Pus7 Variant Search Result - Rat Genome Database

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181 records found for search term Pus7

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
405275827	CV3199454	single nucleotide variant	NM_019042.5(PUS7):c.*5T>C	PUS7-related disorder [RCV003916858]	benign	7	105457785	105457785	Human		name , trait , alternate_id
150534243	CV1293399	deletion	NM_019042.5(PUS7):c.921-5del	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature [RCV001794516]\|not provided [RCV001756620]	benign	7	105482445	105482445	Human	1	name
155265152	CV1695886	single nucleotide variant	NM_019042.5(PUS7):c.920+5G>A	not provided [RCV002280072]	uncertain significance	7	105491535	105491535	Human		name
329847909	CV2524604	single nucleotide variant	NM_019042.5(PUS7):c.843-1G>A	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature [RCV003227535]	likely pathogenic	7	105491618	105491618	Human	1	name
405292440	CV3192445	duplication	NM_019042.5(PUS7):c.921-5dup	PUS7-related disorder [RCV003929710]	benign	7	105482444	105482445	Human		name , trait , alternate_id
21069290	CV792612	single nucleotide variant	NM_019042.5(PUS7):c.398+1G>T	Inborn genetic diseases [RCV001266255]\|Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature [RCV000991203]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	7	105508114	105508114	Human	2	name
21069597	CV795947	single nucleotide variant	NM_019042.5(PUS7):c.483+1G>A	not provided [RCV000998888]	likely pathogenic	7	105506188	105506188	Human		name
151235272	CV1318541	single nucleotide variant	NM_019042.5(PUS7):c.842+44A>G	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature [RCV001794863]\|not provided [RCV004713103]	benign	7	105495098	105495098	Human	1	name
151235273	CV1318542	single nucleotide variant	NM_019042.5(PUS7):c.585+43G>C	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature [RCV001794864]\|not provided [RCV004713104]	benign	7	105505912	105505912	Human	1	name
151235274	CV1318543	duplication	NM_019042.5(PUS7):c.483+42dup	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature [RCV001794865]	benign	7	105506146	105506147	Human	1	name
405261665	CV3205211	single nucleotide variant	NM_019042.5(PUS7):c.1050-7C>G	PUS7-related disorder [RCV003944604]	benign	7	105481184	105481184	Human		name , trait , alternate_id
596924700	CV3532362	single nucleotide variant	NM_019042.5(PUS7):c.1850-1G>A	not provided [RCV004777473]	uncertain significance	7	105457927	105457927	Human		name
616938234	CV4013095	single nucleotide variant	NM_019042.5(PUS7):c.1399-1G>C	not provided [RCV005410562]	pathogenic	7	105468464	105468464	Human		name
405294699	CV3215665	deletion	NM_019042.5(PUS7):c.921-7_921-5del	PUS7-related disorder [RCV003934617]	likely benign	7	105482445	105482447	Human		name , trait , alternate_id
405278926	CV3220483	deletion	NM_019042.5(PUS7):c.921-6_921-5del	PUS7-related disorder [RCV003976675]	likely benign	7	105482445	105482446	Human		name , trait , alternate_id
401908974	CV2823088	single nucleotide variant	NM_019042.5(PUS7):c.31C>T (p.Leu11=)	not provided [RCV003423739]	likely benign	7	105508482	105508482	Human		name
152103492	CV1667461	single nucleotide variant	NM_019042.5(PUS7):c.171C>T (p.Asp57=)	not provided [RCV002214448]	likely benign	7	105508342	105508342	Human		name
401908973	CV2823087	single nucleotide variant	NM_019042.5(PUS7):c.213A>C (p.Gly71=)	not provided [RCV003423738]	likely benign	7	105508300	105508300	Human		name
405290768	CV3207620	single nucleotide variant	NM_019042.5(PUS7):c.165T>C (p.Ser55=)	PUS7-related disorder [RCV003927187]	likely benign	7	105508348	105508348	Human		name , trait , alternate_id
153305246	CV1687636	single nucleotide variant	NM_019042.5(PUS7):c.411C>T (p.Phe137=)	not provided [RCV002263457]	likely benign	7	105506261	105506261	Human		name
156254235	CV2325614	single nucleotide variant	NM_019042.5(PUS7):c.61A>G (p.Asn21Asp)	Inborn genetic diseases [RCV002959357]	uncertain significance	7	105508452	105508452	Human	1	name
401908971	CV2823086	single nucleotide variant	NM_019042.5(PUS7):c.330T>C (p.Thr110=)	not provided [RCV003423737]	likely benign	7	105508183	105508183	Human		name
405290525	CV3207544	single nucleotide variant	NM_019042.5(PUS7):c.816T>C (p.Ala272=)	PUS7-related disorder [RCV003927121]	likely benign	7	105495168	105495168	Human		name , trait , alternate_id
156400179	CV2199019	single nucleotide variant	NM_019042.5(PUS7):c.227C>G (p.Ala76Gly)	Inborn genetic diseases [RCV002656385]	uncertain significance	7	105508286	105508286	Human	1	name
156052348	CV2363401	single nucleotide variant	NM_019042.5(PUS7):c.140T>G (p.Leu47Arg)	Inborn genetic diseases [RCV002692923]	uncertain significance	7	105508373	105508373	Human	1	name
156258774	CV2395419	single nucleotide variant	NM_019042.5(PUS7):c.125A>G (p.Lys42Arg)	Inborn genetic diseases [RCV002769317]	uncertain significance	7	105508388	105508388	Human	1	name
243063809	CV2405325	deletion	NM_019042.5(PUS7):c.303del (p.Phe101fs)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature [RCV003142404]	likely pathogenic	7	105508210	105508210	Human	1	name
401738557	CV2676320	single nucleotide variant	NM_019042.5(PUS7):c.151T>C (p.Phe51Leu)	Inborn genetic diseases [RCV003240205]	uncertain significance	7	105508362	105508362	Human	1	name
401773134	CV2709141	single nucleotide variant	NM_019042.5(PUS7):c.136G>A (p.Gly46Arg)	Inborn genetic diseases [RCV003262094]	uncertain significance	7	105508377	105508377	Human	1	name
401830071	CV2744025	single nucleotide variant	NM_019042.5(PUS7):c.277T>C (p.Cys93Arg)	PUS7-related disorder [RCV003919056]\|not provided [RCV003327271]	likely benign	7	105508236	105508236	Human	1	name , trait , alternate_id
401922709	CV2823085	single nucleotide variant	NM_019042.5(PUS7):c.1008A>G (p.Lys336=)	not provided [RCV003434082]	likely benign	7	105482353	105482353	Human		name
405276291	CV3198480	single nucleotide variant	NM_019042.5(PUS7):c.1314A>G (p.Leu438=)	PUS7-related disorder [RCV003903814]	benign	7	105470772	105470772	Human		name , trait , alternate_id
405658504	CV3311695	single nucleotide variant	NM_019042.5(PUS7):c.116G>T (p.Ser39Ile)	Inborn genetic diseases [RCV004438207]	uncertain significance	7	105508397	105508397	Human	1	name
405658514	CV3311698	single nucleotide variant	NM_019042.5(PUS7):c.265C>A (p.Leu89Ile)	Inborn genetic diseases [RCV004438210]	uncertain significance	7	105508248	105508248	Human	1	name
597706501	CV3582339	single nucleotide variant	NM_019042.5(PUS7):c.132A>C (p.Gln44His)	Inborn genetic diseases [RCV004957385]	uncertain significance	7	105508381	105508381	Human	1	name
597706507	CV3582341	single nucleotide variant	NM_019042.5(PUS7):c.219T>G (p.Asn73Lys)	Inborn genetic diseases [RCV004957386]	uncertain significance	7	105508294	105508294	Human	1	name
597706569	CV3582350	single nucleotide variant	NM_019042.5(PUS7):c.198T>G (p.Ser66Arg)	Inborn genetic diseases [RCV004957395]	uncertain significance	7	105508315	105508315	Human	1	name
598251063	CV3901921	single nucleotide variant	NM_019042.5(PUS7):c.172G>A (p.Val58Met)	Inborn genetic diseases [RCV005259161]	uncertain significance	7	105508341	105508341	Human	1	name
15145812	CV710683	single nucleotide variant	NM_019042.5(PUS7):c.1389A>G (p.Ala463=)	PUS7-related disorder [RCV003916227]\|not provided [RCV000967062]	benign	7	105470697	105470697	Human	1	name , trait , alternate_id
15190473	CV722224	single nucleotide variant	NM_019042.5(PUS7):c.1155C>A (p.Val385=)	PUS7-related disorder [RCV003930710]\|not provided [RCV000888108]	likely benign	7	105481072	105481072	Human	1	name , trait , alternate_id
127230374	CV1087052	deletion	NM_019042.5(PUS7):c.1774del (p.Asp592fs)	See cases [RCV001420277]	pathogenic	7	105459243	105459243	Human		name
150416702	CV1193859	single nucleotide variant	NM_019042.5(PUS7):c.406G>A (p.Asp136Asn)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature [RCV001773772]\|not provided [RCV001568459]	uncertain significance	7	105506266	105506266	Human	1	name
150531118	CV1299301	single nucleotide variant	NM_019042.5(PUS7):c.761G>A (p.Arg254Lys)	not provided [RCV001756994]	uncertain significance	7	105495223	105495223	Human		name
151234510	CV1320284	single nucleotide variant	NM_019042.5(PUS7):c.310A>G (p.Met104Val)	not provided [RCV001799908]	uncertain significance	7	105508203	105508203	Human		name
155266227	CV1699669	single nucleotide variant	NM_019042.5(PUS7):c.788A>C (p.Tyr263Ser)	not specified [RCV002281769]	uncertain significance	7	105495196	105495196	Human		name
155796544	CV1862912	single nucleotide variant	NM_019042.5(PUS7):c.805A>G (p.Thr269Ala)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature [RCV002470186]	uncertain significance	7	105495179	105495179	Human	1	name
156205245	CV2297861	single nucleotide variant	NM_019042.5(PUS7):c.733C>T (p.Pro245Ser)	Inborn genetic diseases [RCV002875095]	uncertain significance	7	105495251	105495251	Human	1	name
155973594	CV2321084	single nucleotide variant	NM_019042.5(PUS7):c.741A>C (p.Lys247Asn)	Inborn genetic diseases [RCV002907150]	uncertain significance	7	105495243	105495243	Human	1	name
156063463	CV2349608	single nucleotide variant	NM_019042.5(PUS7):c.538G>A (p.Glu180Lys)	Inborn genetic diseases [RCV003000322]\|PUS7-related disorder [RCV003906611]\|not provided [RCV003427651]	likely benign	7	105506002	105506002	Human	2	name , trait , alternate_id
155998552	CV2373309	single nucleotide variant	NM_019042.5(PUS7):c.499A>G (p.Ile167Val)	Inborn genetic diseases [RCV002689845]	likely benign	7	105506041	105506041	Human	1	name
156042374	CV2381451	single nucleotide variant	NM_019042.5(PUS7):c.689A>G (p.Tyr230Cys)	Inborn genetic diseases [RCV002704443]	uncertain significance	7	105502461	105502461	Human	1	name
329363424	CV2471597	single nucleotide variant	NM_019042.5(PUS7):c.383G>C (p.Gly128Ala)	Inborn genetic diseases [RCV003206408]	uncertain significance	7	105508130	105508130	Human	1	name
401752490	CV2682837	single nucleotide variant	NM_019042.5(PUS7):c.403T>G (p.Ser135Ala)	Inborn genetic diseases [RCV003254349]\|Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature [RCV004763629]	pathogenic\|uncertain significance	7	105506269	105506269	Human	2	name
401742508	CV2697794	single nucleotide variant	NM_019042.5(PUS7):c.494A>G (p.Glu165Gly)	Inborn genetic diseases [RCV003274847]	uncertain significance	7	105506046	105506046	Human	1	name
401752076	CV2714025	single nucleotide variant	NM_019042.5(PUS7):c.781G>T (p.Val261Leu)	Inborn genetic diseases [RCV003277237]	uncertain significance	7	105495203	105495203	Human	1	name
405281538	CV3191587	single nucleotide variant	NM_019042.5(PUS7):c.367C>T (p.His123Tyr)	PUS7-related disorder [RCV003907315]	benign	7	105508146	105508146	Human		name , trait , alternate_id
405658518	CV3311699	single nucleotide variant	NM_019042.5(PUS7):c.488C>T (p.Pro163Leu)	Inborn genetic diseases [RCV004438211]	uncertain significance	7	105506052	105506052	Human	1	name
405658521	CV3311700	single nucleotide variant	NM_019042.5(PUS7):c.514A>G (p.Thr172Ala)	Inborn genetic diseases [RCV004438212]	uncertain significance	7	105506026	105506026	Human	1	name
405658525	CV3311701	single nucleotide variant	NM_019042.5(PUS7):c.533G>T (p.Arg178Leu)	Inborn genetic diseases [RCV004438213]	uncertain significance	7	105506007	105506007	Human	1	name
405658529	CV3311702	single nucleotide variant	NM_019042.5(PUS7):c.706G>A (p.Ala236Thr)	Inborn genetic diseases [RCV004438214]	uncertain significance	7	105502444	105502444	Human	1	name
405658532	CV3311703	single nucleotide variant	NM_019042.5(PUS7):c.779T>G (p.Phe260Cys)	Inborn genetic diseases [RCV004438215]	uncertain significance	7	105495205	105495205	Human	1	name
405658537	CV3311704	single nucleotide variant	NM_019042.5(PUS7):c.963G>A (p.Met321Ile)	Inborn genetic diseases [RCV004438216]	uncertain significance	7	105482398	105482398	Human	1	name
407490804	CV3416871	single nucleotide variant	NM_019042.5(PUS7):c.532C>T (p.Arg178Ter)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature [RCV004666699]	pathogenic	7	105506008	105506008	Human	1	name
408393972	CV3526307	single nucleotide variant	NM_019042.5(PUS7):c.702C>A (p.Tyr234Ter)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature [RCV004771739]	likely pathogenic	7	105502448	105502448	Human	1	name
597706517	CV3582342	single nucleotide variant	NM_019042.5(PUS7):c.716A>G (p.Lys239Arg)	Inborn genetic diseases [RCV004957387]	uncertain significance	7	105502434	105502434	Human	1	name
597706545	CV3582346	single nucleotide variant	NM_019042.5(PUS7):c.898G>T (p.Val300Phe)	Inborn genetic diseases [RCV004957391]	uncertain significance	7	105491562	105491562	Human	1	name
597706551	CV3582347	single nucleotide variant	NM_019042.5(PUS7):c.850C>G (p.Pro284Ala)	Inborn genetic diseases [RCV004957392]	uncertain significance	7	105491610	105491610	Human	1	name
597706563	CV3582349	single nucleotide variant	NM_019042.5(PUS7):c.802G>A (p.Asp268Asn)	Inborn genetic diseases [RCV004957394]	uncertain significance	7	105495182	105495182	Human	1	name
598234414	CV3893606	single nucleotide variant	NM_019042.5(PUS7):c.980A>T (p.Asn327Ile)	not provided [RCV005256339]	uncertain significance	7	105482381	105482381	Human		name
598251067	CV3901922	single nucleotide variant	NM_019042.5(PUS7):c.736A>G (p.Arg246Gly)	Inborn genetic diseases [RCV005259162]	uncertain significance	7	105495248	105495248	Human	1	name
14394957	CV610628	deletion	NM_019042.5(PUS7):c.89_90del (p.Thr30fs)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature [RCV000758215]	pathogenic	7	105508423	105508424	Human	1	name
126739107	CV1016823	single nucleotide variant	NM_019042.5(PUS7):c.1121A>T (p.Tyr374Phe)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature [RCV001329105]	uncertain significance	7	105481106	105481106	Human	1	name
151234471	CV1320276	single nucleotide variant	NM_019042.5(PUS7):c.1935G>A (p.Met645Ile)	not provided [RCV001799899]	uncertain significance	7	105457841	105457841	Human		name
156123278	CV2233981	single nucleotide variant	NM_019042.5(PUS7):c.1316C>T (p.Pro439Leu)	Inborn genetic diseases [RCV002762443]	uncertain significance	7	105470770	105470770	Human	1	name
156187558	CV2258286	single nucleotide variant	NM_019042.5(PUS7):c.1073A>G (p.Gln358Arg)	Inborn genetic diseases [RCV002802648]	uncertain significance	7	105481154	105481154	Human	1	name
156145915	CV2265086	single nucleotide variant	NM_019042.5(PUS7):c.1467C>A (p.Ser489Arg)	Inborn genetic diseases [RCV002826490]	uncertain significance	7	105468395	105468395	Human	1	name
155955752	CV2303946	single nucleotide variant	NM_019042.5(PUS7):c.1199C>T (p.Thr400Ile)	Inborn genetic diseases [RCV002905539]	uncertain significance	7	105472170	105472170	Human	1	name
156345065	CV2382063	single nucleotide variant	NM_019042.5(PUS7):c.1263C>G (p.Cys421Trp)	Inborn genetic diseases [RCV002719609]	uncertain significance	7	105470823	105470823	Human	1	name
156221333	CV2394403	single nucleotide variant	NM_019042.5(PUS7):c.1982G>A (p.Arg661His)	Inborn genetic diseases [RCV002744752]	uncertain significance	7	105457794	105457794	Human	1	name
243052017	CV2405301	single nucleotide variant	NM_019042.5(PUS7):c.1196G>A (p.Trp399Ter)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature [RCV003130938]	likely pathogenic	7	105472173	105472173	Human	1	name
329364925	CV2444041	single nucleotide variant	NM_019042.5(PUS7):c.1769C>T (p.Ala590Val)	Inborn genetic diseases [RCV003207014]	uncertain significance	7	105459248	105459248	Human	1	name
401766142	CV2679583	single nucleotide variant	NM_019042.5(PUS7):c.1958C>T (p.Thr653Met)	Inborn genetic diseases [RCV003259383]	uncertain significance	7	105457818	105457818	Human	1	name
401772875	CV2698014	single nucleotide variant	NM_019042.5(PUS7):c.1481A>G (p.Asp494Gly)	Inborn genetic diseases [RCV003285200]	uncertain significance	7	105468381	105468381	Human	1	name
401798696	CV2739442	single nucleotide variant	NM_019042.5(PUS7):c.1597G>A (p.Gly533Ser)	not provided [RCV003319090]	uncertain significance	7	105465343	105465343	Human		name
405692264	CV3227523	single nucleotide variant	NM_019042.5(PUS7):c.1984T>C (p.Ter662Arg)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature [RCV003991868]	uncertain significance	7	105457792	105457792	Human	1	name
405658501	CV3311694	single nucleotide variant	NM_019042.5(PUS7):c.1106T>C (p.Ile369Thr)	Inborn genetic diseases [RCV004438206]	uncertain significance	7	105481121	105481121	Human	1	name
405658511	CV3311697	single nucleotide variant	NM_019042.5(PUS7):c.1651C>A (p.Leu551Ile)	Inborn genetic diseases [RCV004438209]	uncertain significance	7	105462727	105462727	Human	1	name
407426714	CV3411514	single nucleotide variant	NM_019042.5(PUS7):c.1631A>G (p.Gln544Arg)	not provided [RCV004590692]	uncertain significance	7	105462747	105462747	Human		name
407490801	CV3416870	single nucleotide variant	NM_019042.5(PUS7):c.1121A>C (p.Tyr374Ser)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature [RCV004666698]	likely pathogenic	7	105481106	105481106	Human	1	name
407473464	CV3464785	single nucleotide variant	NM_019042.5(PUS7):c.1420A>G (p.Met474Val)	Inborn genetic diseases [RCV004662755]	uncertain significance	7	105468442	105468442	Human	1	name
407473468	CV3464786	single nucleotide variant	NM_019042.5(PUS7):c.1405A>G (p.Arg469Gly)	Inborn genetic diseases [RCV004662756]	uncertain significance	7	105468457	105468457	Human	1	name
597706523	CV3582343	single nucleotide variant	NM_019042.5(PUS7):c.1807G>A (p.Val603Met)	Inborn genetic diseases [RCV004957388]	uncertain significance	7	105459210	105459210	Human	1	name
597706528	CV3582344	single nucleotide variant	NM_019042.5(PUS7):c.1153G>A (p.Val385Ile)	Inborn genetic diseases [RCV004957389]	uncertain significance	7	105481074	105481074	Human	1	name
597706536	CV3582345	single nucleotide variant	NM_019042.5(PUS7):c.1834C>T (p.Pro612Ser)	Inborn genetic diseases [RCV004957390]	uncertain significance	7	105459183	105459183	Human	1	name
597706555	CV3582348	single nucleotide variant	NM_019042.5(PUS7):c.1501C>A (p.Pro501Thr)	Inborn genetic diseases [RCV004957393]	uncertain significance	7	105468361	105468361	Human	1	name
598251058	CV3901920	single nucleotide variant	NM_019042.5(PUS7):c.1084G>A (p.Ala362Thr)	Inborn genetic diseases [RCV005259160]	uncertain significance	7	105481143	105481143	Human	1	name
598251072	CV3901923	single nucleotide variant	NM_019042.5(PUS7):c.1906A>G (p.Thr636Ala)	Inborn genetic diseases [RCV005259163]	uncertain significance	7	105457870	105457870	Human	1	name
598251074	CV3901924	single nucleotide variant	NM_019042.5(PUS7):c.1461G>A (p.Met487Ile)	Inborn genetic diseases [RCV005259164]	uncertain significance	7	105468401	105468401	Human	1	name
598251084	CV3901926	single nucleotide variant	NM_019042.5(PUS7):c.1544A>T (p.Glu515Val)	Inborn genetic diseases [RCV005259166]	uncertain significance	7	105465396	105465396	Human	1	name
616938603	CV4015067	single nucleotide variant	NM_019042.5(PUS7):c.1597G>C (p.Gly533Arg)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature [RCV005412084]	uncertain significance	7	105465343	105465343	Human	1	name
616938605	CV4015068	single nucleotide variant	NM_019042.5(PUS7):c.1589C>T (p.Pro530Leu)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature [RCV005412085]	uncertain significance	7	105465351	105465351	Human	1	name
14394956	CV610629	single nucleotide variant	NM_019042.5(PUS7):c.1348C>T (p.Arg450Ter)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature [RCV000758216]	pathogenic	7	105470738	105470738	Human	1	name
14394954	CV610631	single nucleotide variant	NM_019042.5(PUS7):c.1507G>T (p.Asp503Tyr)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature [RCV000758218]\|not provided [RCV001855904]	pathogenic\|likely pathogenic	7	105468355	105468355	Human	1	name
21069288	CV792602	single nucleotide variant	NM_019042.5(PUS7):c.1160C>T (p.Thr387Met)	Inborn genetic diseases [RCV001266254]\|Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature [RCV000991202]\|not provided [RCV002279966]	likely pathogenic\|uncertain significance	7	105481067	105481067	Human	2	name
21074844	CV798580	deletion	NM_019042.5(PUS7):c.99_100del (p.Lys34fs)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature [RCV000995625]	likely pathogenic	7	105508413	105508414	Human	1	name
127243922	CV1053756	microsatellite	NM_019042.5(PUS7):c.640_641del (p.Leu214fs)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature [RCV001375942]	likely pathogenic	7	105502509	105502510	Human		name
127243924	CV1053757	microsatellite	NM_019042.5(PUS7):c.298_299del (p.Ser100fs)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature [RCV001375943]	likely pathogenic	7	105508214	105508215	Human		name
152103487	CV1667460	duplication	NM_019042.5(PUS7):c.965_966dup (p.Phe323fs)	not provided [RCV002214447]	pathogenic	7	105482394	105482395	Human		name
155924230	CV2212653	deletion	NM_019042.5(PUS7):c.393_397del (p.Glu132fs)	Inborn genetic diseases [RCV002727863]\|Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature [RCV005254723]	pathogenic	7	105508116	105508120	Human	2	name
14394953	CV610632	deletion	NM_019042.5(PUS7):c.329_332del (p.Thr110fs)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature [RCV000758219]	pathogenic	7	105508181	105508184	Human	1	name
150338663	CV1174290	microsatellite	NM_019042.5(PUS7):c.1385_1386del (p.Ser462fs)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature [RCV001542759]	likely pathogenic	7	105470700	105470701	Human		name
155798949	CV1859354	microsatellite	NM_019042.5(PUS7):c.1097_1098del (p.Leu366fs)	Pervasive developmental disorder [RCV002464982]	pathogenic\|likely pathogenic	7	105481129	105481130	Human		name
14394955	CV610630	deletion	NM_019042.4(PUS7):c.(1757+1_1758-1)_(1848+1_1849-1)del	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature [RCV000758217]	pathogenic				Human	1	name
408394190	CV3521780	deletion	NM_019042.5(PUS7):c.329_331del (p.Thr110_Glu111delinsLys)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature [RCV004764579]	uncertain significance	7	105508182	105508184	Human	1	name
597763565	CV3582355	single nucleotide variant	NM_031292.5(PUS7L):c.41T>C (p.Leu14Ser)	not specified [RCV004849568]	uncertain significance	12	43755205	43755205	Human		name
597763569	CV3582356	single nucleotide variant	NM_031292.5(PUS7L):c.68T>C (p.Phe23Ser)	not specified [RCV004849569]	uncertain significance	12	43755178	43755178	Human		name
597763576	CV3582358	single nucleotide variant	NM_031292.5(PUS7L):c.86G>C (p.Ser29Thr)	not specified [RCV004849571]	uncertain significance	12	43755160	43755160	Human		name
155925171	CV2211758	single nucleotide variant	NM_031292.5(PUS7L):c.273G>C (p.Leu91Phe)	not specified [RCV004086599]	uncertain significance	12	43754973	43754973	Human		name
156044675	CV2268545	single nucleotide variant	NM_031292.5(PUS7L):c.232C>G (p.Leu78Val)	not specified [RCV004123966]	uncertain significance	12	43755014	43755014	Human		name
155968409	CV2339310	single nucleotide variant	NM_031292.5(PUS7L):c.151G>A (p.Asp51Asn)	not specified [RCV004191543]	likely benign	12	43755095	43755095	Human		name
156383548	CV2361598	single nucleotide variant	NM_031292.5(PUS7L):c.141T>G (p.Asn47Lys)	not specified [RCV004221224]	uncertain significance	12	43755105	43755105	Human		name
329357189	CV2431272	single nucleotide variant	NM_031292.5(PUS7L):c.250A>G (p.Arg84Gly)	not specified [RCV004250606]	uncertain significance	12	43754996	43754996	Human		name
329386908	CV2452672	single nucleotide variant	NM_031292.5(PUS7L):c.160A>T (p.Ile54Phe)	not specified [RCV004275235]	uncertain significance	12	43755086	43755086	Human		name
401737330	CV2699728	single nucleotide variant	NM_031292.5(PUS7L):c.251G>A (p.Arg84Lys)	not specified [RCV004308068]	uncertain significance	12	43754995	43754995	Human		name
401717638	CV2703941	single nucleotide variant	NM_031292.5(PUS7L):c.107T>C (p.Val36Ala)	not specified [RCV004308839]	uncertain significance	12	43755139	43755139	Human		name
405658540	CV3311705	single nucleotide variant	NM_031292.5(PUS7L):c.106G>A (p.Val36Ile)	not specified [RCV004438217]	uncertain significance	12	43755140	43755140	Human		name
407473475	CV3464789	single nucleotide variant	NM_031292.5(PUS7L):c.128G>T (p.Gly43Val)	not specified [RCV004662758]	uncertain significance	12	43755118	43755118	Human		name
156132463	CV2206607	single nucleotide variant	NM_031292.5(PUS7L):c.985C>T (p.Pro329Ser)	not specified [RCV004080949]	uncertain significance	12	43748535	43748535	Human		name
156375598	CV2210243	single nucleotide variant	NM_031292.5(PUS7L):c.859C>T (p.Arg287Cys)	not specified [RCV004089409]	uncertain significance	12	43754387	43754387	Human		name
156333979	CV2230848	single nucleotide variant	NM_031292.5(PUS7L):c.332T>C (p.Ile111Thr)	not specified [RCV004092329]	uncertain significance	12	43754914	43754914	Human		name
156044693	CV2268546	single nucleotide variant	NM_031292.5(PUS7L):c.786T>G (p.Phe262Leu)	not specified [RCV004123967]	uncertain significance	12	43754460	43754460	Human		name
156253354	CV2284044	single nucleotide variant	NM_031292.5(PUS7L):c.766C>T (p.Leu256Phe)	not specified [RCV004144651]	uncertain significance	12	43754480	43754480	Human		name
156144629	CV2292284	single nucleotide variant	NM_031292.5(PUS7L):c.356A>G (p.Glu119Gly)	not specified [RCV004148317]	uncertain significance	12	43754890	43754890	Human		name
156204319	CV2314128	single nucleotide variant	NM_031292.5(PUS7L):c.490G>A (p.Gly164Ser)	not specified [RCV004166217]	uncertain significance	12	43754756	43754756	Human		name
156058658	CV2316909	single nucleotide variant	NM_031292.5(PUS7L):c.673A>G (p.Lys225Glu)	not specified [RCV004174426]	uncertain significance	12	43754573	43754573	Human		name
156048772	CV2336469	single nucleotide variant	NM_031292.5(PUS7L):c.518C>A (p.Ala173Asp)	not specified [RCV004194681]	uncertain significance	12	43754728	43754728	Human		name
156064331	CV2340753	single nucleotide variant	NM_031292.5(PUS7L):c.923G>T (p.Arg308Leu)	not specified [RCV004188115]	uncertain significance	12	43748597	43748597	Human		name
155938424	CV2380744	single nucleotide variant	NM_031292.5(PUS7L):c.815C>T (p.Pro272Leu)	not specified [RCV004218313]	uncertain significance	12	43754431	43754431	Human		name
156250198	CV2394183	single nucleotide variant	NM_031292.5(PUS7L):c.334G>A (p.Val112Ile)	not specified [RCV004236377]	uncertain significance	12	43754912	43754912	Human		name
401757965	CV2708058	single nucleotide variant	NM_031292.5(PUS7L):c.707A>T (p.Asp236Val)	not specified [RCV004309301]	uncertain significance	12	43754539	43754539	Human		name
401874613	CV2781074	single nucleotide variant	NM_031292.5(PUS7L):c.965C>G (p.Ala322Gly)	not specified [RCV004358453]	uncertain significance	12	43748555	43748555	Human		name
405658550	CV3311709	single nucleotide variant	NM_031292.5(PUS7L):c.325G>A (p.Asp109Asn)	not specified [RCV004438221]	uncertain significance	12	43754921	43754921	Human		name
405658552	CV3311710	single nucleotide variant	NM_031292.5(PUS7L):c.404A>C (p.Glu135Ala)	not specified [RCV004438222]	uncertain significance	12	43754842	43754842	Human		name
405658555	CV3311711	single nucleotide variant	NM_031292.5(PUS7L):c.517G>A (p.Ala173Thr)	not specified [RCV004438223]	uncertain significance	12	43754729	43754729	Human		name
405658558	CV3311712	single nucleotide variant	NM_031292.5(PUS7L):c.542A>G (p.Gln181Arg)	not specified [RCV004438224]	uncertain significance	12	43754704	43754704	Human		name
405658561	CV3311713	single nucleotide variant	NM_031292.5(PUS7L):c.833T>G (p.Val278Gly)	not specified [RCV004438225]	uncertain significance	12	43754413	43754413	Human		name
407499246	CV3464787	single nucleotide variant	NM_031292.5(PUS7L):c.386T>C (p.Leu129Ser)	not specified [RCV004669294]	uncertain significance	12	43754860	43754860	Human		name
598251086	CV3901927	single nucleotide variant	NM_031292.5(PUS7L):c.967A>G (p.Ile323Val)	not specified [RCV005259167]	uncertain significance	12	43748553	43748553	Human		name
598251091	CV3901928	single nucleotide variant	NM_031292.5(PUS7L):c.772G>A (p.Glu258Lys)	not specified [RCV005259168]	uncertain significance	12	43754474	43754474	Human		name
598251114	CV3901933	single nucleotide variant	NM_031292.5(PUS7L):c.373T>G (p.Leu125Val)	not specified [RCV005259173]	uncertain significance	12	43754873	43754873	Human		name
156331480	CV2218168	single nucleotide variant	NM_031292.5(PUS7L):c.1649A>G (p.Tyr550Cys)	not specified [RCV004086589]	uncertain significance	12	43736457	43736457	Human		name
156233657	CV2227783	single nucleotide variant	NM_031292.5(PUS7L):c.2044G>A (p.Asp682Asn)	not specified [RCV004094165]	uncertain significance	12	43730438	43730438	Human		name
156301854	CV2241685	single nucleotide variant	NM_031292.5(PUS7L):c.1269A>T (p.Lys423Asn)	not specified [RCV004106630]	uncertain significance	12	43742550	43742550	Human		name
156054043	CV2243034	single nucleotide variant	NM_031292.5(PUS7L):c.1517A>C (p.His506Pro)	not specified [RCV004109953]	uncertain significance	12	43736589	43736589	Human		name
156266221	CV2247140	single nucleotide variant	NM_031292.5(PUS7L):c.1922A>G (p.Tyr641Cys)	not specified [RCV004114671]	uncertain significance	12	43730560	43730560	Human		name
156097656	CV2253207	single nucleotide variant	NM_031292.5(PUS7L):c.1636A>G (p.Arg546Gly)	not specified [RCV004599489]	uncertain significance	12	43736470	43736470	Human		name
155958692	CV2282239	single nucleotide variant	NM_031292.5(PUS7L):c.2047C>T (p.Leu683Phe)	not specified [RCV004132814]	uncertain significance	12	43730435	43730435	Human		name
155952627	CV2306157	single nucleotide variant	NM_031292.5(PUS7L):c.1291C>T (p.Pro431Ser)	not specified [RCV004162907]	uncertain significance	12	43742528	43742528	Human		name
156173025	CV2317080	single nucleotide variant	NM_031292.5(PUS7L):c.1576A>G (p.Met526Val)	not specified [RCV004174565]	uncertain significance	12	43736530	43736530	Human		name
155979079	CV2335286	single nucleotide variant	NM_031292.5(PUS7L):c.1453A>G (p.Lys485Glu)	not specified [RCV004186852]	uncertain significance	12	43736653	43736653	Human		name
155975030	CV2342621	single nucleotide variant	NM_031292.5(PUS7L):c.1777C>G (p.Gln593Glu)	not specified [RCV004196709]	uncertain significance	12	43731707	43731707	Human		name
156074788	CV2365551	single nucleotide variant	NM_031292.5(PUS7L):c.1578G>A (p.Met526Ile)	not specified [RCV004211665]	uncertain significance	12	43736528	43736528	Human		name
156172205	CV2380788	single nucleotide variant	NM_031292.5(PUS7L):c.1829T>A (p.Val610Glu)	not specified [RCV004218350]	uncertain significance	12	43730653	43730653	Human		name
156082557	CV2384863	single nucleotide variant	NM_031292.5(PUS7L):c.1891C>T (p.Pro631Ser)	not specified [RCV004225741]	uncertain significance	12	43730591	43730591	Human		name
329373245	CV2434157	single nucleotide variant	NM_031292.5(PUS7L):c.1540G>A (p.Gly514Ser)	not specified [RCV004250053]	uncertain significance	12	43736566	43736566	Human		name
329376537	CV2472142	single nucleotide variant	NM_031292.5(PUS7L):c.1283A>T (p.Tyr428Phe)	not specified [RCV004283270]	uncertain significance	12	43742536	43742536	Human		name
401731589	CV2712056	single nucleotide variant	NM_031292.5(PUS7L):c.1721G>A (p.Ser574Asn)	not specified [RCV004311796]	uncertain significance	12	43736385	43736385	Human		name
401900089	CV2780392	single nucleotide variant	NM_031292.5(PUS7L):c.1519C>T (p.Arg507Cys)	not specified [RCV004357790]	uncertain significance	12	43736587	43736587	Human		name
405658543	CV3311706	single nucleotide variant	NM_031292.5(PUS7L):c.1097A>T (p.Glu366Val)	not specified [RCV004438218]	uncertain significance	12	43746212	43746212	Human		name
405658547	CV3311708	single nucleotide variant	NM_031292.5(PUS7L):c.1939C>T (p.His647Tyr)	not specified [RCV004438220]	uncertain significance	12	43730543	43730543	Human		name
407473471	CV3464788	single nucleotide variant	NM_031292.5(PUS7L):c.1584A>G (p.Ile528Met)	not specified [RCV004662757]	uncertain significance	12	43736522	43736522	Human		name
597763553	CV3582352	single nucleotide variant	NM_031292.5(PUS7L):c.1631C>T (p.Ser544Phe)	not specified [RCV004849565]	uncertain significance	12	43736475	43736475	Human		name
597763557	CV3582353	single nucleotide variant	NM_031292.5(PUS7L):c.2101G>A (p.Val701Ile)	not specified [RCV004849566]	uncertain significance	12	43730381	43730381	Human		name
597763561	CV3582354	single nucleotide variant	NM_031292.5(PUS7L):c.1412T>C (p.Val471Ala)	not specified [RCV004849567]	uncertain significance	12	43738342	43738342	Human		name
597763572	CV3582357	single nucleotide variant	NM_031292.5(PUS7L):c.1235G>T (p.Arg412Ile)	not specified [RCV004849570]	uncertain significance	12	43746074	43746074	Human		name
597763580	CV3582359	single nucleotide variant	NM_031292.5(PUS7L):c.1430A>G (p.Tyr477Cys)	not specified [RCV004849572]	uncertain significance	12	43738324	43738324	Human		name
597763588	CV3582361	single nucleotide variant	NM_031292.5(PUS7L):c.1312A>T (p.Arg438Trp)	not specified [RCV004849574]	uncertain significance	12	43742507	43742507	Human		name
598251095	CV3901929	single nucleotide variant	NM_031292.5(PUS7L):c.1577T>C (p.Met526Thr)	not specified [RCV005259169]	uncertain significance	12	43736529	43736529	Human		name
598251100	CV3901930	single nucleotide variant	NM_031292.5(PUS7L):c.1279A>G (p.Asn427Asp)	not specified [RCV005259170]	uncertain significance	12	43742540	43742540	Human		name
598251109	CV3901932	single nucleotide variant	NM_031292.5(PUS7L):c.1810C>G (p.Gln604Glu)	not specified [RCV005259172]	uncertain significance	12	43730672	43730672	Human		name
598251118	CV3901934	single nucleotide variant	NM_031292.5(PUS7L):c.1996A>G (p.Lys666Glu)	not specified [RCV005259174]	likely benign	12	43730486	43730486	Human		name

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