T (p.Val13Leu)	Inborn genetic diseases [RCV002920236]	uncertain significance	7	114923070	114923070	Human	1	name
401908996	CV2823126	single nucleotide variant	NM_001166345.3(MDFIC):c.468C>G (p.Ser156=)	not provided [RCV003423756]	likely benign	7	114979756	114979756	Human		name
597680908	CV3553067	single nucleotide variant	NM_001166345.3(MDFIC):c.92A>G (p.Gln31Arg)	Inborn genetic diseases [RCV004951879]	uncertain significance	7	114923125	114923125	Human	1	name
153348304	CV1695331	duplication	NM_001166345.3(MDFIC):c.391dup (p.Met131fs)	Lymphatic malformation 12 [RCV002279857]\|MDFIC-related disorder [RCV003418436]	pathogenic\|likely pathogenic	7	114979673	114979674	Human	2	name , trait , alternate_id
153348307	CV1695334	single nucleotide variant	NM_001166345.3(MDFIC):c.187G>T (p.Gly63Ter)	Lymphatic malformation 12 [RCV002279860]	pathogenic	7	114942367	114942367	Human	1	name
156135033	CV2213285	single nucleotide variant	NM_001166345.3(MDFIC):c.129A>G (p.Ile43Met)	Inborn genetic diseases [RCV002696695]	uncertain significance	7	114942309	114942309	Human	1	name
156257253	CV2219851	single nucleotide variant	NM_001166345.3(MDFIC):c.125A>G (p.Asp42Gly)	Inborn genetic diseases [RCV002702806]	uncertain significance	7	114942305	114942305	Human	1	name
156080219	CV2300987	single nucleotide variant	NM_001166345.3(MDFIC):c.190A>G (p.Asn64Asp)	Inborn genetic diseases [RCV002887400]	uncertain significance	7	114942370	114942370	Human	1	name
405679879	CV3289053	single nucleotide variant	NM_001166345.3(MDFIC):c.167T>A (p.Met56Lys)	Inborn genetic diseases [RCV004421414]	uncertain significance	7	114942347	114942347	Human	1	name
405679884	CV3289054	single nucleotide variant	NM_001166345.3(MDFIC):c.211A>T (p.Ile71Phe)	Inborn genetic diseases [RCV004421415]	uncertain significance	7	114942391	114942391	Human	1	name
405679889	CV3289055	single nucleotide variant	NM_001166345.3(MDFIC):c.281G>A (p.Gly94Asp)	Inborn genetic diseases [RCV004421416]	uncertain significance	7	114979569	114979569	Human	1	name
407473809	CV3453395	single nucleotide variant	NM_001166345.3(MDFIC):c.229C>T (p.Arg77Cys)	Inborn genetic diseases [RCV004637954]	uncertain significance	7	114979517	114979517	Human	1	name
407473815	CV3453397	single nucleotide variant	NM_001166345.3(MDFIC):c.125A>C (p.Asp42Ala)	Inborn genetic diseases [RCV004637956]	uncertain significance	7	114942305	114942305	Human	1	name
598239590	CV3992875	single nucleotide variant	NM_001166345.3(MDFIC):c.278T>C (p.Ile93Thr)	Inborn genetic diseases [RCV005364459]	likely benign	7	114979566	114979566	Human	1	name
598211532	CV3992876	single nucleotide variant	NM_001166345.3(MDFIC):c.173A>G (p.Asp58Gly)	Inborn genetic diseases [RCV005378035]	uncertain significance	7	114942353	114942353	Human	1	name
598239592	CV3992878	single nucleotide variant	NM_001166345.3(MDFIC):c.271G>A (p.Glu91Lys)	Inborn genetic diseases [RCV005364460]	uncertain significance	7	114979559	114979559	Human	1	name
15136124	CV735898	single nucleotide variant	NM_001166345.3(MDFIC):c.179C>T (p.Ser60Phe)	not provided [RCV000898579]	likely benign	7	114942359	114942359	Human		name
153348305	CV1695332	single nucleotide variant	NM_001166345.3(MDFIC):c.732T>G (p.Phe244Leu)	Lymphatic malformation 12 [RCV002279858]	pathogenic\|uncertain significance	7	115015926	115015926	Human	1	name
155984506	CV2274651	single nucleotide variant	NM_001166345.3(MDFIC):c.317G>A (p.Gly106Glu)	Inborn genetic diseases [RCV002863961]	uncertain significance	7	114979605	114979605	Human	1	name
156348974	CV2376370	single nucleotide variant	NM_001166345.3(MDFIC):c.383C>T (p.Ser128Phe)	Inborn genetic diseases [RCV002675416]	uncertain significance	7	114979671	114979671	Human	1	name
155928580	CV2388906	single nucleotide variant	NM_001166345.3(MDFIC):c.601T>C (p.Cys201Arg)	Inborn genetic diseases [RCV002773978]	uncertain significance	7	115015795	115015795	Human	1	name
329383385	CV2434515	single nucleotide variant	NM_001166345.3(MDFIC):c.376C>T (p.Pro126Ser)	Inborn genetic diseases [RCV003188742]	uncertain significance	7	114979664	114979664	Human	1	name
329363334	CV2446157	single nucleotide variant	NM_001166345.3(MDFIC):c.317G>T (p.Gly106Val)	Inborn genetic diseases [RCV003181287]	uncertain significance	7	114979605	114979605	Human	1	name
329377740	CV2462827	single nucleotide variant	NM_001166345.3(MDFIC):c.619G>A (p.Glu207Lys)	Inborn genetic diseases [RCV003211970]	uncertain significance	7	115015813	115015813	Human	1	name
405679894	CV3289056	single nucleotide variant	NM_001166345.3(MDFIC):c.304G>T (p.Gly102Cys)	Inborn genetic diseases [RCV004421417]	uncertain significance	7	114979592	114979592	Human	1	name
405679898	CV3289057	single nucleotide variant	NM_001166345.3(MDFIC):c.352G>A (p.Ala118Thr)	Inborn genetic diseases [RCV004421418]	likely benign	7	114979640	114979640	Human	1	name
405679905	CV3289058	single nucleotide variant	NM_001166345.3(MDFIC):c.362G>A (p.Arg121His)	Inborn genetic diseases [RCV004421419]	uncertain significance	7	114979650	114979650	Human	1	name
405679909	CV3289059	single nucleotide variant	NM_001166345.3(MDFIC):c.466T>C (p.Ser156Pro)	Inborn genetic diseases [RCV004421420]	uncertain significance	7	114979754	114979754	Human	1	name
405679913	CV3289060	single nucleotide variant	NM_001166345.3(MDFIC):c.553A>G (p.Ile185Val)	Inborn genetic diseases [RCV004421421]	uncertain significance	7	115015747	115015747	Human	1	name
597698517	CV3553065	single nucleotide variant	NM_001166345.3(MDFIC):c.578G>A (p.Gly193Asp)	Inborn genetic diseases [RCV004956242]	uncertain significance	7	115015772	115015772	Human	1	name
597680900	CV3553066	single nucleotide variant	NM_001166345.3(MDFIC):c.361C>T (p.Arg121Cys)	Inborn genetic diseases [RCV004951878]	uncertain significance	7	114979649	114979649	Human	1	name
597698530	CV3553069	single nucleotide variant	NM_001166345.3(MDFIC):c.695G>T (p.Cys232Phe)	Inborn genetic diseases [RCV004956244]	uncertain significance	7	115015889	115015889	Human	1	name
598239596	CV3992880	single nucleotide variant	NM_001166345.3(MDFIC):c.457G>A (p.Ala153Thr)	Inborn genetic diseases [RCV005364461]	uncertain significance	7	114979745	114979745	Human	1	name
15181439	CV722261	single nucleotide variant	NM_001166345.3(MDFIC):c.346G>A (p.Gly116Arg)	not provided [RCV000885768]	likely benign	7	114979634	114979634	Human		name
408377106	CV3501485	indel	NM_001166345.3(MDFIC):c.255_256delinsAT (p.Gln86Ter)	Lymphatic malformation 12 [RCV004727571]	likely pathogenic	7	114979543	114979544	Human		name
152103499	CV1667462	deletion	NM_001166345.3(MDFIC):c.585del (p.Ile194_Cys195insTer)	not provided [RCV002214449]	likely pathogenic\|uncertain significance	7	115015779	115015779	Human		name
153348306	CV1695333	deletion	NM_001166345.3(MDFIC):c.371del (p.Leu123_Ser124insTer)	Lymphatic malformation 12 [RCV002279859]	pathogenic	7	114979659	114979659	Human	1	name

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