Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter)	SNV Germline	Chr4:5640789	Pathogenic	Ellis-van Creveld syndrome Short-rib thoracic dysplasia 6 with or without polydactyly Condition: not provided Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Multiple Submitters No Conflicts	CA116164	rs_137852924	10 SubmittersRCV000003550 RCV000516144 RCV000578498 RCV000763528
NM_147127.5(EVC2):c.1855C>T (p.Gln619Ter)	SNV Germline	Chr4:5628590	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Multiple Submitters No Conflicts	CA116167	rs_137852925	3 SubmittersRCV000003551 RCV001228211
NM_147127.5(EVC2):c.848T>G (p.Ile283Arg)	SNV Germline	Chr4:5681282	Pathogenic	Ellis-van Creveld syndrome	No Assertion Criteria Provided	CA116170	rs_137852926	1 SubmittersRCV000003552
NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter)	SNV Germline	Chr4:5576247	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA116172	rs_137852927	6 SubmittersRCV000003553 RCV000799858 RCV001265673
NM_153717.3(EVC):c.1886+5G>T	SNV Germline	Chr4:5793722	Pathogenic/Likely pathogenic	Ellis-van Creveld syndrome Condition: not provided Short-rib thoracic dysplasia 6 with or without polydactyly Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Multiple Submitters No Conflicts	CA212828	rs_794726665	7 SubmittersRCV000005666 RCV000438781 RCV000516013 RCV001851677
NM_153717.3(EVC):c.2635C>T (p.Gln879Ter)	SNV Germline	Chr4:5808274	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter	CA117414	rs_121908424	3 SubmittersRCV000005667 RCV001045109
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter)	SNV Germline	Chr4:5748226	Pathogenic	Ellis-van Creveld syndrome Condition: not provided Short-rib thoracic dysplasia 6 with or without polydactyly Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Multiple Submitters No Conflicts	CA117416	rs_121908425	11 SubmittersRCV000005668 RCV000255270 RCV000516113 RCV000807465
NM_153717.3(EVC):c.919T>C (p.Ser307Pro)	SNV Germline	Chr4:5745321	Pathogenic/Likely pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Multiple Submitters No Conflicts	CA117420	rs_121908426	6 SubmittersRCV000005672 RCV001383029
NM_147127.5(EVC2):c.707-2A>G	SNV Germline	Chr4:5685481	Pathogenic	Ellis-van Creveld syndrome	No Assertion Criteria Provided		rs_1302074641	1 SubmittersRCV000023641
NM_147127.5(EVC2):c.2653C>T (p.Arg885Ter)	SNV Germline	Chr4:5618531	Pathogenic	Ellis-van Creveld syndrome Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Multiple Submitters No Conflicts	CA213036	rs_146538906	3 SubmittersRCV000023642 RCV001852025
NM_147127.5(EVC2):c.3797T>G (p.Leu1266Ter)	SNV Germline	Chr4:5562978	Pathogenic	Curry-Hall syndrome Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter		rs_1577093161	2 SubmittersRCV000088667 RCV003764801
NM_147127.5(EVC2):c.18C>T (p.Ser6=)	SNV Germline	Chr4:5708496	Conflicting classifications of pathogenicity	Condition: not provided Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Conflicting Classifications	CA239034	rs_556910528	5 SubmittersRCV000173575 RCV001080231
NM_153717.3(EVC):c.8G>C (p.Arg3Pro)	SNV Germline	Chr4:5711388	Conflicting classifications of pathogenicity	not specified Condition: not provided Curry-Hall syndrome Ellis-van Creveld syndrome Ellis-van Creveld syndrome Inborn genetic diseases EVC-related disorder	Criteria Provided Conflicting Classifications	CA239040	rs_756852655	10 SubmittersRCV000173582 RCV000724435 RCV001085964 RCV001153146 RCV002516592 RCV003975261
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg)	SNV Germline	Chr4:5640620	Conflicting classifications of pathogenicity	not specified Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome Condition: not provided EVC2-related disorder	Criteria Provided Conflicting Classifications	CA200770	rs_141287105	10 SubmittersRCV000173922 RCV000680149 RCV000755525 RCV001572957 RCV003965251
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln)	SNV Germline	Chr4:5793657	Conflicting classifications of pathogenicity	not specified Ellis-van Creveld syndrome Condition: not provided Curry-Hall syndrome Ellis-van Creveld syndrome Inborn genetic diseases EVC-related disorder	Criteria Provided Conflicting Classifications	CA240165	rs_41269557	11 SubmittersRCV000174617 RCV000268280 RCV000724535 RCV001080715 RCV002516635 RCV003907562
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter)	SNV Germline	Chr4:5622775	Pathogenic/Likely pathogenic	Ellis-van Creveld syndrome Condition: not provided Ellis-van Creveld syndrome Curry-Hall syndrome Hereditary insensitivity to pain with anhidrosis RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA201188	rs_751356206	6 SubmittersRCV000174810 RCV000724018 RCV000763526 RCV004526625 RCV004539620
NM_147127.5(EVC2):c.2244C>T (p.Thr748=)	SNV Germline	Chr4:5622794	Conflicting classifications of pathogenicity	Condition: not provided Curry-Hall syndrome Ellis-van Creveld syndrome EVC2-related disorder	Criteria Provided Conflicting Classifications	CA240396	rs_146588335	4 SubmittersRCV000724347 RCV001082948 RCV003947477
NM_147127.5(EVC2):c.2301G>A (p.Gly767=)	SNV Germline	Chr4:5622737	Conflicting classifications of pathogenicity	Condition: not provided Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Conflicting Classifications	CA240398	rs_374178504	2 SubmittersRCV000174812 RCV002054060
NM_153717.3(EVC):c.1928G>A (p.Arg643His)	SNV Germline	Chr4:5797063	Conflicting classifications of pathogenicity	Condition: not provided Ellis-van Creveld syndrome Curry-Hall syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA240400	rs_144906677	3 SubmittersRCV000174813 RCV002517680 RCV004020071
NM_153717.3(EVC):c.2322G>C (p.Ala774=)	SNV Germline	Chr4:5801967	Conflicting classifications of pathogenicity	Condition: not provided Curry-Hall syndrome Ellis-van Creveld syndrome Ellis-van Creveld syndrome	Criteria Provided Conflicting Classifications	CA240795	rs_150373930	7 SubmittersRCV000175107 RCV001081648 RCV001153680
NM_153717.3(EVC):c.2305-6C>T	SNV Germline	Chr4:5801944	Conflicting classifications of pathogenicity	Condition: not provided Ellis-van Creveld syndrome Curry-Hall syndrome not specified	Criteria Provided Conflicting Classifications	CA240797	rs_781705295	3 SubmittersRCV000175108 RCV001079265 RCV003398888
NM_153717.3(EVC):c.569G>T (p.Arg190Leu)	SNV Germline	Chr4:5731609	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome Curry-Hall syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA245489	rs_113002470	5 SubmittersRCV001157455 RCV001563967 RCV002515263 RCV000178396 RCV002517731
NM_153717.3(EVC):c.469C>G (p.Pro157Ala)	SNV Germline	Chr4:5731509	Conflicting classifications of pathogenicity	not specified Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA202846	rs_146729456	12 SubmittersRCV000178397 RCV000341901 RCV000878090 RCV001354236 RCV002517732
NM_147127.5(EVC2):c.3141G>A (p.Trp1047Ter)	SNV Germline	Chr4:5576371	Pathogenic/Likely pathogenic	Ellis-van Creveld syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10575839	rs_886037764	3 SubmittersRCV000257943 RCV001781609
NM_147127.5(EVC2):c.2029C>A (p.Arg677=)	SNV Germline	Chr4:5625766	Conflicting classifications of pathogenicity	Condition: not provided not specified Ellis-van Creveld syndrome Ellis-van Creveld syndrome Curry-Hall syndrome EVC2-related disorder	Criteria Provided Conflicting Classifications	CA2834861	rs_73198165	8 SubmittersRCV000224436 RCV000345805 RCV001154618 RCV001082655 RCV003937874
NM_147127.5(EVC2):c.3837G>A (p.Lys1279=)	SNV Germline	Chr4:5562938	Conflicting classifications of pathogenicity	not specified Ellis-van Creveld syndrome Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Conflicting Classifications	CA2834174	rs_201651890	4 SubmittersRCV000251614 RCV000267298 RCV000917722
NM_153717.3(EVC):c.2298C>T (p.Asp766=)	SNV Germline	Chr4:5798786	Conflicting classifications of pathogenicity	not specified Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2836433	rs_140546984	4 SubmittersRCV000250676 RCV000886490 RCV001153679 RCV001722365
NM_147127.5(EVC2):c.2476C>T (p.Arg826Ter)	SNV Germline	Chr4:5622562	Pathogenic	Condition: not provided Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Multiple Submitters No Conflicts	CA2834715	rs_548681312	3 SubmittersRCV000393643 RCV000672927 RCV001040343
NM_147127.5(EVC2):c.1823G>A (p.Arg608His)	SNV Germline	Chr4:5628622	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Condition: not provided Curry-Hall syndrome Ellis-van Creveld syndrome Type IV short rib polydactyly syndrome	Criteria Provided Conflicting Classifications	CA2834927	rs_145693546	9 SubmittersRCV000340148 RCV000386025 RCV001085529 RCV000515816
NM_153717.3(EVC):c.550G>A (p.Asp184Asn)	SNV Germline	Chr4:5731590	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Condition: not provided Curry-Hall syndrome Ellis-van Creveld syndrome EVC-related disorder not specified	Criteria Provided Conflicting Classifications	CA2835734	rs_41269549	14 SubmittersRCV000334802 RCV000725205 RCV001083825 RCV003930073 RCV003479090
NM_153717.3(EVC):c.1653G>A (p.Pro551=)	SNV Germline	Chr4:5783641	Conflicting classifications of pathogenicity	Condition: not provided Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Conflicting Classifications	CA2836213	rs_151293705	3 SubmittersRCV000725216 RCV001085528
NM_153717.3(EVC):c.1892C>T (p.Thr631Met)	SNV Germline	Chr4:5797027	Conflicting classifications of pathogenicity	Condition: not provided Curry-Hall syndrome Ellis-van Creveld syndrome Ellis-van Creveld syndrome	Criteria Provided Conflicting Classifications	CA2836311	rs_139481521	3 SubmittersRCV000343430 RCV001327716 RCV001828192
NM_153717.3(EVC):c.1540G>A (p.Glu514Lys)	SNV Germline	Chr4:5756339	Conflicting classifications of pathogenicity	Condition: not provided Curry-Hall syndrome Ellis-van Creveld syndrome Ellis-van Creveld syndrome	Criteria Provided Conflicting Classifications	CA2836151	rs_141896077	3 SubmittersRCV000260082 RCV001303664 RCV001828193
NM_153717.3(EVC):c.2449+10C>A	SNV Germline	Chr4:5802104	Conflicting classifications of pathogenicity	Condition: not provided Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Conflicting Classifications	CA2836504	rs_758387379	2 SubmittersRCV000369705 RCV001086991
NM_147127.5(EVC2):c.2517A>G (p.Ser839=)	SNV Germline	Chr4:5618667	Conflicting classifications of pathogenicity	Condition: not provided Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Conflicting Classifications	CA2834677	rs_756424912	2 SubmittersRCV000286666 RCV001088663
NM_153717.3(EVC):c.1349C>T (p.Ala450Val)	SNV Germline	Chr4:5753818	Conflicting classifications of pathogenicity	Condition: not provided Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Conflicting Classifications	CA2836076	rs_749008952	3 SubmittersRCV000306837 RCV002518980
NM_147127.5(EVC2):c.126C>T (p.Leu42=)	SNV Germline	Chr4:5708388	Conflicting classifications of pathogenicity	Condition: not provided Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Conflicting Classifications	CA2835554	rs_781009014	2 SubmittersRCV000295874 RCV001085651
NM_147127.5(EVC2):c.2340C>T (p.His780=)	SNV Germline	Chr4:5622698	Conflicting classifications of pathogenicity	Condition: not provided Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Conflicting Classifications	CA2834750	rs_150691722	3 SubmittersRCV000364333 RCV001085051 RCV001155336
NM_153717.3(EVC):c.89C>T (p.Pro30Leu)	SNV Germline	Chr4:5711469	Conflicting classifications of pathogenicity	Condition: not provided Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome not specified EVC-related disorder	Criteria Provided Conflicting Classifications	CA10606907	rs_886044558	9 SubmittersRCV000398177 RCV000536411 RCV001153149 RCV003479096 RCV003977813
NM_147127.5(EVC2):c.3659+2T>C	SNV Germline	Chr4:5565256	Pathogenic/Likely pathogenic	Condition: not provided Ellis-van Creveld syndrome Ellis-van Creveld syndrome Curry-Hall syndrome EVC2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA2834238	rs_200300612	6 SubmittersRCV000521259 RCV000665483 RCV000695869 RCV003922532
NM_147127.5(EVC2):c.3272+7C>T	SNV Germline	Chr4:5576233	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2834396	rs_201048030	3 SubmittersRCV000388698 RCV000878616 RCV001812887
NM_147127.5(EVC2):c.2829+9A>C	SNV Germline	Chr4:5615413	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Conflicting Classifications	CA2834570	rs_370232376	2 SubmittersRCV000271152 RCV000946261
NM_147127.5(EVC2):c.2039T>C (p.Leu680Pro)	SNV Germline	Chr4:5625756	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome EVC2-related disorder Ellis-van Creveld syndrome Curry-Hall syndrome not specified	Criteria Provided Conflicting Classifications	CA2834859	rs_148407223	4 SubmittersRCV000406998 RCV003932421 RCV002520251 RCV003479103
NM_147127.5(EVC2):c.1498C>A (p.Arg500=)	SNV Germline	Chr4:5632005	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Conflicting Classifications	CA2835029	rs_148248777	2 SubmittersRCV000297151 RCV000980610
NM_147127.5(EVC2):c.446G>A (p.Arg149His)	SNV Germline	Chr4:5694339	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2835466	rs_202198132	3 SubmittersRCV000392759 RCV001812895 RCV004021963
NM_153717.3(EVC):c.105C>A (p.Gly35=)	SNV Germline	Chr4:5711485	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Ellis-van Creveld syndrome Curry-Hall syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2835569	rs_745558003	4 SubmittersRCV000290874 RCV000884781 RCV001310825
NM_153717.3(EVC):c.612C>T (p.Cys204=)	SNV Germline	Chr4:5731652	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Conflicting Classifications	CA2835743	rs_553634958	2 SubmittersRCV000313721 RCV000878681
NM_153717.3(EVC):c.934G>A (p.Asp312Asn)	SNV Germline	Chr4:5745336	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Ellis-van Creveld syndrome Curry-Hall syndrome not specified Condition: not provided EVC-related disorder	Criteria Provided Conflicting Classifications	CA2835913	rs_115275195	8 SubmittersRCV000327158 RCV000945501 RCV000507948 RCV001796743 RCV003902349
NM_153717.3(EVC):c.1462G>A (p.Glu488Lys)	SNV Germline	Chr4:5753931	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Ellis-van Creveld syndrome Curry-Hall syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2836107	rs_146232611	3 SubmittersRCV000276458 RCV002520258 RCV004021967
NM_153717.3(EVC):c.1818A>C (p.Thr606=)	SNV Germline	Chr4:5793649	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Condition: not provided Ellis-van Creveld syndrome Curry-Hall syndrome not specified	Criteria Provided Conflicting Classifications	CA2836276	rs_202093497	4 SubmittersRCV000271821 RCV000831517 RCV001086649 RCV004525921
NM_153717.3(EVC):c.2869G>A (p.Gly957Arg)	SNV Germline	Chr4:5810425	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Condition: not provided Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Conflicting Classifications	CA2836717	rs_35926225	4 SubmittersRCV000327257 RCV001591010 RCV000951965
NM_147127.5(EVC2):c.3174G>A (p.Leu1058=)	SNV Germline	Chr4:5576338	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Conflicting Classifications	CA2834424	rs_555652075	2 SubmittersRCV000335220 RCV000939676
NM_147127.5(EVC2):c.2667C>T (p.Phe889=)	SNV Germline	Chr4:5618517	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Conflicting Classifications	CA2834635	rs_201173415	2 SubmittersRCV000332340 RCV000977285
NM_153717.3(EVC):c.442T>C (p.Leu148=)	SNV Germline	Chr4:5731482	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Ellis-van Creveld syndrome Curry-Hall syndrome Condition: not provided EVC-related disorder	Criteria Provided Conflicting Classifications	CA2835702	rs_139931919	5 SubmittersRCV000289304 RCV000951716 RCV001653677 RCV003932422
NM_153717.3(EVC):c.2276G>A (p.Ser759Asn)	SNV Germline	Chr4:5798764	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Ellis-van Creveld syndrome Curry-Hall syndrome Inborn genetic diseases EVC-related disorder	Criteria Provided Conflicting Classifications	CA2836430	rs_201776972	4 SubmittersRCV000331568 RCV000971701 RCV003278784 RCV003950234
NM_153717.3(EVC):c.2391C>T (p.Ile797=)	SNV Germline	Chr4:5802036	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Conflicting Classifications	CA2836481	rs_202236029	2 SubmittersRCV000332985 RCV001450677
NM_153717.3(EVC):c.2449+12C>G	SNV Germline	Chr4:5802106	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Conflicting Classifications	CA2836505	rs_751678723	2 SubmittersRCV000285710 RCV002057939
NM_147127.5(EVC2):c.2706+13T>C	SNV Germline	Chr4:5618465	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Conflicting Classifications	CA2834619	rs_200000369	2 SubmittersRCV000274778 RCV002061245
NM_147127.5(EVC2):c.*90C>T	SNV Germline	Chr4:5562758	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10621275	rs_115810595	2 SubmittersRCV000302500 RCV001795967
NM_147127.5(EVC2):c.2864G>A (p.Arg955Gln)	SNV Germline	Chr4:5584816	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Ellis-van Creveld syndrome Curry-Hall syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2834538	rs_145786485	3 SubmittersRCV000363469 RCV002520248 RCV002520247
NM_147127.5(EVC2):c.2644A>G (p.Thr882Ala)	SNV Germline	Chr4:5618540	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Conflicting Classifications	CA2834641	rs_190540235	2 SubmittersRCV000389188 RCV000966668
NM_147127.5(EVC2):c.1886+11A>G	SNV Germline	Chr4:5628548	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Conflicting Classifications	CA2834910	rs_61218140	2 SubmittersRCV000289649 RCV002057932
NM_153717.3(EVC):c.802-12C>T	SNV Germline	Chr4:5745192	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Condition: not provided Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Conflicting Classifications	CA2835881	rs_61514191	3 SubmittersRCV000315095 RCV001564892 RCV002057936
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys)	SNV Germline	Chr4:5753838	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome not specified Condition: not provided EVC-related disorder	Criteria Provided Conflicting Classifications	CA2836082	rs_141859946	11 SubmittersRCV000356036 RCV000542079 RCV000609966 RCV001573985 RCV003902350
NM_147127.5(EVC2):c.615G>A (p.Leu205=)	SNV Germline	Chr4:5689248	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Ellis-van Creveld syndrome Curry-Hall syndrome EVC2-related disorder	Criteria Provided Conflicting Classifications	CA2835385	rs_140864640	3 SubmittersRCV000400850 RCV000889252 RCV003970007
NM_153717.3(EVC):c.1528G>A (p.Val510Ile)	SNV Germline	Chr4:5756327	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome not specified Curry-Hall syndrome Ellis-van Creveld syndrome Condition: not provided Inborn genetic diseases EVC-related disorder	Criteria Provided Conflicting Classifications	CA2836147	rs_143971158	9 SubmittersRCV000378158 RCV000613661 RCV001080199 RCV001573028 RCV003168537 RCV003902351
NM_153717.3(EVC):c.982C>T (p.Leu328Phe)	SNV Germline	Chr4:5748190	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2835953	rs_199916502	4 SubmittersRCV000894732 RCV000673224 RCV001569130
NM_153717.3(EVC):c.1797G>A (p.Ala599=)	SNV Germline	Chr4:5793628	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Conflicting Classifications	CA2836271	rs_199875230	2 SubmittersRCV000270802 RCV000952178
NM_153717.3(EVC):c.1696G>A (p.Ala566Thr)	SNV Germline	Chr4:5783684	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Ellis-van Creveld syndrome Curry-Hall syndrome not specified	Criteria Provided Conflicting Classifications	CA2836229	rs_144943762	4 SubmittersRCV000400680 RCV000972015 RCV003993937
NM_153717.3(EVC):c.1852G>A (p.Gly618Ser)	SNV Germline	Chr4:5793683	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Conflicting Classifications	CA2836282	rs_777024713	2 SubmittersRCV000373289 RCV002057938
NM_153717.3(EVC):c.1956C>T (p.Arg652=)	SNV Germline	Chr4:5797091	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Conflicting Classifications	CA2836329	rs_535012160	2 SubmittersRCV000399954 RCV001480990
NM_153717.3(EVC):c.2102C>T (p.Ala701Val)	SNV Germline	Chr4:5798590	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Inborn genetic diseases Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Conflicting Classifications	CA2836389	rs_571809727	3 SubmittersRCV000305465 RCV002523472 RCV002520260
NM_153717.3(EVC):c.1722C>T (p.Arg574=)	SNV Germline	Chr4:5783710	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Conflicting Classifications	CA2836235	rs_144637923	2 SubmittersRCV000400477 RCV001455551
NM_153717.3(EVC):c.1878C>T (p.Leu626=)	SNV Germline	Chr4:5793709	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Conflicting Classifications	CA2836289	rs_375743004	2 SubmittersRCV000307909 RCV000909716
NM_153717.3(EVC):c.2562-3C>T	SNV Germline	Chr4:5808198	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Ellis-van Creveld syndrome Curry-Hall syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2836612	rs_375960614	3 SubmittersRCV000311201 RCV000951863 RCV003992281
NM_153717.3(EVC):c.2961G>A (p.Lys987=)	SNV Germline	Chr4:5811019	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Conflicting Classifications	CA2836776	rs_138808610	2 SubmittersRCV000295131 RCV000966565
NM_153717.3(EVC):c.802-1G>C	SNV Unknown	Chr4:5745203	Likely pathogenic	Ellis-van Creveld syndrome	Criteria Provided Single Submitter	CA16040958	rs_150814290	1 SubmittersRCV000409380
NM_147127.5(EVC2):c.264C>A (p.Cys88Ter)	SNV Germline	Chr4:5697612	Pathogenic/Likely pathogenic	Condition: not provided Ellis-van Creveld syndrome Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16042489	rs_965707319	3 SubmittersRCV000414626 RCV000670598 RCV001861425
NM_153717.3(EVC):c.2712C>T (p.Ser904=)	SNV Germline	Chr4:5809541	Conflicting classifications of pathogenicity	not specified Curry-Hall syndrome Ellis-van Creveld syndrome Ellis-van Creveld syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2836667	rs_146829332	4 SubmittersRCV000419813 RCV000945584 RCV001157954 RCV003114563
NM_147127.5(EVC2):c.887G>C (p.Gly296Ala)	SNV Germline	Chr4:5665633	Conflicting classifications of pathogenicity	Condition: not provided Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Conflicting Classifications	CA2835239	rs_201083070	3 SubmittersRCV000756099 RCV001079719
NM_147127.5(EVC2):c.2897C>T (p.Ser966Leu)	SNV Germline	Chr4:5584783	Conflicting classifications of pathogenicity	Condition: not provided Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Conflicting Classifications	CA2834530	rs_145425340	3 SubmittersRCV000489134 RCV000765771
NM_147127.5(EVC2):c.645G>A (p.Trp215Ter)	SNV Germline	Chr4:5689218	Pathogenic	not specified Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Multiple Submitters No Conflicts	CA2835380	rs_779857359	2 SubmittersRCV000505905 RCV001857266
NM_153717.3(EVC):c.2821C>T (p.Gln941Ter)	SNV Germline	Chr4:5810377	Conflicting classifications of pathogenicity	Condition: not provided Ellis-van Creveld syndrome Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Conflicting Classifications	CA91728088	rs_896581899	3 SubmittersRCV000513812 RCV000674041 RCV001215786
NM_147127.5(EVC2):c.3360+1G>A	SNV Germline	Chr4:5574684	Pathogenic/Likely pathogenic	Jeune thoracic dystrophy Ellis-van Creveld syndrome Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Multiple Submitters No Conflicts	CA356150501	rs_1553815019	4 SubmittersRCV000516027 RCV000673627 RCV003766905
NM_147127.5(EVC2):c.3121C>T (p.Gln1041Ter)	SNV Germline	Chr4:5576391	Pathogenic/Likely pathogenic	Type IV short rib polydactyly syndrome Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome EVC2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA2834441	rs_376133710	6 SubmittersRCV000516007 RCV001228575 RCV003987575 RCV003979919
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter)	SNV Germline	Chr4:5631795	Pathogenic	Short-rib thoracic dysplasia 6 with or without polydactyly Type IV short rib polydactyly syndrome Ellis-van Creveld syndrome Ellis-van Creveld syndrome Curry-Hall syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA2834978	rs_769864196	8 SubmittersRCV000515819 RCV000516102 RCV000666197 RCV001245243 RCV001574376
NM_147127.5(EVC2):c.619G>T (p.Asp207Tyr)	SNV Germline	Chr4:5689244	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Ellis-van Creveld syndrome Ellis-van Creveld syndrome Curry-Hall syndrome EVC2-related disorder	Criteria Provided Conflicting Classifications	CA2835384	rs_761707323	5 SubmittersRCV000516039 RCV000667862 RCV001388085 RCV003915444
NM_153717.3(EVC):c.363C>A (p.Tyr121Ter)	SNV Germline	Chr4:5729369	Pathogenic/Likely pathogenic	Short-rib thoracic dysplasia 6 with or without polydactyly Ellis-van Creveld syndrome Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Multiple Submitters No Conflicts	CA91718338	rs_748523193	5 SubmittersRCV000516149 RCV000665849 RCV001045278
NM_153717.3(EVC):c.1500G>A (p.Met500Ile)	SNV Germline	Chr4:5756299	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome Condition: not provided EVC-related disorder	Criteria Provided Conflicting Classifications	CA2836142	rs_149898884	7 SubmittersRCV000673759 RCV000878646 RCV003159658 RCV003905290
NM_153717.3(EVC):c.1668C>G (p.Tyr556Ter)	SNV Germline	Chr4:5783656	Pathogenic	Ellis-van Creveld syndrome Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter	CA356160943	rs_765269619	3 SubmittersRCV000516024 RCV003766903
NM_147127.5(EVC2):c.2652G>A (p.Trp884Ter)	SNV Germline	Chr4:5618532	Pathogenic/Likely pathogenic	Condition: not provided Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Multiple Submitters No Conflicts	CA91696925	rs_981099037	2 SubmittersRCV000523403 RCV002525122
NM_153717.3(EVC):c.2164C>T (p.Gln722Ter)	SNV Germline	Chr4:5798652	Pathogenic/Likely pathogenic	Condition: not provided Ellis-van Creveld syndrome Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Multiple Submitters No Conflicts	CA356145068	rs_1553891936	3 SubmittersRCV000522119 RCV000674284 RCV001050511
NM_181426.2(CCDC39):c.1795C>T (p.Arg599Ter)	SNV Germline	Chr3:180642072	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Ellis-van Creveld syndrome Primary ciliary dyskinesia 14 Condition: not provided	Criteria Provided Conflicting Classifications	CA2715872	rs_201780665	5 SubmittersRCV000552448 RCV000754965 RCV001289545 RCV002223222
NM_153717.3(EVC):c.1684C>T (p.Gln562Ter)	SNV Germline	Chr4:5783672	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA2836221	rs_751772225	2 SubmittersRCV001383173 RCV001811028
NM_153717.3(EVC):c.617G>A (p.Ser206Asn)	SNV Germline	Chr4:5731657	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Conflicting Classifications	CA91720320	rs_1017946059	4 SubmittersRCV000548054 RCV000673804
NM_147127.5(EVC2):c.913G>T (p.Ala305Ser)	SNV Germline	Chr4:5665607	Conflicting classifications of pathogenicity	Curry-Hall syndrome Ellis-van Creveld syndrome not specified Ellis-van Creveld syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2835223	rs_150367317	5 SubmittersRCV000550439 RCV000734269 RCV001151786 RCV001567553
NM_153717.3(EVC):c.2894+3A>G	SNV Germline	Chr4:5810453	Pathogenic/Likely pathogenic	Ellis-van Creveld syndrome Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Multiple Submitters No Conflicts	CA549409031	rs_1424976594	5 SubmittersRCV000578283 RCV001049990
NM_153717.3(EVC):c.1315+8G>A	SNV Germline	Chr4:5753060	Conflicting classifications of pathogenicity	Condition: not provided Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Conflicting Classifications	CA2836054	rs_550411377	3 SubmittersRCV000593614 RCV001088560 RCV001273621
NM_147127.5(EVC2):c.463T>C (p.Ser155Pro)	SNV Germline	Chr4:5691321	Conflicting classifications of pathogenicity	not specified Condition: not provided Ellis-van Creveld syndrome Curry-Hall syndrome EVC2-related disorder	Criteria Provided Conflicting Classifications	CA2835440	rs_143388379	5 SubmittersRCV000595037 RCV000757233 RCV001083331 RCV003945392
NM_153717.3(EVC):c.1041G>A (p.Thr347=)	SNV Germline	Chr4:5748249	Conflicting classifications of pathogenicity	Condition: not provided Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Conflicting Classifications	CA2835967	rs_148418233	3 SubmittersRCV000596370 RCV001083089 RCV001271200
NM_153717.3(EVC):c.1315+7C>T	SNV Germline	Chr4:5753059	Conflicting classifications of pathogenicity	Condition: not provided Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Conflicting Classifications	CA658796417	rs_1252318929	2 SubmittersRCV000596511 RCV002062049
NM_153717.3(EVC):c.1851C>G (p.Arg617=)	SNV Germline	Chr4:5793682	Conflicting classifications of pathogenicity	Condition: not provided Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Conflicting Classifications	CA438203943	rs_967986192	2 SubmittersRCV000594161 RCV001089164
NM_147127.5(EVC2):c.129C>T (p.Gly43=)	SNV Germline	Chr4:5708385	Conflicting classifications of pathogenicity	Condition: not provided Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Conflicting Classifications	CA438206085	rs_985034372	2 SubmittersRCV000593229 RCV001361751
NM_153717.3(EVC):c.1940G>A (p.Arg647Gln)	SNV Germline	Chr4:5797075	Conflicting classifications of pathogenicity	Condition: not provided Ellis-van Creveld syndrome Curry-Hall syndrome EVC-related disorder not specified	Criteria Provided Conflicting Classifications	CA2836326	rs_35401386	5 SubmittersRCV000597585 RCV001084491 RCV003952980 RCV003994039
NM_153717.3(EVC):c.93C>G (p.Ala31=)	SNV Germline	Chr4:5711473	Conflicting classifications of pathogenicity	Condition: not provided Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome EVC-related disorder	Criteria Provided Conflicting Classifications	CA91734939	rs_866226288	4 SubmittersRCV000594456 RCV001426483 RCV001834897 RCV003945414
NM_147127.5(EVC2):c.1169G>A (p.Arg390Gln)	SNV Germline	Chr4:5640815	Conflicting classifications of pathogenicity	Condition: not provided Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Conflicting Classifications	CA2835127	rs_367655073	3 SubmittersRCV000594247 RCV001086905
NM_153717.3(EVC):c.384G>T (p.Arg128=)	SNV Germline	Chr4:5729390	Likely pathogenic	Ellis-van Creveld syndrome	No Assertion Criteria Provided	CA438204026	rs_1553865346	1 SubmittersRCV000625587
NM_153717.3(EVC):c.1770C>T (p.Asp590=)	SNV Germline	Chr4:5783758	Conflicting classifications of pathogenicity	Condition: not provided Ellis-van Creveld syndrome Curry-Hall syndrome EVC-related disorder	Criteria Provided Conflicting Classifications	CA2836242	rs_141755737	3 SubmittersRCV000733930 RCV001088218 RCV003953128
NM_153717.3(EVC):c.2236C>T (p.Gln746Ter)	SNV Germline	Chr4:5798724	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Curry-Hall syndrome EVC-related disorder	Criteria Provided Conflicting Classifications	CA356145434	rs_1446547358	2 SubmittersRCV000637036 RCV004547793
NM_147127.5(EVC2):c.3859G>A (p.Val1287Ile)	SNV Germline	Chr4:5562916	Conflicting classifications of pathogenicity	Condition: not provided Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Conflicting Classifications		rs_771435248	2 SubmittersRCV000658467 RCV001080173
NM_147127.5(EVC2):c.2350A>G (p.Met784Val)	SNV Germline	Chr4:5622688	Conflicting classifications of pathogenicity	Condition: not provided Ellis-van Creveld syndrome Curry-Hall syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_202191109	3 SubmittersRCV000658466 RCV001082525 RCV002534289
NM_153717.3(EVC):c.928C>G (p.Leu310Val)	SNV Germline	Chr4:5745330	Conflicting classifications of pathogenicity	Condition: not provided Curry-Hall syndrome Ellis-van Creveld syndrome Ellis-van Creveld syndrome not specified	Criteria Provided Conflicting Classifications		rs_145300726	4 SubmittersRCV000657891 RCV000689940 RCV000665471 RCV003317322
NM_147127.5(EVC2):c.3058-2A>G	SNV Unknown	Chr4:5576456	Likely pathogenic	Ellis-van Creveld syndrome	Criteria Provided Single Submitter		rs_760066386	1 SubmittersRCV000672616
NM_147127.5(EVC2):c.2047-2A>G	SNV Germline	Chr4:5622993	Likely pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1553833239	3 SubmittersRCV000666009 RCV000763527
NM_147127.5(EVC2):c.1024A>T (p.Lys342Ter)	SNV Germline	Chr4:5663228	Pathogenic/Likely pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_767072839	4 SubmittersRCV000665096 RCV001213406 RCV001328649
NM_147127.5(EVC2):c.817-2A>G	SNV Unknown	Chr4:5681315	Likely pathogenic	Ellis-van Creveld syndrome	Criteria Provided Single Submitter		rs_1553849894	1 SubmittersRCV000671955
NM_153717.3(EVC):c.364C>T (p.Pro122Ser)	SNV Germline	Chr4:5729370	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_1407007311	3 SubmittersRCV000672061 RCV000998211
NM_153717.3(EVC):c.384+5G>C	SNV Germline	Chr4:5729395	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome EVC-related disorder Condition: not provided	Criteria Provided Conflicting Classifications		rs_1553865348	3 SubmittersRCV000666115 RCV003424269 RCV003432721
NM_153717.3(EVC):c.703-1G>A	SNV Unknown	Chr4:5741715	Likely pathogenic	Ellis-van Creveld syndrome	Criteria Provided Single Submitter		rs_1485152854	1 SubmittersRCV000668921
NM_153717.3(EVC):c.801+2T>G	SNV Unknown	Chr4:5741816	Likely pathogenic	Ellis-van Creveld syndrome	Criteria Provided Single Submitter		rs_1553871866	1 SubmittersRCV000674181
NM_153717.3(EVC):c.939+1G>C	SNV Unknown	Chr4:5745342	Likely pathogenic	Ellis-van Creveld syndrome	Criteria Provided Single Submitter		rs_1553873138	1 SubmittersRCV000669809
NM_147127.5(EVC2):c.2484G>A (p.Trp828Ter)	SNV Germline	Chr4:5622554	Pathogenic/Likely pathogenic	Ellis-van Creveld syndrome Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_770918273	2 SubmittersRCV000668731 RCV001042997
NM_147127.5(EVC2):c.2046+1G>T	SNV Germline	Chr4:5625748	Likely pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_762947212	2 SubmittersRCV000669462 RCV001048959
NM_147127.5(EVC2):c.1471-1G>C	SNV Unknown	Chr4:5632033	Likely pathogenic	Ellis-van Creveld syndrome	Criteria Provided Single Submitter		rs_1553837446	1 SubmittersRCV000674937
NM_147127.5(EVC2):c.3660-2A>G	SNV Unknown	Chr4:5563117	Likely pathogenic	Ellis-van Creveld syndrome	Criteria Provided Single Submitter		rs_1553811863	1 SubmittersRCV000669912
NM_147127.5(EVC2):c.3057+1G>A	SNV Unknown	Chr4:5584622	Likely pathogenic	Ellis-van Creveld syndrome	Criteria Provided Single Submitter		rs_1307502841	1 SubmittersRCV000668916
NM_147127.5(EVC2):c.451-2A>G	SNV Germline	Chr4:5691335	Likely pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1553851870	2 SubmittersRCV000670244 RCV001045528
NM_147127.5(EVC2):c.450+2T>C	SNV Germline	Chr4:5694333	Likely pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_781096099	2 SubmittersRCV000670299 RCV000806029
NM_147127.5(EVC2):c.2830-1G>A	SNV Unknown	Chr4:5584851	Likely pathogenic	Ellis-van Creveld syndrome	Criteria Provided Single Submitter		rs_1553818428	1 SubmittersRCV000672263
NM_147127.5(EVC2):c.450+1G>A	SNV Unknown	Chr4:5694334	Likely pathogenic	Ellis-van Creveld syndrome	Criteria Provided Single Submitter		rs_1447633595	1 SubmittersRCV000672674
NM_147127.5(EVC2):c.2707-1G>T	SNV Germline	Chr4:5615545	Likely pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_749251178	2 SubmittersRCV000673407 RCV002532148
NM_147127.5(EVC2):c.229-2A>G	SNV Germline	Chr4:5697649	Likely pathogenic	Ellis-van Creveld syndrome Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_769799880	2 SubmittersRCV000668452 RCV001213458
NM_147127.5(EVC2):c.1711-1G>A	SNV Germline	Chr4:5628735	Likely pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1553836169	2 SubmittersRCV000670927 RCV001855549
NM_153717.3(EVC):c.1777-2A>G	SNV Germline	Chr4:5793606	Pathogenic/Likely pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome Condition: not provided Ellis-van Creveld syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_909612975	4 SubmittersRCV001229451 RCV003432723 RCV000666935
NM_153717.3(EVC):c.1777-1G>A	SNV Germline	Chr4:5793607	Pathogenic/Likely pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1262933856	4 SubmittersRCV000670126 RCV001038169
NM_153717.3(EVC):c.1813C>T (p.Gln605Ter)	SNV Germline	Chr4:5793644	Pathogenic	Ellis-van Creveld syndrome	Criteria Provided Single Submitter		rs_1553889992	2 SubmittersRCV000671523
NM_153717.3(EVC):c.2098-1G>A	SNV Germline	Chr4:5798585	Likely pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_773019082	2 SubmittersRCV000670543 RCV002531254
NM_153717.3(EVC):c.2304+2T>C	SNV Germline	Chr4:5798794	Pathogenic/Likely pathogenic	Ellis-van Creveld syndrome Condition: not provided Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1553892090	3 SubmittersRCV000667205 RCV000734396 RCV002532061
NM_153717.3(EVC):c.2449+1G>A	SNV Germline	Chr4:5802095	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Conflicting Classifications		rs_1553893423	4 SubmittersRCV000666355 RCV001378311
NM_147127.5(EVC2):c.3598C>T (p.Arg1200Ter)	SNV Germline	Chr4:5565319	Pathogenic/Likely pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1305301849	2 SubmittersRCV000669199 RCV001216770
NM_147127.5(EVC2):c.769G>T (p.Glu257Ter)	SNV Germline	Chr4:5685417	Pathogenic/Likely pathogenic	Ellis-van Creveld syndrome Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1553850677	2 SubmittersRCV000668603 RCV001214748
NM_147127.5(EVC2):c.3134C>T (p.Ala1045Val)	SNV Germline	Chr4:5576378	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_750108569	2 SubmittersRCV000671919 RCV003159150
NM_147127.5(EVC2):c.2620C>T (p.Arg874Ter)	SNV Germline	Chr4:5618564	Pathogenic/Likely pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_760382778	3 SubmittersRCV000670205 RCV000702796 RCV001560317
NM_153717.3(EVC):c.2782+1G>T	SNV Germline	Chr4:5809612	Pathogenic/Likely pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1007534611	5 SubmittersRCV000672556 RCV001213995
NM_147127.5(EVC2):c.2046+1G>C	SNV Germline	Chr4:5625748	Likely pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_762947212	2 SubmittersRCV000670218 RCV003767983
NM_147127.5(EVC2):c.2029C>T (p.Arg677Ter)	SNV Germline	Chr4:5625766	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_73198165	3 SubmittersRCV000665358 RCV001382204 RCV001784231
NM_147127.5(EVC2):c.1887-1G>A	SNV Unknown	Chr4:5625909	Likely pathogenic	Ellis-van Creveld syndrome	Criteria Provided Single Submitter		rs_1490912913	1 SubmittersRCV000674180
NM_153717.3(EVC):c.2T>A (p.Met1Lys)	SNV Germline	Chr4:5711382	Pathogenic/Likely pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1553857801	2 SubmittersRCV000674216 RCV001378366
NM_147127.5(EVC2):c.942G>A (p.Trp314Ter)	SNV Germline	Chr4:5665578	Pathogenic/Likely pathogenic	Ellis-van Creveld syndrome Ellis-van Creveld syndrome Curry-Hall syndrome EVC2-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_763363403	4 SubmittersRCV000665893 RCV001207757 RCV003420174
NM_153717.3(EVC):c.134G>A (p.Trp45Ter)	SNV Germline	Chr4:5711514	Likely pathogenic	Ellis-van Creveld syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1553857995	2 SubmittersRCV000674011 RCV003144475
NM_147127.5(EVC2):c.816+2T>C	SNV Germline	Chr4:5685368	Pathogenic/Likely pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1294715119	2 SubmittersRCV000667487 RCV001861758
NM_147127.5(EVC2):c.745C>T (p.Gln249Ter)	SNV Germline	Chr4:5685441	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1236566474	2 SubmittersRCV000667298 RCV001236351
NM_147127.5(EVC2):c.229-1G>T	SNV Germline	Chr4:5697648	Likely pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1214848359	2 SubmittersRCV000671776 RCV001222326
NM_147127.5(EVC2):c.133C>T (p.Gln45Ter)	SNV Germline	Chr4:5708381	Pathogenic/Likely pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1477102573	2 SubmittersRCV000666395 RCV001390829
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter)	SNV Germline	Chr4:5783666	Pathogenic/Likely pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_764397417	5 SubmittersRCV000668673 RCV001047674
NM_153717.3(EVC):c.1868T>C (p.Leu623Pro)	SNV Germline	Chr4:5793699	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Curry-Hall syndrome Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Conflicting Classifications		rs_1373632260	4 SubmittersRCV000668661 RCV001333014 RCV001855505
NM_153717.3(EVC):c.2097+1G>T	SNV Germline	Chr4:5797233	Likely pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1553891368	2 SubmittersRCV000672868 RCV002531324
NM_153717.3(EVC):c.301-1G>A	SNV Germline	Chr4:5729306	Likely pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1363547577	2 SubmittersRCV000672542 RCV003767997
NM_153717.3(EVC):c.702+1G>A	SNV Unknown	Chr4:5733436	Likely pathogenic	Ellis-van Creveld syndrome	Criteria Provided Single Submitter		rs_1553867138	1 SubmittersRCV000669260
NM_153717.3(EVC):c.1060G>T (p.Glu354Ter)	SNV Germline	Chr4:5748268	Pathogenic/Likely pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_779915989	3 SubmittersRCV000667721 RCV001855487
NM_153717.3(EVC):c.1564-2A>G	SNV Unknown	Chr4:5783550	Likely pathogenic	Ellis-van Creveld syndrome	Criteria Provided Single Submitter		rs_1553886849	1 SubmittersRCV000673971
NM_153717.3(EVC):c.2561+1G>A	SNV Germline	Chr4:5804842	Pathogenic/Likely pathogenic	Ellis-van Creveld syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1553894457	2 SubmittersRCV000665984
NM_153717.3(EVC):c.2688+1G>C	SNV Germline	Chr4:5808328	Likely pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1553895776	2 SubmittersRCV000669817 RCV003767978
NM_153717.3(EVC):c.175-9G>A	SNV Germline	Chr4:5719239	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Condition: not provided Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Conflicting Classifications		rs_753317536	3 SubmittersRCV000754968 RCV002275101 RCV002531369
NM_147127.5(EVC2):c.341C>G (p.Ser114Ter)	SNV Germline	Chr4:5694444	Pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter		rs_748820015	1 SubmittersRCV000704338
NM_147127.5(EVC2):c.2304G>C (p.Val768=)	SNV Germline	Chr4:5622734	Conflicting classifications of pathogenicity	Condition: not provided Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Conflicting Classifications		rs_139936564	3 SubmittersRCV000728033 RCV001082511
NM_147127.5(EVC2):c.765C>T (p.Asn255=)	SNV Germline	Chr4:5685421	Conflicting classifications of pathogenicity	Condition: not provided Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Conflicting Classifications		rs_139129327	3 SubmittersRCV000728037 RCV001085162
NM_153717.3(EVC):c.1203C>T (p.Ser401=)	SNV Germline	Chr4:5752940	Conflicting classifications of pathogenicity	Condition: not provided Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Conflicting Classifications		rs_867155796	2 SubmittersRCV000728911 RCV002067091
NM_147127.5(EVC2):c.3468G>A (p.Leu1156=)	SNV Germline	Chr4:5568533	Conflicting classifications of pathogenicity	Condition: not provided Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Conflicting Classifications		rs_201460514	4 SubmittersRCV000756098 RCV001146052 RCV001083090
NM_153717.3(EVC):c.1963G>A (p.Ala655Thr)	SNV Germline	Chr4:5797098	Conflicting classifications of pathogenicity	Condition: not provided Curry-Hall syndrome Ellis-van Creveld syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_149344570	4 SubmittersRCV000757227 RCV001085326 RCV002533804
NM_153717.3(EVC):c.918C>A (p.Tyr306Ter)	SNV Germline	Chr4:5745320	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Curry-Hall syndrome EVC-related disorder	Criteria Provided Conflicting Classifications		rs_1560323242	2 SubmittersRCV001856175 RCV004549854
NM_153717.3(EVC):c.1489C>T (p.Gln497Ter)	SNV Germline	Chr4:5756288	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Curry-Hall syndrome EVC-related disorder	Criteria Provided Conflicting Classifications		rs_1460597472	2 SubmittersRCV003768448 RCV004549855
NM_147127.5(EVC2):c.3205C>T (p.Gln1069Ter)	SNV Germline	Chr4:5576307	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter		rs_144167138	1 SubmittersRCV000801826
NM_147127.5(EVC2):c.2368C>T (p.Gln790Ter)	SNV Germline	Chr4:5622670	Pathogenic/Likely pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1577170055	2 SubmittersRCV000815558
NM_147127.5(EVC2):c.2092C>T (p.Arg698Ter)	SNV Germline	Chr4:5622946	Pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_781623802	2 SubmittersRCV000812864 RCV003736910
NM_153717.3(EVC):c.2562-2A>G	SNV Germline	Chr4:5808199	Likely pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter		rs_1293098417	1 SubmittersRCV000800691
NM_147127.5(EVC2):c.2830-1G>T	SNV Germline	Chr4:5584851	Likely pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter		rs_1553818428	1 SubmittersRCV000818984
NM_147127.5(EVC2):c.707-2A>C	SNV Germline	Chr4:5685481	Pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter		rs_1302074641	1 SubmittersRCV000809734
NM_153717.3(EVC):c.2707A>G (p.Ile903Val)	SNV Germline	Chr4:5809536	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_143678893	4 SubmittersRCV001271213 RCV000878661 RCV001731968
NM_147127.5(EVC2):c.1005+3G>A	SNV Germline	Chr4:5665512	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Curry-Hall syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_141371552	2 SubmittersRCV000878610 RCV002267036
NM_147127.5(EVC2):c.3431G>A (p.Ser1144Asn)	SNV Germline	Chr4:5568570	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome EVC2-related disorder	Criteria Provided Conflicting Classifications		rs_200609501	3 SubmittersRCV000951170 RCV001148848 RCV003960625
NM_147127.5(EVC2):c.3411C>T (p.Ala1137=)	SNV Germline	Chr4:5568590	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications		rs_144532809	4 SubmittersRCV000951820 RCV001148849 RCV001000459 RCV003438621
NM_147127.5(EVC2):c.1452G>A (p.Leu484=)	SNV Germline	Chr4:5640532	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Curry-Hall syndrome not specified Ellis-van Creveld syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_137884710	5 SubmittersRCV000951680 RCV001001892 RCV001155560 RCV001565167
NM_147127.5(EVC2):c.903G>T (p.Gly301=)	SNV Germline	Chr4:5665617	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Conflicting Classifications		rs_745889694	2 SubmittersRCV000945687 RCV001151788
NM_153717.3(EVC):c.589G>T (p.Ala197Ser)	SNV Germline	Chr4:5731629	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_115507440	5 SubmittersRCV000950901 RCV001276227 RCV001811546 RCV004029812
NM_153717.3(EVC):c.717T>A (p.Ile239=)	SNV Germline	Chr4:5741730	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome EVC-related disorder	Criteria Provided Conflicting Classifications		rs_372312182	4 SubmittersRCV000945337 RCV001152194 RCV003970640
NM_153717.3(EVC):c.1612C>G (p.Leu538Val)	SNV Germline	Chr4:5783600	Conflicting classifications of pathogenicity	Curry-Hall syndrome Ellis-van Creveld syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_147772724	2 SubmittersRCV000945590 RCV002548230
NM_147127.5(EVC2):c.3543C>T (p.Asp1181=)	SNV Germline	Chr4:5568458	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Conflicting Classifications		rs_762696562	2 SubmittersRCV000908907 RCV001146051
NM_153717.3(EVC):c.2805G>A (p.Arg935=)	SNV Germline	Chr4:5810361	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Conflicting Classifications		rs_143631233	3 SubmittersRCV000908573 RCV001152500
NM_147127.5(EVC2):c.2310G>T (p.Trp770Cys)	SNV Germline	Chr4:5622728	Conflicting classifications of pathogenicity	Curry-Hall syndrome Ellis-van Creveld syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_572056540	3 SubmittersRCV000911221 RCV003145235
NM_147127.5(EVC2):c.1998G>A (p.Lys666=)	SNV Germline	Chr4:5625797	Conflicting classifications of pathogenicity	Curry-Hall syndrome Ellis-van Creveld syndrome Ellis-van Creveld syndrome	Criteria Provided Conflicting Classifications		rs_201835379	2 SubmittersRCV000926618 RCV001154619
NM_147127.5(EVC2):c.1083C>T (p.Asn361=)	SNV Germline	Chr4:5663169	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Conflicting Classifications		rs_142231129	2 SubmittersRCV000921763 RCV001157247
NM_153717.3(EVC):c.1242C>T (p.Ser414=)	SNV Germline	Chr4:5752979	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Conflicting Classifications		rs_769206763	3 SubmittersRCV000911342 RCV001152300
NM_147127.5(EVC2):c.3315G>A (p.Leu1105=)	SNV Germline	Chr4:5574730	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Conflicting Classifications		rs_1006097259	2 SubmittersRCV001148852 RCV001501911
NM_153717.3(EVC):c.758C>G (p.Ser253Ter)	SNV Germline	Chr4:5741771	Pathogenic	Ellis-van Creveld syndrome	Criteria Provided Single Submitter		rs_762795511	1 SubmittersRCV000991073
NM_153717.3(EVC):c.940-150T>C	SNV Germline	Chr4:5747998	Conflicting classifications of pathogenicity	not specified Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Conflicting Classifications		rs_576076928	4 SubmittersRCV001002557 RCV001427903 RCV001272633
NM_147127.5(EVC2):c.3140G>A (p.Trp1047Ter)	SNV Germline	Chr4:5576372	Pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter		rs_200560762	1 SubmittersRCV001049244
NM_147127.5(EVC2):c.2539G>T (p.Glu847Ter)	SNV Germline	Chr4:5618645	Pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter		rs_1715453232	1 SubmittersRCV001048066
NM_147127.5(EVC2):c.2398C>T (p.Gln800Ter)	SNV Germline	Chr4:5622640	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter		rs_1282621867	1 SubmittersRCV001060270
NM_147127.5(EVC2):c.1606G>T (p.Glu536Ter)	SNV Germline	Chr4:5631897	Pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter		rs_1284395468	1 SubmittersRCV001052472
NM_147127.5(EVC2):c.668C>A (p.Ser223Ter)	SNV Germline	Chr4:5689195	Pathogenic/Likely pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome EVC2-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_999964757	2 SubmittersRCV001055590 RCV003413868
NM_153717.3(EVC):c.1717A>G (p.Asn573Asp)	SNV Germline	Chr4:5783705	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_1373148885	3 SubmittersRCV001044889 RCV001832427 RCV002552569
NM_153717.3(EVC):c.2014C>T (p.Gln672Ter)	SNV Germline	Chr4:5797149	Pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter		rs_774949132	1 SubmittersRCV001041122
NM_153717.3(EVC):c.2446C>T (p.Gln816Ter)	SNV Germline	Chr4:5802091	Pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter		rs_374752679	1 SubmittersRCV001035927
NM_153717.3(EVC):c.2731C>T (p.Arg911Ter)	SNV Germline	Chr4:5809560	Pathogenic/Likely pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome Condition: not provided Ellis-van Creveld syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_767400887	6 SubmittersRCV001054953 RCV001169863 RCV001729784
NM_147127.5(EVC2):c.3361-2A>G	SNV Germline	Chr4:5568642	Likely pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter		rs_1036371676	1 SubmittersRCV001052250
NM_153717.3(EVC):c.1886+1G>C	SNV Germline	Chr4:5793718	Likely pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter		rs_753679094	1 SubmittersRCV001068092
NM_153717.3(EVC):c.617+1G>A	SNV Germline	Chr4:5731658	Likely pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter		rs_1726841476	1 SubmittersRCV001048504
NM_147127.5(EVC2):c.3289C>G (p.Gln1097Glu)	SNV Germline	Chr4:5574756	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_150215092	2 SubmittersRCV001148854 RCV003246729
NM_147127.5(EVC2):c.2707-9C>G	SNV Germline	Chr4:5615553	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Conflicting Classifications		rs_772234395	2 SubmittersRCV001146169 RCV001490629
NM_147127.5(EVC2):c.1122G>A (p.Gly374=)	SNV Germline	Chr4:5663130	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Conflicting Classifications		rs_780172151	2 SubmittersRCV001157246 RCV001493148
NM_147127.5(EVC2):c.597C>T (p.Asn199=)	SNV Germline	Chr4:5689266	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Conflicting Classifications		rs_1003816966	2 SubmittersRCV001155659 RCV003769746
NM_153717.3(EVC):c.1074C>T (p.Cys358=)	SNV Germline	Chr4:5748282	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Conflicting Classifications		rs_921573510	2 SubmittersRCV001157778 RCV001400163
NM_153717.3(EVC):c.*3T>G	SNV Germline	Chr4:5811040	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome EVC-related disorder	Criteria Provided Conflicting Classifications		rs_368249789	2 SubmittersRCV001152501 RCV003906271
NM_147127.5(EVC2):c.706+13C>T	SNV Germline	Chr4:5689144	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Conflicting Classifications		rs_371526145	2 SubmittersRCV001153034 RCV002070863
NM_147127.5(EVC2):c.284-10T>G	SNV Germline	Chr4:5694511	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Conflicting Classifications		rs_1192584069	2 SubmittersRCV001157337 RCV002070937
NM_153717.3(EVC):c.2782+15C>G	SNV Germline	Chr4:5809626	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Conflicting Classifications		rs_373862588	2 SubmittersRCV001152499 RCV003769730
NM_153717.3(EVC):c.2450-1G>A	SNV Germline	Chr4:5804729	Likely pathogenic	Ellis-van Creveld syndrome	No Assertion Criteria Provided		rs_1715585498	1 SubmittersRCV001175204
NM_153717.3(EVC):c.612C>A (p.Cys204Ter)	SNV Germline	Chr4:5731652	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter		rs_553634958	1 SubmittersRCV001222961
NM_153717.3(EVC):c.2146C>T (p.Gln716Ter)	SNV Germline	Chr4:5798634	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter		rs_1714412021	1 SubmittersRCV001223333
NM_153717.3(EVC):c.829C>T (p.Gln277Ter)	SNV Germline	Chr4:5745231	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter		rs_1251648799	1 SubmittersRCV001204407
NM_153717.3(EVC):c.1864C>T (p.Arg622Ter)	SNV Germline	Chr4:5793695	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter		rs_1329006994	2 SubmittersRCV001201711 RCV001828620
NM_147127.5(EVC2):c.519+2T>C	SNV Germline	Chr4:5691263	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter		rs_1721102486	1 SubmittersRCV001206918
NM_153717.3(EVC):c.1886+2T>G	SNV Germline	Chr4:5793719	Likely pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter		rs_1713228964	1 SubmittersRCV001211362
NM_153717.3(EVC):c.703-1G>C	SNV Germline	Chr4:5741715	Likely pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter		rs_1485152854	1 SubmittersRCV001214558
NM_153717.3(EVC):c.939+1G>A	SNV Germline	Chr4:5745342	Likely pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter		rs_1553873138	2 SubmittersRCV001223287 RCV001833932
NM_153717.3(EVC):c.2098-2A>G	SNV Germline	Chr4:5798584	Likely pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter		rs_1714398710	1 SubmittersRCV001223607
NM_147127.5(EVC2):c.644G>A (p.Trp215Ter)	SNV Germline	Chr4:5689219	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter		rs_1720937470	1 SubmittersRCV001235949
NM_153717.3(EVC):c.973C>T (p.Gln325Ter)	SNV Germline	Chr4:5748181	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter		rs_1729654379	1 SubmittersRCV001243415
NM_147127.5(EVC2):c.2833C>T (p.Arg945Ter)	SNV Germline	Chr4:5584847	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1301855639	2 SubmittersRCV001267667 RCV001386726
NM_147127.5(EVC2):c.2483G>A (p.Trp828Ter)	SNV Germline	Chr4:5622555	Pathogenic	Condition: not provided Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1715768907	2 SubmittersRCV001812320 RCV001871668
NM_147127.5(EVC2):c.3751G>T (p.Glu1251Ter)	SNV Germline	Chr4:5563024	Pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter		rs_769520928	1 SubmittersRCV001304603
NM_153717.3(EVC):c.107C>G (p.Ala36Gly)	SNV Germline	Chr4:5711487	Conflicting classifications of pathogenicity	Curry-Hall syndrome Ellis-van Creveld syndrome Ellis-van Creveld syndrome EVC-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_1219807707	4 SubmittersRCV001300483 RCV001830172 RCV003973195 RCV004036164
NM_147127.5(EVC2):c.2706+1G>A	SNV Germline	Chr4:5618477	Likely pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter		rs_2108833043	1 SubmittersRCV001377221
NM_147127.5(EVC2):c.1710+2T>C	SNV Germline	Chr4:5631791	Likely pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter		rs_2108851273	1 SubmittersRCV001379523
NM_147127.5(EVC2):c.816+2T>A	SNV Germline	Chr4:5685368	Likely pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter		rs_1294715119	1 SubmittersRCV001379931
NM_153717.3(EVC):c.175-2A>G	SNV Germline	Chr4:5719246	Pathogenic/Likely pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_767186464	2 SubmittersRCV001377982 RCV003325231
NM_147127.5(EVC2):c.2897C>A (p.Ser966Ter)	SNV Germline	Chr4:5584783	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter		rs_145425340	1 SubmittersRCV001383513
NM_147127.5(EVC2):c.1967T>A (p.Leu656Ter)	SNV Germline	Chr4:5625828	Pathogenic/Likely pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1367694162	2 SubmittersRCV001386071
NM_147127.5(EVC2):c.1410C>G (p.Tyr470Ter)	SNV Germline	Chr4:5640574	Pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter		rs_2108863739	1 SubmittersRCV001389734
NM_147127.5(EVC2):c.253A>T (p.Lys85Ter)	SNV Germline	Chr4:5697623	Pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter		rs_2151739558	1 SubmittersRCV001390304
NM_147127.5(EVC2):c.104C>G (p.Ser35Ter)	SNV Germline	Chr4:5708410	Pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter		rs_2151750076	1 SubmittersRCV001389765
NM_153717.3(EVC):c.539C>A (p.Ser180Ter)	SNV Germline	Chr4:5731579	Pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter		rs_762136199	1 SubmittersRCV001382945
NM_153717.3(EVC):c.1021C>T (p.Gln341Ter)	SNV Germline	Chr4:5748229	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter		rs_1729663828	1 SubmittersRCV001385786
NM_153717.3(EVC):c.1228G>T (p.Glu410Ter)	SNV Germline	Chr4:5752965	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter		rs_2152076522	1 SubmittersRCV001385913
NM_153717.3(EVC):c.2545C>T (p.Gln849Ter)	SNV Germline	Chr4:5804825	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter		rs_561852174	1 SubmittersRCV001387037
NM_153717.3(EVC):c.2098-1G>C	SNV Germline	Chr4:5798585	Likely pathogenic	Ellis-van Creveld syndrome	Criteria Provided Single Submitter		rs_773019082	1 SubmittersRCV001580698
NM_153717.3(EVC):c.2519C>T (p.Thr840Met)	SNV Germline	Chr4:5804799	Conflicting classifications of pathogenicity	Condition: not provided Curry-Hall syndrome Ellis-van Creveld syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_143464806	3 SubmittersRCV001752388 RCV002544096 RCV004040230
NM_153717.3(EVC):c.1327C>T (p.Arg443Ter)	SNV Germline	Chr4:5753796	Pathogenic	Ellis-van Creveld syndrome Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1730760070	2 SubmittersRCV001806404 RCV002541450
NM_153717.3(EVC):c.77C>T (p.Ala26Val)	SNV Germline	Chr4:5711457	Conflicting classifications of pathogenicity	Condition: not provided Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Conflicting Classifications		rs_1035520087	2 SubmittersRCV001843623 RCV002543272
NM_147127.5(EVC2):c.1710+1G>A	SNV Germline	Chr4:5631792	Likely pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter		rs_2108851279	1 SubmittersRCV001959620
NM_153717.3(EVC):c.940-150T>G	SNV Germline	Chr4:5747998	Likely pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter		rs_576076928	1 SubmittersRCV002031272
NM_153717.3(EVC):c.721A>T (p.Lys241Ter)	SNV Germline	Chr4:5741734	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter		rs_2152000498	1 SubmittersRCV001993000
NM_153717.3(EVC):c.788C>G (p.Ser263Ter)	SNV Germline	Chr4:5741801	Pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter		rs_2152001027	1 SubmittersRCV001899273
NM_153717.3(EVC):c.2488G>T (p.Glu830Ter)	SNV Germline	Chr4:5804768	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter		rs_2152375194	1 SubmittersRCV001892851
NM_147127.5(EVC2):c.1470+1G>C	SNV Germline	Chr4:5640513	Likely pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter		rs_1577194652	1 SubmittersRCV001990716
NM_147127.5(EVC2):c.3655C>T (p.Gln1219Ter)	SNV Germline	Chr4:5565262	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter		rs_369739594	1 SubmittersRCV001889169
NM_147127.5(EVC2):c.2046+1G>A	SNV Germline	Chr4:5625748	Likely pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter		rs_762947212	1 SubmittersRCV001991637
NM_153717.3(EVC):c.1168C>T (p.Gln390Ter)	SNV Germline	Chr4:5752905	Pathogenic/Likely pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome EVC-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_1560340266	2 SubmittersRCV001941809 RCV003395319
NM_153717.3(EVC):c.2132A>G (p.Glu711Gly)	SNV Germline	Chr4:5798620	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Curry-Hall syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_373726507	3 SubmittersRCV001964191 RCV002571287
NM_153717.3(EVC):c.1324C>T (p.Gln442Ter)	SNV Germline	Chr4:5753793	Pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter		rs_753152908	1 SubmittersRCV001917509
NM_147127.5(EVC2):c.816+1G>T	SNV Germline	Chr4:5685369	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter		rs_1355905411	1 SubmittersRCV002019716
NM_147127.5(EVC2):c.2729C>G (p.Ser910Ter)	SNV Germline	Chr4:5615522	Pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter		rs_2108829049	1 SubmittersRCV001884555
NM_147127.5(EVC2):c.802C>T (p.Gln268Ter)	SNV Germline	Chr4:5685384	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter		rs_2151728030	1 SubmittersRCV001959706
NM_147127.5(EVC2):c.870+1G>A	SNV Germline	Chr4:5681259	Likely pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter		rs_2151724043	1 SubmittersRCV002019155
NM_153717.3(EVC):c.2078G>A (p.Trp693Ter)	SNV Germline	Chr4:5797213	Pathogenic/Likely pathogenic	Ellis-van Creveld syndrome Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1714132239	2 SubmittersRCV002307806 RCV002037849
NM_147127.5(EVC2):c.1896C>A (p.Tyr632Ter)	SNV Germline	Chr4:5625899	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter		rs_779707723	1 SubmittersRCV002002395
NM_147127.5(EVC2):c.1330C>T (p.Gln444Ter)	SNV Germline	Chr4:5640654	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter		rs_372215987	1 SubmittersRCV002037810
NM_153717.3(EVC):c.25A>T (p.Lys9Ter)	SNV Germline	Chr4:5711405	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter		rs_1425513399	1 SubmittersRCV002007593
NM_147127.5(EVC2):c.2188C>T (p.Gln730Ter)	SNV Germline	Chr4:5622850	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter		rs_2108839112	1 SubmittersRCV001960740
NM_147127.5(EVC2):c.3273-2A>C	SNV Germline	Chr4:5574774	Likely pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter		rs_2108777040	1 SubmittersRCV002009459
NM_153717.3(EVC):c.1687G>T (p.Glu563Ter)	SNV Germline	Chr4:5783675	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter		rs_539010490	1 SubmittersRCV001941596
NM_147127.5(EVC2):c.820A>T (p.Arg274Ter)	SNV Germline	Chr4:5681310	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter		rs_2151724149	1 SubmittersRCV001950069
NM_147127.5(EVC2):c.1303C>T (p.Gln435Ter)	SNV Germline	Chr4:5640681	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter		rs_1369020144	1 SubmittersRCV001946943
NM_147127.5(EVC2):c.706+2T>C	SNV Germline	Chr4:5689155	Likely pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1360260333	2 SubmittersRCV002030119
NM_147127.5(EVC2):c.986A>G (p.Asn329Ser)	SNV Germline	Chr4:5665534	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Curry-Hall syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_368314615	2 SubmittersRCV001912974 RCV004041789
NM_147127.5(EVC2):c.832A>T (p.Lys278Ter)	SNV Germline	Chr4:5681298	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter		rs_942590430	1 SubmittersRCV001936430
NM_147127.5(EVC2):c.117G>A (p.Trp39Ter)	SNV Germline	Chr4:5708397	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter		rs_2151750059	1 SubmittersRCV001946640
NM_153717.3(EVC):c.1501C>T (p.Gln501Ter)	SNV Germline	Chr4:5756300	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter		rs_373088008	1 SubmittersRCV001956415
NM_147127.5(EVC2):c.116G>A (p.Trp39Ter)	SNV Germline	Chr4:5708398	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter		rs_1345487794	1 SubmittersRCV001951340
NM_153717.3(EVC):c.2698C>T (p.Gln900Ter)	SNV Germline	Chr4:5809527	Pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter		rs_1039706882	1 SubmittersRCV001883666
NM_147127.5(EVC2):c.2829+1G>A	SNV Germline	Chr4:5615421	Likely pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter		rs_752255602	1 SubmittersRCV002010308
NM_153717.3(EVC):c.286A>T (p.Lys96Ter)	SNV Germline	Chr4:5719359	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter		rs_2151842550	1 SubmittersRCV001985091
NM_147127.5(EVC2):c.3023C>A (p.Ser1008Ter)	SNV Germline	Chr4:5584657	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter		rs_60809236	1 SubmittersRCV001949568
NM_153717.3(EVC):c.174+1G>T	SNV Germline	Chr4:5711555	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter		rs_2151768710	1 SubmittersRCV001956567
NM_153717.3(EVC):c.1886+5G>A	SNV Germline	Chr4:5793722	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_794726665	2 SubmittersRCV001958682 RCV003225211
NM_147127.5(EVC2):c.1529T>A (p.Leu510Ter)	SNV Germline	Chr4:5631974	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter		rs_2108851695	1 SubmittersRCV001951546
NM_147127.5(EVC2):c.655G>T (p.Gly219Ter)	SNV Germline	Chr4:5689208	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter		rs_745404766	1 SubmittersRCV001895069
NM_147127.5(EVC2):c.380T>A (p.Leu127Ter)	SNV Germline	Chr4:5694405	Likely pathogenic	Ellis-van Creveld syndrome	Criteria Provided Single Submitter		rs_2151736638	1 SubmittersRCV002240134
NM_147127.5(EVC2):c.3043G>T (p.Glu1015Ter)	SNV Unknown	Chr4:5584637	Likely pathogenic	Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002309656
NM_147127.5(EVC2):c.316A>T (p.Lys106Ter)	SNV Unknown	Chr4:5694469	Likely pathogenic	Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002309770
NM_147127.5(EVC2):c.2737A>T (p.Lys913Ter)	SNV Unknown	Chr4:5615514	Likely pathogenic	Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002309819
NM_147127.5(EVC2):c.2878G>T (p.Glu960Ter)	SNV Unknown	Chr4:5584802	Likely pathogenic	Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002309836
NM_147127.5(EVC2):c.2764A>T (p.Lys922Ter)	SNV Unknown	Chr4:5615487	Likely pathogenic	Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002309841
NM_147127.5(EVC2):c.1313T>A (p.Leu438Ter)	SNV Unknown	Chr4:5640671	Likely pathogenic	Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002309870
NM_153717.3(EVC):c.2191G>T (p.Glu731Ter)	SNV Germline	Chr4:5798679	Pathogenic/Likely pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002309081 RCV003099152
NM_153717.3(EVC):c.857C>A (p.Ser286Ter)	SNV Unknown	Chr4:5745259	Likely pathogenic	Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002309231
NM_153717.3(EVC):c.2026G>T (p.Glu676Ter)	SNV Unknown	Chr4:5797161	Likely pathogenic	Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002306859
NM_147127.5(EVC2):c.3535C>T (p.Gln1179Ter)	SNV Unknown	Chr4:5568466	Likely pathogenic	Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002306910
NM_147127.5(EVC2):c.1186G>T (p.Glu396Ter)	SNV Unknown	Chr4:5640798	Likely pathogenic	Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002306988
NM_147127.5(EVC2):c.1896C>G (p.Tyr632Ter)	SNV Unknown	Chr4:5625899	Likely pathogenic	Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002307013
NM_153717.3(EVC):c.2041G>T (p.Glu681Ter)	SNV Unknown	Chr4:5797176	Likely pathogenic	Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002307035
NM_153717.3(EVC):c.636T>A (p.Cys212Ter)	SNV Unknown	Chr4:5733369	Likely pathogenic	Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002307157
NM_147127.5(EVC2):c.2005C>T (p.Gln669Ter)	SNV Unknown	Chr4:5625790	Likely pathogenic	Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002307278
NM_147127.5(EVC2):c.2851G>T (p.Glu951Ter)	SNV Unknown	Chr4:5584829	Likely pathogenic	Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002310089
NM_153717.3(EVC):c.1290G>A (p.Trp430Ter)	SNV Unknown	Chr4:5753027	Likely pathogenic	Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002310181
NM_147127.5(EVC2):c.1012C>T (p.Gln338Ter)	SNV Unknown	Chr4:5663240	Likely pathogenic	Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002310500
NM_153717.3(EVC):c.91G>A (p.Ala31Thr)	SNV Germline	Chr4:5711471	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Curry-Hall syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV003041207 RCV003062640
NM_147127.5(EVC2):c.3102G>T (p.Gln1034His)	SNV Germline	Chr4:5576410	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Curry-Hall syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV003087481 RCV004071911
NM_153717.3(EVC):c.2029C>T (p.Gln677Ter)	SNV Germline	Chr4:5797164	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003090305
NM_153717.3(EVC):c.2079G>A (p.Trp693Ter)	SNV Germline	Chr4:5797214	Pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002598826
NM_153717.3(EVC):c.154C>T (p.Arg52Cys)	SNV Germline	Chr4:5711534	Conflicting classifications of pathogenicity	Inborn genetic diseases Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV002637792 RCV002637793
NM_147127.5(EVC2):c.2365G>T (p.Glu789Ter)	SNV Germline	Chr4:5622673	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002664334
NM_153717.3(EVC):c.1098+1G>A	SNV Germline	Chr4:5748307	Likely pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002651800
NM_153717.3(EVC):c.2783-3C>A	SNV Germline	Chr4:5810336	Conflicting classifications of pathogenicity	Curry-Hall syndrome Ellis-van Creveld syndrome EVC-related disorder	Criteria Provided Conflicting Classifications			2 SubmittersRCV002651801 RCV003404136
NM_147127.5(EVC2):c.2680C>T (p.Gln894Ter)	SNV Germline	Chr4:5618504	Pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002593970
NM_147127.5(EVC2):c.2068C>T (p.Gln690Ter)	SNV Germline	Chr4:5622970	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002631782
NM_147127.5(EVC2):c.3251T>A (p.Leu1084Ter)	SNV Germline	Chr4:5576261	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002666750
NM_153717.3(EVC):c.2686C>T (p.Gln896Ter)	SNV Germline	Chr4:5808325	Pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002775656
NM_153717.3(EVC):c.1099-1G>A	SNV Germline	Chr4:5752835	Likely pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002838926
NM_153717.3(EVC):c.1099-2A>C	SNV Germline	Chr4:5752834	Likely pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002830096
NM_147127.5(EVC2):c.450+2T>G	SNV Germline	Chr4:5694333	Likely pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002885119
NM_153717.3(EVC):c.385-1G>A	SNV Germline	Chr4:5731424	Likely pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002875515
NM_153717.3(EVC):c.1887-2A>T	SNV Germline	Chr4:5797020	Likely pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002875563
NM_153717.3(EVC):c.802-2A>G	SNV Germline	Chr4:5745202	Likely pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002876450
NM_153717.3(EVC):c.1776+2T>C	SNV Germline	Chr4:5783766	Likely pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002876169
NM_147127.5(EVC2):c.2056C>T (p.Gln686Ter)	SNV Germline	Chr4:5622982	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002871509
NM_153717.3(EVC):c.2258G>A (p.Arg753Gln)	SNV Germline	Chr4:5798746	Conflicting classifications of pathogenicity	Inborn genetic diseases Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV002885949 RCV002885950
NM_147127.5(EVC2):c.519+2T>G	SNV Germline	Chr4:5691263	Pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002908238
NM_153717.3(EVC):c.230C>T (p.Ser77Leu)	SNV Germline	Chr4:5719303	Conflicting classifications of pathogenicity	Ellis-van Creveld syndrome Curry-Hall syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV002913247 RCV004066116
NM_153717.3(EVC):c.2T>C (p.Met1Thr)	SNV Germline	Chr4:5711382	Likely pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002954055
NM_147127.5(EVC2):c.2843T>A (p.Leu948Ter)	SNV Germline	Chr4:5584837	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002934077
NM_147127.5(EVC2):c.1341C>G (p.Tyr447Ter)	SNV Germline	Chr4:5640643	Pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002971639
NM_147127.5(EVC2):c.2410C>T (p.Gln804Ter)	SNV Germline	Chr4:5622628	Pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002976184
NM_147127.5(EVC2):c.1791T>G (p.Tyr597Ter)	SNV Germline	Chr4:5628654	Pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002972228
NM_153717.3(EVC):c.157C>T (p.Gln53Ter)	SNV Germline	Chr4:5711537	Pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003010421
NM_153717.3(EVC):c.1657G>T (p.Glu553Ter)	SNV Germline	Chr4:5783645	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003018999
NM_153717.3(EVC):c.2379T>G (p.Tyr793Ter)	SNV Germline	Chr4:5802024	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003006205
NM_153717.3(EVC):c.617+2T>A	SNV Germline	Chr4:5731659	Likely pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003038851
NM_147127.5(EVC2):c.2893C>T (p.Gln965Ter)	SNV Germline	Chr4:5584787	Pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003026355
NM_147127.5(EVC2):c.519+1G>A	SNV Germline	Chr4:5691264	Pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003029096
NM_153717.3(EVC):c.1084G>T (p.Glu362Ter)	SNV Germline	Chr4:5748292	Pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003029107
NM_147127.5(EVC2):c.703C>T (p.Gln235Ter)	SNV Germline	Chr4:5689160	Pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003043403
NM_153717.3(EVC):c.1A>G (p.Met1Val)	SNV Germline	Chr4:5711381	Likely pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003055156
NM_153717.3(EVC):c.1572C>G (p.Tyr524Ter)	SNV Germline	Chr4:5783560	Pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003052019
NM_147127.5(EVC2):c.3558-2A>G	SNV Germline	Chr4:5565361	Likely pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003059631
NM_147127.5(EVC2):c.2989G>T (p.Glu997Ter)	SNV Germline	Chr4:5584691	Pathogenic	Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003236248
NM_153717.3(EVC):c.801+1G>T	SNV Germline	Chr4:5741815	Likely pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV003322662 RCV003777326 RCV004572927
NM_147127.5(EVC2):c.1987G>T (p.Glu663Ter)	SNV Germline	Chr4:5625808	Pathogenic	Ellis-van Creveld syndrome	No Assertion Criteria Provided			1 SubmittersRCV003330360
NM_153717.3(EVC):c.618-2A>G	SNV Germline	Chr4:5733349	Pathogenic	EVC-related disorder Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003419047 RCV003778311
NM_153717.3(EVC):c.653T>G (p.Leu218Ter)	SNV Germline	Chr4:5733386	Pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003784600
NM_147127.5(EVC2):c.2698G>T (p.Glu900Ter)	SNV Germline	Chr4:5618486	Pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003781028
NM_147127.5(EVC2):c.3272+1G>T	SNV Germline	Chr4:5576239	Likely pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003790103
NM_153717.3(EVC):c.2662G>T (p.Glu888Ter)	SNV Germline	Chr4:5808301	Pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003795604
NM_147127.5(EVC2):c.2881G>T (p.Gly961Ter)	SNV Germline	Chr4:5584799	Pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003789311
NM_153717.3(EVC):c.1A>C (p.Met1Leu)	SNV Germline	Chr4:5711381	Pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003798259
NM_147127.5(EVC2):c.3058-1G>C	SNV Germline	Chr4:5576455	Likely pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003792070
NM_147127.5(EVC2):c.2501+1G>T	SNV Germline	Chr4:5622536	Likely pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003794670
NM_147127.5(EVC2):c.1470+2T>C	SNV Germline	Chr4:5640512	Likely pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003807937
NM_147127.5(EVC2):c.2380G>T (p.Glu794Ter)	SNV Germline	Chr4:5622658	Pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003808108
NM_153717.3(EVC):c.1777-2A>C	SNV Germline	Chr4:5793606	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003806451
NM_147127.5(EVC2):c.3734C>A (p.Ser1245Ter)	SNV Germline	Chr4:5563041	Pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003806960
NM_147127.5(EVC2):c.2533G>T (p.Glu845Ter)	SNV Germline	Chr4:5618651	Pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003791042
NM_147127.5(EVC2):c.1519C>T (p.Gln507Ter)	SNV Germline	Chr4:5631984	Pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003805456
NM_153717.3(EVC):c.801+2T>C	SNV Germline	Chr4:5741816	Likely pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003805954
NM_147127.5(EVC2):c.2632C>T (p.Gln878Ter)	SNV Germline	Chr4:5618552	Pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003805997
NM_147127.5(EVC2):c.557G>A (p.Trp186Ter)	SNV Germline	Chr4:5689306	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003803905
NM_153717.3(EVC):c.2382C>A (p.Tyr794Ter)	SNV Germline	Chr4:5802027	Pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003798870
NM_153717.3(EVC):c.2688+2T>G	SNV Germline	Chr4:5808329	Likely pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003799137
NM_147127.5(EVC2):c.817-1G>T	SNV Germline	Chr4:5681314	Likely pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003802900
NM_147127.5(EVC2):c.2829+2T>C	SNV Germline	Chr4:5615420	Likely pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003803222
NM_147127.5(EVC2):c.2707-1G>A	SNV Germline	Chr4:5615545	Likely pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003803359
NM_153717.3(EVC):c.248C>G (p.Ser83Ter)	SNV Germline	Chr4:5719321	Pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003808564
NM_153717.3(EVC):c.2167C>T (p.Gln723Ter)	SNV Germline	Chr4:5798655	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003809074
NM_147127.5(EVC2):c.1005+1G>A	SNV Germline	Chr4:5665514	Likely pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003807153
NM_147127.5(EVC2):c.1132C>T (p.Gln378Ter)	SNV Germline	Chr4:5663120	Pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003809356
NM_153717.3(EVC):c.300+1G>T	SNV Germline	Chr4:5719374	Likely pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003804575
NM_147127.5(EVC2):c.520-2A>T	SNV Germline	Chr4:5689345	Likely pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003804614
NM_153717.3(EVC):c.958C>T (p.Gln320Ter)	SNV Germline	Chr4:5748166	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003813527
NM_153717.3(EVC):c.2449+2T>C	SNV Germline	Chr4:5802096	Likely pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003815726
NM_147127.5(EVC2):c.2041C>T (p.Gln681Ter)	SNV Germline	Chr4:5625754	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003810072
NM_153717.3(EVC):c.2097+1G>A	SNV Germline	Chr4:5797233	Likely pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003813319
NM_147127.5(EVC2):c.1146-2A>T	SNV Germline	Chr4:5640840	Likely pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003813321
NM_147127.5(EVC2):c.790C>T (p.Gln264Ter)	SNV Germline	Chr4:5685396	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003812840
NM_153717.3(EVC):c.613G>T (p.Glu205Ter)	SNV Germline	Chr4:5731653	Pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003812849
NM_147127.5(EVC2):c.450+1G>C	SNV Germline	Chr4:5694334	Likely pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003812861
NM_147127.5(EVC2):c.3058-1G>T	SNV Germline	Chr4:5576455	Likely pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003812978
NM_147127.5(EVC2):c.2829+2T>G	SNV Germline	Chr4:5615420	Likely pathogenic	Ellis-van Creveld syndrome Curry-Hall syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003807251
NM_153717.3(EVC):c.1462G>T (p.Glu488Ter)	SNV Germline	Chr4:5753931	Pathogenic	Curry-Hall syndrome Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003818126
NM_153717.3(EVC):c.1363C>T (p.Gln455Ter)	SNV Germline	Chr4:5753832	Likely pathogenic	Ellis-van Creveld syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003990160

NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter)

SNV
Germline

Chr4:5640789

Pathogenic

Ellis-van Creveld syndrome
Short-rib thoracic dysplasia 6 with or without polydactyly
Condition: not provided
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA116164

rs_137852924

10 SubmittersRCV000003550 RCV000516144 RCV000578498 RCV000763528

NM_147127.5(EVC2):c.1855C>T (p.Gln619Ter)

SNV
Germline

Chr4:5628590

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA116167

rs_137852925

3 SubmittersRCV000003551 RCV001228211

NM_147127.5(EVC2):c.848T>G (p.Ile283Arg)

SNV
Germline

Chr4:5681282

Pathogenic

Ellis-van Creveld syndrome

No Assertion Criteria Provided

CA116170

rs_137852926

1 SubmittersRCV000003552

NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter)

SNV
Germline

Chr4:5576247

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA116172

rs_137852927

6 SubmittersRCV000003553 RCV000799858 RCV001265673

NM_153717.3(EVC):c.1886+5G>T

SNV
Germline

Chr4:5793722

Pathogenic/Likely pathogenic

Ellis-van Creveld syndrome
Condition: not provided
Short-rib thoracic dysplasia 6 with or without polydactyly
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA212828

rs_794726665

7 SubmittersRCV000005666 RCV000438781 RCV000516013 RCV001851677

NM_153717.3(EVC):c.2635C>T (p.Gln879Ter)

SNV
Germline

Chr4:5808274

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

CA117414

rs_121908424

3 SubmittersRCV000005667 RCV001045109

NM_153717.3(EVC):c.1018C>T (p.Arg340Ter)

SNV
Germline

Chr4:5748226

Pathogenic

Ellis-van Creveld syndrome
Condition: not provided
Short-rib thoracic dysplasia 6 with or without polydactyly
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA117416

rs_121908425

11 SubmittersRCV000005668 RCV000255270 RCV000516113 RCV000807465

NM_153717.3(EVC):c.919T>C (p.Ser307Pro)

SNV
Germline

Chr4:5745321

Pathogenic/Likely pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA117420

rs_121908426

6 SubmittersRCV000005672 RCV001383029

NM_147127.5(EVC2):c.707-2A>G

SNV
Germline

Chr4:5685481

Pathogenic

Ellis-van Creveld syndrome

No Assertion Criteria Provided

rs_1302074641

1 SubmittersRCV000023641

NM_147127.5(EVC2):c.2653C>T (p.Arg885Ter)

SNV
Germline

Chr4:5618531

Pathogenic

Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA213036

rs_146538906

3 SubmittersRCV000023642 RCV001852025

NM_147127.5(EVC2):c.3797T>G (p.Leu1266Ter)

SNV
Germline

Chr4:5562978

Pathogenic

Curry-Hall syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

rs_1577093161

2 SubmittersRCV000088667 RCV003764801

NM_147127.5(EVC2):c.18C>T (p.Ser6=)

SNV
Germline

Chr4:5708496

Conflicting classifications of pathogenicity

Condition: not provided
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Conflicting Classifications

CA239034

rs_556910528

5 SubmittersRCV000173575 RCV001080231

NM_153717.3(EVC):c.8G>C (p.Arg3Pro)

SNV
Germline

Chr4:5711388

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Curry-Hall syndrome
Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Inborn genetic diseases
EVC-related disorder

Criteria Provided
Conflicting Classifications

CA239040

rs_756852655

10 SubmittersRCV000173582 RCV000724435 RCV001085964 RCV001153146 RCV002516592 RCV003975261

NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg)

SNV
Germline

Chr4:5640620

Conflicting classifications of pathogenicity

not specified
Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Condition: not provided
EVC2-related disorder

Criteria Provided
Conflicting Classifications

CA200770

rs_141287105

10 SubmittersRCV000173922 RCV000680149 RCV000755525 RCV001572957 RCV003965251

NM_153717.3(EVC):c.1826G>A (p.Arg609Gln)

SNV
Germline

Chr4:5793657

Conflicting classifications of pathogenicity

not specified
Ellis-van Creveld syndrome
Condition: not provided
Curry-Hall syndrome
Ellis-van Creveld syndrome
Inborn genetic diseases
EVC-related disorder

Criteria Provided
Conflicting Classifications

CA240165

rs_41269557

11 SubmittersRCV000174617 RCV000268280 RCV000724535 RCV001080715 RCV002516635 RCV003907562

NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter)

SNV
Germline

Chr4:5622775

Pathogenic/Likely pathogenic

Ellis-van Creveld syndrome
Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome
Hereditary insensitivity to pain with anhidrosis
RASopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA201188

rs_751356206

6 SubmittersRCV000174810 RCV000724018 RCV000763526 RCV004526625 RCV004539620

NM_147127.5(EVC2):c.2244C>T (p.Thr748=)

SNV
Germline

Chr4:5622794

Conflicting classifications of pathogenicity

Condition: not provided
Curry-Hall syndrome
Ellis-van Creveld syndrome
EVC2-related disorder

Criteria Provided
Conflicting Classifications

CA240396

rs_146588335

4 SubmittersRCV000724347 RCV001082948 RCV003947477

NM_147127.5(EVC2):c.2301G>A (p.Gly767=)

SNV
Germline

Chr4:5622737

Conflicting classifications of pathogenicity

Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Conflicting Classifications

CA240398

rs_374178504

2 SubmittersRCV000174812 RCV002054060

NM_153717.3(EVC):c.1928G>A (p.Arg643His)

SNV
Germline

Chr4:5797063

Conflicting classifications of pathogenicity

Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA240400

rs_144906677

3 SubmittersRCV000174813 RCV002517680 RCV004020071

NM_153717.3(EVC):c.2322G>C (p.Ala774=)

SNV
Germline

Chr4:5801967

Conflicting classifications of pathogenicity

Condition: not provided
Curry-Hall syndrome
Ellis-van Creveld syndrome
Ellis-van Creveld syndrome

Criteria Provided
Conflicting Classifications

CA240795

rs_150373930

7 SubmittersRCV000175107 RCV001081648 RCV001153680

NM_153717.3(EVC):c.2305-6C>T

SNV
Germline

Chr4:5801944

Conflicting classifications of pathogenicity

Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome
not specified

Criteria Provided
Conflicting Classifications

CA240797

rs_781705295

3 SubmittersRCV000175108 RCV001079265 RCV003398888

NM_153717.3(EVC):c.569G>T (p.Arg190Leu)

SNV
Germline

Chr4:5731609

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA245489

rs_113002470

5 SubmittersRCV001157455 RCV001563967 RCV002515263 RCV000178396 RCV002517731

NM_153717.3(EVC):c.469C>G (p.Pro157Ala)

SNV
Germline

Chr4:5731509

Conflicting classifications of pathogenicity

not specified
Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA202846

rs_146729456

12 SubmittersRCV000178397 RCV000341901 RCV000878090 RCV001354236 RCV002517732

NM_147127.5(EVC2):c.3141G>A (p.Trp1047Ter)

SNV
Germline

Chr4:5576371

Pathogenic/Likely pathogenic

Ellis-van Creveld syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10575839

rs_886037764

3 SubmittersRCV000257943 RCV001781609

NM_147127.5(EVC2):c.2029C>A (p.Arg677=)

SNV
Germline

Chr4:5625766

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
EVC2-related disorder

Criteria Provided
Conflicting Classifications

CA2834861

rs_73198165

8 SubmittersRCV000224436 RCV000345805 RCV001154618 RCV001082655 RCV003937874

NM_147127.5(EVC2):c.3837G>A (p.Lys1279=)

SNV
Germline

Chr4:5562938

Conflicting classifications of pathogenicity

not specified
Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Conflicting Classifications

CA2834174

rs_201651890

4 SubmittersRCV000251614 RCV000267298 RCV000917722

NM_153717.3(EVC):c.2298C>T (p.Asp766=)

SNV
Germline

Chr4:5798786

Conflicting classifications of pathogenicity

not specified
Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2836433

rs_140546984

4 SubmittersRCV000250676 RCV000886490 RCV001153679 RCV001722365

NM_147127.5(EVC2):c.2476C>T (p.Arg826Ter)

SNV
Germline

Chr4:5622562

Pathogenic

Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA2834715

rs_548681312

3 SubmittersRCV000393643 RCV000672927 RCV001040343

NM_147127.5(EVC2):c.1823G>A (p.Arg608His)

SNV
Germline

Chr4:5628622

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Condition: not provided
Curry-Hall syndrome
Ellis-van Creveld syndrome
Type IV short rib polydactyly syndrome

Criteria Provided
Conflicting Classifications

CA2834927

rs_145693546

9 SubmittersRCV000340148 RCV000386025 RCV001085529 RCV000515816

NM_153717.3(EVC):c.550G>A (p.Asp184Asn)

SNV
Germline

Chr4:5731590

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Condition: not provided
Curry-Hall syndrome
Ellis-van Creveld syndrome
EVC-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA2835734

rs_41269549

14 SubmittersRCV000334802 RCV000725205 RCV001083825 RCV003930073 RCV003479090

NM_153717.3(EVC):c.1653G>A (p.Pro551=)

SNV
Germline

Chr4:5783641

Conflicting classifications of pathogenicity

Condition: not provided
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Conflicting Classifications

CA2836213

rs_151293705

3 SubmittersRCV000725216 RCV001085528

NM_153717.3(EVC):c.1892C>T (p.Thr631Met)

SNV
Germline

Chr4:5797027

Conflicting classifications of pathogenicity

Condition: not provided
Curry-Hall syndrome
Ellis-van Creveld syndrome
Ellis-van Creveld syndrome

Criteria Provided
Conflicting Classifications

CA2836311

rs_139481521

3 SubmittersRCV000343430 RCV001327716 RCV001828192

NM_153717.3(EVC):c.1540G>A (p.Glu514Lys)

SNV
Germline

Chr4:5756339

Conflicting classifications of pathogenicity

Condition: not provided
Curry-Hall syndrome
Ellis-van Creveld syndrome
Ellis-van Creveld syndrome

Criteria Provided
Conflicting Classifications

CA2836151

rs_141896077

3 SubmittersRCV000260082 RCV001303664 RCV001828193

NM_153717.3(EVC):c.2449+10C>A

SNV
Germline

Chr4:5802104

Conflicting classifications of pathogenicity

Condition: not provided
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Conflicting Classifications

CA2836504

rs_758387379

2 SubmittersRCV000369705 RCV001086991

NM_147127.5(EVC2):c.2517A>G (p.Ser839=)

SNV
Germline

Chr4:5618667

Conflicting classifications of pathogenicity

Condition: not provided
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Conflicting Classifications

CA2834677

rs_756424912

2 SubmittersRCV000286666 RCV001088663

NM_153717.3(EVC):c.1349C>T (p.Ala450Val)

SNV
Germline

Chr4:5753818

Conflicting classifications of pathogenicity

Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Conflicting Classifications

CA2836076

rs_749008952

3 SubmittersRCV000306837 RCV002518980

NM_147127.5(EVC2):c.126C>T (p.Leu42=)

SNV
Germline

Chr4:5708388

Conflicting classifications of pathogenicity

Condition: not provided
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Conflicting Classifications

CA2835554

rs_781009014

2 SubmittersRCV000295874 RCV001085651

NM_147127.5(EVC2):c.2340C>T (p.His780=)

SNV
Germline

Chr4:5622698

Conflicting classifications of pathogenicity

Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Conflicting Classifications

CA2834750

rs_150691722

3 SubmittersRCV000364333 RCV001085051 RCV001155336

NM_153717.3(EVC):c.89C>T (p.Pro30Leu)

SNV
Germline

Chr4:5711469

Conflicting classifications of pathogenicity

Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
not specified
EVC-related disorder

Criteria Provided
Conflicting Classifications

CA10606907

rs_886044558

9 SubmittersRCV000398177 RCV000536411 RCV001153149 RCV003479096 RCV003977813

NM_147127.5(EVC2):c.3659+2T>C

SNV
Germline

Chr4:5565256

Pathogenic/Likely pathogenic

Condition: not provided
Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
EVC2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA2834238

rs_200300612

6 SubmittersRCV000521259 RCV000665483 RCV000695869 RCV003922532

NM_147127.5(EVC2):c.3272+7C>T

SNV
Germline

Chr4:5576233

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2834396

rs_201048030

3 SubmittersRCV000388698 RCV000878616 RCV001812887

NM_147127.5(EVC2):c.2829+9A>C

SNV
Germline

Chr4:5615413

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Conflicting Classifications

CA2834570

rs_370232376

2 SubmittersRCV000271152 RCV000946261

NM_147127.5(EVC2):c.2039T>C (p.Leu680Pro)

SNV
Germline

Chr4:5625756

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
EVC2-related disorder
Ellis-van Creveld syndrome
Curry-Hall syndrome
not specified

Criteria Provided
Conflicting Classifications

CA2834859

rs_148407223

4 SubmittersRCV000406998 RCV003932421 RCV002520251 RCV003479103

NM_147127.5(EVC2):c.1498C>A (p.Arg500=)

SNV
Germline

Chr4:5632005

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Conflicting Classifications

CA2835029

rs_148248777

2 SubmittersRCV000297151 RCV000980610

NM_147127.5(EVC2):c.446G>A (p.Arg149His)

SNV
Germline

Chr4:5694339

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2835466

rs_202198132

3 SubmittersRCV000392759 RCV001812895 RCV004021963

NM_153717.3(EVC):c.105C>A (p.Gly35=)

SNV
Germline

Chr4:5711485

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2835569

rs_745558003

4 SubmittersRCV000290874 RCV000884781 RCV001310825

NM_153717.3(EVC):c.612C>T (p.Cys204=)

SNV
Germline

Chr4:5731652

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Conflicting Classifications

CA2835743

rs_553634958

2 SubmittersRCV000313721 RCV000878681

NM_153717.3(EVC):c.934G>A (p.Asp312Asn)

SNV
Germline

Chr4:5745336

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
not specified
Condition: not provided
EVC-related disorder

Criteria Provided
Conflicting Classifications

CA2835913

rs_115275195

8 SubmittersRCV000327158 RCV000945501 RCV000507948 RCV001796743 RCV003902349

NM_153717.3(EVC):c.1462G>A (p.Glu488Lys)

SNV
Germline

Chr4:5753931

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2836107

rs_146232611

3 SubmittersRCV000276458 RCV002520258 RCV004021967

NM_153717.3(EVC):c.1818A>C (p.Thr606=)

SNV
Germline

Chr4:5793649

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome
not specified

Criteria Provided
Conflicting Classifications

CA2836276

rs_202093497

4 SubmittersRCV000271821 RCV000831517 RCV001086649 RCV004525921

NM_153717.3(EVC):c.2869G>A (p.Gly957Arg)

SNV
Germline

Chr4:5810425

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Condition: not provided
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Conflicting Classifications

CA2836717

rs_35926225

4 SubmittersRCV000327257 RCV001591010 RCV000951965

NM_147127.5(EVC2):c.3174G>A (p.Leu1058=)

SNV
Germline

Chr4:5576338

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Conflicting Classifications

CA2834424

rs_555652075

2 SubmittersRCV000335220 RCV000939676

NM_147127.5(EVC2):c.2667C>T (p.Phe889=)

SNV
Germline

Chr4:5618517

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Conflicting Classifications

CA2834635

rs_201173415

2 SubmittersRCV000332340 RCV000977285

NM_153717.3(EVC):c.442T>C (p.Leu148=)

SNV
Germline

Chr4:5731482

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Condition: not provided
EVC-related disorder

Criteria Provided
Conflicting Classifications

CA2835702

rs_139931919

5 SubmittersRCV000289304 RCV000951716 RCV001653677 RCV003932422

NM_153717.3(EVC):c.2276G>A (p.Ser759Asn)

SNV
Germline

Chr4:5798764

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Inborn genetic diseases
EVC-related disorder

Criteria Provided
Conflicting Classifications

CA2836430

rs_201776972

4 SubmittersRCV000331568 RCV000971701 RCV003278784 RCV003950234

NM_153717.3(EVC):c.2391C>T (p.Ile797=)

SNV
Germline

Chr4:5802036

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Conflicting Classifications

CA2836481

rs_202236029

2 SubmittersRCV000332985 RCV001450677

NM_153717.3(EVC):c.2449+12C>G

SNV
Germline

Chr4:5802106

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Conflicting Classifications

CA2836505

rs_751678723

2 SubmittersRCV000285710 RCV002057939

NM_147127.5(EVC2):c.2706+13T>C

SNV
Germline

Chr4:5618465

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Conflicting Classifications

CA2834619

rs_200000369

2 SubmittersRCV000274778 RCV002061245

NM_147127.5(EVC2):c.*90C>T

SNV
Germline

Chr4:5562758

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10621275

rs_115810595

2 SubmittersRCV000302500 RCV001795967

NM_147127.5(EVC2):c.2864G>A (p.Arg955Gln)

SNV
Germline

Chr4:5584816

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2834538

rs_145786485

3 SubmittersRCV000363469 RCV002520248 RCV002520247

NM_147127.5(EVC2):c.2644A>G (p.Thr882Ala)

SNV
Germline

Chr4:5618540

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Conflicting Classifications

CA2834641

rs_190540235

2 SubmittersRCV000389188 RCV000966668

NM_147127.5(EVC2):c.1886+11A>G

SNV
Germline

Chr4:5628548

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Conflicting Classifications

CA2834910

rs_61218140

2 SubmittersRCV000289649 RCV002057932

NM_153717.3(EVC):c.802-12C>T

SNV
Germline

Chr4:5745192

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Conflicting Classifications

CA2835881

rs_61514191

3 SubmittersRCV000315095 RCV001564892 RCV002057936

NM_153717.3(EVC):c.1369G>A (p.Glu457Lys)

SNV
Germline

Chr4:5753838

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
not specified
Condition: not provided
EVC-related disorder

Criteria Provided
Conflicting Classifications

CA2836082

rs_141859946

11 SubmittersRCV000356036 RCV000542079 RCV000609966 RCV001573985 RCV003902350

NM_147127.5(EVC2):c.615G>A (p.Leu205=)

SNV
Germline

Chr4:5689248

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
EVC2-related disorder

Criteria Provided
Conflicting Classifications

CA2835385

rs_140864640

3 SubmittersRCV000400850 RCV000889252 RCV003970007

NM_153717.3(EVC):c.1528G>A (p.Val510Ile)

SNV
Germline

Chr4:5756327

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
not specified
Curry-Hall syndrome
Ellis-van Creveld syndrome
Condition: not provided
Inborn genetic diseases
EVC-related disorder

Criteria Provided
Conflicting Classifications

CA2836147

rs_143971158

9 SubmittersRCV000378158 RCV000613661 RCV001080199 RCV001573028 RCV003168537 RCV003902351

NM_153717.3(EVC):c.982C>T (p.Leu328Phe)

SNV
Germline

Chr4:5748190

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2835953

rs_199916502

4 SubmittersRCV000894732 RCV000673224 RCV001569130

NM_153717.3(EVC):c.1797G>A (p.Ala599=)

SNV
Germline

Chr4:5793628

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Conflicting Classifications

CA2836271

rs_199875230

2 SubmittersRCV000270802 RCV000952178

NM_153717.3(EVC):c.1696G>A (p.Ala566Thr)

SNV
Germline

Chr4:5783684

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
not specified

Criteria Provided
Conflicting Classifications

CA2836229

rs_144943762

4 SubmittersRCV000400680 RCV000972015 RCV003993937

NM_153717.3(EVC):c.1852G>A (p.Gly618Ser)

SNV
Germline

Chr4:5793683

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Conflicting Classifications

CA2836282

rs_777024713

2 SubmittersRCV000373289 RCV002057938

NM_153717.3(EVC):c.1956C>T (p.Arg652=)

SNV
Germline

Chr4:5797091

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Conflicting Classifications

CA2836329

rs_535012160

2 SubmittersRCV000399954 RCV001480990

NM_153717.3(EVC):c.2102C>T (p.Ala701Val)

SNV
Germline

Chr4:5798590

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Inborn genetic diseases
Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Conflicting Classifications

CA2836389

rs_571809727

3 SubmittersRCV000305465 RCV002523472 RCV002520260

NM_153717.3(EVC):c.1722C>T (p.Arg574=)

SNV
Germline

Chr4:5783710

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Conflicting Classifications

CA2836235

rs_144637923

2 SubmittersRCV000400477 RCV001455551

NM_153717.3(EVC):c.1878C>T (p.Leu626=)

SNV
Germline

Chr4:5793709

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Conflicting Classifications

CA2836289

rs_375743004

2 SubmittersRCV000307909 RCV000909716

NM_153717.3(EVC):c.2562-3C>T

SNV
Germline

Chr4:5808198

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2836612

rs_375960614

3 SubmittersRCV000311201 RCV000951863 RCV003992281

NM_153717.3(EVC):c.2961G>A (p.Lys987=)

SNV
Germline

Chr4:5811019

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Conflicting Classifications

CA2836776

rs_138808610

2 SubmittersRCV000295131 RCV000966565

NM_153717.3(EVC):c.802-1G>C

SNV
Unknown

Chr4:5745203

Likely pathogenic

Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

CA16040958

rs_150814290

1 SubmittersRCV000409380

NM_147127.5(EVC2):c.264C>A (p.Cys88Ter)

SNV
Germline

Chr4:5697612

Pathogenic/Likely pathogenic

Condition: not provided
Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16042489

rs_965707319

3 SubmittersRCV000414626 RCV000670598 RCV001861425

NM_153717.3(EVC):c.2712C>T (p.Ser904=)

SNV
Germline

Chr4:5809541

Conflicting classifications of pathogenicity

not specified
Curry-Hall syndrome
Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2836667

rs_146829332

4 SubmittersRCV000419813 RCV000945584 RCV001157954 RCV003114563

NM_147127.5(EVC2):c.887G>C (p.Gly296Ala)

SNV
Germline

Chr4:5665633

Conflicting classifications of pathogenicity

Condition: not provided
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Conflicting Classifications

CA2835239

rs_201083070

3 SubmittersRCV000756099 RCV001079719

NM_147127.5(EVC2):c.2897C>T (p.Ser966Leu)

SNV
Germline

Chr4:5584783

Conflicting classifications of pathogenicity

Condition: not provided
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Conflicting Classifications

CA2834530

rs_145425340

3 SubmittersRCV000489134 RCV000765771

NM_147127.5(EVC2):c.645G>A (p.Trp215Ter)

SNV
Germline

Chr4:5689218

Pathogenic

not specified
Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA2835380

rs_779857359

2 SubmittersRCV000505905 RCV001857266

NM_153717.3(EVC):c.2821C>T (p.Gln941Ter)

SNV
Germline

Chr4:5810377

Conflicting classifications of pathogenicity

Condition: not provided
Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Conflicting Classifications

CA91728088

rs_896581899

3 SubmittersRCV000513812 RCV000674041 RCV001215786

NM_147127.5(EVC2):c.3360+1G>A

SNV
Germline

Chr4:5574684

Pathogenic/Likely pathogenic

Jeune thoracic dystrophy
Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA356150501

rs_1553815019

4 SubmittersRCV000516027 RCV000673627 RCV003766905

NM_147127.5(EVC2):c.3121C>T (p.Gln1041Ter)

SNV
Germline

Chr4:5576391

Pathogenic/Likely pathogenic

Type IV short rib polydactyly syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
EVC2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA2834441

rs_376133710

6 SubmittersRCV000516007 RCV001228575 RCV003987575 RCV003979919

NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter)

SNV
Germline

Chr4:5631795

Pathogenic

Short-rib thoracic dysplasia 6 with or without polydactyly
Type IV short rib polydactyly syndrome
Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2834978

rs_769864196

8 SubmittersRCV000515819 RCV000516102 RCV000666197 RCV001245243 RCV001574376

NM_147127.5(EVC2):c.619G>T (p.Asp207Tyr)

SNV
Germline

Chr4:5689244

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
EVC2-related disorder

Criteria Provided
Conflicting Classifications

CA2835384

rs_761707323

5 SubmittersRCV000516039 RCV000667862 RCV001388085 RCV003915444

NM_153717.3(EVC):c.363C>A (p.Tyr121Ter)

SNV
Germline

Chr4:5729369

Pathogenic/Likely pathogenic

Short-rib thoracic dysplasia 6 with or without polydactyly
Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA91718338

rs_748523193

5 SubmittersRCV000516149 RCV000665849 RCV001045278

NM_153717.3(EVC):c.1500G>A (p.Met500Ile)

SNV
Germline

Chr4:5756299

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Condition: not provided
EVC-related disorder

Criteria Provided
Conflicting Classifications

CA2836142

rs_149898884

7 SubmittersRCV000673759 RCV000878646 RCV003159658 RCV003905290

NM_153717.3(EVC):c.1668C>G (p.Tyr556Ter)

SNV
Germline

Chr4:5783656

Pathogenic

Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

CA356160943

rs_765269619

3 SubmittersRCV000516024 RCV003766903

NM_147127.5(EVC2):c.2652G>A (p.Trp884Ter)

SNV
Germline

Chr4:5618532

Pathogenic/Likely pathogenic

Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA91696925

rs_981099037

2 SubmittersRCV000523403 RCV002525122

NM_153717.3(EVC):c.2164C>T (p.Gln722Ter)

SNV
Germline

Chr4:5798652

Pathogenic/Likely pathogenic

Condition: not provided
Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA356145068

rs_1553891936

3 SubmittersRCV000522119 RCV000674284 RCV001050511

NM_181426.2(CCDC39):c.1795C>T (p.Arg599Ter)

SNV
Germline

Chr3:180642072

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Ellis-van Creveld syndrome
Primary ciliary dyskinesia 14
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2715872

rs_201780665

5 SubmittersRCV000552448 RCV000754965 RCV001289545 RCV002223222

NM_153717.3(EVC):c.1684C>T (p.Gln562Ter)

SNV
Germline

Chr4:5783672

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2836221

rs_751772225

2 SubmittersRCV001383173 RCV001811028

NM_153717.3(EVC):c.617G>A (p.Ser206Asn)

SNV
Germline

Chr4:5731657

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Conflicting Classifications

CA91720320

rs_1017946059

4 SubmittersRCV000548054 RCV000673804

NM_147127.5(EVC2):c.913G>T (p.Ala305Ser)

SNV
Germline

Chr4:5665607

Conflicting classifications of pathogenicity

Curry-Hall syndrome
Ellis-van Creveld syndrome
not specified
Ellis-van Creveld syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2835223

rs_150367317

5 SubmittersRCV000550439 RCV000734269 RCV001151786 RCV001567553

NM_153717.3(EVC):c.2894+3A>G

SNV
Germline

Chr4:5810453

Pathogenic/Likely pathogenic

Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA549409031

rs_1424976594

5 SubmittersRCV000578283 RCV001049990

NM_153717.3(EVC):c.1315+8G>A

SNV
Germline

Chr4:5753060

Conflicting classifications of pathogenicity

Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Conflicting Classifications

CA2836054

rs_550411377

3 SubmittersRCV000593614 RCV001088560 RCV001273621

NM_147127.5(EVC2):c.463T>C (p.Ser155Pro)

SNV
Germline

Chr4:5691321

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome
EVC2-related disorder

Criteria Provided
Conflicting Classifications

CA2835440

rs_143388379

5 SubmittersRCV000595037 RCV000757233 RCV001083331 RCV003945392

NM_153717.3(EVC):c.1041G>A (p.Thr347=)

SNV
Germline

Chr4:5748249

Conflicting classifications of pathogenicity

Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Conflicting Classifications

CA2835967

rs_148418233

3 SubmittersRCV000596370 RCV001083089 RCV001271200

NM_153717.3(EVC):c.1315+7C>T

SNV
Germline

Chr4:5753059

Conflicting classifications of pathogenicity

Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Conflicting Classifications

CA658796417

rs_1252318929

2 SubmittersRCV000596511 RCV002062049

NM_153717.3(EVC):c.1851C>G (p.Arg617=)

SNV
Germline

Chr4:5793682

Conflicting classifications of pathogenicity

Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Conflicting Classifications

CA438203943

rs_967986192

2 SubmittersRCV000594161 RCV001089164

NM_147127.5(EVC2):c.129C>T (p.Gly43=)

SNV
Germline

Chr4:5708385

Conflicting classifications of pathogenicity

Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Conflicting Classifications

CA438206085

rs_985034372

2 SubmittersRCV000593229 RCV001361751

NM_153717.3(EVC):c.1940G>A (p.Arg647Gln)

SNV
Germline

Chr4:5797075

Conflicting classifications of pathogenicity

Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome
EVC-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA2836326

rs_35401386

5 SubmittersRCV000597585 RCV001084491 RCV003952980 RCV003994039

NM_153717.3(EVC):c.93C>G (p.Ala31=)

SNV
Germline

Chr4:5711473

Conflicting classifications of pathogenicity

Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
EVC-related disorder

Criteria Provided
Conflicting Classifications

CA91734939

rs_866226288

4 SubmittersRCV000594456 RCV001426483 RCV001834897 RCV003945414

NM_147127.5(EVC2):c.1169G>A (p.Arg390Gln)

SNV
Germline

Chr4:5640815

Conflicting classifications of pathogenicity

Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Conflicting Classifications

CA2835127

rs_367655073

3 SubmittersRCV000594247 RCV001086905

NM_153717.3(EVC):c.384G>T (p.Arg128=)

SNV
Germline

Chr4:5729390

Likely pathogenic

Ellis-van Creveld syndrome

No Assertion Criteria Provided

CA438204026

rs_1553865346

1 SubmittersRCV000625587

NM_153717.3(EVC):c.1770C>T (p.Asp590=)

SNV
Germline

Chr4:5783758

Conflicting classifications of pathogenicity

Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome
EVC-related disorder

Criteria Provided
Conflicting Classifications

CA2836242

rs_141755737

3 SubmittersRCV000733930 RCV001088218 RCV003953128

NM_153717.3(EVC):c.2236C>T (p.Gln746Ter)

SNV
Germline

Chr4:5798724

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Curry-Hall syndrome
EVC-related disorder

Criteria Provided
Conflicting Classifications

CA356145434

rs_1446547358

2 SubmittersRCV000637036 RCV004547793

NM_147127.5(EVC2):c.3859G>A (p.Val1287Ile)

SNV
Germline

Chr4:5562916

Conflicting classifications of pathogenicity

Condition: not provided
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Conflicting Classifications

rs_771435248

2 SubmittersRCV000658467 RCV001080173

NM_147127.5(EVC2):c.2350A>G (p.Met784Val)

SNV
Germline

Chr4:5622688

Conflicting classifications of pathogenicity

Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_202191109

3 SubmittersRCV000658466 RCV001082525 RCV002534289

NM_153717.3(EVC):c.928C>G (p.Leu310Val)

SNV
Germline

Chr4:5745330

Conflicting classifications of pathogenicity

Condition: not provided
Curry-Hall syndrome
Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
not specified

Criteria Provided
Conflicting Classifications

rs_145300726

4 SubmittersRCV000657891 RCV000689940 RCV000665471 RCV003317322

NM_147127.5(EVC2):c.3058-2A>G

SNV
Unknown

Chr4:5576456

Likely pathogenic

Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

rs_760066386

1 SubmittersRCV000672616

NM_147127.5(EVC2):c.2047-2A>G

SNV
Germline

Chr4:5622993

Likely pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553833239

3 SubmittersRCV000666009 RCV000763527

NM_147127.5(EVC2):c.1024A>T (p.Lys342Ter)

SNV
Germline

Chr4:5663228

Pathogenic/Likely pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_767072839

4 SubmittersRCV000665096 RCV001213406 RCV001328649

NM_147127.5(EVC2):c.817-2A>G

SNV
Unknown

Chr4:5681315

Likely pathogenic

Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

rs_1553849894

1 SubmittersRCV000671955

NM_153717.3(EVC):c.364C>T (p.Pro122Ser)

SNV
Germline

Chr4:5729370

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1407007311

3 SubmittersRCV000672061 RCV000998211

NM_153717.3(EVC):c.384+5G>C

SNV
Germline

Chr4:5729395

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
EVC-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1553865348

3 SubmittersRCV000666115 RCV003424269 RCV003432721

NM_153717.3(EVC):c.703-1G>A

SNV
Unknown

Chr4:5741715

Likely pathogenic

Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

rs_1485152854

1 SubmittersRCV000668921

NM_153717.3(EVC):c.801+2T>G

SNV
Unknown

Chr4:5741816

Likely pathogenic

Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

rs_1553871866

1 SubmittersRCV000674181

NM_153717.3(EVC):c.939+1G>C

SNV
Unknown

Chr4:5745342

Likely pathogenic

Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

rs_1553873138

1 SubmittersRCV000669809

NM_147127.5(EVC2):c.2484G>A (p.Trp828Ter)

SNV
Germline

Chr4:5622554

Pathogenic/Likely pathogenic

Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_770918273

2 SubmittersRCV000668731 RCV001042997

NM_147127.5(EVC2):c.2046+1G>T

SNV
Germline

Chr4:5625748

Likely pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_762947212

2 SubmittersRCV000669462 RCV001048959

NM_147127.5(EVC2):c.1471-1G>C

SNV
Unknown

Chr4:5632033

Likely pathogenic

Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

rs_1553837446

1 SubmittersRCV000674937

NM_147127.5(EVC2):c.3660-2A>G

SNV
Unknown

Chr4:5563117

Likely pathogenic

Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

rs_1553811863

1 SubmittersRCV000669912

NM_147127.5(EVC2):c.3057+1G>A

SNV
Unknown

Chr4:5584622

Likely pathogenic

Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

rs_1307502841

1 SubmittersRCV000668916

NM_147127.5(EVC2):c.451-2A>G

SNV
Germline

Chr4:5691335

Likely pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553851870

2 SubmittersRCV000670244 RCV001045528

NM_147127.5(EVC2):c.450+2T>C

SNV
Germline

Chr4:5694333

Likely pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_781096099

2 SubmittersRCV000670299 RCV000806029

NM_147127.5(EVC2):c.2830-1G>A

SNV
Unknown

Chr4:5584851

Likely pathogenic

Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

rs_1553818428

1 SubmittersRCV000672263

NM_147127.5(EVC2):c.450+1G>A

SNV
Unknown

Chr4:5694334

Likely pathogenic

Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

rs_1447633595

1 SubmittersRCV000672674

NM_147127.5(EVC2):c.2707-1G>T

SNV
Germline

Chr4:5615545

Likely pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_749251178

2 SubmittersRCV000673407 RCV002532148

NM_147127.5(EVC2):c.229-2A>G

SNV
Germline

Chr4:5697649

Likely pathogenic

Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_769799880

2 SubmittersRCV000668452 RCV001213458

NM_147127.5(EVC2):c.1711-1G>A

SNV
Germline

Chr4:5628735

Likely pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553836169

2 SubmittersRCV000670927 RCV001855549

NM_153717.3(EVC):c.1777-2A>G

SNV
Germline

Chr4:5793606

Pathogenic/Likely pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome
Condition: not provided
Ellis-van Creveld syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_909612975

4 SubmittersRCV001229451 RCV003432723 RCV000666935

NM_153717.3(EVC):c.1777-1G>A

SNV
Germline

Chr4:5793607

Pathogenic/Likely pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1262933856

4 SubmittersRCV000670126 RCV001038169

NM_153717.3(EVC):c.1813C>T (p.Gln605Ter)

SNV
Germline

Chr4:5793644

Pathogenic

Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

rs_1553889992

2 SubmittersRCV000671523

NM_153717.3(EVC):c.2098-1G>A

SNV
Germline

Chr4:5798585

Likely pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_773019082

2 SubmittersRCV000670543 RCV002531254

NM_153717.3(EVC):c.2304+2T>C

SNV
Germline

Chr4:5798794

Pathogenic/Likely pathogenic

Ellis-van Creveld syndrome
Condition: not provided
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553892090

3 SubmittersRCV000667205 RCV000734396 RCV002532061

NM_153717.3(EVC):c.2449+1G>A

SNV
Germline

Chr4:5802095

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Conflicting Classifications

rs_1553893423

4 SubmittersRCV000666355 RCV001378311

NM_147127.5(EVC2):c.3598C>T (p.Arg1200Ter)

SNV
Germline

Chr4:5565319

Pathogenic/Likely pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1305301849

2 SubmittersRCV000669199 RCV001216770

NM_147127.5(EVC2):c.769G>T (p.Glu257Ter)

SNV
Germline

Chr4:5685417

Pathogenic/Likely pathogenic

Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553850677

2 SubmittersRCV000668603 RCV001214748

NM_147127.5(EVC2):c.3134C>T (p.Ala1045Val)

SNV
Germline

Chr4:5576378

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_750108569

2 SubmittersRCV000671919 RCV003159150

NM_147127.5(EVC2):c.2620C>T (p.Arg874Ter)

SNV
Germline

Chr4:5618564

Pathogenic/Likely pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_760382778

3 SubmittersRCV000670205 RCV000702796 RCV001560317

NM_153717.3(EVC):c.2782+1G>T

SNV
Germline

Chr4:5809612

Pathogenic/Likely pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1007534611

5 SubmittersRCV000672556 RCV001213995

NM_147127.5(EVC2):c.2046+1G>C

SNV
Germline

Chr4:5625748

Likely pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_762947212

2 SubmittersRCV000670218 RCV003767983

NM_147127.5(EVC2):c.2029C>T (p.Arg677Ter)

SNV
Germline

Chr4:5625766

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_73198165

3 SubmittersRCV000665358 RCV001382204 RCV001784231

NM_147127.5(EVC2):c.1887-1G>A

SNV
Unknown

Chr4:5625909

Likely pathogenic

Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

rs_1490912913

1 SubmittersRCV000674180

NM_153717.3(EVC):c.2T>A (p.Met1Lys)

SNV
Germline

Chr4:5711382

Pathogenic/Likely pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553857801

2 SubmittersRCV000674216 RCV001378366

NM_147127.5(EVC2):c.942G>A (p.Trp314Ter)

SNV
Germline

Chr4:5665578

Pathogenic/Likely pathogenic

Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
EVC2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_763363403

4 SubmittersRCV000665893 RCV001207757 RCV003420174

NM_153717.3(EVC):c.134G>A (p.Trp45Ter)

SNV
Germline

Chr4:5711514

Likely pathogenic

Ellis-van Creveld syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553857995

2 SubmittersRCV000674011 RCV003144475

NM_147127.5(EVC2):c.816+2T>C

SNV
Germline

Chr4:5685368

Pathogenic/Likely pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1294715119

2 SubmittersRCV000667487 RCV001861758

NM_147127.5(EVC2):c.745C>T (p.Gln249Ter)

SNV
Germline

Chr4:5685441

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1236566474

2 SubmittersRCV000667298 RCV001236351

NM_147127.5(EVC2):c.229-1G>T

SNV
Germline

Chr4:5697648

Likely pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1214848359

2 SubmittersRCV000671776 RCV001222326

NM_147127.5(EVC2):c.133C>T (p.Gln45Ter)

SNV
Germline

Chr4:5708381

Pathogenic/Likely pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1477102573

2 SubmittersRCV000666395 RCV001390829

NM_153717.3(EVC):c.1678G>T (p.Glu560Ter)

SNV
Germline

Chr4:5783666

Pathogenic/Likely pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_764397417

5 SubmittersRCV000668673 RCV001047674

NM_153717.3(EVC):c.1868T>C (p.Leu623Pro)

SNV
Germline

Chr4:5793699

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Curry-Hall syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Conflicting Classifications

rs_1373632260

4 SubmittersRCV000668661 RCV001333014 RCV001855505

NM_153717.3(EVC):c.2097+1G>T

SNV
Germline

Chr4:5797233

Likely pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553891368

2 SubmittersRCV000672868 RCV002531324

NM_153717.3(EVC):c.301-1G>A

SNV
Germline

Chr4:5729306

Likely pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1363547577

2 SubmittersRCV000672542 RCV003767997

NM_153717.3(EVC):c.702+1G>A

SNV
Unknown

Chr4:5733436

Likely pathogenic

Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

rs_1553867138

1 SubmittersRCV000669260

NM_153717.3(EVC):c.1060G>T (p.Glu354Ter)

SNV
Germline

Chr4:5748268

Pathogenic/Likely pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_779915989

3 SubmittersRCV000667721 RCV001855487

NM_153717.3(EVC):c.1564-2A>G

SNV
Unknown

Chr4:5783550

Likely pathogenic

Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

rs_1553886849

1 SubmittersRCV000673971

NM_153717.3(EVC):c.2561+1G>A

SNV
Germline

Chr4:5804842

Pathogenic/Likely pathogenic

Ellis-van Creveld syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553894457

2 SubmittersRCV000665984

NM_153717.3(EVC):c.2688+1G>C

SNV
Germline

Chr4:5808328

Likely pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553895776

2 SubmittersRCV000669817 RCV003767978

NM_153717.3(EVC):c.175-9G>A

SNV
Germline

Chr4:5719239

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Conflicting Classifications

rs_753317536

3 SubmittersRCV000754968 RCV002275101 RCV002531369

NM_147127.5(EVC2):c.341C>G (p.Ser114Ter)

SNV
Germline

Chr4:5694444

Pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

rs_748820015

1 SubmittersRCV000704338

NM_147127.5(EVC2):c.2304G>C (p.Val768=)

SNV
Germline

Chr4:5622734

Conflicting classifications of pathogenicity

Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Conflicting Classifications

rs_139936564

3 SubmittersRCV000728033 RCV001082511

NM_147127.5(EVC2):c.765C>T (p.Asn255=)

SNV
Germline

Chr4:5685421

Conflicting classifications of pathogenicity

Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Conflicting Classifications

rs_139129327

3 SubmittersRCV000728037 RCV001085162

NM_153717.3(EVC):c.1203C>T (p.Ser401=)

SNV
Germline

Chr4:5752940

Conflicting classifications of pathogenicity

Condition: not provided
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Conflicting Classifications

rs_867155796

2 SubmittersRCV000728911 RCV002067091

NM_147127.5(EVC2):c.3468G>A (p.Leu1156=)

SNV
Germline

Chr4:5568533

Conflicting classifications of pathogenicity

Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Conflicting Classifications

rs_201460514

4 SubmittersRCV000756098 RCV001146052 RCV001083090

NM_153717.3(EVC):c.1963G>A (p.Ala655Thr)

SNV
Germline

Chr4:5797098

Conflicting classifications of pathogenicity

Condition: not provided
Curry-Hall syndrome
Ellis-van Creveld syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_149344570

4 SubmittersRCV000757227 RCV001085326 RCV002533804

NM_153717.3(EVC):c.918C>A (p.Tyr306Ter)

SNV
Germline

Chr4:5745320

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Curry-Hall syndrome
EVC-related disorder

Criteria Provided
Conflicting Classifications

rs_1560323242

2 SubmittersRCV001856175 RCV004549854

NM_153717.3(EVC):c.1489C>T (p.Gln497Ter)

SNV
Germline

Chr4:5756288

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Curry-Hall syndrome
EVC-related disorder

Criteria Provided
Conflicting Classifications

rs_1460597472

2 SubmittersRCV003768448 RCV004549855

NM_147127.5(EVC2):c.3205C>T (p.Gln1069Ter)

SNV
Germline

Chr4:5576307

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

rs_144167138

1 SubmittersRCV000801826

NM_147127.5(EVC2):c.2368C>T (p.Gln790Ter)

SNV
Germline

Chr4:5622670

Pathogenic/Likely pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1577170055

2 SubmittersRCV000815558

NM_147127.5(EVC2):c.2092C>T (p.Arg698Ter)

SNV
Germline

Chr4:5622946

Pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_781623802

2 SubmittersRCV000812864 RCV003736910

NM_153717.3(EVC):c.2562-2A>G

SNV
Germline

Chr4:5808199

Likely pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

rs_1293098417

1 SubmittersRCV000800691

NM_147127.5(EVC2):c.2830-1G>T

SNV
Germline

Chr4:5584851

Likely pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

rs_1553818428

1 SubmittersRCV000818984

NM_147127.5(EVC2):c.707-2A>C

SNV
Germline

Chr4:5685481

Pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

rs_1302074641

1 SubmittersRCV000809734

NM_153717.3(EVC):c.2707A>G (p.Ile903Val)

SNV
Germline

Chr4:5809536

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_143678893

4 SubmittersRCV001271213 RCV000878661 RCV001731968

NM_147127.5(EVC2):c.1005+3G>A

SNV
Germline

Chr4:5665512

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Curry-Hall syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_141371552

2 SubmittersRCV000878610 RCV002267036

NM_147127.5(EVC2):c.3431G>A (p.Ser1144Asn)

SNV
Germline

Chr4:5568570

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
EVC2-related disorder

Criteria Provided
Conflicting Classifications

rs_200609501

3 SubmittersRCV000951170 RCV001148848 RCV003960625

NM_147127.5(EVC2):c.3411C>T (p.Ala1137=)

SNV
Germline

Chr4:5568590

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_144532809

4 SubmittersRCV000951820 RCV001148849 RCV001000459 RCV003438621

NM_147127.5(EVC2):c.1452G>A (p.Leu484=)

SNV
Germline

Chr4:5640532

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Curry-Hall syndrome
not specified
Ellis-van Creveld syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_137884710

5 SubmittersRCV000951680 RCV001001892 RCV001155560 RCV001565167

NM_147127.5(EVC2):c.903G>T (p.Gly301=)

SNV
Germline

Chr4:5665617

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Conflicting Classifications

rs_745889694

2 SubmittersRCV000945687 RCV001151788

NM_153717.3(EVC):c.589G>T (p.Ala197Ser)

SNV
Germline

Chr4:5731629

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_115507440

5 SubmittersRCV000950901 RCV001276227 RCV001811546 RCV004029812

NM_153717.3(EVC):c.717T>A (p.Ile239=)

SNV
Germline

Chr4:5741730

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
EVC-related disorder

Criteria Provided
Conflicting Classifications

rs_372312182

4 SubmittersRCV000945337 RCV001152194 RCV003970640

NM_153717.3(EVC):c.1612C>G (p.Leu538Val)

SNV
Germline

Chr4:5783600

Conflicting classifications of pathogenicity

Curry-Hall syndrome
Ellis-van Creveld syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_147772724

2 SubmittersRCV000945590 RCV002548230

NM_147127.5(EVC2):c.3543C>T (p.Asp1181=)

SNV
Germline

Chr4:5568458

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Conflicting Classifications

rs_762696562

2 SubmittersRCV000908907 RCV001146051

NM_153717.3(EVC):c.2805G>A (p.Arg935=)

SNV
Germline

Chr4:5810361

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Conflicting Classifications

rs_143631233

3 SubmittersRCV000908573 RCV001152500

NM_147127.5(EVC2):c.2310G>T (p.Trp770Cys)

SNV
Germline

Chr4:5622728

Conflicting classifications of pathogenicity

Curry-Hall syndrome
Ellis-van Creveld syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_572056540

3 SubmittersRCV000911221 RCV003145235

NM_147127.5(EVC2):c.1998G>A (p.Lys666=)

SNV
Germline

Chr4:5625797

Conflicting classifications of pathogenicity

Curry-Hall syndrome
Ellis-van Creveld syndrome
Ellis-van Creveld syndrome

Criteria Provided
Conflicting Classifications

rs_201835379

2 SubmittersRCV000926618 RCV001154619

NM_147127.5(EVC2):c.1083C>T (p.Asn361=)

SNV
Germline

Chr4:5663169

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Conflicting Classifications

rs_142231129

2 SubmittersRCV000921763 RCV001157247

NM_153717.3(EVC):c.1242C>T (p.Ser414=)

SNV
Germline

Chr4:5752979

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Conflicting Classifications

rs_769206763

3 SubmittersRCV000911342 RCV001152300

NM_147127.5(EVC2):c.3315G>A (p.Leu1105=)

SNV
Germline

Chr4:5574730

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Conflicting Classifications

rs_1006097259

2 SubmittersRCV001148852 RCV001501911

NM_153717.3(EVC):c.758C>G (p.Ser253Ter)

SNV
Germline

Chr4:5741771

Pathogenic

Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

rs_762795511

1 SubmittersRCV000991073

NM_153717.3(EVC):c.940-150T>C

SNV
Germline

Chr4:5747998

Conflicting classifications of pathogenicity

not specified
Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Conflicting Classifications

rs_576076928

4 SubmittersRCV001002557 RCV001427903 RCV001272633

NM_147127.5(EVC2):c.3140G>A (p.Trp1047Ter)

SNV
Germline

Chr4:5576372

Pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

rs_200560762

1 SubmittersRCV001049244

NM_147127.5(EVC2):c.2539G>T (p.Glu847Ter)

SNV
Germline

Chr4:5618645

Pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

rs_1715453232

1 SubmittersRCV001048066

NM_147127.5(EVC2):c.2398C>T (p.Gln800Ter)

SNV
Germline

Chr4:5622640

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

rs_1282621867

1 SubmittersRCV001060270

NM_147127.5(EVC2):c.1606G>T (p.Glu536Ter)

SNV
Germline

Chr4:5631897

Pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

rs_1284395468

1 SubmittersRCV001052472

NM_147127.5(EVC2):c.668C>A (p.Ser223Ter)

SNV
Germline

Chr4:5689195

Pathogenic/Likely pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome
EVC2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_999964757

2 SubmittersRCV001055590 RCV003413868

NM_153717.3(EVC):c.1717A>G (p.Asn573Asp)

SNV
Germline

Chr4:5783705

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1373148885

3 SubmittersRCV001044889 RCV001832427 RCV002552569

NM_153717.3(EVC):c.2014C>T (p.Gln672Ter)

SNV
Germline

Chr4:5797149

Pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

rs_774949132

1 SubmittersRCV001041122

NM_153717.3(EVC):c.2446C>T (p.Gln816Ter)

SNV
Germline

Chr4:5802091

Pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

rs_374752679

1 SubmittersRCV001035927

NM_153717.3(EVC):c.2731C>T (p.Arg911Ter)

SNV
Germline

Chr4:5809560

Pathogenic/Likely pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome
Condition: not provided
Ellis-van Creveld syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_767400887

6 SubmittersRCV001054953 RCV001169863 RCV001729784

NM_147127.5(EVC2):c.3361-2A>G

SNV
Germline

Chr4:5568642

Likely pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

rs_1036371676

1 SubmittersRCV001052250

NM_153717.3(EVC):c.1886+1G>C

SNV
Germline

Chr4:5793718

Likely pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

rs_753679094

1 SubmittersRCV001068092

NM_153717.3(EVC):c.617+1G>A

SNV
Germline

Chr4:5731658

Likely pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

rs_1726841476

1 SubmittersRCV001048504

NM_147127.5(EVC2):c.3289C>G (p.Gln1097Glu)

SNV
Germline

Chr4:5574756

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_150215092

2 SubmittersRCV001148854 RCV003246729

NM_147127.5(EVC2):c.2707-9C>G

SNV
Germline

Chr4:5615553

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Conflicting Classifications

rs_772234395

2 SubmittersRCV001146169 RCV001490629

NM_147127.5(EVC2):c.1122G>A (p.Gly374=)

SNV
Germline

Chr4:5663130

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Conflicting Classifications

rs_780172151

2 SubmittersRCV001157246 RCV001493148

NM_147127.5(EVC2):c.597C>T (p.Asn199=)

SNV
Germline

Chr4:5689266

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Conflicting Classifications

rs_1003816966

2 SubmittersRCV001155659 RCV003769746

NM_153717.3(EVC):c.1074C>T (p.Cys358=)

SNV
Germline

Chr4:5748282

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Conflicting Classifications

rs_921573510

2 SubmittersRCV001157778 RCV001400163

NM_153717.3(EVC):c.*3T>G

SNV
Germline

Chr4:5811040

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
EVC-related disorder

Criteria Provided
Conflicting Classifications

rs_368249789

2 SubmittersRCV001152501 RCV003906271

NM_147127.5(EVC2):c.706+13C>T

SNV
Germline

Chr4:5689144

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Conflicting Classifications

rs_371526145

2 SubmittersRCV001153034 RCV002070863

NM_147127.5(EVC2):c.284-10T>G

SNV
Germline

Chr4:5694511

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Conflicting Classifications

rs_1192584069

2 SubmittersRCV001157337 RCV002070937

NM_153717.3(EVC):c.2782+15C>G

SNV
Germline

Chr4:5809626

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Conflicting Classifications

rs_373862588

2 SubmittersRCV001152499 RCV003769730

NM_153717.3(EVC):c.2450-1G>A

SNV
Germline

Chr4:5804729

Likely pathogenic

Ellis-van Creveld syndrome

No Assertion Criteria Provided

rs_1715585498

1 SubmittersRCV001175204

NM_153717.3(EVC):c.612C>A (p.Cys204Ter)

SNV
Germline

Chr4:5731652

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

rs_553634958

1 SubmittersRCV001222961

NM_153717.3(EVC):c.2146C>T (p.Gln716Ter)

SNV
Germline

Chr4:5798634

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

rs_1714412021

1 SubmittersRCV001223333

NM_153717.3(EVC):c.829C>T (p.Gln277Ter)

SNV
Germline

Chr4:5745231

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

rs_1251648799

1 SubmittersRCV001204407

NM_153717.3(EVC):c.1864C>T (p.Arg622Ter)

SNV
Germline

Chr4:5793695

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

rs_1329006994

2 SubmittersRCV001201711 RCV001828620

NM_147127.5(EVC2):c.519+2T>C

SNV
Germline

Chr4:5691263

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

rs_1721102486

1 SubmittersRCV001206918

NM_153717.3(EVC):c.1886+2T>G

SNV
Germline

Chr4:5793719

Likely pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

rs_1713228964

1 SubmittersRCV001211362

NM_153717.3(EVC):c.703-1G>C

SNV
Germline

Chr4:5741715

Likely pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

rs_1485152854

1 SubmittersRCV001214558

NM_153717.3(EVC):c.939+1G>A

SNV
Germline

Chr4:5745342

Likely pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

rs_1553873138

2 SubmittersRCV001223287 RCV001833932

NM_153717.3(EVC):c.2098-2A>G

SNV
Germline

Chr4:5798584

Likely pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

rs_1714398710

1 SubmittersRCV001223607

NM_147127.5(EVC2):c.644G>A (p.Trp215Ter)

SNV
Germline

Chr4:5689219

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

rs_1720937470

1 SubmittersRCV001235949

NM_153717.3(EVC):c.973C>T (p.Gln325Ter)

SNV
Germline

Chr4:5748181

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

rs_1729654379

1 SubmittersRCV001243415

NM_147127.5(EVC2):c.2833C>T (p.Arg945Ter)

SNV
Germline

Chr4:5584847

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1301855639

2 SubmittersRCV001267667 RCV001386726

NM_147127.5(EVC2):c.2483G>A (p.Trp828Ter)

SNV
Germline

Chr4:5622555

Pathogenic

Condition: not provided
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1715768907

2 SubmittersRCV001812320 RCV001871668

NM_147127.5(EVC2):c.3751G>T (p.Glu1251Ter)

SNV
Germline

Chr4:5563024

Pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

rs_769520928

1 SubmittersRCV001304603

NM_153717.3(EVC):c.107C>G (p.Ala36Gly)

SNV
Germline

Chr4:5711487

Conflicting classifications of pathogenicity

Curry-Hall syndrome
Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
EVC-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1219807707

4 SubmittersRCV001300483 RCV001830172 RCV003973195 RCV004036164

NM_147127.5(EVC2):c.2706+1G>A

SNV
Germline

Chr4:5618477

Likely pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

rs_2108833043

1 SubmittersRCV001377221

NM_147127.5(EVC2):c.1710+2T>C

SNV
Germline

Chr4:5631791

Likely pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

rs_2108851273

1 SubmittersRCV001379523

NM_147127.5(EVC2):c.816+2T>A

SNV
Germline

Chr4:5685368

Likely pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

rs_1294715119

1 SubmittersRCV001379931

NM_153717.3(EVC):c.175-2A>G

SNV
Germline

Chr4:5719246

Pathogenic/Likely pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_767186464

2 SubmittersRCV001377982 RCV003325231

NM_147127.5(EVC2):c.2897C>A (p.Ser966Ter)

SNV
Germline

Chr4:5584783

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

rs_145425340

1 SubmittersRCV001383513

NM_147127.5(EVC2):c.1967T>A (p.Leu656Ter)

SNV
Germline

Chr4:5625828

Pathogenic/Likely pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1367694162

2 SubmittersRCV001386071

NM_147127.5(EVC2):c.1410C>G (p.Tyr470Ter)

SNV
Germline

Chr4:5640574

Pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

rs_2108863739

1 SubmittersRCV001389734

NM_147127.5(EVC2):c.253A>T (p.Lys85Ter)

SNV
Germline

Chr4:5697623

Pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

rs_2151739558

1 SubmittersRCV001390304

NM_147127.5(EVC2):c.104C>G (p.Ser35Ter)

SNV
Germline

Chr4:5708410

Pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

rs_2151750076

1 SubmittersRCV001389765

NM_153717.3(EVC):c.539C>A (p.Ser180Ter)

SNV
Germline

Chr4:5731579

Pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

rs_762136199

1 SubmittersRCV001382945

NM_153717.3(EVC):c.1021C>T (p.Gln341Ter)

SNV
Germline

Chr4:5748229

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

rs_1729663828

1 SubmittersRCV001385786

NM_153717.3(EVC):c.1228G>T (p.Glu410Ter)

SNV
Germline

Chr4:5752965

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

rs_2152076522

1 SubmittersRCV001385913

NM_153717.3(EVC):c.2545C>T (p.Gln849Ter)

SNV
Germline

Chr4:5804825

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

rs_561852174

1 SubmittersRCV001387037

NM_153717.3(EVC):c.2098-1G>C

SNV
Germline

Chr4:5798585

Likely pathogenic

Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

rs_773019082

1 SubmittersRCV001580698

NM_153717.3(EVC):c.2519C>T (p.Thr840Met)

SNV
Germline

Chr4:5804799

Conflicting classifications of pathogenicity

Condition: not provided
Curry-Hall syndrome
Ellis-van Creveld syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_143464806

3 SubmittersRCV001752388 RCV002544096 RCV004040230

NM_153717.3(EVC):c.1327C>T (p.Arg443Ter)

SNV
Germline

Chr4:5753796

Pathogenic

Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1730760070

2 SubmittersRCV001806404 RCV002541450

NM_153717.3(EVC):c.77C>T (p.Ala26Val)

SNV
Germline

Chr4:5711457

Conflicting classifications of pathogenicity

Condition: not provided
Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Conflicting Classifications

rs_1035520087

2 SubmittersRCV001843623 RCV002543272

NM_147127.5(EVC2):c.1710+1G>A

SNV
Germline

Chr4:5631792

Likely pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

rs_2108851279

1 SubmittersRCV001959620

NM_153717.3(EVC):c.940-150T>G

SNV
Germline

Chr4:5747998

Likely pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

rs_576076928

1 SubmittersRCV002031272

NM_153717.3(EVC):c.721A>T (p.Lys241Ter)

SNV
Germline

Chr4:5741734

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

rs_2152000498

1 SubmittersRCV001993000

NM_153717.3(EVC):c.788C>G (p.Ser263Ter)

SNV
Germline

Chr4:5741801

Pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

rs_2152001027

1 SubmittersRCV001899273

NM_153717.3(EVC):c.2488G>T (p.Glu830Ter)

SNV
Germline

Chr4:5804768

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

rs_2152375194

1 SubmittersRCV001892851

NM_147127.5(EVC2):c.1470+1G>C

SNV
Germline

Chr4:5640513

Likely pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

rs_1577194652

1 SubmittersRCV001990716

NM_147127.5(EVC2):c.3655C>T (p.Gln1219Ter)

SNV
Germline

Chr4:5565262

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

rs_369739594

1 SubmittersRCV001889169

NM_147127.5(EVC2):c.2046+1G>A

SNV
Germline

Chr4:5625748

Likely pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

rs_762947212

1 SubmittersRCV001991637

NM_153717.3(EVC):c.1168C>T (p.Gln390Ter)

SNV
Germline

Chr4:5752905

Pathogenic/Likely pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome
EVC-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1560340266

2 SubmittersRCV001941809 RCV003395319

NM_153717.3(EVC):c.2132A>G (p.Glu711Gly)

SNV
Germline

Chr4:5798620

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Curry-Hall syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_373726507

3 SubmittersRCV001964191 RCV002571287

NM_153717.3(EVC):c.1324C>T (p.Gln442Ter)

SNV
Germline

Chr4:5753793

Pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

rs_753152908

1 SubmittersRCV001917509

NM_147127.5(EVC2):c.816+1G>T

SNV
Germline

Chr4:5685369

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

rs_1355905411

1 SubmittersRCV002019716

NM_147127.5(EVC2):c.2729C>G (p.Ser910Ter)

SNV
Germline

Chr4:5615522

Pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

rs_2108829049

1 SubmittersRCV001884555

NM_147127.5(EVC2):c.802C>T (p.Gln268Ter)

SNV
Germline

Chr4:5685384

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

rs_2151728030

1 SubmittersRCV001959706

NM_147127.5(EVC2):c.870+1G>A

SNV
Germline

Chr4:5681259

Likely pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

rs_2151724043

1 SubmittersRCV002019155

NM_153717.3(EVC):c.2078G>A (p.Trp693Ter)

SNV
Germline

Chr4:5797213

Pathogenic/Likely pathogenic

Ellis-van Creveld syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1714132239

2 SubmittersRCV002307806 RCV002037849

NM_147127.5(EVC2):c.1896C>A (p.Tyr632Ter)

SNV
Germline

Chr4:5625899

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

rs_779707723

1 SubmittersRCV002002395

NM_147127.5(EVC2):c.1330C>T (p.Gln444Ter)

SNV
Germline

Chr4:5640654

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

rs_372215987

1 SubmittersRCV002037810

NM_153717.3(EVC):c.25A>T (p.Lys9Ter)

SNV
Germline

Chr4:5711405

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

rs_1425513399

1 SubmittersRCV002007593

NM_147127.5(EVC2):c.2188C>T (p.Gln730Ter)

SNV
Germline

Chr4:5622850

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

rs_2108839112

1 SubmittersRCV001960740

NM_147127.5(EVC2):c.3273-2A>C

SNV
Germline

Chr4:5574774

Likely pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

rs_2108777040

1 SubmittersRCV002009459

NM_153717.3(EVC):c.1687G>T (p.Glu563Ter)

SNV
Germline

Chr4:5783675

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

rs_539010490

1 SubmittersRCV001941596

NM_147127.5(EVC2):c.820A>T (p.Arg274Ter)

SNV
Germline

Chr4:5681310

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

rs_2151724149

1 SubmittersRCV001950069

NM_147127.5(EVC2):c.1303C>T (p.Gln435Ter)

SNV
Germline

Chr4:5640681

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

rs_1369020144

1 SubmittersRCV001946943

NM_147127.5(EVC2):c.706+2T>C

SNV
Germline

Chr4:5689155

Likely pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1360260333

2 SubmittersRCV002030119

NM_147127.5(EVC2):c.986A>G (p.Asn329Ser)

SNV
Germline

Chr4:5665534

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Curry-Hall syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_368314615

2 SubmittersRCV001912974 RCV004041789

NM_147127.5(EVC2):c.832A>T (p.Lys278Ter)

SNV
Germline

Chr4:5681298

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

rs_942590430

1 SubmittersRCV001936430

NM_147127.5(EVC2):c.117G>A (p.Trp39Ter)

SNV
Germline

Chr4:5708397

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

rs_2151750059

1 SubmittersRCV001946640

NM_153717.3(EVC):c.1501C>T (p.Gln501Ter)

SNV
Germline

Chr4:5756300

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

rs_373088008

1 SubmittersRCV001956415

NM_147127.5(EVC2):c.116G>A (p.Trp39Ter)

SNV
Germline

Chr4:5708398

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

rs_1345487794

1 SubmittersRCV001951340

NM_153717.3(EVC):c.2698C>T (p.Gln900Ter)

SNV
Germline

Chr4:5809527

Pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

rs_1039706882

1 SubmittersRCV001883666

NM_147127.5(EVC2):c.2829+1G>A

SNV
Germline

Chr4:5615421

Likely pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

rs_752255602

1 SubmittersRCV002010308

NM_153717.3(EVC):c.286A>T (p.Lys96Ter)

SNV
Germline

Chr4:5719359

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

rs_2151842550

1 SubmittersRCV001985091

NM_147127.5(EVC2):c.3023C>A (p.Ser1008Ter)

SNV
Germline

Chr4:5584657

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

rs_60809236

1 SubmittersRCV001949568

NM_153717.3(EVC):c.174+1G>T

SNV
Germline

Chr4:5711555

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

rs_2151768710

1 SubmittersRCV001956567

NM_153717.3(EVC):c.1886+5G>A

SNV
Germline

Chr4:5793722

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_794726665

2 SubmittersRCV001958682 RCV003225211

NM_147127.5(EVC2):c.1529T>A (p.Leu510Ter)

SNV
Germline

Chr4:5631974

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

rs_2108851695

1 SubmittersRCV001951546

NM_147127.5(EVC2):c.655G>T (p.Gly219Ter)

SNV
Germline

Chr4:5689208

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

rs_745404766

1 SubmittersRCV001895069

NM_147127.5(EVC2):c.380T>A (p.Leu127Ter)

SNV
Germline

Chr4:5694405

Likely pathogenic

Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

rs_2151736638

1 SubmittersRCV002240134

NM_147127.5(EVC2):c.3043G>T (p.Glu1015Ter)

SNV
Unknown

Chr4:5584637

Likely pathogenic

Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002309656

NM_147127.5(EVC2):c.316A>T (p.Lys106Ter)

SNV
Unknown

Chr4:5694469

Likely pathogenic

Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002309770

NM_147127.5(EVC2):c.2737A>T (p.Lys913Ter)

SNV
Unknown

Chr4:5615514

Likely pathogenic

Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002309819

NM_147127.5(EVC2):c.2878G>T (p.Glu960Ter)

SNV
Unknown

Chr4:5584802

Likely pathogenic

Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002309836

NM_147127.5(EVC2):c.2764A>T (p.Lys922Ter)

SNV
Unknown

Chr4:5615487

Likely pathogenic

Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002309841

NM_147127.5(EVC2):c.1313T>A (p.Leu438Ter)

SNV
Unknown

Chr4:5640671

Likely pathogenic

Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002309870

NM_153717.3(EVC):c.2191G>T (p.Glu731Ter)

SNV
Germline

Chr4:5798679

Pathogenic/Likely pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002309081 RCV003099152

NM_153717.3(EVC):c.857C>A (p.Ser286Ter)

SNV
Unknown

Chr4:5745259

Likely pathogenic

Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002309231

NM_153717.3(EVC):c.2026G>T (p.Glu676Ter)

SNV
Unknown

Chr4:5797161

Likely pathogenic

Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002306859

NM_147127.5(EVC2):c.3535C>T (p.Gln1179Ter)

SNV
Unknown

Chr4:5568466

Likely pathogenic

Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002306910

NM_147127.5(EVC2):c.1186G>T (p.Glu396Ter)

SNV
Unknown

Chr4:5640798

Likely pathogenic

Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002306988

NM_147127.5(EVC2):c.1896C>G (p.Tyr632Ter)

SNV
Unknown

Chr4:5625899

Likely pathogenic

Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002307013

NM_153717.3(EVC):c.2041G>T (p.Glu681Ter)

SNV
Unknown

Chr4:5797176

Likely pathogenic

Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002307035

NM_153717.3(EVC):c.636T>A (p.Cys212Ter)

SNV
Unknown

Chr4:5733369

Likely pathogenic

Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002307157

NM_147127.5(EVC2):c.2005C>T (p.Gln669Ter)

SNV
Unknown

Chr4:5625790

Likely pathogenic

Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002307278

NM_147127.5(EVC2):c.2851G>T (p.Glu951Ter)

SNV
Unknown

Chr4:5584829

Likely pathogenic

Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002310089

NM_153717.3(EVC):c.1290G>A (p.Trp430Ter)

SNV
Unknown

Chr4:5753027

Likely pathogenic

Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002310181

NM_147127.5(EVC2):c.1012C>T (p.Gln338Ter)

SNV
Unknown

Chr4:5663240

Likely pathogenic

Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002310500

NM_153717.3(EVC):c.91G>A (p.Ala31Thr)

SNV
Germline

Chr4:5711471

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Curry-Hall syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003041207 RCV003062640

NM_147127.5(EVC2):c.3102G>T (p.Gln1034His)

SNV
Germline

Chr4:5576410

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Curry-Hall syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003087481 RCV004071911

NM_153717.3(EVC):c.2029C>T (p.Gln677Ter)

SNV
Germline

Chr4:5797164

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003090305

NM_153717.3(EVC):c.2079G>A (p.Trp693Ter)

SNV
Germline

Chr4:5797214

Pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002598826

NM_153717.3(EVC):c.154C>T (p.Arg52Cys)

SNV
Germline

Chr4:5711534

Conflicting classifications of pathogenicity

Inborn genetic diseases
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002637792 RCV002637793

NM_147127.5(EVC2):c.2365G>T (p.Glu789Ter)

SNV
Germline

Chr4:5622673

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002664334

NM_153717.3(EVC):c.1098+1G>A

SNV
Germline

Chr4:5748307

Likely pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002651800

NM_153717.3(EVC):c.2783-3C>A

SNV
Germline

Chr4:5810336

Conflicting classifications of pathogenicity

Curry-Hall syndrome
Ellis-van Creveld syndrome
EVC-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002651801 RCV003404136

NM_147127.5(EVC2):c.2680C>T (p.Gln894Ter)

SNV
Germline

Chr4:5618504

Pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002593970

NM_147127.5(EVC2):c.2068C>T (p.Gln690Ter)

SNV
Germline

Chr4:5622970

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002631782

NM_147127.5(EVC2):c.3251T>A (p.Leu1084Ter)

SNV
Germline

Chr4:5576261

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002666750

NM_153717.3(EVC):c.2686C>T (p.Gln896Ter)

SNV
Germline

Chr4:5808325

Pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002775656

NM_153717.3(EVC):c.1099-1G>A

SNV
Germline

Chr4:5752835

Likely pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002838926

NM_153717.3(EVC):c.1099-2A>C

SNV
Germline

Chr4:5752834

Likely pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002830096

NM_147127.5(EVC2):c.450+2T>G

SNV
Germline

Chr4:5694333

Likely pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002885119

NM_153717.3(EVC):c.385-1G>A

SNV
Germline

Chr4:5731424

Likely pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002875515

NM_153717.3(EVC):c.1887-2A>T

SNV
Germline

Chr4:5797020

Likely pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002875563

NM_153717.3(EVC):c.802-2A>G

SNV
Germline

Chr4:5745202

Likely pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002876450

NM_153717.3(EVC):c.1776+2T>C

SNV
Germline

Chr4:5783766

Likely pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002876169

NM_147127.5(EVC2):c.2056C>T (p.Gln686Ter)

SNV
Germline

Chr4:5622982

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002871509

NM_153717.3(EVC):c.2258G>A (p.Arg753Gln)

SNV
Germline

Chr4:5798746

Conflicting classifications of pathogenicity

Inborn genetic diseases
Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002885949 RCV002885950

NM_147127.5(EVC2):c.519+2T>G

SNV
Germline

Chr4:5691263

Pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002908238

NM_153717.3(EVC):c.230C>T (p.Ser77Leu)

SNV
Germline

Chr4:5719303

Conflicting classifications of pathogenicity

Ellis-van Creveld syndrome
Curry-Hall syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002913247 RCV004066116

NM_153717.3(EVC):c.2T>C (p.Met1Thr)

SNV
Germline

Chr4:5711382

Likely pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002954055

NM_147127.5(EVC2):c.2843T>A (p.Leu948Ter)

SNV
Germline

Chr4:5584837

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002934077

NM_147127.5(EVC2):c.1341C>G (p.Tyr447Ter)

SNV
Germline

Chr4:5640643

Pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002971639

NM_147127.5(EVC2):c.2410C>T (p.Gln804Ter)

SNV
Germline

Chr4:5622628

Pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002976184

NM_147127.5(EVC2):c.1791T>G (p.Tyr597Ter)

SNV
Germline

Chr4:5628654

Pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002972228

NM_153717.3(EVC):c.157C>T (p.Gln53Ter)

SNV
Germline

Chr4:5711537

Pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003010421

NM_153717.3(EVC):c.1657G>T (p.Glu553Ter)

SNV
Germline

Chr4:5783645

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003018999

NM_153717.3(EVC):c.2379T>G (p.Tyr793Ter)

SNV
Germline

Chr4:5802024

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003006205

NM_153717.3(EVC):c.617+2T>A

SNV
Germline

Chr4:5731659

Likely pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003038851

NM_147127.5(EVC2):c.2893C>T (p.Gln965Ter)

SNV
Germline

Chr4:5584787

Pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003026355

NM_147127.5(EVC2):c.519+1G>A

SNV
Germline

Chr4:5691264

Pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003029096

NM_153717.3(EVC):c.1084G>T (p.Glu362Ter)

SNV
Germline

Chr4:5748292

Pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003029107

NM_147127.5(EVC2):c.703C>T (p.Gln235Ter)

SNV
Germline

Chr4:5689160

Pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003043403

NM_153717.3(EVC):c.1A>G (p.Met1Val)

SNV
Germline

Chr4:5711381

Likely pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003055156

NM_153717.3(EVC):c.1572C>G (p.Tyr524Ter)

SNV
Germline

Chr4:5783560

Pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003052019

NM_147127.5(EVC2):c.3558-2A>G

SNV
Germline

Chr4:5565361

Likely pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003059631

NM_147127.5(EVC2):c.2989G>T (p.Glu997Ter)

SNV
Germline

Chr4:5584691

Pathogenic

Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003236248

NM_153717.3(EVC):c.801+1G>T

SNV
Germline

Chr4:5741815

Likely pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003322662 RCV003777326 RCV004572927

NM_147127.5(EVC2):c.1987G>T (p.Glu663Ter)

SNV
Germline

Chr4:5625808

Pathogenic

Ellis-van Creveld syndrome

No Assertion Criteria Provided

1 SubmittersRCV003330360

NM_153717.3(EVC):c.618-2A>G

SNV
Germline

Chr4:5733349

Pathogenic

EVC-related disorder
Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003419047 RCV003778311

NM_153717.3(EVC):c.653T>G (p.Leu218Ter)

SNV
Germline

Chr4:5733386

Pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003784600

NM_147127.5(EVC2):c.2698G>T (p.Glu900Ter)

SNV
Germline

Chr4:5618486

Pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003781028

NM_147127.5(EVC2):c.3272+1G>T

SNV
Germline

Chr4:5576239

Likely pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003790103

NM_153717.3(EVC):c.2662G>T (p.Glu888Ter)

SNV
Germline

Chr4:5808301

Pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003795604

NM_147127.5(EVC2):c.2881G>T (p.Gly961Ter)

SNV
Germline

Chr4:5584799

Pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003789311

NM_153717.3(EVC):c.1A>C (p.Met1Leu)

SNV
Germline

Chr4:5711381

Pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003798259

NM_147127.5(EVC2):c.3058-1G>C

SNV
Germline

Chr4:5576455

Likely pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003792070

NM_147127.5(EVC2):c.2501+1G>T

SNV
Germline

Chr4:5622536

Likely pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003794670

NM_147127.5(EVC2):c.1470+2T>C

SNV
Germline

Chr4:5640512

Likely pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003807937

NM_147127.5(EVC2):c.2380G>T (p.Glu794Ter)

SNV
Germline

Chr4:5622658

Pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003808108

NM_153717.3(EVC):c.1777-2A>C

SNV
Germline

Chr4:5793606

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003806451

NM_147127.5(EVC2):c.3734C>A (p.Ser1245Ter)

SNV
Germline

Chr4:5563041

Pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003806960

NM_147127.5(EVC2):c.2533G>T (p.Glu845Ter)

SNV
Germline

Chr4:5618651

Pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003791042

NM_147127.5(EVC2):c.1519C>T (p.Gln507Ter)

SNV
Germline

Chr4:5631984

Pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003805456

NM_153717.3(EVC):c.801+2T>C

SNV
Germline

Chr4:5741816

Likely pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003805954

NM_147127.5(EVC2):c.2632C>T (p.Gln878Ter)

SNV
Germline

Chr4:5618552

Pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003805997

NM_147127.5(EVC2):c.557G>A (p.Trp186Ter)

SNV
Germline

Chr4:5689306

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003803905

NM_153717.3(EVC):c.2382C>A (p.Tyr794Ter)

SNV
Germline

Chr4:5802027

Pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003798870

NM_153717.3(EVC):c.2688+2T>G

SNV
Germline

Chr4:5808329

Likely pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003799137

NM_147127.5(EVC2):c.817-1G>T

SNV
Germline

Chr4:5681314

Likely pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003802900

NM_147127.5(EVC2):c.2829+2T>C

SNV
Germline

Chr4:5615420

Likely pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003803222

NM_147127.5(EVC2):c.2707-1G>A

SNV
Germline

Chr4:5615545

Likely pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003803359

NM_153717.3(EVC):c.248C>G (p.Ser83Ter)

SNV
Germline

Chr4:5719321

Pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003808564

NM_153717.3(EVC):c.2167C>T (p.Gln723Ter)

SNV
Germline

Chr4:5798655

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003809074

NM_147127.5(EVC2):c.1005+1G>A

SNV
Germline

Chr4:5665514

Likely pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003807153

NM_147127.5(EVC2):c.1132C>T (p.Gln378Ter)

SNV
Germline

Chr4:5663120

Pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003809356

NM_153717.3(EVC):c.300+1G>T

SNV
Germline

Chr4:5719374

Likely pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003804575

NM_147127.5(EVC2):c.520-2A>T

SNV
Germline

Chr4:5689345

Likely pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003804614

NM_153717.3(EVC):c.958C>T (p.Gln320Ter)

SNV
Germline

Chr4:5748166

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003813527

NM_153717.3(EVC):c.2449+2T>C

SNV
Germline

Chr4:5802096

Likely pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003815726

NM_147127.5(EVC2):c.2041C>T (p.Gln681Ter)

SNV
Germline

Chr4:5625754

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003810072

NM_153717.3(EVC):c.2097+1G>A

SNV
Germline

Chr4:5797233

Likely pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003813319

NM_147127.5(EVC2):c.1146-2A>T

SNV
Germline

Chr4:5640840

Likely pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003813321

NM_147127.5(EVC2):c.790C>T (p.Gln264Ter)

SNV
Germline

Chr4:5685396

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003812840

NM_153717.3(EVC):c.613G>T (p.Glu205Ter)

SNV
Germline

Chr4:5731653

Pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003812849

NM_147127.5(EVC2):c.450+1G>C

SNV
Germline

Chr4:5694334

Likely pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003812861

NM_147127.5(EVC2):c.3058-1G>T

SNV
Germline

Chr4:5576455

Likely pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003812978

NM_147127.5(EVC2):c.2829+2T>G

SNV
Germline

Chr4:5615420

Likely pathogenic

Ellis-van Creveld syndrome
Curry-Hall syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003807251

NM_153717.3(EVC):c.1462G>T (p.Glu488Ter)

SNV
Germline

Chr4:5753931

Pathogenic

Curry-Hall syndrome
Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003818126

NM_153717.3(EVC):c.1363C>T (p.Gln455Ter)

SNV
Germline

Chr4:5753832

Likely pathogenic

Ellis-van Creveld syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003990160