Cript Variant Search Result - Rat Genome Database

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137 records found for search term Cript

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
156385969	CV1891794	single nucleotide variant	NM_014171.6(CRIPT):c.83-1G>A	not provided [RCV003067558]	likely pathogenic	2	46619626	46619626	Human		name
156289060	CV2050321	single nucleotide variant	NM_014171.6(CRIPT):c.82+1G>A	not provided [RCV002807267]	likely pathogenic	2	46618839	46618839	Human		name
405131895	CV2953729	duplication	NM_014171.6(CRIPT):c.83-4dup	not provided [RCV003672396]	likely benign	2	46619622	46619623	Human		name
150484717	CV1250081	single nucleotide variant	NM_014171.6(CRIPT):c.17-63A>G	not provided [RCV001673694]	benign	2	46618710	46618710	Human		name
156349046	CV2069321	single nucleotide variant	NM_014171.6(CRIPT):c.138-9A>C	not provided [RCV002811642]	likely benign	2	46623755	46623755	Human		name
156098963	CV2163593	single nucleotide variant	NM_014171.6(CRIPT):c.17-15A>G	not provided [RCV003038506]	likely benign	2	46618758	46618758	Human		name
405040401	CV3067861	single nucleotide variant	NM_014171.6(CRIPT):c.241+9C>T	not provided [RCV003739802]	likely benign	2	46623876	46623876	Human		name
405180919	CV3119799	single nucleotide variant	NM_014171.6(CRIPT):c.138-4C>G	not provided [RCV003819892]	likely benign	2	46623760	46623760	Human		name
597923954	CV3777968	single nucleotide variant	NM_014171.6(CRIPT):c.137+9G>C	not provided [RCV005130692]	likely benign	2	46619690	46619690	Human		name
597961612	CV3812190	single nucleotide variant	NM_014171.6(CRIPT):c.82+16G>C	not provided [RCV005163843]	likely benign	2	46618854	46618854	Human		name
597957132	CV3818148	single nucleotide variant	NM_014171.6(CRIPT):c.17-20T>C	not provided [RCV005162599]	likely benign	2	46618753	46618753	Human		name
15165988	CV743879	single nucleotide variant	NM_014171.6(CRIPT):c.241+7T>C	not provided [RCV000904344]	likely benign	2	46623874	46623874	Human		name
15161003	CV743940	single nucleotide variant	NM_014171.6(CRIPT):c.138-4C>A	not provided [RCV000903260]	likely benign	2	46623760	46623760	Human		name
15195422	CV777292	deletion	NM_014171.6(CRIPT):c.138-5del	CRIPT-related disorder [RCV004754647]\|not provided [RCV000955919]\|not specified [RCV001819001]	benign	2	46623757	46623757	Human	1	name , trait , alternate_id
126744663	CV1016077	single nucleotide variant	NM_014171.6(CRIPT):c.242-19A>T	Rothmund-Thomson syndrome, type 3 [RCV001330488]	uncertain significance	2	46624144	46624144	Human	1	name
150336479	CV1170971	single nucleotide variant	NM_014171.6(CRIPT):c.241+20G>A	not provided [RCV001541007]	benign	2	46623887	46623887	Human		name
150476139	CV1216768	single nucleotide variant	NM_014171.6(CRIPT):c.16+220C>G	not provided [RCV001616061]	benign	2	46617518	46617518	Human		name
150471659	CV1253394	single nucleotide variant	NM_014171.6(CRIPT):c.16+179T>C	not provided [RCV001671307]	benign	2	46617477	46617477	Human		name
152073992	CV1660561	single nucleotide variant	NM_014171.6(CRIPT):c.241+19C>T	not provided [RCV002169660]	benign	2	46623886	46623886	Human		name
156027439	CV2025784	single nucleotide variant	NM_014171.6(CRIPT):c.137+20G>A	not provided [RCV002735660]	benign	2	46619701	46619701	Human		name
156059921	CV2098438	single nucleotide variant	NM_014171.6(CRIPT):c.138-16T>G	not provided [RCV002886472]	likely benign	2	46623748	46623748	Human		name
155997528	CV2105756	single nucleotide variant	NM_014171.6(CRIPT):c.242-11T>A	not provided [RCV002947629]	uncertain significance	2	46624152	46624152	Human		name
156368213	CV2160212	single nucleotide variant	NM_014171.6(CRIPT):c.138-15A>G	not provided [RCV003032032]	likely benign	2	46623749	46623749	Human		name
405177570	CV2864675	single nucleotide variant	NM_014171.6(CRIPT):c.138-12A>C	not provided [RCV003542775]	likely benign	2	46623752	46623752	Human		name
150437555	CV1220739	single nucleotide variant	NM_014171.6(CRIPT):c.138-332G>A	not provided [RCV001609724]	benign	2	46623432	46623432	Human		name
150447433	CV1261818	single nucleotide variant	NM_014171.6(CRIPT):c.242-119T>A	not provided [RCV001680202]	benign	2	46624044	46624044	Human		name
150470667	CV1269893	single nucleotide variant	NM_014171.6(CRIPT):c.242-120T>A	not provided [RCV001695180]	benign	2	46624043	46624043	Human		name
405075870	CV3034717	deletion	NM_014171.6(CRIPT):c.83-10_83-5del	not provided [RCV003698538]	likely benign	2	46619615	46619620	Human		name
11542135	CV223357	deletion	NM_014171.5(CRIPT):c.-422_17-582del	Rothmund-Thomson syndrome, type 3 [RCV000240818]	pathogenic	2	46616861	46618191	Human	1	name
152067609	CV1566898	deletion	NM_014171.6(CRIPT):c.138-11_138-8del	not provided [RCV002091142]	likely benign	2	46623749	46623752	Human		name
156193352	CV1901808	single nucleotide variant	NM_014171.6(CRIPT):c.87T>C (p.Ser29=)	not provided [RCV002595449]	benign	2	46619631	46619631	Human		name
156119911	CV2115902	single nucleotide variant	NM_014171.6(CRIPT):c.78C>T (p.Thr26=)	not provided [RCV002927771]	likely benign	2	46618834	46618834	Human		name
155994625	CV2147863	microsatellite	NM_014171.6(CRIPT):c.242-12_242-10del	not provided [RCV003016993]	uncertain significance	2	46624147	46624149	Human		name
11542139	CV223356	single nucleotide variant	NM_014171.6(CRIPT):c.8G>A (p.Cys3Tyr)	Rothmund-Thomson syndrome, type 3 [RCV000240836]	likely pathogenic	2	46617290	46617290	Human	1	name
405250266	CV2997340	deletion	NM_014171.6(CRIPT):c.242-15_242-14del	not provided [RCV003721575]	likely benign	2	46624147	46624148	Human		name
405124354	CV3021006	single nucleotide variant	NM_014171.6(CRIPT):c.69T>C (p.Ala23=)	not provided [RCV003700981]	likely benign	2	46618825	46618825	Human		name
155266189	CV1334982	microsatellite	NM_014171.6(CRIPT):c.7_8del (p.Cys3fs)	Rothmund-Thomson syndrome, type 3 [RCV002281649]	pathogenic	2	46617286	46617287	Human		name
156051160	CV1974374	single nucleotide variant	NM_014171.6(CRIPT):c.252G>A (p.Ala84=)	not provided [RCV002590665]	likely benign	2	46624173	46624173	Human		name
156215669	CV2110938	single nucleotide variant	NM_014171.6(CRIPT):c.168C>T (p.Ser56=)	not provided [RCV002932249]	likely benign	2	46623794	46623794	Human		name
156309442	CV2123325	single nucleotide variant	NM_014171.6(CRIPT):c.216C>T (p.Tyr72=)	not provided [RCV002962533]	likely benign	2	46623842	46623842	Human		name
156199820	CV2187156	single nucleotide variant	NM_014171.6(CRIPT):c.297A>G (p.Thr99=)	not provided [RCV003058122]	likely benign	2	46624218	46624218	Human		name
405867532	CV2842258	single nucleotide variant	NM_014171.6(CRIPT):c.13A>G (p.Lys5Glu)	EBV-positive nodal T- and NK-cell lymphoma [RCV004560207]	likely benign	2	46617295	46617295	Human		name
408365964	CV3513116	single nucleotide variant	NM_014171.6(CRIPT):c.297A>T (p.Thr99=)	CRIPT-related disorder [RCV004755463]	likely benign	2	46624218	46624218	Human		name , trait , alternate_id
597921253	CV3839420	single nucleotide variant	NM_014171.6(CRIPT):c.135A>C (p.Ala45=)	not provided [RCV005184352]	likely benign	2	46619679	46619679	Human		name
15159165	CV747660	single nucleotide variant	NM_014171.6(CRIPT):c.228T>C (p.Cys76=)	not provided [RCV000925224]	likely benign	2	46623854	46623854	Human		name
8658702	CV132706	deletion	NM_014171.6(CRIPT):c.141del (p.Phe47fs)	Ateleiotic dwarfism [RCV000115047]\|Rothmund-Thomson syndrome, type 3 [RCV000116207]	pathogenic	2	46623765	46623765	Human	2	name
156144728	CV2033107	duplication	NM_014171.6(CRIPT):c.132dup (p.Ala45fs)	not provided [RCV002741024]	pathogenic	2	46619669	46619670	Human		name
155915302	CV2149797	single nucleotide variant	NM_014171.6(CRIPT):c.46C>G (p.Pro16Ala)	not provided [RCV003012558]	uncertain significance	2	46618802	46618802	Human		name
155970412	CV2158023	single nucleotide variant	NM_014171.6(CRIPT):c.29T>C (p.Leu10Pro)	not provided [RCV003033407]	uncertain significance	2	46618785	46618785	Human		name
155949085	CV2162463	single nucleotide variant	NM_014171.6(CRIPT):c.71G>A (p.Arg24Lys)	not provided [RCV003014747]	uncertain significance	2	46618827	46618827	Human		name
155984772	CV2344887	single nucleotide variant	NM_014171.6(CRIPT):c.89G>C (p.Gly30Ala)	Inborn genetic diseases [RCV002946990]	uncertain significance	2	46619633	46619633	Human	1	name
38598874	CV964812	deletion	NM_014171.6(CRIPT):c.132del (p.Ala45fs)	Rothmund-Thomson syndrome, type 3 [RCV001254147]	pathogenic\|likely pathogenic	2	46619670	46619670	Human	1	name
151852989	CV1397673	single nucleotide variant	NM_014171.6(CRIPT):c.150T>A (p.Tyr50Ter)	not provided [RCV001958242]	pathogenic	2	46623776	46623776	Human		name
156374112	CV1917332	single nucleotide variant	NM_014171.6(CRIPT):c.257G>T (p.Cys86Phe)	Inborn genetic diseases [RCV004614373]\|not provided [RCV002603439]	uncertain significance	2	46624178	46624178	Human	1	name
156445957	CV1950981	single nucleotide variant	NM_014171.6(CRIPT):c.133G>C (p.Ala45Pro)	Inborn genetic diseases [RCV004978766]\|not provided [RCV003116920]	uncertain significance	2	46619677	46619677	Human	1	name
156001104	CV2074625	single nucleotide variant	NM_014171.6(CRIPT):c.104A>G (p.Asn35Ser)	not provided [RCV002843409]	uncertain significance	2	46619648	46619648	Human		name
156314705	CV2120263	single nucleotide variant	NM_014171.6(CRIPT):c.133G>A (p.Ala45Thr)	not provided [RCV002962827]	uncertain significance	2	46619677	46619677	Human		name
156354189	CV2154073	single nucleotide variant	NM_014171.6(CRIPT):c.283A>C (p.Asn95His)	not provided [RCV003031104]	uncertain significance	2	46624204	46624204	Human		name
156148032	CV2154256	single nucleotide variant	NM_014171.6(CRIPT):c.248G>T (p.Cys83Phe)	not provided [RCV003022754]	uncertain significance	2	46624169	46624169	Human		name
155915149	CV2155782	single nucleotide variant	NM_014171.6(CRIPT):c.221A>G (p.Gln74Arg)	Inborn genetic diseases [RCV003013590]\|not provided [RCV002991608]	uncertain significance	2	46623847	46623847	Human	1	name
155977935	CV2157034	single nucleotide variant	NM_014171.6(CRIPT):c.196C>T (p.His66Tyr)	not provided [RCV003016239]	uncertain significance	2	46623822	46623822	Human		name
156112665	CV2177495	single nucleotide variant	NM_014171.6(CRIPT):c.242G>T (p.Gly81Val)	not provided [RCV003055155]	uncertain significance	2	46624163	46624163	Human		name
156268453	CV2305760	single nucleotide variant	NM_014171.6(CRIPT):c.156G>T (p.Lys52Asn)	Inborn genetic diseases [RCV002920948]	uncertain significance	2	46623782	46623782	Human	1	name
156331541	CV2339655	single nucleotide variant	NM_014171.6(CRIPT):c.254T>C (p.Met85Thr)	Inborn genetic diseases [RCV002964234]	uncertain significance	2	46624175	46624175	Human	1	name
156339610	CV2367617	single nucleotide variant	NM_014171.6(CRIPT):c.244A>G (p.Ile82Val)	Inborn genetic diseases [RCV002674281]	uncertain significance	2	46624165	46624165	Human	1	name
329377792	CV2450107	single nucleotide variant	NM_014171.6(CRIPT):c.175A>G (p.Arg59Gly)	Inborn genetic diseases [RCV003186515]	uncertain significance	2	46623801	46623801	Human	1	name
401732048	CV2690271	single nucleotide variant	NM_014171.6(CRIPT):c.146C>G (p.Pro49Arg)	Inborn genetic diseases [RCV003290069]	uncertain significance	2	46623772	46623772	Human	1	name
401721809	CV2710172	single nucleotide variant	NM_014171.6(CRIPT):c.251C>T (p.Ala84Val)	Inborn genetic diseases [RCV003267758]\|not provided [RCV005102622]	uncertain significance	2	46624172	46624172	Human	1	name
401860523	CV2776086	single nucleotide variant	NM_014171.6(CRIPT):c.263A>G (p.Lys88Arg)	Inborn genetic diseases [RCV003357453]	uncertain significance	2	46624184	46624184	Human	1	name
401931618	CV2803737	single nucleotide variant	NM_014171.6(CRIPT):c.275A>G (p.Asp92Gly)	CRIPT-related disorder [RCV003408375]	uncertain significance	2	46624196	46624196	Human		name , trait , alternate_id
405664538	CV3242817	single nucleotide variant	NM_014171.6(CRIPT):c.149A>G (p.Tyr50Cys)	Inborn genetic diseases [RCV004367358]	uncertain significance	2	46623775	46623775	Human	1	name
405853244	CV3392538	single nucleotide variant	NM_014171.6(CRIPT):c.227G>A (p.Cys76Tyr)	Rothmund-Thomson syndrome, type 3 [RCV004526293]	pathogenic	2	46623853	46623853	Human	1	name
597664792	CV3657500	single nucleotide variant	NM_014171.6(CRIPT):c.212A>G (p.His71Arg)	Inborn genetic diseases [RCV004979203]	uncertain significance	2	46623838	46623838	Human	1	name
597648906	CV3713504	single nucleotide variant	NM_014171.6(CRIPT):c.191C>T (p.Ser64Phe)	Rothmund-Thomson syndrome, type 3 [RCV005026613]	uncertain significance	2	46623817	46623817	Human	1	name
597961700	CV3795233	single nucleotide variant	NM_014171.6(CRIPT):c.281A>G (p.Lys94Arg)	not provided [RCV005138925]	uncertain significance	2	46624202	46624202	Human		name
598249652	CV3941798	single nucleotide variant	NM_014171.6(CRIPT):c.170C>G (p.Thr57Ser)	Inborn genetic diseases [RCV005322776]	uncertain significance	2	46623796	46623796	Human	1	name
8658701	CV132705	insertion	NM_014171.6(CRIPT):c.133_134insGG (p.Ala45fs)	Ateleiotic dwarfism [RCV000115046]\|Rothmund-Thomson syndrome, type 3 [RCV000116206]	pathogenic\|likely pathogenic	2	46619676	46619677	Human	2	name
8658658	CV133695	deletion	CRIPT:c.141delT AND SHORT STATURE WITH MICROCEPHALY	SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES [RCV000116207]	pathogenic	2	46623767	46623767	Human		name
8658657	CV133694	insertion	CRIPT:c.133_134insGG (p.Ala45Glyfs) AND SHORT STATURE WITH MICROCEPHALY	SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES [RCV000116206]	pathogenic	2	46619677	46619678	Human		name
150478275	CV1218759	deletion	NM_003212.4(CRIPTO):c.*277del	not provided [RCV001616386]	benign	3	46581511	46581511	Human		name
150433987	CV1243839	single nucleotide variant	NM_003212.3(CRIPTO):c.-222T>A	not provided [RCV001665045]	benign	3	46577748	46577748	Human		name
150543575	CV1309040	single nucleotide variant	NM_003212.4(CRIPTO):c.*206T>A	not provided [RCV001769953]	likely benign	3	46581456	46581456	Human		name
150536163	CV1309160	single nucleotide variant	NM_003212.4(CRIPTO):c.*252C>T	not provided [RCV001759367]	likely benign	3	46581502	46581502	Human		name
15185121	CV777370	single nucleotide variant	NM_003212.4(CRIPTO):c.88+8A>G	not provided [RCV000952886]	likely benign	3	46579155	46579155	Human		name
150484293	CV1222460	single nucleotide variant	NM_003212.4(CRIPTO):c.35+38C>T	not provided [RCV001617463]	benign	3	46578042	46578042	Human		name
150542819	CV1306620	single nucleotide variant	NM_003212.4(CRIPTO):c.35+60G>A	not provided [RCV001769684]	likely benign	3	46578064	46578064	Human		name
150534575	CV1308528	single nucleotide variant	NM_003212.4(CRIPTO):c.36-23C>T	not provided [RCV001757573]	likely benign	3	46579072	46579072	Human		name
150539284	CV1308602	single nucleotide variant	NM_003212.4(CRIPTO):c.36-67T>C	not provided [RCV001766106]	likely benign	3	46579028	46579028	Human		name
15098866	CV777414	single nucleotide variant	NM_003212.4(CRIPTO):c.339-8A>G	CRIPTO-related disorder [RCV003915980]\|not provided [RCV000958655]	benign\|likely benign	3	46579943	46579943	Human		name , trait , alternate_id
150497239	CV1219373	single nucleotide variant	NM_003212.4(CRIPTO):c.224-14T>C	not provided [RCV001620042]	benign	3	46579725	46579725	Human		name
150511927	CV1228380	single nucleotide variant	NM_003212.4(CRIPTO):c.223+43T>A	not provided [RCV001637512]	benign	3	46579409	46579409	Human		name
150463946	CV1273224	single nucleotide variant	NM_003212.4(CRIPTO):c.36-311T>A	not provided [RCV001693981]	benign	3	46578784	46578784	Human		name
150541704	CV1306511	single nucleotide variant	NM_003212.4(CRIPTO):c.35+279G>A	not provided [RCV001768133]	likely benign	3	46578283	46578283	Human		name
150543021	CV1306688	single nucleotide variant	NM_003212.4(CRIPTO):c.338+11C>T	not provided [RCV001769752]	likely benign	3	46579864	46579864	Human		name
150539285	CV1308603	single nucleotide variant	NM_003212.4(CRIPTO):c.35+121C>G	not provided [RCV001766107]	likely benign	3	46578125	46578125	Human		name
150465560	CV1218041	single nucleotide variant	NM_003212.4(CRIPTO):c.449-165G>A	not provided [RCV001614167]	benign	3	46580967	46580967	Human		name
150481488	CV1258928	single nucleotide variant	NM_003212.4(CRIPTO):c.224-106A>T	not provided [RCV001686058]	benign	3	46579633	46579633	Human		name
150534658	CV1307901	single nucleotide variant	NM_003212.4(CRIPTO):c.448+103G>T	not provided [RCV001757623]	likely benign	3	46580163	46580163	Human		name
150539281	CV1308599	single nucleotide variant	NM_003212.4(CRIPTO):c.224-112A>G	not provided [RCV001766103]	likely benign	3	46579627	46579627	Human		name
150539282	CV1308600	single nucleotide variant	NM_003212.4(CRIPTO):c.448+243G>A	not provided [RCV001766104]	likely benign	3	46580303	46580303	Human		name
150539283	CV1308601	single nucleotide variant	NM_003212.4(CRIPTO):c.223+105T>G	not provided [RCV001766105]	likely benign	3	46579471	46579471	Human		name
150535930	CV1309059	single nucleotide variant	NM_003212.4(CRIPTO):c.224-172A>G	not provided [RCV001759266]	likely benign	3	46579567	46579567	Human		name
150477349	CV1218613	single nucleotide variant	NM_001174136.2(CRIPTO):c.-13-1825A>C	not provided [RCV001616240]	benign	3	46577270	46577270	Human		name
401931944	CV2799076	single nucleotide variant	NM_003212.4(CRIPTO):c.115C>A (p.Pro39Thr)	CRIPTO-related disorder [RCV003391656]	uncertain significance	3	46579258	46579258	Human		name , trait , alternate_id
150438431	CV1221160	single nucleotide variant	NM_003212.4(CRIPTO):c.168G>A (p.Glu56=)	not provided [RCV001609854]	benign	3	46579311	46579311	Human		name
407463991	CV3429653	single nucleotide variant	NM_003212.4(CRIPTO):c.23G>A (p.Arg8His)	not specified [RCV004613340]	uncertain significance	3	46577992	46577992	Human		name
15110112	CV708878	single nucleotide variant	NM_003212.4(CRIPTO):c.294T>G (p.Pro98=)	not provided [RCV000960836]	benign	3	46579809	46579809	Human		name
150442537	CV1264450	single nucleotide variant	NM_003212.4(CRIPTO):c.65T>C (p.Val22Ala)	not provided [RCV001679433]	benign	3	46579124	46579124	Human		name
150535570	CV1309126	single nucleotide variant	NM_003212.4(CRIPTO):c.348G>T (p.Gly116=)	not provided [RCV001759333]	likely benign	3	46579960	46579960	Human		name
150550356	CV1309288	single nucleotide variant	NM_003212.4(CRIPTO):c.456T>C (p.Leu152=)	not provided [RCV001752969]	likely benign	3	46581139	46581139	Human		name
329400524	CV2438443	single nucleotide variant	NM_003212.4(CRIPTO):c.55A>T (p.Ile19Phe)	not specified [RCV004554090]	likely benign	3	46579114	46579114	Human		name
405855561	CV3394514	single nucleotide variant	NM_003212.4(CRIPTO):c.45G>T (p.Trp15Cys)	not specified [RCV004549165]	uncertain significance	3	46579104	46579104	Human		name
598128341	CV3887545	single nucleotide variant	NM_003212.4(CRIPTO):c.474C>T (p.Leu158=)	not provided [RCV005243718]	likely benign	3	46581157	46581157	Human		name
15180722	CV720469	single nucleotide variant	NM_003212.4(CRIPTO):c.453C>G (p.Gly151=)	not provided [RCV000885595]	benign	3	46581136	46581136	Human		name
150496283	CV1272846	single nucleotide variant	NM_003212.4(CRIPTO):c.127T>G (p.Tyr43Asp)	not provided [RCV001688769]	benign	3	46579270	46579270	Human		name
156259727	CV2277857	single nucleotide variant	NM_003212.4(CRIPTO):c.122G>A (p.Arg41Gln)	not specified [RCV004552279]	likely benign	3	46579265	46579265	Human		name
329952805	CV2670154	single nucleotide variant	NM_003212.4(CRIPTO):c.185G>C (p.Arg62Pro)	not provided [RCV003233364]	uncertain significance	3	46579328	46579328	Human		name
405855556	CV3394509	single nucleotide variant	NM_003212.4(CRIPTO):c.142G>A (p.Asp48Asn)	not specified [RCV004549160]	uncertain significance	3	46579285	46579285	Human		name
405855557	CV3394510	single nucleotide variant	NM_003212.4(CRIPTO):c.179G>A (p.Arg60Gln)	not specified [RCV004549161]	uncertain significance	3	46579322	46579322	Human		name
405855558	CV3394511	single nucleotide variant	NM_003212.4(CRIPTO):c.292C>G (p.Pro98Ala)	not specified [RCV004549162]	uncertain significance	3	46579807	46579807	Human		name
407463996	CV3429654	single nucleotide variant	NM_003212.4(CRIPTO):c.269T>G (p.Met90Arg)	not specified [RCV004613341]	uncertain significance	3	46579784	46579784	Human		name
597799365	CV3657501	single nucleotide variant	NM_003212.4(CRIPTO):c.124G>A (p.Gly42Arg)	not specified [RCV004905170]	uncertain significance	3	46579267	46579267	Human		name
597799368	CV3657502	single nucleotide variant	NM_003212.4(CRIPTO):c.244T>C (p.Cys82Arg)	not specified [RCV004905171]	uncertain significance	3	46579759	46579759	Human		name
598249657	CV3941799	single nucleotide variant	NM_003212.4(CRIPTO):c.112C>T (p.Arg38Cys)	not specified [RCV005322777]	uncertain significance	3	46579255	46579255	Human		name
598249664	CV3941800	single nucleotide variant	NM_003212.4(CRIPTO):c.113G>A (p.Arg38His)	not specified [RCV005322778]	uncertain significance	3	46579256	46579256	Human		name
598259260	CV3941801	single nucleotide variant	NM_003212.4(CRIPTO):c.256G>T (p.Gly86Trp)	not specified [RCV005324755]	uncertain significance	3	46579771	46579771	Human		name
126911900	CV1037405	single nucleotide variant	NM_003212.4(CRIPTO):c.360T>G (p.His120Gln)	not provided [RCV001355908]	uncertain significance	3	46579972	46579972	Human		name
329394522	CV2461393	single nucleotide variant	NM_003212.4(CRIPTO):c.425C>T (p.Pro142Leu)	not specified [RCV004548463]	uncertain significance	3	46580037	46580037	Human		name
8599130	CV27767	single nucleotide variant	NM_003212.4(CRIPTO):c.374C>T (p.Pro125Leu)	Forebrain defects [RCV000013565]	pathogenic\|uncertain significance	3	46579986	46579986	Human	1	name
405855559	CV3394512	single nucleotide variant	NM_003212.4(CRIPTO):c.307G>A (p.Gly103Arg)	not specified [RCV004549163]	uncertain significance	3	46579822	46579822	Human		name
405855562	CV3394515	single nucleotide variant	NM_003212.4(CRIPTO):c.512G>A (p.Arg171His)	not specified [RCV004549166]	uncertain significance	3	46581195	46581195	Human		name
405855563	CV3394516	single nucleotide variant	NM_003212.4(CRIPTO):c.563A>G (p.Tyr188Cys)	not specified [RCV004549167]	uncertain significance	3	46581246	46581246	Human		name
407464000	CV3429655	single nucleotide variant	NM_003212.4(CRIPTO):c.452G>A (p.Gly151Asp)	not specified [RCV004613342]	uncertain significance	3	46581135	46581135	Human		name
598259267	CV3941802	single nucleotide variant	NM_003212.4(CRIPTO):c.460A>G (p.Met154Val)	not specified [RCV005324756]	uncertain significance	3	46581143	46581143	Human		name
14393936	CV609515	single nucleotide variant	NM_003212.4(CRIPTO):c.325G>C (p.Asp109His)	not provided [RCV000756756]	likely benign	3	46579840	46579840	Human		name
15098859	CV698123	single nucleotide variant	NM_003212.4(CRIPTO):c.331C>G (p.Arg111Gly)	not provided [RCV000958654]\|not specified [RCV001724196]	benign	3	46579846	46579846	Human		name
598128893	CV3886694	single nucleotide variant	NM_001397362.1(CRIPTO3):c.213A>G (p.Gly71=)	not provided [RCV005244354]	likely benign	X	110521342	110521342	Human		name

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