Donson Variant Search Result - Rat Genome Database

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259 records found for search term Donson

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
329353132	CV2476873	single nucleotide variant	NM_017613.4(DONSON):c.*4C>T	not provided [RCV003223105]	benign	21	33578303	33578303	Human		name
151797923	CV1445710	single nucleotide variant	NM_017613.4(DONSON):c.402+1G>C	not provided [RCV002011297]	likely pathogenic	21	33587521	33587521	Human		name
152072889	CV1574553	single nucleotide variant	NM_017613.4(DONSON):c.403-9T>G	not provided [RCV002192024]	likely benign	21	33586190	33586190	Human		name
152050215	CV1585689	single nucleotide variant	NM_017613.4(DONSON):c.965-6A>C	not provided [RCV002145593]	likely benign	21	33582252	33582252	Human		name
152082276	CV1641504	single nucleotide variant	NM_017613.4(DONSON):c.965-3T>C	not provided [RCV002211575]	benign	21	33582249	33582249	Human		name
156182604	CV1868538	single nucleotide variant	NM_017613.4(DONSON):c.786-7T>C	DONSON-related disorder [RCV003418725]\|not provided [RCV003041394]	likely benign\|uncertain significance	21	33583673	33583673	Human	1	name , trait , alternate_id
156053144	CV1932038	single nucleotide variant	NM_017613.4(DONSON):c.607-7A>G	not provided [RCV002620678]	likely benign	21	33584775	33584775	Human		name
156147271	CV2003035	single nucleotide variant	NM_017613.4(DONSON):c.402+4A>G	not provided [RCV002663779]	uncertain significance	21	33587518	33587518	Human		name
156005532	CV2015004	single nucleotide variant	NM_017613.4(DONSON):c.965-7C>T	not provided [RCV002690253]	likely benign	21	33582253	33582253	Human		name
156129096	CV2112487	single nucleotide variant	NM_017613.4(DONSON):c.786-8C>T	not provided [RCV002928124]	likely benign	21	33583674	33583674	Human		name
156140165	CV2177822	single nucleotide variant	NM_017613.4(DONSON):c.964+9T>G	not provided [RCV003040007]	likely benign	21	33583479	33583479	Human		name
405161154	CV2899362	single nucleotide variant	NM_017613.4(DONSON):c.607-8G>A	not provided [RCV003562405]	likely benign	21	33584776	33584776	Human		name
127296194	CV1162255	single nucleotide variant	NM_017613.4(DONSON):c.607-36G>A	Meier-Gorlin syndrome [RCV001527368]	pathogenic	21	33584804	33584804	Human	1	name
150431114	CV1235339	deletion	NM_017613.4(DONSON):c.965-51del	not provided [RCV001641709]	benign	21	33582297	33582297	Human		name
150480446	CV1239580	single nucleotide variant	NM_017613.4(DONSON):c.402+52C>T	not provided [RCV001652743]	benign	21	33587470	33587470	Human		name
151826444	CV1425933	deletion	NM_017613.4(DONSON):c.1563+1del	not provided [RCV001993278]	pathogenic	21	33579349	33579349	Human		name
152076235	CV1542809	single nucleotide variant	NM_017613.4(DONSON):c.402+18T>C	not provided [RCV002130255]	likely benign	21	33587504	33587504	Human		name
152119392	CV1576010	single nucleotide variant	NM_017613.4(DONSON):c.402+20A>G	not provided [RCV002197839]	likely benign	21	33587502	33587502	Human		name
152033486	CV1621256	single nucleotide variant	NM_017613.4(DONSON):c.964+10T>G	not provided [RCV002205181]	likely benign	21	33583478	33583478	Human		name
152027971	CV1642586	single nucleotide variant	NM_017613.4(DONSON):c.1046+8A>G	not provided [RCV002185679]	likely benign	21	33582157	33582157	Human		name
152085184	CV1645159	single nucleotide variant	NM_017613.4(DONSON):c.964+13G>A	not provided [RCV002131335]	likely benign	21	33583475	33583475	Human		name
156414354	CV1901768	single nucleotide variant	NM_017613.4(DONSON):c.1152-3C>T	not provided [RCV002588562]	uncertain significance	21	33581503	33581503	Human		name
156418268	CV1914650	single nucleotide variant	NM_017613.4(DONSON):c.1350+6A>T	not provided [RCV002611448]	uncertain significance	21	33581296	33581296	Human		name
155911044	CV1980162	single nucleotide variant	NM_017613.4(DONSON):c.321+12G>A	not provided [RCV002613992]	likely benign	21	33588309	33588309	Human		name
329955050	CV2670990	single nucleotide variant	NM_017613.4(DONSON):c.965-13G>A	not specified [RCV003236259]	uncertain significance	21	33582259	33582259	Human		name
402507498	CV3036109	single nucleotide variant	NM_017613.4(DONSON):c.1046+2T>C	not provided [RCV003715345]	likely pathogenic	21	33582163	33582163	Human		name
405203183	CV3036285	single nucleotide variant	NM_017613.4(DONSON):c.321+17C>A	not provided [RCV003707580]	likely benign	21	33588304	33588304	Human		name
405196459	CV3128735	single nucleotide variant	NM_017613.4(DONSON):c.403-11G>A	not provided [RCV003821473]	likely benign	21	33586192	33586192	Human		name
405180752	CV3147493	single nucleotide variant	NM_017613.4(DONSON):c.606+14A>T	not provided [RCV003842395]	likely benign	21	33585964	33585964	Human		name
404983375	CV3184312	single nucleotide variant	NM_017613.4(DONSON):c.403-11G>C	not provided [RCV003880804]	likely benign	21	33586192	33586192	Human		name
405269313	CV3201577	single nucleotide variant	NM_017613.4(DONSON):c.1563+1G>A	DONSON-related disorder [RCV003899490]	likely pathogenic	21	33579349	33579349	Human		name , trait , alternate_id
597904125	CV3741591	single nucleotide variant	NM_017613.4(DONSON):c.403-11G>T	not provided [RCV005072562]	likely benign	21	33586192	33586192	Human		name
597936389	CV3807633	single nucleotide variant	NM_017613.4(DONSON):c.1151+1G>A	not provided [RCV005158012]	likely pathogenic	21	33581950	33581950	Human		name
597867841	CV3858204	single nucleotide variant	NM_017613.4(DONSON):c.785+10G>A	not provided [RCV005196947]	likely benign	21	33584580	33584580	Human		name
13217365	CV424937	single nucleotide variant	NM_017613.4(DONSON):c.1047-9A>G	DONSON-related disorder [RCV003403146]\|Microcephaly, short stature, and limb abnormalities [RCV000496975]\|Microcephaly-micromelia syndrome [RCV000496971]\|not provided [RCV002524062]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	21	33582064	33582064	Human	2	name , trait , alternate_id
13211083	CV424939	single nucleotide variant	NM_017613.4(DONSON):c.786-22A>G	Microcephaly, short stature, and limb abnormalities [RCV000496970]\|Microcephaly-micromelia syndrome [RCV001261589]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	21	33583688	33583688	Human	2	name
13827678	CV578579	single nucleotide variant	NM_017613.4(DONSON):c.1563+1G>T	Microcephaly, short stature, and limb abnormalities [RCV000714886]\|Microcephaly-micromelia syndrome [RCV003989588]	pathogenic	21	33579349	33579349	Human	2	name
150446110	CV1250619	single nucleotide variant	NM_017613.4(DONSON):c.1151+87T>C	not provided [RCV001667123]	benign	21	33581864	33581864	Human		name
152063498	CV1554406	single nucleotide variant	NM_017613.4(DONSON):c.1563+19G>C	not provided [RCV002190818]	likely benign	21	33579331	33579331	Human		name
152106252	CV1560053	single nucleotide variant	NM_017613.4(DONSON):c.1563+20C>T	not provided [RCV002133889]	likely benign	21	33579330	33579330	Human		name
152100830	CV1610905	single nucleotide variant	NM_017613.4(DONSON):c.1351-12A>G	not provided [RCV002133255]	likely benign	21	33579574	33579574	Human		name
156223292	CV1981427	single nucleotide variant	NM_017613.4(DONSON):c.1564-12A>G	not provided [RCV002626524]	likely benign	21	33578456	33578456	Human		name
156320497	CV2025311	single nucleotide variant	NM_017613.4(DONSON):c.1151+18G>C	not provided [RCV002717056]	likely benign	21	33581933	33581933	Human		name
156294236	CV2183198	single nucleotide variant	NM_017613.4(DONSON):c.1350+15C>T	not provided [RCV003027803]	likely benign	21	33581287	33581287	Human		name
405135741	CV3018589	single nucleotide variant	NM_017613.4(DONSON):c.1564-18G>T	not provided [RCV003702031]	likely benign	21	33578462	33578462	Human		name
405185658	CV3124242	duplication	NM_017613.4(DONSON):c.1047-20dup	not provided [RCV003820441]	likely benign	21	33582074	33582075	Human		name
597905047	CV3784771	single nucleotide variant	NM_017613.4(DONSON):c.1351-12A>C	not provided [RCV005127822]	likely benign	21	33579574	33579574	Human		name
597946939	CV3841774	single nucleotide variant	NM_017613.4(DONSON):c.1563+10C>A	not provided [RCV005189208]	likely benign	21	33579340	33579340	Human		name
150462659	CV1253692	single nucleotide variant	NM_017613.4(DONSON):c.1151+101C>T	not provided [RCV001669734]	benign	21	33581850	33581850	Human	4	name
150462659	CV1253692	single nucleotide variant	NM_017613.4(DONSON):c.1151+101C>T	not provided [RCV001669734]	benign	21	33581850	33581851	Human	4	name
150454292	CV1260638	single nucleotide variant	NM_017613.4(DONSON):c.1351-140T>C	not provided [RCV001681131]	benign	21	33579702	33579702	Human		name
156312059	CV1969715	microsatellite	NM_017613.4(DONSON):c.1151+12GTT[2]	not provided [RCV002578749]	likely benign	21	33581931	33581933	Human		name
152042806	CV1624297	single nucleotide variant	NM_017613.4(DONSON):c.18C>G (p.Pro6=)	not provided [RCV002126304]	likely benign	21	33588624	33588624	Human		name
152078121	CV1661196	single nucleotide variant	NM_017613.4(DONSON):c.15G>T (p.Val5=)	not provided [RCV002130497]	likely benign	21	33588627	33588627	Human		name
597917119	CV3737478	single nucleotide variant	NM_017613.4(DONSON):c.18C>T (p.Pro6=)	not provided [RCV005074267]	likely benign	21	33588624	33588624	Human		name
156374491	CV2003888	single nucleotide variant	NM_017613.4(DONSON):c.7C>T (p.Leu3Phe)	Inborn genetic diseases [RCV002653180]\|not provided [RCV002653179]	uncertain significance	21	33588635	33588635	Human	1	name
156206701	CV2040209	single nucleotide variant	NM_017613.4(DONSON):c.30G>A (p.Pro10=)	DONSON-related disorder [RCV003963359]\|not provided [RCV002790083]	likely benign	21	33588612	33588612	Human	1	name , trait , alternate_id
404979160	CV3009490	deletion	NM_017613.4(DONSON):c.322-20_322-18del	not provided [RCV003690932]	likely benign	21	33587620	33587622	Human		name
405217145	CV3153742	single nucleotide variant	NM_017613.4(DONSON):c.96C>T (p.Ala32=)	not provided [RCV003846625]	likely benign	21	33588546	33588546	Human		name
405287212	CV3205606	deletion	NM_017613.4(DONSON):c.607-31_607-27del	DONSON-related disorder [RCV003959743]	likely benign	21	33584795	33584799	Human		name , trait , alternate_id
597839887	CV3824956	deletion	NM_017613.4(DONSON):c.403-14_403-12del	not provided [RCV005171820]	likely benign	21	33586193	33586195	Human		name
150337844	CV1166605	deletion	NM_017613.4(DONSON):c.48del (p.Glu17fs)	Meier-Gorlin syndrome 1 [RCV001533010]\|not provided [RCV005094743]	pathogenic\|likely pathogenic	21	33588594	33588594	Human	1	name
150442506	CV1287735	single nucleotide variant	NM_017613.4(DONSON):c.105G>C (p.Pro35=)	not provided [RCV001725456]	benign	21	33588537	33588537	Human		name
151827545	CV1438686	duplication	NM_017613.4(DONSON):c.41dup (p.Pro15fs)	not provided [RCV001993382]	pathogenic	21	33588600	33588601	Human		name
152059300	CV1597549	single nucleotide variant	NM_017613.4(DONSON):c.264G>A (p.Arg88=)	not provided [RCV002128151]\|not specified [RCV005239275]	likely benign	21	33588378	33588378	Human		name
152105104	CV1633993	single nucleotide variant	NM_017613.4(DONSON):c.262C>A (p.Arg88=)	not provided [RCV002196046]	likely benign	21	33588380	33588380	Human		name
156346210	CV1958206	single nucleotide variant	NM_017613.4(DONSON):c.189C>T (p.Gly63=)	not provided [RCV002580774]	benign	21	33588453	33588453	Human		name
156413571	CV1979058	single nucleotide variant	NM_017613.4(DONSON):c.237C>T (p.Pro79=)	not provided [RCV002608881]	likely benign	21	33588405	33588405	Human		name
156245661	CV1992753	single nucleotide variant	NM_017613.4(DONSON):c.183G>C (p.Ala61=)	not provided [RCV002627284]	likely benign	21	33588459	33588459	Human		name
156146404	CV2002998	single nucleotide variant	NM_017613.4(DONSON):c.120G>A (p.Thr40=)	not provided [RCV002663753]	likely benign	21	33588522	33588522	Human		name
156041739	CV2026413	single nucleotide variant	NM_017613.4(DONSON):c.105G>T (p.Pro35=)	not provided [RCV002736211]	likely benign	21	33588537	33588537	Human		name
156155498	CV2049280	single nucleotide variant	NM_017613.4(DONSON):c.174C>T (p.Phe58=)	not provided [RCV002801438]	likely benign	21	33588468	33588468	Human		name
155928651	CV2067143	single nucleotide variant	NM_017613.4(DONSON):c.105G>A (p.Pro35=)	not provided [RCV002838651]	likely benign	21	33588537	33588537	Human		name
155953091	CV2076519	single nucleotide variant	NM_017613.4(DONSON):c.270C>T (p.Ala90=)	not provided [RCV002862452]	likely benign	21	33588372	33588372	Human		name
156148764	CV2154309	single nucleotide variant	NM_017613.4(DONSON):c.225T>G (p.Ala75=)	not provided [RCV003022778]	likely benign	21	33588417	33588417	Human		name
405243838	CV2971635	single nucleotide variant	NM_017613.4(DONSON):c.183G>A (p.Ala61=)	not provided [RCV003684620]	likely benign	21	33588459	33588459	Human		name
405068485	CV3030993	single nucleotide variant	NM_017613.4(DONSON):c.279C>T (p.Pro93=)	not provided [RCV003698177]	likely benign	21	33588363	33588363	Human		name
151802017	CV1351538	single nucleotide variant	NM_017613.4(DONSON):c.95C>G (p.Ala32Gly)	Inborn genetic diseases [RCV004976051]\|not provided [RCV001973993]	uncertain significance	21	33588547	33588547	Human	1	name
151808823	CV1483574	single nucleotide variant	NM_017613.4(DONSON):c.74G>A (p.Arg25Lys)	not provided [RCV001918402]	uncertain significance	21	33588568	33588568	Human		name
152168389	CV1525062	single nucleotide variant	NM_017613.4(DONSON):c.990A>C (p.Ile330=)	not provided [RCV002182428]	likely benign	21	33582221	33582221	Human		name
152060708	CV1540668	single nucleotide variant	NM_017613.4(DONSON):c.348T>C (p.Asp116=)	not provided [RCV002110077]	likely benign	21	33587576	33587576	Human		name
152114921	CV1637091	single nucleotide variant	NM_017613.4(DONSON):c.762G>A (p.Leu254=)	not provided [RCV002215998]	likely benign	21	33584613	33584613	Human		name
152028599	CV1642859	single nucleotide variant	NM_017613.4(DONSON):c.636T>C (p.Cys212=)	not provided [RCV002185890]	benign	21	33584739	33584739	Human		name
152134471	CV1646711	single nucleotide variant	NM_017613.4(DONSON):c.318C>A (p.Val106=)	not provided [RCV002137356]	likely benign	21	33588324	33588324	Human		name
156316680	CV1901272	single nucleotide variant	NM_017613.4(DONSON):c.798T>C (p.Phe266=)	not provided [RCV002578988]	likely benign	21	33583654	33583654	Human		name
155941093	CV1902017	single nucleotide variant	NM_017613.4(DONSON):c.354A>G (p.Leu118=)	not provided [RCV003073542]	likely benign	21	33587570	33587570	Human		name
156311543	CV1934326	single nucleotide variant	NM_017613.4(DONSON):c.810T>C (p.Tyr270=)	DONSON-related disorder [RCV003900871]\|not provided [RCV002629801]	likely benign	21	33583642	33583642	Human	1	name , trait , alternate_id
156445003	CV1949130	single nucleotide variant	NM_017613.4(DONSON):c.378A>G (p.Arg126=)	not provided [RCV003115937]	likely benign	21	33587546	33587546	Human		name
156219227	CV1955592	single nucleotide variant	NM_017613.4(DONSON):c.85C>T (p.Arg29Cys)	Inborn genetic diseases [RCV003250525]\|not provided [RCV002596391]	uncertain significance	21	33588557	33588557	Human	1	name
156148898	CV2003106	single nucleotide variant	NM_017613.4(DONSON):c.420C>T (p.Phe140=)	not provided [RCV002663830]	likely benign	21	33586164	33586164	Human		name
156233349	CV2021321	single nucleotide variant	NM_017613.4(DONSON):c.83G>T (p.Ser28Ile)	not provided [RCV002745391]	uncertain significance	21	33588559	33588559	Human		name
156026222	CV2025717	deletion	NM_017613.4(DONSON):c.1351-18_1351-16del	not provided [RCV002735609]	likely benign	21	33579578	33579580	Human		name
156042918	CV2049817	single nucleotide variant	NM_017613.4(DONSON):c.885A>G (p.Ala295=)	not provided [RCV002796503]	likely benign	21	33583567	33583567	Human		name
156293689	CV2073359	single nucleotide variant	NM_017613.4(DONSON):c.498C>T (p.Thr166=)	not provided [RCV002833308]	likely benign	21	33586086	33586086	Human		name
156285431	CV2134103	single nucleotide variant	NM_017613.4(DONSON):c.76G>T (p.Ala26Ser)	not provided [RCV003009751]	uncertain significance	21	33588566	33588566	Human		name
156221556	CV2168348	single nucleotide variant	NM_017613.4(DONSON):c.77C>T (p.Ala26Val)	not provided [RCV003042742]	uncertain significance	21	33588565	33588565	Human		name
401914585	CV2830756	single nucleotide variant	NM_017613.4(DONSON):c.64C>T (p.Arg22Ter)	not provided [RCV003442494]	likely pathogenic	21	33588578	33588578	Human		name
405207504	CV2994496	single nucleotide variant	NM_017613.4(DONSON):c.495C>T (p.Phe165=)	not provided [RCV003678882]	likely benign	21	33586089	33586089	Human		name
405183749	CV3124045	single nucleotide variant	NM_017613.4(DONSON):c.483G>A (p.Thr161=)	not provided [RCV003820241]	likely benign	21	33586101	33586101	Human		name
407506077	CV3434438	single nucleotide variant	NM_017613.4(DONSON):c.52G>A (p.Val18Ile)	Inborn genetic diseases [RCV004624587]	uncertain significance	21	33588590	33588590	Human	1	name
407506080	CV3434439	single nucleotide variant	NM_017613.4(DONSON):c.55G>C (p.Val19Leu)	Inborn genetic diseases [RCV004624588]	likely benign	21	33588587	33588587	Human	1	name
407506091	CV3434443	single nucleotide variant	NM_017613.4(DONSON):c.49G>A (p.Glu17Lys)	Inborn genetic diseases [RCV004624592]	uncertain significance	21	33588593	33588593	Human	1	name
407506093	CV3434444	single nucleotide variant	NM_017613.4(DONSON):c.89G>T (p.Gly30Val)	Inborn genetic diseases [RCV004624593]	uncertain significance	21	33588553	33588553	Human	1	name
597628406	CV3552491	single nucleotide variant	NM_017613.4(DONSON):c.70A>G (p.Lys24Glu)	Microcephaly, short stature, and limb abnormalities [RCV004821437]	uncertain significance	21	33588572	33588572	Human	1	name
597931315	CV3745946	single nucleotide variant	NM_017613.4(DONSON):c.732G>A (p.Lys244=)	not provided [RCV005075932]	likely benign	21	33584643	33584643	Human		name
597855181	CV3806218	single nucleotide variant	NM_017613.4(DONSON):c.558T>C (p.Leu186=)	not provided [RCV005145960]	likely benign	21	33586026	33586026	Human		name
598175991	CV3964614	single nucleotide variant	NM_017613.4(DONSON):c.44C>T (p.Pro15Leu)	Inborn genetic diseases [RCV005331933]	uncertain significance	21	33588598	33588598	Human	1	name
13529248	CV424962	single nucleotide variant	NM_017613.4(DONSON):c.82A>C (p.Ser28Arg)	Inborn genetic diseases [RCV000623846]\|Microcephaly, short stature, and limb abnormalities [RCV002470886]\|Microcephaly-micromelia syndrome [RCV000626267]\|not provided [RCV001856993]\|not specified [RCV004701562]	pathogenic\|benign\|likely benign\|uncertain significance	21	33588560	33588560	Human	3	name
151350138	CV1325532	single nucleotide variant	NM_017613.4(DONSON):c.1032C>T (p.Ser344=)	not provided [RCV001814819]	uncertain significance	21	33582179	33582179	Human		name
151847182	CV1461669	single nucleotide variant	NM_017613.4(DONSON):c.236C>G (p.Pro79Arg)	not provided [RCV001936865]	uncertain significance	21	33588406	33588406	Human		name
151877142	CV1479442	single nucleotide variant	NM_017613.4(DONSON):c.107C>T (p.Pro36Leu)	not provided [RCV001885996]	uncertain significance	21	33588535	33588535	Human		name
152163137	CV1648146	single nucleotide variant	NM_017613.4(DONSON):c.1059C>T (p.Ile353=)	not provided [RCV002123558]	likely benign	21	33582043	33582043	Human		name
156156614	CV1967669	single nucleotide variant	NM_017613.4(DONSON):c.254A>G (p.Asn85Ser)	not provided [RCV002594320]	uncertain significance	21	33588388	33588388	Human		name
156411347	CV1976244	single nucleotide variant	NM_017613.4(DONSON):c.119C>T (p.Thr40Met)	not provided [RCV002587461]	uncertain significance	21	33588523	33588523	Human		name
156160370	CV1984487	single nucleotide variant	NM_017613.4(DONSON):c.1509C>T (p.His503=)	not provided [RCV002642385]	likely benign	21	33579404	33579404	Human		name
156381344	CV1994760	single nucleotide variant	NM_017613.4(DONSON):c.112G>A (p.Glu38Lys)	not provided [RCV002653682]	uncertain significance	21	33588530	33588530	Human		name
156373929	CV2003775	single nucleotide variant	NM_017613.4(DONSON):c.295C>T (p.Arg99Cys)	not provided [RCV002653129]	uncertain significance	21	33588347	33588347	Human		name
156280371	CV2011687	single nucleotide variant	NM_017613.4(DONSON):c.1452G>A (p.Leu484=)	not provided [RCV002715278]	uncertain significance	21	33579461	33579461	Human		name
156033154	CV2127822	single nucleotide variant	NM_017613.4(DONSON):c.163C>G (p.Leu55Val)	not provided [RCV002923603]	uncertain significance	21	33588479	33588479	Human		name
156157085	CV2150864	single nucleotide variant	NM_017613.4(DONSON):c.139G>C (p.Ala47Pro)	not provided [RCV003023056]	uncertain significance	21	33588503	33588503	Human		name
156231602	CV2156935	single nucleotide variant	NM_017613.4(DONSON):c.1674A>G (p.Arg558=)	not provided [RCV003025665]	likely benign	21	33578334	33578334	Human		name
155974764	CV2211204	deletion	NM_017613.4(DONSON):c.916del (p.Leu306fs)	Inborn genetic diseases [RCV002687820]	pathogenic	21	33583536	33583536	Human	1	name
156192632	CV2255398	single nucleotide variant	NM_017613.4(DONSON):c.101C>T (p.Ser34Phe)	Inborn genetic diseases [RCV002802942]	uncertain significance	21	33588541	33588541	Human	1	name
401881575	CV2783883	single nucleotide variant	NM_017613.4(DONSON):c.104C>G (p.Pro35Arg)	Inborn genetic diseases [RCV003385404]	uncertain significance	21	33588538	33588538	Human	1	name
401930553	CV2824715	single nucleotide variant	NM_017613.4(DONSON):c.178G>C (p.Ala60Pro)	not provided [RCV003440550]	uncertain significance	21	33588464	33588464	Human		name
402490508	CV2867177	single nucleotide variant	NM_017613.4(DONSON):c.1671G>A (p.Leu557=)	not provided [RCV003544897]	likely benign	21	33578337	33578337	Human		name
405184671	CV2920478	single nucleotide variant	NM_017613.4(DONSON):c.1572T>C (p.Val524=)	not provided [RCV003564340]	likely benign	21	33578436	33578436	Human		name
405172437	CV2961386	single nucleotide variant	NM_017613.4(DONSON):c.1230A>G (p.Thr410=)	not provided [RCV003675479]	likely benign	21	33581422	33581422	Human		name
405118103	CV3115958	single nucleotide variant	NM_017613.4(DONSON):c.1341A>G (p.Gln447=)	not provided [RCV003814448]	likely benign	21	33581311	33581311	Human		name
405137377	CV3130632	single nucleotide variant	NM_017613.4(DONSON):c.1401A>G (p.Gln467=)	not provided [RCV003838865]	likely benign	21	33579512	33579512	Human		name
405131228	CV3133373	single nucleotide variant	NM_017613.4(DONSON):c.1056C>T (p.Ala352=)	not provided [RCV003838343]	likely benign	21	33582046	33582046	Human		name
405020382	CV3139141	single nucleotide variant	NM_017613.4(DONSON):c.1524A>T (p.Val508=)	DONSON-related disorder [RCV003956592]\|not provided [RCV003829783]	likely benign	21	33579389	33579389	Human	1	name , trait , alternate_id
405727556	CV3235280	deletion	NM_017613.4(DONSON):c.938del (p.Gly313fs)	Microcephaly, short stature, and limb abnormalities [RCV004018312]	likely pathogenic	21	33583514	33583514	Human	1	name
407506085	CV3434441	single nucleotide variant	NM_017613.4(DONSON):c.236C>T (p.Pro79Leu)	Inborn genetic diseases [RCV004624590]	uncertain significance	21	33588406	33588406	Human	1	name
407506096	CV3434445	single nucleotide variant	NM_017613.4(DONSON):c.293C>T (p.Ala98Val)	Inborn genetic diseases [RCV004624594]	uncertain significance	21	33588349	33588349	Human	1	name
597970018	CV3753469	single nucleotide variant	NM_017613.4(DONSON):c.170C>T (p.Pro57Leu)	not provided [RCV005083954]	uncertain significance	21	33588472	33588472	Human		name
597936983	CV3759874	single nucleotide variant	NM_017613.4(DONSON):c.1521T>C (p.Ala507=)	not provided [RCV005076796]	likely benign	21	33579392	33579392	Human		name
597845268	CV3761540	single nucleotide variant	NM_017613.4(DONSON):c.1498C>T (p.Leu500=)	not provided [RCV005087140]	likely benign	21	33579415	33579415	Human		name
597940846	CV3785656	single nucleotide variant	NM_017613.4(DONSON):c.1251C>T (p.Asn417=)	not provided [RCV005133548]	likely benign	21	33581401	33581401	Human		name
597946305	CV3841623	single nucleotide variant	NM_017613.4(DONSON):c.1635G>A (p.Pro545=)	not provided [RCV005189056]	likely benign	21	33578373	33578373	Human		name
15151998	CV742621	single nucleotide variant	NM_017613.4(DONSON):c.1371G>A (p.Lys457=)	not provided [RCV000901474]	benign	21	33579542	33579542	Human		name
126745904	CV1018748	single nucleotide variant	NM_017613.4(DONSON):c.642C>G (p.Phe214Leu)	Microcephaly, short stature, and limb abnormalities [RCV001330760]	uncertain significance	21	33584733	33584733	Human	1	name
126739789	CV1022040	single nucleotide variant	NM_017613.4(DONSON):c.919A>G (p.Ile307Val)	Microcephaly, short stature, and limb abnormalities [RCV001335839]\|not provided [RCV002546747]	uncertain significance	21	33583533	33583533	Human	1	name
127296168	CV1162254	single nucleotide variant	NM_017613.4(DONSON):c.631C>T (p.Arg211Cys)	Meier-Gorlin syndrome [RCV001527358]	pathogenic	21	33584744	33584744	Human	1	name
127296192	CV1162256	single nucleotide variant	NM_017613.4(DONSON):c.494T>C (p.Phe165Ser)	Meier-Gorlin syndrome [RCV001527367]\|Microcephaly, short stature, and limb abnormalities [RCV003314693]	pathogenic\|likely pathogenic	21	33586090	33586090	Human	2	name
150337845	CV1166606	single nucleotide variant	NM_017613.4(DONSON):c.631C>G (p.Arg211Gly)	Meier-Gorlin syndrome 1 [RCV001533011]	uncertain significance	21	33584744	33584744	Human	1	name
150467562	CV1269252	microsatellite	NM_017613.4(DONSON):c.1350+148_1350+151del	not provided [RCV001694660]	benign	21	33581151	33581154	Human		name
150548852	CV1294548	single nucleotide variant	NM_017613.4(DONSON):c.701G>A (p.Arg234His)	Inborn genetic diseases [RCV004980637]\|not provided [RCV001752040]	uncertain significance	21	33584674	33584674	Human	1	name
151797764	CV1376530	single nucleotide variant	NM_017613.4(DONSON):c.440C>T (p.Ser147Phe)	not provided [RCV001932021]	uncertain significance	21	33586144	33586144	Human		name
151846716	CV1386680	single nucleotide variant	NM_017613.4(DONSON):c.418T>C (p.Phe140Leu)	Inborn genetic diseases [RCV003365509]\|not provided [RCV001882040]	uncertain significance	21	33586166	33586166	Human	1	name
151769077	CV1388056	single nucleotide variant	NM_017613.4(DONSON):c.836C>T (p.Pro279Leu)	Inborn genetic diseases [RCV004042245]\|not provided [RCV001971002]	uncertain significance	21	33583616	33583616	Human	1	name
151889722	CV1398940	single nucleotide variant	NM_017613.4(DONSON):c.355T>C (p.Trp119Arg)	not provided [RCV001942866]	uncertain significance	21	33587569	33587569	Human		name
151771376	CV1404448	single nucleotide variant	NM_017613.4(DONSON):c.916C>T (p.Leu306Phe)	not provided [RCV002045278]	uncertain significance	21	33583536	33583536	Human		name
151720757	CV1420904	single nucleotide variant	NM_017613.4(DONSON):c.320C>A (p.Pro107Gln)	not provided [RCV002040042]	uncertain significance	21	33588322	33588322	Human		name
151766328	CV1496164	single nucleotide variant	NM_017613.4(DONSON):c.547G>T (p.Ala183Ser)	Inborn genetic diseases [RCV002547906]\|not provided [RCV001874008]\|not specified [RCV005238012]	likely benign\|uncertain significance	21	33586037	33586037	Human	1	name
151852833	CV1502001	single nucleotide variant	NM_017613.4(DONSON):c.322T>G (p.Phe108Val)	not provided [RCV001937585]	uncertain significance	21	33587602	33587602	Human		name
152068035	CV1547616	single nucleotide variant	NM_017613.4(DONSON):c.314C>G (p.Pro105Arg)	not provided [RCV002074716]	benign	21	33588328	33588328	Human		name
152147517	CV1618712	single nucleotide variant	NM_017613.4(DONSON):c.752A>G (p.Asp251Gly)	not provided [RCV002121279]	benign	21	33584623	33584623	Human		name
153001306	CV1679960	single nucleotide variant	NM_017613.4(DONSON):c.877C>T (p.Arg293Ter)	DONSON-related disorder [RCV003418422]\|not provided [RCV002251639]	pathogenic	21	33583575	33583575	Human	1	name , trait , alternate_id
156273472	CV1900074	single nucleotide variant	NM_017613.4(DONSON):c.892G>T (p.Ala298Ser)	not provided [RCV003086869]	uncertain significance	21	33583560	33583560	Human		name
156402807	CV1908173	single nucleotide variant	NM_017613.4(DONSON):c.734C>T (p.Thr245Ile)	not provided [RCV002585074]	uncertain significance	21	33584641	33584641	Human		name
156438358	CV1937100	single nucleotide variant	NM_017613.4(DONSON):c.352C>G (p.Leu118Val)	not provided [RCV003108298]	uncertain significance	21	33587572	33587572	Human		name
156438630	CV1947244	single nucleotide variant	NM_017613.4(DONSON):c.751G>A (p.Asp251Asn)	Inborn genetic diseases [RCV004244534]\|not provided [RCV003108576]	uncertain significance	21	33584624	33584624	Human	1	name
156241643	CV1953025	single nucleotide variant	NM_017613.4(DONSON):c.839A>G (p.Tyr280Cys)	not provided [RCV002576240]	uncertain significance	21	33583613	33583613	Human		name
156231187	CV1956007	single nucleotide variant	NM_017613.4(DONSON):c.651C>G (p.Ser217Arg)	not provided [RCV002575878]	uncertain significance	21	33584724	33584724	Human		name
156202765	CV1978465	single nucleotide variant	NM_017613.4(DONSON):c.661T>C (p.Trp221Arg)	not provided [RCV002625785]	uncertain significance	21	33584714	33584714	Human		name
156164055	CV1986053	duplication	NM_017613.4(DONSON):c.1142dup (p.Ile382fs)	not provided [RCV002642513]	pathogenic	21	33581959	33581960	Human		name
156401501	CV1989372	single nucleotide variant	NM_017613.4(DONSON):c.728G>A (p.Gly243Glu)	not provided [RCV002636014]	uncertain significance	21	33584647	33584647	Human		name
156266923	CV1993972	single nucleotide variant	NM_017613.4(DONSON):c.847G>A (p.Val283Ile)	Inborn genetic diseases [RCV002646404]\|not provided [RCV002646403]	uncertain significance	21	33583605	33583605	Human	1	name
156330894	CV2004388	single nucleotide variant	NM_017613.4(DONSON):c.921A>G (p.Ile307Met)	not provided [RCV002649812]	uncertain significance	21	33583531	33583531	Human		name
156089455	CV2017499	single nucleotide variant	NM_017613.4(DONSON):c.632G>A (p.Arg211His)	not provided [RCV002694890]	uncertain significance	21	33584743	33584743	Human		name
155919026	CV2027241	single nucleotide variant	NM_017613.4(DONSON):c.337C>G (p.Gln113Glu)	not provided [RCV002750617]	uncertain significance	21	33587587	33587587	Human		name
155944967	CV2039542	single nucleotide variant	NM_017613.4(DONSON):c.717A>C (p.Arg239Ser)	Inborn genetic diseases [RCV002775425]\|not provided [RCV002756778]	uncertain significance	21	33584658	33584658	Human	1	name
155907818	CV2044430	single nucleotide variant	NM_017613.4(DONSON):c.305C>T (p.Pro102Leu)	not provided [RCV002771363]	uncertain significance	21	33588337	33588337	Human		name
156155206	CV2049269	single nucleotide variant	NM_017613.4(DONSON):c.655A>G (p.Ile219Val)	Inborn genetic diseases [RCV004617098]\|not provided [RCV002801430]	likely benign\|uncertain significance	21	33584720	33584720	Human	1	name
156027307	CV2055905	single nucleotide variant	NM_017613.4(DONSON):c.332C>A (p.Ser111Tyr)	not provided [RCV002820906]	uncertain significance	21	33587592	33587592	Human		name
156230647	CV2115587	single nucleotide variant	NM_017613.4(DONSON):c.712G>A (p.Asp238Asn)	not provided [RCV002932816]	uncertain significance	21	33584663	33584663	Human		name
156279965	CV2137504	single nucleotide variant	NM_017613.4(DONSON):c.999T>A (p.Ser333Arg)	not provided [RCV003009563]	uncertain significance	21	33582212	33582212	Human		name
156251072	CV2157572	duplication	NM_017613.4(DONSON):c.1487dup (p.Ser497fs)	not provided [RCV003008444]	pathogenic	21	33579425	33579426	Human		name
156168011	CV2169746	deletion	NM_017613.4(DONSON):c.1324del (p.Arg442fs)	not provided [RCV003023427]	pathogenic	21	33581328	33581328	Human		name
156115709	CV2209024	single nucleotide variant	NM_017613.4(DONSON):c.485G>A (p.Arg162Gln)	Inborn genetic diseases [RCV002707498]\|not provided [RCV004725575]	uncertain significance	21	33586099	33586099	Human	1	name
156036298	CV2249887	single nucleotide variant	NM_017613.4(DONSON):c.659A>G (p.Tyr220Cys)	Inborn genetic diseases [RCV002821418]	uncertain significance	21	33584716	33584716	Human	1	name
156188176	CV2258364	single nucleotide variant	NM_017613.4(DONSON):c.481A>C (p.Thr161Pro)	Inborn genetic diseases [RCV002802683]	uncertain significance	21	33586103	33586103	Human	1	name
243058568	CV2412306	single nucleotide variant	NM_017613.4(DONSON):c.664C>G (p.Leu222Val)	Inborn genetic diseases [RCV003164861]\|not provided [RCV003146848]	uncertain significance	21	33584711	33584711	Human	1	name
329389357	CV2444985	single nucleotide variant	NM_017613.4(DONSON):c.724G>A (p.Ala242Thr)	Inborn genetic diseases [RCV003191081]	likely benign	21	33584651	33584651	Human	1	name
401772293	CV2687477	single nucleotide variant	NM_017613.4(DONSON):c.956G>C (p.Arg319Thr)	Inborn genetic diseases [RCV003284993]	uncertain significance	21	33583496	33583496	Human	1	name
401828570	CV2742933	single nucleotide variant	NM_017613.4(DONSON):c.979C>G (p.Leu327Val)	not provided [RCV003325641]	uncertain significance	21	33582232	33582232	Human		name
402512350	CV2991257	single nucleotide variant	NM_017613.4(DONSON):c.744G>A (p.Trp248Ter)	not provided [RCV003689658]	pathogenic	21	33584631	33584631	Human		name
405764563	CV3238014	single nucleotide variant	NM_017613.4(DONSON):c.320C>G (p.Pro107Arg)	Inborn genetic diseases [RCV004384060]	uncertain significance	21	33588322	33588322	Human	1	name
405764567	CV3238015	single nucleotide variant	NM_017613.4(DONSON):c.404C>G (p.Thr135Ser)	Inborn genetic diseases [RCV004384061]	uncertain significance	21	33586180	33586180	Human	1	name
405764573	CV3238016	single nucleotide variant	NM_017613.4(DONSON):c.481A>T (p.Thr161Ser)	Inborn genetic diseases [RCV004384062]	uncertain significance	21	33586103	33586103	Human	1	name
405764591	CV3238019	single nucleotide variant	NM_017613.4(DONSON):c.938G>A (p.Gly313Asp)	Inborn genetic diseases [RCV004384065]	uncertain significance	21	33583514	33583514	Human	1	name
405855225	CV3393987	deletion	NM_017613.4(DONSON):c.1342del (p.Met448fs)	Microcephaly, short stature, and limb abnormalities [RCV004547213]	likely pathogenic	21	33581310	33581310	Human	1	name
407506074	CV3434437	single nucleotide variant	NM_017613.4(DONSON):c.569G>A (p.Cys190Tyr)	Inborn genetic diseases [RCV004624586]	uncertain significance	21	33586015	33586015	Human	1	name
596944782	CV3543229	single nucleotide variant	NM_017613.4(DONSON):c.763C>T (p.Gln255Ter)	Microcephaly [RCV004799101]	likely pathogenic	21	33584612	33584612	Human	2	name
597954581	CV3754078	single nucleotide variant	NM_017613.4(DONSON):c.482C>T (p.Thr161Met)	not provided [RCV005080121]	uncertain significance	21	33586102	33586102	Human		name
597945929	CV3777205	single nucleotide variant	NM_017613.4(DONSON):c.484C>T (p.Arg162Ter)	not provided [RCV005119844]	pathogenic	21	33586100	33586100	Human		name
597847626	CV3792831	deletion	NM_017613.4(DONSON):c.1411del (p.Glu471fs)	not provided [RCV005144967]	pathogenic	21	33579502	33579502	Human		name
598200642	CV3892685	single nucleotide variant	NM_017613.4(DONSON):c.878G>C (p.Arg293Pro)	not provided [RCV005254518]	uncertain significance	21	33583574	33583574	Human		name
598218807	CV3895562	single nucleotide variant	NM_017613.4(DONSON):c.301C>T (p.Gln101Ter)	Microcephaly-micromelia syndrome [RCV005360413]	likely pathogenic	21	33588341	33588341	Human	1	name
13210842	CV424943	single nucleotide variant	NM_017613.4(DONSON):c.876C>G (p.Phe292Leu)	Microcephaly, short stature, and limb abnormalities [RCV000496973]	pathogenic\|likely pathogenic	21	33583576	33583576	Human	1	name
13508888	CV481361	single nucleotide variant	NM_017613.4(DONSON):c.683G>A (p.Trp228Ter)	Microcephaly, short stature, and limb abnormalities [RCV000578432]	pathogenic	21	33584692	33584692	Human	1	name
126763168	CV999978	single nucleotide variant	NM_017613.4(DONSON):c.809A>G (p.Tyr270Cys)	DONSON-related Meier-Gorlin syndrome [RCV001310229]\|Meier-Gorlin syndrome [RCV001527360]\|not provided [RCV003718402]	pathogenic\|uncertain significance	21	33583643	33583643	Human	1	name , trait
126763167	CV999979	single nucleotide variant	NM_017613.4(DONSON):c.670C>T (p.Pro224Ser)	DONSON-related Meier-Gorlin syndrome [RCV001310228]\|Meier-Gorlin syndrome [RCV001527377]\|Microcephaly, short stature, and limb abnormalities [RCV004594271]\|not provided [RCV003718401]	pathogenic\|likely pathogenic\|uncertain significance	21	33584705	33584705	Human	2	name , trait
127267081	CV1064889	single nucleotide variant	NM_017613.4(DONSON):c.1324C>T (p.Arg442Ter)	Inborn genetic diseases [RCV002550264]\|not provided [RCV001381847]	pathogenic	21	33581328	33581328	Human	1	name
127296170	CV1162253	single nucleotide variant	NM_017613.4(DONSON):c.1634C>T (p.Pro545Leu)	Meier-Gorlin syndrome [RCV001527359]	pathogenic	21	33578374	33578374	Human	1	name
151879031	CV1359804	single nucleotide variant	NM_017613.4(DONSON):c.1340A>G (p.Gln447Arg)	Inborn genetic diseases [RCV002551227]\|not provided [RCV002036614]	uncertain significance	21	33581312	33581312	Human	1	name
151762579	CV1372085	single nucleotide variant	NM_017613.4(DONSON):c.1658G>A (p.Arg553Gln)	Inborn genetic diseases [RCV002562857]\|not provided [RCV001987449]	uncertain significance	21	33578350	33578350	Human	1	name
151816425	CV1378946	single nucleotide variant	NM_017613.4(DONSON):c.1031G>C (p.Ser344Thr)	not provided [RCV001900456]	uncertain significance	21	33582180	33582180	Human		name
151743680	CV1404524	single nucleotide variant	NM_017613.4(DONSON):c.1154G>A (p.Arg385His)	Inborn genetic diseases [RCV002657687]\|not provided [RCV002022580]	uncertain significance	21	33581498	33581498	Human	1	name
151773582	CV1424047	single nucleotide variant	NM_017613.4(DONSON):c.1480G>A (p.Gly494Arg)	not provided [RCV002045480]	uncertain significance	21	33579433	33579433	Human		name
151749464	CV1431175	single nucleotide variant	NM_017613.4(DONSON):c.1135A>G (p.Ile379Val)	not provided [RCV001912831]	uncertain significance	21	33581967	33581967	Human		name
151726166	CV1433440	single nucleotide variant	NM_017613.4(DONSON):c.1048G>C (p.Glu350Gln)	not provided [RCV001983705]	uncertain significance	21	33582054	33582054	Human		name
151786889	CV1513684	single nucleotide variant	NM_017613.4(DONSON):c.1433C>T (p.Pro478Leu)	not provided [RCV001916417]	pathogenic	21	33579480	33579480	Human		name
151830612	CV1516425	single nucleotide variant	NM_017613.4(DONSON):c.1444C>T (p.His482Tyr)	not provided [RCV002030766]	uncertain significance	21	33579469	33579469	Human		name
152131789	CV1621213	single nucleotide variant	NM_017613.4(DONSON):c.1546G>C (p.Asp516His)	not provided [RCV002218170]	likely benign	21	33579367	33579367	Human		name
152034058	CV1621462	single nucleotide variant	NM_017613.4(DONSON):c.1388G>T (p.Gly463Val)	DONSON-related disorder [RCV003968800]\|not provided [RCV002205284]	benign	21	33579525	33579525	Human	1	name , trait , alternate_id
156335444	CV1988236	single nucleotide variant	NM_017613.4(DONSON):c.1354C>T (p.Arg452Trp)	not provided [RCV002631159]	uncertain significance	21	33579559	33579559	Human		name
155907240	CV2017361	single nucleotide variant	NM_017613.4(DONSON):c.1592G>C (p.Cys531Ser)	not provided [RCV002681468]	uncertain significance	21	33578416	33578416	Human		name
156299323	CV2104847	single nucleotide variant	NM_017613.4(DONSON):c.1355G>T (p.Arg452Leu)	not provided [RCV002922498]	uncertain significance	21	33579558	33579558	Human		name
156143676	CV2113266	single nucleotide variant	NM_017613.4(DONSON):c.1670T>G (p.Leu557Arg)	Inborn genetic diseases [RCV003170620]\|not provided [RCV002914999]	uncertain significance	21	33578338	33578338	Human	1	name
156035629	CV2123245	single nucleotide variant	NM_017613.4(DONSON):c.1286C>A (p.Ala429Glu)	Inborn genetic diseases [RCV003348959]\|not provided [RCV002949416]	uncertain significance	21	33581366	33581366	Human	1	name
156054896	CV2243138	single nucleotide variant	NM_017613.4(DONSON):c.1562T>A (p.Met521Lys)	Inborn genetic diseases [RCV002782239]	likely benign	21	33579351	33579351	Human	1	name
156334632	CV2263378	single nucleotide variant	NM_017613.4(DONSON):c.1456A>G (p.Met486Val)	Inborn genetic diseases [RCV002835599]	uncertain significance	21	33579457	33579457	Human	1	name
156256900	CV2277614	single nucleotide variant	NM_017613.4(DONSON):c.1144A>G (p.Ile382Val)	Inborn genetic diseases [RCV002855169]	uncertain significance	21	33581958	33581958	Human	1	name
405132408	CV2901682	single nucleotide variant	NM_017613.4(DONSON):c.1510G>A (p.Glu504Lys)	not provided [RCV003560152]	uncertain significance	21	33579403	33579403	Human		name
405093330	CV3022604	single nucleotide variant	NM_017613.4(DONSON):c.1373C>G (p.Thr458Arg)	not provided [RCV003699891]	uncertain significance	21	33579540	33579540	Human		name
405050595	CV3025546	single nucleotide variant	NM_017613.4(DONSON):c.1390T>C (p.Tyr464His)	not provided [RCV003696954]	uncertain significance	21	33579523	33579523	Human		name
405260453	CV3204113	single nucleotide variant	NM_017613.4(DONSON):c.1657C>T (p.Arg553Trp)	DONSON-related disorder [RCV003943983]	uncertain significance	21	33578351	33578351	Human		name , trait , alternate_id
405764557	CV3238013	single nucleotide variant	NM_017613.4(DONSON):c.1228A>G (p.Thr410Ala)	Inborn genetic diseases [RCV004384059]	uncertain significance	21	33581424	33581424	Human	1	name
407506072	CV3434436	single nucleotide variant	NM_017613.4(DONSON):c.1201G>A (p.Val401Met)	Inborn genetic diseases [RCV004624585]	uncertain significance	21	33581451	33581451	Human	1	name
407506081	CV3434440	single nucleotide variant	NM_017613.4(DONSON):c.1310C>A (p.Ser437Tyr)	Inborn genetic diseases [RCV004624589]	uncertain significance	21	33581342	33581342	Human	1	name
597650396	CV3666833	single nucleotide variant	NM_017613.4(DONSON):c.1102A>C (p.Met368Leu)	Inborn genetic diseases [RCV004974526]	uncertain significance	21	33582000	33582000	Human	1	name
597650404	CV3666834	single nucleotide variant	NM_017613.4(DONSON):c.1018G>A (p.Ala340Thr)	Inborn genetic diseases [RCV004974527]	uncertain significance	21	33582193	33582193	Human	1	name
597945917	CV3755463	single nucleotide variant	NM_017613.4(DONSON):c.1502A>G (p.Tyr501Cys)	not provided [RCV005078472]	benign	21	33579411	33579411	Human		name
598175985	CV3964613	single nucleotide variant	NM_017613.4(DONSON):c.1564G>A (p.Glu522Lys)	Inborn genetic diseases [RCV005331932]	uncertain significance	21	33578444	33578444	Human	1	name
13211081	CV424938	single nucleotide variant	NM_017613.4(DONSON):c.1337T>C (p.Met446Thr)	Microcephaly, short stature, and limb abnormalities [RCV000496967]	pathogenic	21	33581315	33581315	Human	1	name
13210841	CV424942	single nucleotide variant	NM_017613.4(DONSON):c.1282C>T (p.Gln428Ter)	Inborn genetic diseases [RCV002524063]\|Microcephaly, short stature, and limb abnormalities [RCV000496972]\|Microcephaly-micromelia syndrome [RCV001839008]\|not provided [RCV005091053]	pathogenic\|likely pathogenic	21	33581370	33581370	Human	3	name
13508761	CV424961	single nucleotide variant	NM_017613.4(DONSON):c.1466A>C (p.Lys489Thr)	DONSON-related disorder [RCV003925429]\|Inborn genetic diseases [RCV000623226]\|Microcephaly [RCV004798838]\|Microcephaly, short stature, and limb abnormalities [RCV000578322]\|Microcephaly-micromelia syndrome [RCV000660883]\|Microcephaly-micromelia syndrome [RCV0053 ... (more) 56002]\|See cases [RCV001420293]\|not provided [RCV000880181]\|not specified [RCV004701561]	pathogenic\|likely pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	21	33579447	33579447	Human	5	name , trait , alternate_id
13533010	CV512484	duplication	NM_017613.4(DONSON):c.1254dup (p.Lys419Ter)	Inborn genetic diseases [RCV000624778]\|Microcephaly, short stature, and limb abnormalities [RCV002226718]\|not provided [RCV002532841]	pathogenic\|likely pathogenic	21	33581397	33581398	Human	2	name
15177948	CV705665	single nucleotide variant	NM_017613.4(DONSON):c.1586C>T (p.Thr529Ile)	DONSON-related disorder [RCV003925937]\|not provided [RCV000951159]	likely benign	21	33578422	33578422	Human	2	name , trait , alternate_id
15177948	CV705665	single nucleotide variant	NM_017613.4(DONSON):c.1586C>T (p.Thr529Ile)	DONSON-related disorder [RCV003925937]\|not provided [RCV000951159]	likely benign	21	33578422	33578423	Human	2	name , trait , alternate_id
15166727	CV728883	single nucleotide variant	NM_017613.4(DONSON):c.1615G>A (p.Glu539Lys)	DONSON-related disorder [RCV003940460]\|not provided [RCV000882693]	likely benign	21	33578393	33578393	Human	1	name , trait , alternate_id
15200778	CV728884	single nucleotide variant	NM_017613.4(DONSON):c.1411G>A (p.Glu471Lys)	DONSON-related disorder [RCV003940681]\|not provided [RCV000891005]	likely benign\|conflicting interpretations of pathogenicity	21	33579502	33579502	Human	1	name , trait , alternate_id
15201940	CV757783	single nucleotide variant	NM_017613.4(DONSON):c.1466A>G (p.Lys489Arg)	DONSON-related disorder [RCV003902919]\|not provided [RCV000913292]	benign	21	33579447	33579447	Human	1	name , trait , alternate_id
39456716	CV966013	single nucleotide variant	NM_017613.4(DONSON):c.1146C>G (p.Ile382Met)	Microcephaly, short stature, and limb abnormalities [RCV001255798]	likely benign	21	33581956	33581956	Human	1	name
401724019	CV2737938	duplication	NM_017613.4(DONSON):c.129_144dup (p.Leu49fs)	Microcephaly, short stature, and limb abnormalities [RCV003315110]	pathogenic	21	33588497	33588498	Human	1	name
596944725	CV3543230	deletion	NM_017613.4(DONSON):c.671_681del (p.Pro224fs)	Microcephaly [RCV004799102]	pathogenic	21	33584694	33584704	Human	2	name
597936143	CV3764789	insertion	NM_017613.4(DONSON):c.995_996insT (p.Glu332fs)	not provided [RCV005117488]	pathogenic	21	33582215	33582216	Human		name
127230428	CV1087101	duplication	NM_017613.4(DONSON):c.1086_1087dup (p.Ser363fs)	See cases [RCV001420322]	pathogenic	21	33582014	33582015	Human		name
151867233	CV1381691	microsatellite	NM_017613.4(DONSON):c.1367_1368del (p.Val456fs)	not provided [RCV001939308]	pathogenic	21	33579545	33579546	Human		name
151876331	CV1490051	deletion	NM_017613.4(DONSON):c.1588_1591del (p.Asn530fs)	not provided [RCV001940440]	uncertain significance	21	33578417	33578420	Human		name
156261212	CV1996732	deletion	NM_017613.4(DONSON):c.1313_1314del (p.Pro438fs)	not provided [RCV002627771]	pathogenic	21	33581338	33581339	Human		name
405201086	CV3041205	microsatellite	NM_017613.4(DONSON):c.1375_1376del (p.Gln459fs)	not provided [RCV003707370]	pathogenic	21	33579537	33579538	Human		name
407574639	CV3499650	microsatellite	NM_017613.4(DONSON):c.1474_1475del (p.Gln492fs)	not provided [RCV004720143]	pathogenic\|likely pathogenic	21	33579438	33579439	Human		name
597932482	CV3780761	microsatellite	NM_017613.4(DONSON):c.1490_1491del (p.Ser497fs)	not provided [RCV005116873]	pathogenic	21	33579422	33579423	Human		name
156418269	CV1914651	insertion	NM_017613.4(DONSON):c.1350+4_1350+5insATGCAAATGC	not provided [RCV002611449]	uncertain significance	21	33581297	33581298	Human		name
13211082	CV424941	deletion	NM_017613.4(DONSON):c.1251_1256del (p.Asn417_Ser418del)	Microcephaly, short stature, and limb abnormalities [RCV000496969]	pathogenic	21	33581396	33581401	Human	1	name
405182056	CV2956370	microsatellite	NM_017613.4(DONSON):c.1253_1254del (p.Asn417_Ser418insTer)	not provided [RCV003676295]	pathogenic	21	33581398	33581399	Human		name

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