Pam Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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227 records found for search term Pam

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
15169089	CV730318	single nucleotide variant	NM_001177306.2(PAM):c.443-5T>C	not provided [RCV000883196]	benign	5	102926580	102926580	Human		name
15133634	CV779059	single nucleotide variant	NM_001177306.2(PAM):c.1804-5A>T	not provided [RCV000964986]	benign	5	103006796	103006796	Human		name
8631338	CV86499	single nucleotide variant	NM_000919.3(PAM):c.1716C>T (p.Ser572=)	Malignant melanoma [RCV000066590]	not provided	5	103003135	103003135	Human		name
15114178	CV709546	single nucleotide variant	NM_001177306.2(PAM):c.92T>A (p.Phe31Tyr)	not provided [RCV000961626]	benign	5	102867275	102867275	Human		name
405758210	CV3367853	single nucleotide variant	NM_001177306.2(PAM):c.172G>A (p.Ala58Thr)	not specified [RCV004500173]	uncertain significance	5	102867355	102867355	Human		name
405758233	CV3367856	single nucleotide variant	NM_001177306.2(PAM):c.239G>A (p.Arg80Gln)	not specified [RCV004500176]	uncertain significance	5	102901384	102901384	Human		name
597716458	CV3575007	single nucleotide variant	NM_001177306.2(PAM):c.265G>A (p.Val89Met)	not specified [RCV004841434]	uncertain significance	5	102901410	102901410	Human		name
15185090	CV698709	single nucleotide variant	NM_001177306.2(PAM):c.145G>C (p.Val49Leu)	not provided [RCV000952877]	benign	5	102867328	102867328	Human		name
15098378	CV698711	single nucleotide variant	NM_001177306.2(PAM):c.1050C>T (p.Pro350=)	not provided [RCV000958543]	benign	5	102960019	102960019	Human		name
15145202	CV709547	single nucleotide variant	NM_001177306.2(PAM):c.2706C>T (p.Leu902=)	not provided [RCV000966955]	benign	5	103028201	103028201	Human		name
15167976	CV749120	single nucleotide variant	NM_001177306.2(PAM):c.1104A>G (p.Lys368=)	not provided [RCV000927198]	likely benign	5	102961171	102961171	Human		name
15144538	CV749121	single nucleotide variant	NM_001177306.2(PAM):c.1947T>C (p.Asp649=)	not provided [RCV000922384]	benign	5	103006944	103006944	Human		name
15149100	CV749122	single nucleotide variant	NM_001177306.2(PAM):c.2205A>G (p.Ser735=)	not provided [RCV000923221]	likely benign	5	103007647	103007647	Human		name
15176317	CV764668	single nucleotide variant	NM_001177306.2(PAM):c.1152G>T (p.Val384=)	not provided [RCV000928890]	likely benign	5	102961219	102961219	Human		name
15127187	CV764669	single nucleotide variant	NM_001177306.2(PAM):c.2712G>A (p.Thr904=)	not provided [RCV000941504]	likely benign	5	103028207	103028207	Human		name
15108981	CV764670	single nucleotide variant	NM_001177306.2(PAM):c.2871A>C (p.Ser957=)	not provided [RCV000938255]	likely benign	5	103029014	103029014	Human		name
155941124	CV2232458	single nucleotide variant	NM_001177306.2(PAM):c.524G>C (p.Arg175Thr)	not specified [RCV004099075]	uncertain significance	5	102926666	102926666	Human		name
155998877	CV2287203	single nucleotide variant	NM_001177306.2(PAM):c.851T>G (p.Leu284Arg)	not specified [RCV004146853]	uncertain significance	5	102950766	102950766	Human		name
156350928	CV2316307	single nucleotide variant	NM_001177306.2(PAM):c.682C>A (p.Pro228Thr)	not specified [RCV004174327]	uncertain significance	5	102949575	102949575	Human		name
329373227	CV2439362	single nucleotide variant	NM_001177306.2(PAM):c.337T>C (p.Ser113Pro)	not specified [RCV004249661]	uncertain significance	5	102914002	102914002	Human		name
329355739	CV2445608	single nucleotide variant	NM_001177306.2(PAM):c.940A>G (p.Ile314Val)	not specified [RCV004259693]	uncertain significance	5	102959909	102959909	Human		name
329387571	CV2470837	single nucleotide variant	NM_001177306.2(PAM):c.690T>A (p.His230Gln)	not specified [RCV004276048]	uncertain significance	5	102949583	102949583	Human		name
401742312	CV2677557	single nucleotide variant	NM_001177306.2(PAM):c.440A>G (p.Lys147Arg)	not specified [RCV004291661]	uncertain significance	5	102925040	102925040	Human		name
405758269	CV3367861	single nucleotide variant	NM_001177306.2(PAM):c.688C>A (p.His230Asn)	not specified [RCV004500181]	uncertain significance	5	102949581	102949581	Human		name
407517916	CV3466393	single nucleotide variant	NM_001177306.2(PAM):c.898C>T (p.His300Tyr)	not specified [RCV004650826]	uncertain significance	5	102950813	102950813	Human		name
597657721	CV3575014	single nucleotide variant	NM_001177306.2(PAM):c.514A>G (p.Ser172Gly)	not specified [RCV004827666]	uncertain significance	5	102926656	102926656	Human		name
597716530	CV3575016	single nucleotide variant	NM_001177306.2(PAM):c.580C>T (p.Pro194Ser)	not specified [RCV004841441]	uncertain significance	5	102948382	102948382	Human		name
598258978	CV4005747	single nucleotide variant	NM_001177306.2(PAM):c.955G>C (p.Glu319Gln)	not specified [RCV005386390]	uncertain significance	5	102959924	102959924	Human		name
598258988	CV4005749	single nucleotide variant	NM_001177306.2(PAM):c.830A>G (p.Asp277Gly)	not specified [RCV005386392]	uncertain significance	5	102950745	102950745	Human		name
15098374	CV698710	single nucleotide variant	NM_001177306.2(PAM):c.575C>T (p.Pro192Leu)	not provided [RCV000958542]	benign	5	102946885	102946885	Human		name
15187363	CV734788	single nucleotide variant	NM_001177306.2(PAM):c.431G>A (p.Arg144Gln)	not provided [RCV000909069]	likely benign	5	102925031	102925031	Human		name
156151006	CV2197825	single nucleotide variant	NM_001177306.2(PAM):c.1516G>C (p.Gly506Arg)	not specified [RCV004077063]	uncertain significance	5	102990304	102990304	Human		name
156091690	CV2216670	single nucleotide variant	NM_001177306.2(PAM):c.2781T>A (p.Phe927Leu)	not specified [RCV004083125]	uncertain significance	5	103028924	103028924	Human		name
156400733	CV2217085	single nucleotide variant	NM_001177306.2(PAM):c.2818C>T (p.Arg940Trp)	not specified [RCV004085762]	uncertain significance	5	103028961	103028961	Human		name
156333058	CV2220779	single nucleotide variant	NM_001177306.2(PAM):c.2585C>T (p.Ser862Leu)	not specified [RCV004092229]	uncertain significance	5	103025230	103025230	Human		name
156111802	CV2228307	single nucleotide variant	NM_001177306.2(PAM):c.1499A>C (p.Glu500Ala)	not specified [RCV004098307]	uncertain significance	5	102990287	102990287	Human		name
156384602	CV2231130	single nucleotide variant	NM_001177306.2(PAM):c.2029A>T (p.Ser677Cys)	not specified [RCV004094345]	uncertain significance	5	103007471	103007471	Human		name
156250547	CV2232187	single nucleotide variant	NM_001177306.2(PAM):c.2378T>C (p.Val793Ala)	not specified [RCV004104986]	uncertain significance	5	103017380	103017380	Human		name
156238193	CV2265371	single nucleotide variant	NM_001177306.2(PAM):c.1766A>G (p.Asp589Gly)	not specified [RCV004128254]	uncertain significance	5	103005189	103005189	Human		name
156165592	CV2330060	single nucleotide variant	NM_001177306.2(PAM):c.2182G>C (p.Gly728Arg)	not specified [RCV004185552]	uncertain significance	5	103007624	103007624	Human		name
156280725	CV2348468	single nucleotide variant	NM_001177306.2(PAM):c.2663G>A (p.Arg888Gln)	not specified [RCV004193657]	uncertain significance	5	103025308	103025308	Human		name
156283396	CV2360574	single nucleotide variant	NM_001177306.2(PAM):c.2096G>A (p.Cys699Tyr)	not specified [RCV004211331]	uncertain significance	5	103007538	103007538	Human		name
329375187	CV2440827	single nucleotide variant	NM_001177306.2(PAM):c.1172A>G (p.Tyr391Cys)	not specified [RCV004261225]	uncertain significance	5	102974125	102974125	Human		name
401726522	CV2695710	single nucleotide variant	NM_001177306.2(PAM):c.2117G>A (p.Gly706Asp)	not specified [RCV004299512]	uncertain significance	5	103007559	103007559	Human		name
401756651	CV2696392	single nucleotide variant	NM_001177306.2(PAM):c.1396T>G (p.Ser466Ala)	not specified [RCV004312496]	uncertain significance	5	102974349	102974349	Human		name
401722435	CV2706519	single nucleotide variant	NM_001177306.2(PAM):c.2172T>G (p.His724Gln)	not specified [RCV004317329]	uncertain significance	5	103007614	103007614	Human		name
401858035	CV2774152	single nucleotide variant	NM_001177306.2(PAM):c.1672A>G (p.Thr558Ala)	not specified [RCV004345742]	uncertain significance	5	103003091	103003091	Human		name
401878345	CV2774225	single nucleotide variant	NM_001177306.2(PAM):c.1151T>G (p.Val384Gly)	not specified [RCV004347598]	uncertain significance	5	102961218	102961218	Human		name
405758216	CV3367854	single nucleotide variant	NM_001177306.2(PAM):c.2156T>G (p.Val719Gly)	not specified [RCV004500174]	uncertain significance	5	103007598	103007598	Human		name
405758225	CV3367855	single nucleotide variant	NM_001177306.2(PAM):c.2291C>T (p.Ser764Phe)	not specified [RCV004500175]	uncertain significance	5	103009826	103009826	Human		name
405758240	CV3367857	single nucleotide variant	NM_001177306.2(PAM):c.2711C>A (p.Thr904Lys)	not specified [RCV004500177]	uncertain significance	5	103028206	103028206	Human		name
405758249	CV3367858	single nucleotide variant	NM_001177306.2(PAM):c.2737T>C (p.Phe913Leu)	not specified [RCV004500178]	likely benign	5	103028232	103028232	Human		name
405758255	CV3367859	single nucleotide variant	NM_001177306.2(PAM):c.2850A>C (p.Lys950Asn)	not specified [RCV004500179]	uncertain significance	5	103028993	103028993	Human		name
405758263	CV3367860	single nucleotide variant	NM_001177306.2(PAM):c.2905G>A (p.Ala969Thr)	not specified [RCV004500180]	uncertain significance	5	103029048	103029048	Human		name
407517913	CV3466392	single nucleotide variant	NM_001177306.2(PAM):c.1540G>A (p.Val514Ile)	not specified [RCV004650825]	uncertain significance	5	102990328	102990328	Human		name
407479375	CV3466394	single nucleotide variant	NM_001177306.2(PAM):c.1379A>G (p.Lys460Arg)	not specified [RCV004664118]	uncertain significance	5	102974332	102974332	Human		name
597716467	CV3575008	single nucleotide variant	NM_001177306.2(PAM):c.1013T>A (p.Phe338Tyr)	not specified [RCV004841435]	uncertain significance	5	102959982	102959982	Human		name
597716479	CV3575009	single nucleotide variant	NM_001177306.2(PAM):c.2550G>T (p.Met850Ile)	not specified [RCV004841436]	uncertain significance	5	103025195	103025195	Human		name
597716491	CV3575010	single nucleotide variant	NM_001177306.2(PAM):c.2310C>A (p.Asp770Glu)	not specified [RCV004841437]	uncertain significance	5	103009845	103009845	Human		name
597716503	CV3575011	single nucleotide variant	NM_001177306.2(PAM):c.1586A>T (p.His529Leu)	not specified [RCV004841438]	uncertain significance	5	102990374	102990374	Human		name
597716511	CV3575012	single nucleotide variant	NM_001177306.2(PAM):c.1042C>G (p.Pro348Ala)	not specified [RCV004841439]	uncertain significance	5	102960011	102960011	Human		name
597716522	CV3575013	single nucleotide variant	NM_001177306.2(PAM):c.2479A>G (p.Ile827Val)	not specified [RCV004841440]	uncertain significance	5	103019837	103019837	Human		name
597657729	CV3575015	single nucleotide variant	NM_001177306.2(PAM):c.1774T>A (p.Tyr592Asn)	not specified [RCV004827667]	uncertain significance	5	103005197	103005197	Human		name
597716537	CV3575017	single nucleotide variant	NM_001177306.2(PAM):c.2230G>T (p.Val744Leu)	not specified [RCV004841442]	uncertain significance	5	103009765	103009765	Human		name
598258983	CV4005748	single nucleotide variant	NM_001177306.2(PAM):c.1064T>C (p.Met355Thr)	not specified [RCV005386391]	uncertain significance	5	102960033	102960033	Human		name
598258993	CV4005750	single nucleotide variant	NM_001177306.2(PAM):c.2234A>G (p.Asn745Ser)	not specified [RCV005386393]	uncertain significance	5	103009769	103009769	Human		name
598258998	CV4005751	single nucleotide variant	NM_001177306.2(PAM):c.2520C>A (p.Asn840Lys)	not specified [RCV005386394]	uncertain significance	5	103025165	103025165	Human		name
15098383	CV698712	single nucleotide variant	NM_001177306.2(PAM):c.1473A>C (p.Glu491Asp)	not provided [RCV000958544]	benign	5	102974426	102974426	Human		name
156070119	CV2167319	single nucleotide variant	NM_016069.11(PAM16):c.3+3G>A	not provided [RCV003020015]	uncertain significance	16	4351229	4351229	Human		name
597895594	CV3744187	single nucleotide variant	NM_016069.11(PAM16):c.3+9C>T	not provided [RCV005071657]	likely benign	16	4351223	4351223	Human		name
597872182	CV3747131	single nucleotide variant	NM_016069.11(PAM16):c.3+7C>T	not provided [RCV005068815]	likely benign	16	4351225	4351225	Human		name
597954689	CV3786739	single nucleotide variant	NM_016069.11(PAM16):c.3+7C>A	not provided [RCV005121830]	likely benign	16	4351225	4351225	Human		name
150487465	CV1225913	single nucleotide variant	NM_016069.11(PAM16):c.4-84T>G	not provided [RCV001618074]	benign	16	4343375	4343375	Human		name
152104770	CV1536555	single nucleotide variant	NM_016069.11(PAM16):c.3+20C>T	not provided [RCV002173564]	likely benign	16	4351212	4351212	Human		name
152050911	CV1610634	single nucleotide variant	NM_016069.11(PAM16):c.3+14C>T	not provided [RCV002127244]	benign	16	4351218	4351218	Human		name
405174781	CV3052611	single nucleotide variant	NM_016069.11(PAM16):c.88+8T>C	not provided [RCV003728220]	likely benign	16	4343199	4343199	Human		name
150443333	CV1232566	single nucleotide variant	NM_016069.11(PAM16):c.3+175C>G	not provided [RCV001645534]	benign	16	4351057	4351057	Human		name
150485286	CV1262063	single nucleotide variant	NM_016069.11(PAM16):c.89-62G>A	not provided [RCV001686754]	benign	16	4341566	4341566	Human		name
150486456	CV1283604	single nucleotide variant	NM_016069.11(PAM16):c.292-241=	not provided [RCV001715787]	benign	16	4340646	4340646	Human		name
152071772	CV1544469	single nucleotide variant	NM_016069.11(PAM16):c.88+12T>C	not provided [RCV002129705]	benign	16	4343195	4343195	Human		name
152098513	CV1611734	single nucleotide variant	NM_016069.11(PAM16):c.226-3C>T	not provided [RCV002172789]	benign	16	4340988	4340988	Human		name
152085939	CV1645286	single nucleotide variant	NM_016069.11(PAM16):c.292-9A>T	not provided [RCV002131427]	likely benign	16	4340414	4340414	Human		name
152164989	CV1654214	single nucleotide variant	NM_016069.11(PAM16):c.88+15G>A	not provided [RCV002181645]	likely benign	16	4343192	4343192	Human		name
156410348	CV1958333	single nucleotide variant	NM_016069.11(PAM16):c.226-9C>T	not provided [RCV002587123]	likely benign	16	4340994	4340994	Human		name
156404764	CV1993503	single nucleotide variant	NM_016069.11(PAM16):c.88+14C>T	not provided [RCV002658133]	likely benign	16	4343193	4343193	Human		name
155990301	CV2026911	single nucleotide variant	NM_016069.11(PAM16):c.226-9C>G	not provided [RCV002755720]	uncertain significance	16	4340994	4340994	Human		name
156265075	CV2030383	single nucleotide variant	NM_016069.11(PAM16):c.226-5T>C	not provided [RCV002746440]	likely benign	16	4340990	4340990	Human		name
405138272	CV2970201	single nucleotide variant	NM_016069.11(PAM16):c.225+7C>A	not provided [RCV003668975]	likely benign	16	4341361	4341361	Human		name
405200431	CV3128917	single nucleotide variant	NM_016069.11(PAM16):c.225+9A>G	not provided [RCV003821960]	likely benign	16	4341359	4341359	Human		name
15169399	CV779883	single nucleotide variant	NM_016069.11(PAM16):c.291+7G>T	PAM16-related disorder [RCV003906026]\|not provided [RCV000971804]	benign\|likely benign	16	4340913	4340913	Human	1	name , trait , alternate_id
150502369	CV1223192	single nucleotide variant	NM_016069.11(PAM16):c.89-304A>G	not provided [RCV001621126]	benign	16	4341808	4341808	Human		name
150446902	CV1232171	single nucleotide variant	NM_016069.11(PAM16):c.89-228A>T	not provided [RCV001646079]	benign	16	4341732	4341732	Human		name
150497318	CV1237002	single nucleotide variant	NM_016069.11(PAM16):c.291+48T>C	not provided [RCV001656066]	benign	16	4340872	4340872	Human		name
150486082	CV1250359	single nucleotide variant	NM_016069.11(PAM16):c.225+88T>C	not provided [RCV001673972]	benign	16	4341280	4341280	Human		name
150488058	CV1262830	single nucleotide variant	NM_016069.11(PAM16):c.226-54A>G	not provided [RCV001687228]	benign	16	4341039	4341039	Human		name
151884882	CV1364098	single nucleotide variant	NM_016069.11(PAM16):c.292-10G>A	not provided [RCV002037643]	likely benign	16	4340415	4340415	Human		name
152051174	CV1523416	single nucleotide variant	NM_016069.11(PAM16):c.225+15C>T	not provided [RCV002127271]	benign	16	4341353	4341353	Human		name
152044995	CV1525660	single nucleotide variant	NM_016069.11(PAM16):c.292-20G>C	not provided [RCV002126555]	likely benign	16	4340425	4340425	Human		name
152149412	CV1545379	single nucleotide variant	NM_016069.11(PAM16):c.292-16A>G	not provided [RCV002121532]	likely benign	16	4340421	4340421	Human		name
152162548	CV1600530	single nucleotide variant	NM_016069.11(PAM16):c.226-18G>A	not provided [RCV002141167]	likely benign	16	4341003	4341003	Human		name
156412172	CV1969315	single nucleotide variant	NM_016069.11(PAM16):c.292-13C>T	not provided [RCV002587730]	likely benign	16	4340418	4340418	Human		name
155906037	CV2048151	single nucleotide variant	NM_016069.11(PAM16):c.292-12G>A	not provided [RCV002771269]	benign	16	4340417	4340417	Human		name
405115725	CV2953115	single nucleotide variant	NM_016069.11(PAM16):c.225+18C>T	not provided [RCV003666838]	likely benign	16	4341350	4341350	Human		name
405227022	CV2963432	single nucleotide variant	NM_016069.11(PAM16):c.226-20C>T	not provided [RCV003681598]	likely benign	16	4341005	4341005	Human		name
405211604	CV3146372	single nucleotide variant	NM_016069.11(PAM16):c.226-16C>T	not provided [RCV003845903]	likely benign	16	4341001	4341001	Human		name
597947499	CV3758976	single nucleotide variant	NM_016069.11(PAM16):c.292-16A>T	not provided [RCV005078772]	likely benign	16	4340421	4340421	Human		name
597898893	CV3782630	single nucleotide variant	NM_016069.11(PAM16):c.225+14G>C	not provided [RCV005126855]	likely benign	16	4341354	4341354	Human		name
15135635	CV780026	single nucleotide variant	NM_016069.11(PAM16):c.291+10C>T	not provided [RCV000965320]	benign	16	4340910	4340910	Human		name
8652930	CV129505	single nucleotide variant	NM_001001991.2(PAMR1):c.494+477C>A	Lung cancer [RCV000109992]	uncertain significance	11	35474153	35474153	Human		name
156360300	CV1874119	microsatellite	NM_016069.11(PAM16):c.226-10_226-9del	not provided [RCV003065565]	likely benign	16	4340994	4340995	Human		name
152120203	CV1574160	single nucleotide variant	NM_016069.11(PAM16):c.27T>C (p.Ile9=)	not provided [RCV002175469]	likely benign	16	4343268	4343268	Human		name
15191897	CV770906	single nucleotide variant	NM_016069.11(PAM16):c.24C>T (p.Ile8=)	not provided [RCV000932930]	likely benign	16	4343271	4343271	Human		name
151881424	CV1395834	single nucleotide variant	NM_016069.11(PAM16):c.51C>T (p.Gly17=)	not provided [RCV002036942]	likely benign\|uncertain significance	16	4343244	4343244	Human		name
597943896	CV3812409	single nucleotide variant	NM_016069.11(PAM16):c.72G>A (p.Leu24=)	not provided [RCV005159619]	likely benign	16	4343223	4343223	Human		name
151779111	CV1468940	single nucleotide variant	NM_016069.11(PAM16):c.13C>G (p.Leu5Val)	not provided [RCV002045989]	uncertain significance	16	4343282	4343282	Human		name
152101668	CV1540235	single nucleotide variant	NM_016069.11(PAM16):c.159C>T (p.Gly53=)	not provided [RCV002095611]	likely benign	16	4341434	4341434	Human		name
152040551	CV1649217	single nucleotide variant	NM_016069.11(PAM16):c.141C>T (p.Ala47=)	not provided [RCV002206280]	likely benign	16	4341452	4341452	Human		name
156441588	CV1940912	single nucleotide variant	NM_016069.11(PAM16):c.132G>C (p.Arg44=)	not provided [RCV003111916]	likely benign	16	4341461	4341461	Human		name
156438718	CV1947331	single nucleotide variant	NM_016069.11(PAM16):c.192C>T (p.Asn64=)	not provided [RCV003108664]	likely benign	16	4341401	4341401	Human		name
151725546	CV1364882	single nucleotide variant	NM_016069.11(PAM16):c.94C>T (p.Arg32Trp)	not provided [RCV002040628]	uncertain significance	16	4341499	4341499	Human		name
151750589	CV1377917	single nucleotide variant	NM_016069.11(PAM16):c.31A>G (p.Met11Val)	not provided [RCV002043246]	uncertain significance	16	4343264	4343264	Human		name
152038729	CV1538118	single nucleotide variant	NM_016069.11(PAM16):c.312C>T (p.Arg104=)	not provided [RCV002206013]	likely benign	16	4340385	4340385	Human		name
155937192	CV2114266	single nucleotide variant	NM_016069.11(PAM16):c.47T>C (p.Val16Ala)	not provided [RCV002904221]\|not specified [RCV004066207]	uncertain significance	16	4343248	4343248	Human		name
404985545	CV3183785	single nucleotide variant	NM_016069.11(PAM16):c.375G>A (p.Thr125=)	not provided [RCV003881062]	likely benign	16	4340322	4340322	Human		name
15165884	CV755184	single nucleotide variant	NM_016069.11(PAM16):c.345G>A (p.Glu115=)	not provided [RCV000926736]	likely benign	16	4340352	4340352	Human		name
15123755	CV755185	single nucleotide variant	NM_016069.11(PAM16):c.300C>T (p.Arg100=)	not provided [RCV000918873]	likely benign	16	4340397	4340397	Human		name
150453468	CV1231829	single nucleotide variant	NM_016069.11(PAM16):c.131G>A (p.Arg44Gln)	not provided [RCV001648136]	benign	16	4341462	4341462	Human		name
151760497	CV1343236	single nucleotide variant	NM_016069.11(PAM16):c.118C>T (p.Arg40Cys)	not provided [RCV002024309]\|not specified [RCV004046945]	uncertain significance	16	4341475	4341475	Human		name
151751520	CV1412187	single nucleotide variant	NM_016069.11(PAM16):c.130C>T (p.Arg44Trp)	not provided [RCV001927564]\|not specified [RCV004041551]	uncertain significance	16	4341463	4341463	Human		name
151759993	CV1448327	single nucleotide variant	NM_016069.11(PAM16):c.113G>A (p.Arg38Gln)	not provided [RCV001949023]	uncertain significance	16	4341480	4341480	Human		name
151866054	CV1472333	single nucleotide variant	NM_016069.11(PAM16):c.268G>A (p.Gly90Ser)	not provided [RCV002018355]	uncertain significance	16	4340943	4340943	Human		name
151869482	CV1475186	single nucleotide variant	NM_016069.11(PAM16):c.242T>G (p.Phe81Cys)	not provided [RCV001960237]	uncertain significance	16	4340969	4340969	Human		name
151755037	CV1483848	single nucleotide variant	NM_016069.11(PAM16):c.263T>C (p.Val88Ala)	not provided [RCV001927895]	uncertain significance	16	4340948	4340948	Human		name
10041664	CV185715	single nucleotide variant	NM_016069.11(PAM16):c.226A>G (p.Asn76Asp)	Autosomal recessive spondylometaphyseal dysplasia, Megarbane type [RCV000167551]	pathogenic\|not provided	16	4340985	4340985	Human	1	name
401891923	CV2775812	single nucleotide variant	NM_001001991.3(PAMR1):c.14G>A (p.Cys5Tyr)	not specified [RCV004344852]	uncertain significance	11	35525572	35525572	Human		name
13820753	CV576172	single nucleotide variant	NM_016069.11(PAM16):c.112C>G (p.Arg38Gly)	Autosomal recessive spondylometaphyseal dysplasia, Megarbane type [RCV000709807]\|not provided [RCV002532893]	uncertain significance\|not provided	16	4341481	4341481	Human	1	name
14698231	CV624089	single nucleotide variant	NM_016069.11(PAM16):c.221A>C (p.Gln74Pro)	Autosomal recessive spondylometaphyseal dysplasia, Megarbane type [RCV000788051]	pathogenic	16	4341372	4341372	Human	1	name
150458151	CV1269592	single nucleotide variant	NM_016069.11(PAM16):c.340C>A (p.Gln114Lys)	not provided [RCV001693132]	benign	16	4340357	4340357	Human		name
151726254	CV1339665	single nucleotide variant	NM_016069.11(PAM16):c.355A>G (p.Lys119Glu)	not provided [RCV002004297]	uncertain significance	16	4340342	4340342	Human		name
151815120	CV1349976	single nucleotide variant	NM_016069.11(PAM16):c.374C>T (p.Thr125Met)	not provided [RCV002012827]\|not specified [RCV004045438]	uncertain significance	16	4340323	4340323	Human		name
151837851	CV1350126	single nucleotide variant	NM_016069.11(PAM16):c.299G>A (p.Arg100His)	not provided [RCV002014986]	uncertain significance	16	4340398	4340398	Human		name
151876747	CV1360308	single nucleotide variant	NM_016069.11(PAM16):c.310C>T (p.Arg104Cys)	not provided [RCV001907159]	uncertain significance	16	4340387	4340387	Human		name
151839234	CV1415181	single nucleotide variant	NM_016069.11(PAM16):c.340C>G (p.Gln114Glu)	not provided [RCV001921330]	uncertain significance	16	4340357	4340357	Human		name
151730468	CV1420566	single nucleotide variant	NM_016069.11(PAM16):c.307G>A (p.Glu103Lys)	not provided [RCV002041144]	uncertain significance	16	4340390	4340390	Human		name
401866976	CV2759057	single nucleotide variant	NM_001001991.3(PAMR1):c.46C>G (p.Leu16Val)	not specified [RCV004342362]	uncertain significance	11	35525540	35525540	Human		name
405758328	CV3367870	single nucleotide variant	NM_001001991.3(PAMR1):c.35C>G (p.Thr12Ser)	not specified [RCV004500190]	uncertain significance	11	35525551	35525551	Human		name
405758334	CV3367871	single nucleotide variant	NM_001001991.3(PAMR1):c.35C>T (p.Thr12Ile)	not specified [RCV004500191]	uncertain significance	11	35525551	35525551	Human		name
597716556	CV3575019	single nucleotide variant	NM_001001991.3(PAMR1):c.76T>C (p.Tyr26His)	not specified [RCV004841444]	uncertain significance	11	35494270	35494270	Human		name
155929373	CV2224541	single nucleotide variant	NM_001001991.3(PAMR1):c.266A>C (p.Glu89Ala)	not specified [RCV004098121]	uncertain significance	11	35492158	35492158	Human		name
401719345	CV2679503	single nucleotide variant	NM_001001991.3(PAMR1):c.160G>A (p.Val54Ile)	not specified [RCV004287807]	uncertain significance	11	35494186	35494186	Human		name
401870817	CV2792406	single nucleotide variant	NM_001001991.3(PAMR1):c.121A>G (p.Met41Val)	not specified [RCV004363160]	uncertain significance	11	35494225	35494225	Human		name
401904266	CV2816567	single nucleotide variant	NM_001001991.3(PAMR1):c.1902T>C (p.His634=)	not provided [RCV003394815]	likely benign	11	35432617	35432617	Human	1	name
401904266	CV2816567	single nucleotide variant	NM_001001991.3(PAMR1):c.1902T>C (p.His634=)	not provided [RCV003394815]	likely benign	11	35432617	35432618	Human	1	name
156379360	CV2214712	single nucleotide variant	NM_001001991.3(PAMR1):c.553C>T (p.Arg185Cys)	not specified [RCV004090529]	uncertain significance	11	35470760	35470760	Human		name
156336330	CV2228524	single nucleotide variant	NM_001001991.3(PAMR1):c.542A>G (p.Tyr181Cys)	not specified [RCV004092766]	uncertain significance	11	35470771	35470771	Human		name
155940052	CV2294018	single nucleotide variant	NM_001001991.3(PAMR1):c.520G>T (p.Asp174Tyr)	not specified [RCV004149410]	uncertain significance	11	35470793	35470793	Human		name
156173155	CV2326827	single nucleotide variant	NM_001001991.3(PAMR1):c.980G>T (p.Arg327Ile)	not specified [RCV004176660]	uncertain significance	11	35441534	35441534	Human		name
155930324	CV2361118	single nucleotide variant	NM_001001991.3(PAMR1):c.907C>T (p.Arg303Cys)	not specified [RCV004216310]	uncertain significance	11	35441607	35441607	Human		name
156086627	CV2366304	single nucleotide variant	NM_001001991.3(PAMR1):c.928G>A (p.Val310Met)	not specified [RCV004210317]	uncertain significance	11	35441586	35441586	Human		name
401741021	CV2680530	single nucleotide variant	NM_001001991.3(PAMR1):c.631G>C (p.Gly211Arg)	not specified [RCV004291164]	uncertain significance	11	35470682	35470682	Human		name
401864742	CV2778009	single nucleotide variant	NM_001001991.3(PAMR1):c.809G>A (p.Arg270His)	not specified [RCV004347967]	likely benign	11	35468012	35468012	Human		name
405758283	CV3367863	single nucleotide variant	NM_001001991.3(PAMR1):c.987C>G (p.Cys329Trp)	not specified [RCV004500183]	uncertain significance	11	35441527	35441527	Human		name
405758340	CV3367872	single nucleotide variant	NM_001001991.3(PAMR1):c.488A>G (p.Gln163Arg)	not specified [RCV004500192]	uncertain significance	11	35474636	35474636	Human	1	name
405758340	CV3367872	single nucleotide variant	NM_001001991.3(PAMR1):c.488A>G (p.Gln163Arg)	not specified [RCV004500192]	uncertain significance	11	35474636	35474637	Human	1	name
405758348	CV3367873	single nucleotide variant	NM_001001991.3(PAMR1):c.542A>C (p.Tyr181Ser)	not specified [RCV004500193]	uncertain significance	11	35470771	35470771	Human		name
405758354	CV3367874	single nucleotide variant	NM_001001991.3(PAMR1):c.607C>T (p.Arg203Trp)	not specified [RCV004500194]	uncertain significance	11	35470706	35470706	Human		name
405758361	CV3367875	single nucleotide variant	NM_001001991.3(PAMR1):c.679G>A (p.Asp227Asn)	not specified [RCV004500195]	uncertain significance	11	35470634	35470634	Human		name
405758377	CV3367877	single nucleotide variant	NM_001001991.3(PAMR1):c.682G>A (p.Gly228Ser)	not specified [RCV004500197]	uncertain significance	11	35470631	35470631	Human		name
405758383	CV3367878	single nucleotide variant	NM_001001991.3(PAMR1):c.847C>A (p.Pro283Thr)	not specified [RCV004500198]	uncertain significance	11	35441667	35441667	Human		name
405758390	CV3367879	single nucleotide variant	NM_001001991.3(PAMR1):c.863A>G (p.Asn288Ser)	not specified [RCV004500199]	uncertain significance	11	35441651	35441651	Human		name
407479392	CV3466400	single nucleotide variant	NM_001001991.3(PAMR1):c.851G>T (p.Gly284Val)	not specified [RCV004664122]	uncertain significance	11	35441663	35441663	Human		name
597716630	CV3571135	single nucleotide variant	NM_001001991.3(PAMR1):c.528G>A (p.Met176Ile)	not specified [RCV004841452]	uncertain significance	11	35470785	35470785	Human		name
597716547	CV3575018	single nucleotide variant	NM_001001991.3(PAMR1):c.544G>A (p.Val182Ile)	not specified [RCV004841443]	uncertain significance	11	35470769	35470769	Human		name
597716567	CV3575020	single nucleotide variant	NM_001001991.3(PAMR1):c.974A>G (p.Glu325Gly)	not specified [RCV004841445]	uncertain significance	11	35441540	35441540	Human		name
597716577	CV3575021	single nucleotide variant	NM_001001991.3(PAMR1):c.657C>G (p.His219Gln)	not specified [RCV004841446]	uncertain significance	11	35470656	35470656	Human		name
597716604	CV3575025	single nucleotide variant	NM_001001991.3(PAMR1):c.568C>A (p.Arg190Ser)	not specified [RCV004841449]	likely benign	11	35470745	35470745	Human		name
597716612	CV3575026	single nucleotide variant	NM_001001991.3(PAMR1):c.406A>G (p.Lys136Glu)	not specified [RCV004841450]	uncertain significance	11	35474718	35474718	Human		name
598259001	CV4005752	single nucleotide variant	NM_001001991.3(PAMR1):c.364G>A (p.Gly122Arg)	not specified [RCV005386395]	uncertain significance	11	35492060	35492060	Human		name
598184947	CV4005754	single nucleotide variant	NM_001001991.3(PAMR1):c.724T>G (p.Ser242Ala)	not specified [RCV005395530]	uncertain significance	11	35468097	35468097	Human		name
598259017	CV4005757	single nucleotide variant	NM_001001991.3(PAMR1):c.989A>G (p.Gln330Arg)	not specified [RCV005386398]	uncertain significance	11	35441525	35441525	Human		name
156317227	CV2203936	single nucleotide variant	NM_001001991.3(PAMR1):c.1312C>T (p.Arg438Trp)	not specified [RCV004069984]	uncertain significance	11	35435924	35435924	Human		name
155985053	CV2241186	single nucleotide variant	NM_001001991.3(PAMR1):c.1925G>A (p.Ser642Asn)	not specified [RCV004104209]	uncertain significance	11	35432594	35432594	Human		name
156181904	CV2246345	single nucleotide variant	NM_001001991.3(PAMR1):c.1177G>A (p.Ala393Thr)	not specified [RCV004107787]	uncertain significance	11	35436059	35436059	Human		name
156034836	CV2282930	single nucleotide variant	NM_001001991.3(PAMR1):c.2142G>T (p.Trp714Cys)	not specified [RCV004143570]	uncertain significance	11	35432377	35432377	Human		name
156210304	CV2309669	single nucleotide variant	NM_001001991.3(PAMR1):c.1076T>A (p.Val359Asp)	not specified [RCV004160811]	uncertain significance	11	35439651	35439651	Human		name
156348291	CV2312710	single nucleotide variant	NM_001001991.3(PAMR1):c.1570T>G (p.Leu524Val)	not specified [RCV004169436]	uncertain significance	11	35434568	35434568	Human		name
156273926	CV2334067	single nucleotide variant	NM_001001991.3(PAMR1):c.1129G>A (p.Ala377Thr)	not specified [RCV004183583]	uncertain significance	11	35436107	35436107	Human		name
155969282	CV2337938	single nucleotide variant	NM_001001991.3(PAMR1):c.1540A>G (p.Met514Val)	not specified [RCV004183943]	likely benign	11	35434598	35434598	Human		name
156084743	CV2343319	single nucleotide variant	NM_001001991.3(PAMR1):c.1754G>A (p.Arg585Gln)	not specified [RCV004194936]	uncertain significance	11	35432765	35432765	Human		name
156219741	CV2344931	single nucleotide variant	NM_001001991.3(PAMR1):c.1711C>T (p.Arg571Cys)	not specified [RCV004191060]	uncertain significance	11	35432808	35432808	Human		name
156385583	CV2364513	single nucleotide variant	NM_001001991.3(PAMR1):c.1852C>T (p.Arg618Cys)	not specified [RCV004217377]	uncertain significance	11	35432667	35432667	Human		name
156386727	CV2364828	single nucleotide variant	NM_001001991.3(PAMR1):c.1420G>A (p.Gly474Arg)	not specified [RCV004219691]	uncertain significance	11	35434718	35434718	Human		name
401878832	CV2754842	single nucleotide variant	NM_001001991.3(PAMR1):c.1313G>A (p.Arg438Gln)	not provided [RCV004696493]\|not specified [RCV004341318]	uncertain significance	11	35435923	35435923	Human		name
401893634	CV2760003	single nucleotide variant	NM_001001991.3(PAMR1):c.1712G>A (p.Arg571His)	not specified [RCV004345416]	uncertain significance	11	35432807	35432807	Human		name
401880808	CV2763145	single nucleotide variant	NM_001001991.3(PAMR1):c.2041C>T (p.Pro681Ser)	not specified [RCV004336188]	uncertain significance	11	35432478	35432478	Human		name
401860205	CV2765492	single nucleotide variant	NM_001001991.3(PAMR1):c.1586G>A (p.Arg529Gln)	not specified [RCV004341803]	uncertain significance	11	35434552	35434552	Human		name
405051105	CV3081648	single nucleotide variant	NM_001001991.3(PAMR1):c.1382G>A (p.Arg461His)	not provided [RCV003740611]\|not specified [RCV004374378]	uncertain significance	11	35434756	35434756	Human		name
405758291	CV3367864	single nucleotide variant	NM_001001991.3(PAMR1):c.1262G>A (p.Arg421His)	not specified [RCV004500184]	uncertain significance	11	35435974	35435974	Human		name
405758299	CV3367865	single nucleotide variant	NM_001001991.3(PAMR1):c.1286G>A (p.Cys429Tyr)	not specified [RCV004500185]	uncertain significance	11	35435950	35435950	Human		name
405758305	CV3367866	single nucleotide variant	NM_001001991.3(PAMR1):c.1721C>T (p.Thr574Ile)	not specified [RCV004500186]	uncertain significance	11	35432798	35432798	Human		name
405758312	CV3367867	single nucleotide variant	NM_001001991.3(PAMR1):c.1853G>A (p.Arg618His)	not specified [RCV004500187]	uncertain significance	11	35432666	35432666	Human		name
405758317	CV3367868	single nucleotide variant	NM_001001991.3(PAMR1):c.2006C>T (p.Ala669Val)	not specified [RCV004500188]	uncertain significance	11	35432513	35432513	Human		name
405758322	CV3367869	single nucleotide variant	NM_001001991.3(PAMR1):c.2021C>T (p.Pro674Leu)	not specified [RCV004500189]	uncertain significance	11	35432498	35432498	Human		name
407479380	CV3466395	single nucleotide variant	NM_001001991.3(PAMR1):c.2000G>A (p.Gly667Asp)	not specified [RCV004664119]	uncertain significance	11	35432519	35432519	Human		name
407479384	CV3466396	single nucleotide variant	NM_001001991.3(PAMR1):c.1819G>A (p.Val607Met)	not specified [RCV004664120]	uncertain significance	11	35432700	35432700	Human		name
407479388	CV3466397	single nucleotide variant	NM_001001991.3(PAMR1):c.1034C>T (p.Ala345Val)	not specified [RCV004664121]	uncertain significance	11	35439693	35439693	Human		name
407517919	CV3466398	single nucleotide variant	NM_001001991.3(PAMR1):c.1588G>A (p.Asp530Asn)	not specified [RCV004650827]	uncertain significance	11	35434550	35434550	Human		name
407517922	CV3466399	single nucleotide variant	NM_001001991.3(PAMR1):c.1258C>T (p.Arg420Cys)	not specified [RCV004650828]	uncertain significance	11	35435978	35435978	Human		name
597716642	CV3571136	single nucleotide variant	NM_001001991.3(PAMR1):c.1202T>C (p.Met401Thr)	not specified [RCV004841453]	likely benign	11	35436034	35436034	Human		name
597716649	CV3571137	single nucleotide variant	NM_001001991.3(PAMR1):c.1199C>A (p.Pro400His)	not specified [RCV004841454]	uncertain significance	11	35436037	35436037	Human		name
597716658	CV3571138	single nucleotide variant	NM_001001991.3(PAMR1):c.1446G>T (p.Lys482Asn)	not specified [RCV004841455]	uncertain significance	11	35434692	35434692	Human		name
597716587	CV3575022	single nucleotide variant	NM_001001991.3(PAMR1):c.2011G>A (p.Val671Met)	not specified [RCV004841447]	uncertain significance	11	35432508	35432508	Human		name
597716595	CV3575024	single nucleotide variant	NM_001001991.3(PAMR1):c.1432G>A (p.Gly478Ser)	not specified [RCV004841448]	uncertain significance	11	35434706	35434706	Human		name
597716620	CV3575027	single nucleotide variant	NM_001001991.3(PAMR1):c.1793T>C (p.Val598Ala)	not specified [RCV004841451]	uncertain significance	11	35432726	35432726	Human		name
598259006	CV4005753	single nucleotide variant	NM_001001991.3(PAMR1):c.1864G>T (p.Val622Phe)	not specified [RCV005386396]	uncertain significance	11	35432655	35432655	Human		name
598259011	CV4005756	single nucleotide variant	NM_001001991.3(PAMR1):c.1339G>A (p.Gly447Arg)	not specified [RCV005386397]	uncertain significance	11	35434799	35434799	Human		name
598259022	CV4005758	single nucleotide variant	NM_001001991.3(PAMR1):c.1541T>C (p.Met514Thr)	not specified [RCV005386399]	uncertain significance	11	35434597	35434597	Human		name
598259026	CV4005759	single nucleotide variant	NM_001001991.3(PAMR1):c.1018C>T (p.Pro340Ser)	not specified [RCV005386400]	uncertain significance	11	35441496	35441496	Human		name
598259031	CV4005760	single nucleotide variant	NM_001001991.3(PAMR1):c.2024G>A (p.Gly675Glu)	not specified [RCV005386401]	uncertain significance	11	35432495	35432495	Human		name
150455048	CV1220399	single nucleotide variant	NM_001201479.2(CORO7-PAM16):c.578G>A (p.Arg193Gln)	not provided [RCV001612492]	benign	16	4395326	4395326	Human	3	name
329358176	CV2427966	single nucleotide variant	NM_001201479.2(CORO7-PAM16):c.2626C>T (p.Arg876Trp)	not specified [RCV004254349]	uncertain significance	16	4357227	4357227	Human		name
405685547	CV3235704	single nucleotide variant	NM_001201479.2(CORO7-PAM16):c.2833C>T (p.Arg945Trp)	not specified [RCV004372218]	uncertain significance	16	4343231	4343231	Human		name
405685267	CV3235705	single nucleotide variant	NM_001201479.2(CORO7-PAM16):c.2843G>A (p.Arg948Gln)	not specified [RCV004372219]	uncertain significance	16	4343221	4343221	Human		name
405685272	CV3235706	single nucleotide variant	NM_001201479.2(CORO7-PAM16):c.2890G>A (p.Ala964Thr)	not specified [RCV004372220]	uncertain significance	16	4341472	4341472	Human		name
405685277	CV3235707	single nucleotide variant	NM_001201479.2(CORO7-PAM16):c.2999A>G (p.Tyr1000Cys)	not specified [RCV004372221]	uncertain significance	16	4340981	4340981	Human		name
405685285	CV3235708	single nucleotide variant	NM_001201479.2(CORO7-PAM16):c.3001G>A (p.Glu1001Lys)	not specified [RCV004372222]	uncertain significance	16	4340979	4340979	Human		name
405685289	CV3235709	single nucleotide variant	NM_001201479.2(CORO7-PAM16):c.3022G>C (p.Asp1008His)	not specified [RCV004372223]	uncertain significance	16	4340958	4340958	Human		name

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