ClinVar for MedGen (Select 141594) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 1 to 100 of 2207

<< First< Prev

Page of 23

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25765471.	NM_153717.3(EVC):c.801+1G>T GRCh37: Chr4:5743542 GRCh38: Chr4:5741815	EVC		Curry-Hall syndrome	Likely pathogenic (Jul 3, 2023)	criteria provided, single submitter
Select item 24281742.	NM_153717.3(EVC):c.1232G>A (p.Gly411Glu) GRCh37: Chr4:5754696 GRCh38: Chr4:5752969	EVC	G411E	Ellis-van Creveld syndrome, Curry-Hall syndrome	Uncertain significance (Jun 2, 2022)	criteria provided, single submitter
Select item 24277443.	NM_153717.3(EVC):c.120C>G (p.Leu40=) GRCh37: Chr4:5713227 GRCh38: Chr4:5711500	EVC		Ellis-van Creveld syndrome, Curry-Hall syndrome	Likely benign (Sep 30, 2022)	criteria provided, single submitter
Select item 24274484.	NC_000004.11:g.(?_5710003)_(5750043_?)del GRCh37: Chr4:5710003-5750043	EVC2, EVC		Ellis-van Creveld syndrome, Curry-Hall syndrome	Pathogenic (Aug 9, 2022)	criteria provided, single submitter
Select item 24274475.	NC_000004.11:g.(?_5713108)_(5714221_?)del GRCh37: Chr4:5713108-5714221	EVC		Ellis-van Creveld syndrome, Curry-Hall syndrome	Likely pathogenic (Feb 28, 2022)	criteria provided, single submitter
Select item 24274466.	NC_000004.11:g.(?_5754553)_(5785501_?)del GRCh37: Chr4:5754553-5785501	EVC		Ellis-van Creveld syndrome, Curry-Hall syndrome	Pathogenic (Mar 1, 2022)	criteria provided, single submitter
Select item 24274457.	NC_000004.11:g.(?_5754553)_(5758099_?)del GRCh37: Chr4:5754553-5758099	EVC		Ellis-van Creveld syndrome, Curry-Hall syndrome	Pathogenic (May 3, 2022)	criteria provided, single submitter
Select item 24274448.	NC_000004.11:g.(?_5785269)_(5812774_?)del GRCh37: Chr4:5785269-5812774	EVC		Ellis-van Creveld syndrome, Curry-Hall syndrome	Pathogenic (Apr 12, 2022)	criteria provided, single submitter
Select item 24273489.	NC_000004.11:g.(?_5630335)_(5635926_?)del GRCh37: Chr4:5630335-5635926	EVC2		Ellis-van Creveld syndrome, Curry-Hall syndrome	Likely pathogenic (Aug 9, 2022)	criteria provided, single submitter
Select item 242734710.	NC_000004.11:g.(?_5690874)_(5696238_?)del GRCh37: Chr4:5690874-5696238	EVC2		Ellis-van Creveld syndrome, Curry-Hall syndrome	Pathogenic (Dec 25, 2021)	criteria provided, single submitter
Select item 242734611.	NC_000004.11:g.(?_5564565)_(5578191_?)del GRCh37: Chr4:5564565-5578191	EVC2		Ellis-van Creveld syndrome, Curry-Hall syndrome	Pathogenic (Jan 18, 2022)	criteria provided, single submitter
Select item 242734512.	NC_000004.11:g.(?_5617139)_(5812774_?)del GRCh37: Chr4:5617139-5812774	EVC, EVC2		Ellis-van Creveld syndrome, Curry-Hall syndrome	Pathogenic (Aug 15, 2021)	criteria provided, single submitter
Select item 242734413.	NC_000004.11:g.(?_5576402)_(5576509_?)del GRCh37: Chr4:5576402-5576509	EVC2		Ellis-van Creveld syndrome, Curry-Hall syndrome	Pathogenic (Dec 17, 2021)	criteria provided, single submitter
Select item 242208214.	NM_147127.5(EVC2):c.1145+2del GRCh37: Chr4:5664832 GRCh38: Chr4:5663105	EVC2		Ellis-van Creveld syndrome, Curry-Hall syndrome	Likely pathogenic (Oct 7, 2022)	criteria provided, single submitter
Select item 242081915.	NM_153717.3(EVC):c.2043G>A (p.Glu681=) GRCh37: Chr4:5798905 GRCh38: Chr4:5797178	EVC		Ellis-van Creveld syndrome, Curry-Hall syndrome	Likely benign (Feb 28, 2022)	criteria provided, single submitter
Select item 241975616.	NM_147127.5(EVC2):c.3835A>G (p.Lys1279Glu) GRCh37: Chr4:5564667 GRCh38: Chr4:5562940	EVC2	K1199E, K1279E	Ellis-van Creveld syndrome, Curry-Hall syndrome	Uncertain significance (Sep 16, 2022)	criteria provided, single submitter
Select item 241961717.	NM_147127.5(EVC2):c.1811C>T (p.Ser604Leu) GRCh37: Chr4:5630361 GRCh38: Chr4:5628634	EVC2	S524L, S604L	Ellis-van Creveld syndrome, Curry-Hall syndrome	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 241957318.	NM_147127.5(EVC2):c.2707-15C>T GRCh37: Chr4:5617286 GRCh38: Chr4:5615559	EVC2		Ellis-van Creveld syndrome, Curry-Hall syndrome	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 241936319.	NM_153717.3(EVC):c.1327C>A (p.Arg443=) GRCh37: Chr4:5755523 GRCh38: Chr4:5753796	EVC		Ellis-van Creveld syndrome, Curry-Hall syndrome	Likely benign (May 8, 2022)	criteria provided, single submitter
Select item 241907620.	NM_147127.5(EVC2):c.2467G>A (p.Ala823Thr) GRCh37: Chr4:5624298 GRCh38: Chr4:5622571	EVC2	A743T, A823T	Ellis-van Creveld syndrome, Curry-Hall syndrome	Uncertain significance (Oct 29, 2022)	criteria provided, single submitter
Select item 241868921.	NM_153717.3(EVC):c.651C>T (p.His217=) GRCh37: Chr4:5735111 GRCh38: Chr4:5733384	EVC		Ellis-van Creveld syndrome, Curry-Hall syndrome	Likely benign (Aug 27, 2022)	criteria provided, single submitter
Select item 241789922.	NM_153717.3(EVC):c.1626G>A (p.Thr542=) GRCh37: Chr4:5785341 GRCh38: Chr4:5783614	EVC		Ellis-van Creveld syndrome, Curry-Hall syndrome	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 241769323.	NM_153717.3(EVC):c.617+19G>A GRCh37: Chr4:5733403 GRCh38: Chr4:5731676	EVC		Ellis-van Creveld syndrome, Curry-Hall syndrome	Likely benign (Jan 28, 2022)	criteria provided, single submitter
Select item 241602624.	NM_147127.5(EVC2):c.2944_2945del (p.Leu982fs) GRCh37: Chr4:5586462-5586463 GRCh38: Chr4:5584735-5584736	EVC2	L902fs, L982fs	Ellis-van Creveld syndrome, Curry-Hall syndrome	Pathogenic (Aug 4, 2022)	criteria provided, single submitter
Select item 241510125.	NM_147127.5(EVC2):c.1935T>G (p.Ala645=) GRCh37: Chr4:5627587 GRCh38: Chr4:5625860	EVC2		Ellis-van Creveld syndrome, Curry-Hall syndrome	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 241387026.	NM_147127.5(EVC2):c.232T>C (p.Leu78=) GRCh37: Chr4:5699371 GRCh38: Chr4:5697644	EVC2		Ellis-van Creveld syndrome, Curry-Hall syndrome	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 241373027.	NM_147127.5(EVC2):c.2058G>A (p.Gln686=) GRCh37: Chr4:5624707 GRCh38: Chr4:5622980	EVC2		Ellis-van Creveld syndrome, Curry-Hall syndrome	Likely benign (Mar 9, 2022)	criteria provided, single submitter
Select item 241356328.	NM_147127.5(EVC2):c.856G>A (p.Glu286Lys) GRCh37: Chr4:5683001 GRCh38: Chr4:5681274	EVC2	E206K, E286K	Ellis-van Creveld syndrome, Curry-Hall syndrome	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 220351229.	NM_153717.3(EVC):c.2783-3C>A GRCh37: Chr4:5812063 GRCh38: Chr4:5810336	EVC		Ellis-van Creveld syndrome, Curry-Hall syndrome	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 220351130.	NM_153717.3(EVC):c.1098+1G>A GRCh37: Chr4:5750034 GRCh38: Chr4:5748307	EVC		Ellis-van Creveld syndrome, Curry-Hall syndrome	Likely pathogenic (Apr 2, 2022)	criteria provided, single submitter
Select item 220350831.	NM_153717.3(EVC):c.708dup (p.Ile237fs) GRCh37: Chr4:5743445-5743446 GRCh38: Chr4:5741718-5741719	EVC	I237fs	Ellis-van Creveld syndrome, Curry-Hall syndrome	Pathogenic (Aug 22, 2022)	criteria provided, single submitter
Select item 220350732.	NM_153717.3(EVC):c.186_187del (p.Gln63fs) GRCh37: Chr4:5720985-5720986 GRCh38: Chr4:5719258-5719259	EVC	Q63fs	Ellis-van Creveld syndrome, Curry-Hall syndrome	Pathogenic (Mar 15, 2022)	criteria provided, single submitter
Select item 220350633.	NM_147127.5(EVC2):c.2365G>T (p.Glu789Ter) GRCh37: Chr4:5624400 GRCh38: Chr4:5622673	EVC2	E789, E709	Ellis-van Creveld syndrome, Curry-Hall syndrome	Pathogenic (Feb 21, 2022)	criteria provided, single submitter
Select item 220315434.	NM_153717.3(EVC):c.1894C>T (p.Arg632Trp) GRCh37: Chr4:5798756 GRCh38: Chr4:5797029	EVC	R632W	Ellis-van Creveld syndrome, Curry-Hall syndrome	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 220247335.	NM_147127.5(EVC2):c.2356G>T (p.Ala786Ser) GRCh37: Chr4:5624409 GRCh38: Chr4:5622682	EVC2	A706S, A786S	Ellis-van Creveld syndrome, Curry-Hall syndrome	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 220216036.	NM_147127.5(EVC2):c.1825G>A (p.Val609Met) GRCh37: Chr4:5630347 GRCh38: Chr4:5628620	EVC2	V529M, V609M	Ellis-van Creveld syndrome, Curry-Hall syndrome	Uncertain significance (Jul 28, 2022)	criteria provided, single submitter
Select item 220194437.	NM_147127.5(EVC2):c.1089A>G (p.Gln363=) GRCh37: Chr4:5664890 GRCh38: Chr4:5663163	EVC2		Curry-Hall syndrome, Ellis-van Creveld syndrome	Uncertain significance (May 31, 2021)	criteria provided, single submitter
Select item 220080738.	NM_147127.5(EVC2):c.1887-16C>T GRCh37: Chr4:5627651 GRCh38: Chr4:5625924	EVC2		Ellis-van Creveld syndrome, Curry-Hall syndrome	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 220076839.	NM_147127.5(EVC2):c.3553C>T (p.Arg1185Trp) GRCh37: Chr4:5570175 GRCh38: Chr4:5568448	EVC2	R1185W, R1105W	Ellis-van Creveld syndrome, Curry-Hall syndrome	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 220020540.	NM_153717.3(EVC):c.1939C>T (p.Arg647Trp) GRCh37: Chr4:5798801 GRCh38: Chr4:5797074	EVC	R647W	Ellis-van Creveld syndrome, Curry-Hall syndrome	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 220016641.	NM_147127.5(EVC2):c.646G>A (p.Asp216Asn) GRCh37: Chr4:5690944 GRCh38: Chr4:5689217	EVC2	D216N, D136N	Ellis-van Creveld syndrome, Curry-Hall syndrome	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 220013042.	NM_147127.5(EVC2):c.2686G>A (p.Val896Met) GRCh37: Chr4:5620225 GRCh38: Chr4:5618498	EVC2	V896M, V816M	Ellis-van Creveld syndrome, Curry-Hall syndrome	Uncertain significance (Oct 1, 2022)	criteria provided, single submitter
Select item 220009443.	NM_147127.5(EVC2):c.3846G>T (p.Glu1282Asp) GRCh37: Chr4:5564656 GRCh38: Chr4:5562929	EVC2	E1202D, E1282D	Ellis-van Creveld syndrome, Curry-Hall syndrome	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 220006744.	NM_153717.3(EVC):c.1777-9C>G GRCh37: Chr4:5795326 GRCh38: Chr4:5793599	EVC		Ellis-van Creveld syndrome, Curry-Hall syndrome	Likely benign (Jul 4, 2022)	criteria provided, single submitter
Select item 219977645.	NM_153717.3(EVC):c.2617C>T (p.Arg873Cys) GRCh37: Chr4:5809983 GRCh38: Chr4:5808256	EVC	R873C	Ellis-van Creveld syndrome, Curry-Hall syndrome	Uncertain significance (Sep 28, 2022)	criteria provided, single submitter
Select item 219966946.	NM_147127.5(EVC2):c.2731C>T (p.Arg911Trp) GRCh37: Chr4:5617247 GRCh38: Chr4:5615520	EVC2	R831W, R911W	Ellis-van Creveld syndrome, Curry-Hall syndrome	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 219946947.	NM_153717.3(EVC):c.1844C>A (p.Thr615Asn) GRCh37: Chr4:5795402 GRCh38: Chr4:5793675	EVC	T615N	Ellis-van Creveld syndrome, Curry-Hall syndrome	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 219944648.	NM_147127.5(EVC2):c.1006-5T>C GRCh37: Chr4:5664978 GRCh38: Chr4:5663251	EVC2		Ellis-van Creveld syndrome, Curry-Hall syndrome	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 219898549.	NM_153717.3(EVC):c.2497A>G (p.Asn833Asp) GRCh37: Chr4:5806504 GRCh38: Chr4:5804777	EVC	N833D	Ellis-van Creveld syndrome, Curry-Hall syndrome	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 219802750.	NM_147127.5(EVC2):c.3730C>T (p.Leu1244=) GRCh37: Chr4:5564772 GRCh38: Chr4:5563045	EVC2		Ellis-van Creveld syndrome, Curry-Hall syndrome	Likely benign (Jul 7, 2022)	criteria provided, single submitter
Select item 219755951.	NM_153717.3(EVC):c.154C>T (p.Arg52Cys) GRCh37: Chr4:5713261 GRCh38: Chr4:5711534	EVC	R52C	Inborn genetic diseases, Ellis-van Creveld syndrome, Curry-Hall syndrome	Conflicting interpretations of pathogenicity (Oct 2, 2022)	criteria provided, conflicting interpretations
Select item 219739752.	NM_147127.5(EVC2):c.3531G>C (p.Ala1177=) GRCh37: Chr4:5570197 GRCh38: Chr4:5568470	EVC2		Ellis-van Creveld syndrome, Curry-Hall syndrome	Likely benign (Jun 28, 2022)	criteria provided, single submitter
Select item 219673153.	NM_147127.5(EVC2):c.3772G>T (p.Val1258Leu) GRCh37: Chr4:5564730 GRCh38: Chr4:5563003	EVC2	V1178L, V1258L	Ellis-van Creveld syndrome, Curry-Hall syndrome	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 219654554.	NM_153717.3(EVC):c.1777-13G>C GRCh37: Chr4:5795322 GRCh38: Chr4:5793595	EVC		Ellis-van Creveld syndrome, Curry-Hall syndrome	Likely benign (May 28, 2022)	criteria provided, single submitter
Select item 219604755.	NM_147127.5(EVC2):c.436A>G (p.Ile146Val) GRCh37: Chr4:5696076 GRCh38: Chr4:5694349	EVC2	I66V, I146V	Ellis-van Creveld syndrome, Curry-Hall syndrome	Uncertain significance (Sep 21, 2022)	criteria provided, single submitter
Select item 219576456.	NM_153717.3(EVC):c.1520A>G (p.Glu507Gly) GRCh37: Chr4:5758046 GRCh38: Chr4:5756319	EVC	E507G	Curry-Hall syndrome, Ellis-van Creveld syndrome	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 219514057.	NM_147127.5(EVC2):c.1634T>C (p.Ile545Thr) GRCh37: Chr4:5633596 GRCh38: Chr4:5631869	EVC2	I465T, I545T	Curry-Hall syndrome, Ellis-van Creveld syndrome	Uncertain significance (Mar 31, 2022)	criteria provided, single submitter
Select item 219441058.	NM_153717.3(EVC):c.2105G>A (p.Arg702His) GRCh37: Chr4:5800320 GRCh38: Chr4:5798593	EVC	R702H	Curry-Hall syndrome, Ellis-van Creveld syndrome	Uncertain significance (Mar 31, 2022)	criteria provided, single submitter
Select item 219433959.	NM_153717.3(EVC):c.2240C>T (p.Ala747Val) GRCh37: Chr4:5800455 GRCh38: Chr4:5798728	EVC	A747V	Curry-Hall syndrome, Ellis-van Creveld syndrome	Uncertain significance (Oct 20, 2022)	criteria provided, single submitter
Select item 219411460.	NM_147127.5(EVC2):c.80G>C (p.Gly27Ala) GRCh37: Chr4:5710161 GRCh38: Chr4:5708434	EVC2	G27A	Curry-Hall syndrome, Ellis-van Creveld syndrome	Uncertain significance (Apr 17, 2022)	criteria provided, single submitter
Select item 219403361.	NM_153717.3(EVC):c.2525G>A (p.Gly842Asp) GRCh37: Chr4:5806532 GRCh38: Chr4:5804805	EVC	G842D	Curry-Hall syndrome, Ellis-van Creveld syndrome, Inborn genetic diseases	Uncertain significance (Nov 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219378962.	NM_153717.3(EVC):c.678G>A (p.Thr226=) GRCh37: Chr4:5735138 GRCh38: Chr4:5733411	EVC		Ellis-van Creveld syndrome, Curry-Hall syndrome	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 219368763.	NM_147127.5(EVC2):c.2377G>C (p.Gly793Arg) GRCh37: Chr4:5624388 GRCh38: Chr4:5622661	EVC2	G793R, G713R	Ellis-van Creveld syndrome, Curry-Hall syndrome	Uncertain significance (Jan 12, 2022)	criteria provided, single submitter
Select item 219354864.	NM_153717.3(EVC):c.2368G>A (p.Val790Met) GRCh37: Chr4:5803740 GRCh38: Chr4:5802013	EVC	V790M	not provided, Ellis-van Creveld syndrome, Curry-Hall syndrome	Uncertain significance (Aug 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219348665.	NM_153717.3(EVC):c.219G>T (p.Ala73=) GRCh37: Chr4:5721019 GRCh38: Chr4:5719292	EVC		Curry-Hall syndrome, Ellis-van Creveld syndrome	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 219253466.	NM_153717.3(EVC):c.1304G>A (p.Arg435His) GRCh37: Chr4:5754768 GRCh38: Chr4:5753041	EVC	R435H	Ellis-van Creveld syndrome, Curry-Hall syndrome	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 219231367.	NM_153717.3(EVC):c.456G>T (p.Pro152=) GRCh37: Chr4:5733223 GRCh38: Chr4:5731496	EVC		Curry-Hall syndrome, Ellis-van Creveld syndrome	Likely benign (Feb 9, 2022)	criteria provided, single submitter
Select item 219185568.	NM_153717.3(EVC):c.2346C>T (p.Thr782=) GRCh37: Chr4:5803718 GRCh38: Chr4:5801991	EVC		Curry-Hall syndrome, Ellis-van Creveld syndrome	Likely benign (Dec 24, 2021)	criteria provided, single submitter
Select item 219142269.	NM_147127.5(EVC2):c.1159A>G (p.Thr387Ala) GRCh37: Chr4:5642552 GRCh38: Chr4:5640825	EVC2, LOC126806961	T307A, T387A	Curry-Hall syndrome, Ellis-van Creveld syndrome	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 219010370.	NM_147127.5(EVC2):c.2706G>C (p.Gln902His) GRCh37: Chr4:5620205 GRCh38: Chr4:5618478	EVC2	Q822H, Q902H	Curry-Hall syndrome, Ellis-van Creveld syndrome	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 218961371.	NM_153717.3(EVC):c.300+17T>G GRCh37: Chr4:5721117 GRCh38: Chr4:5719390	EVC		Curry-Hall syndrome, Ellis-van Creveld syndrome	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 218778472.	NM_147127.5(EVC2):c.445C>T (p.Arg149Cys) GRCh37: Chr4:5696067 GRCh38: Chr4:5694340	EVC2	R149C, R69C	Curry-Hall syndrome, Ellis-van Creveld syndrome	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 218690073.	NM_153717.3(EVC):c.528del (p.Ser177fs) GRCh37: Chr4:5733294 GRCh38: Chr4:5731567	EVC	S177fs	Curry-Hall syndrome, Ellis-van Creveld syndrome	Pathogenic (Aug 4, 2022)	criteria provided, single submitter
Select item 218666374.	NM_153717.3(EVC):c.823G>A (p.Gly275Arg) GRCh37: Chr4:5746952 GRCh38: Chr4:5745225	EVC	G275R	Curry-Hall syndrome, Ellis-van Creveld syndrome	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 218612275.	NM_147127.5(EVC2):c.1888G>A (p.Ala630Thr) GRCh37: Chr4:5627634 GRCh38: Chr4:5625907	EVC2	A630T, A550T	Curry-Hall syndrome, Ellis-van Creveld syndrome	Uncertain significance (Nov 2, 2022)	criteria provided, single submitter
Select item 218458976.	NM_147127.5(EVC2):c.1616G>T (p.Ser539Ile) GRCh37: Chr4:5633614 GRCh38: Chr4:5631887	EVC2	S459I, S539I	Curry-Hall syndrome, Ellis-van Creveld syndrome	Uncertain significance (Jan 2, 2022)	criteria provided, single submitter
Select item 218406677.	NM_153717.3(EVC):c.698A>C (p.His233Pro) GRCh37: Chr4:5735158 GRCh38: Chr4:5733431	EVC	H233P	Curry-Hall syndrome, Ellis-van Creveld syndrome, Inborn genetic diseases	Uncertain significance (Aug 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 218367778.	NM_147127.5(EVC2):c.707-10C>T GRCh37: Chr4:5687216 GRCh38: Chr4:5685489	EVC2		Ellis-van Creveld syndrome, Curry-Hall syndrome	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 218163279.	NM_147127.5(EVC2):c.2501+20G>C GRCh37: Chr4:5624244 GRCh38: Chr4:5622517	EVC2		Ellis-van Creveld syndrome, Curry-Hall syndrome	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 218051780.	NM_147127.5(EVC2):c.760G>A (p.Gly254Arg) GRCh37: Chr4:5687153 GRCh38: Chr4:5685426	EVC2	G254R, G174R	Ellis-van Creveld syndrome, Curry-Hall syndrome	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 217987381.	NM_153717.3(EVC):c.2304+10G>C GRCh37: Chr4:5800529 GRCh38: Chr4:5798802	EVC		Ellis-van Creveld syndrome, Curry-Hall syndrome	Likely benign (Apr 24, 2022)	criteria provided, single submitter
Select item 217955282.	NM_147127.5(EVC2):c.3810G>A (p.Glu1270=) GRCh37: Chr4:5564692 GRCh38: Chr4:5562965	EVC2		Curry-Hall syndrome, Ellis-van Creveld syndrome	Likely benign (Feb 27, 2022)	criteria provided, single submitter
Select item 217906883.	NM_153717.3(EVC):c.940-14T>C GRCh37: Chr4:5749861 GRCh38: Chr4:5748134	EVC		Ellis-van Creveld syndrome, Curry-Hall syndrome	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 217887784.	NM_153717.3(EVC):c.225C>G (p.Thr75=) GRCh37: Chr4:5721025 GRCh38: Chr4:5719298	EVC		Curry-Hall syndrome, Ellis-van Creveld syndrome	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 217883085.	NM_153717.3(EVC):c.700A>G (p.Met234Val) GRCh37: Chr4:5735160 GRCh38: Chr4:5733433	EVC	M234V	Ellis-van Creveld syndrome, Curry-Hall syndrome	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 217826386.	NM_147127.5(EVC2):c.3544G>C (p.Val1182Leu) GRCh37: Chr4:5570184 GRCh38: Chr4:5568457	EVC2	V1102L, V1182L	Ellis-van Creveld syndrome, Curry-Hall syndrome	Uncertain significance (Sep 12, 2022)	criteria provided, single submitter
Select item 217716087.	NM_147127.5(EVC2):c.2046+10G>A GRCh37: Chr4:5627466 GRCh38: Chr4:5625739	EVC2		Ellis-van Creveld syndrome, Curry-Hall syndrome	Likely benign (Apr 10, 2022)	criteria provided, single submitter
Select item 217552388.	NM_147127.5(EVC2):c.2986C>T (p.Leu996=) GRCh37: Chr4:5586421 GRCh38: Chr4:5584694	EVC2		Ellis-van Creveld syndrome, Curry-Hall syndrome	Likely benign (Apr 10, 2022)	criteria provided, single submitter
Select item 217431789.	NM_147127.5(EVC2):c.3135G>A (p.Ala1045=) GRCh37: Chr4:5578104 GRCh38: Chr4:5576377	EVC2		Ellis-van Creveld syndrome, Curry-Hall syndrome	Likely benign (Jun 28, 2022)	criteria provided, single submitter
Select item 217414490.	NM_153717.3(EVC):c.2079G>A (p.Trp693Ter) GRCh37: Chr4:5798941 GRCh38: Chr4:5797214	EVC	W693*	Ellis-van Creveld syndrome, Curry-Hall syndrome	Pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 217210991.	NM_147127.5(EVC2):c.2187C>T (p.Asp729=) GRCh37: Chr4:5624578 GRCh38: Chr4:5622851	EVC2		Ellis-van Creveld syndrome, Curry-Hall syndrome	Likely benign (Jul 4, 2022)	criteria provided, single submitter
Select item 217176092.	NM_147127.5(EVC2):c.1514T>C (p.Leu505Pro) GRCh37: Chr4:5633716 GRCh38: Chr4:5631989	EVC2	L505P, L425P	Curry-Hall syndrome, Ellis-van Creveld syndrome	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 217144793.	NM_153717.3(EVC):c.2859C>A (p.Asp953Glu) GRCh37: Chr4:5812142 GRCh38: Chr4:5810415	EVC	D953E	Curry-Hall syndrome, Ellis-van Creveld syndrome	Uncertain significance (Jul 7, 2022)	criteria provided, single submitter
Select item 216852694.	NM_147127.5(EVC2):c.198G>T (p.Arg66=) GRCh37: Chr4:5710043 GRCh38: Chr4:5708316	EVC2		Ellis-van Creveld syndrome, Curry-Hall syndrome	Likely benign (Apr 5, 2022)	criteria provided, single submitter
Select item 216829795.	NM_153717.3(EVC):c.2894+18_2894+19delinsGA GRCh37: Chr4:5812195-5812196 GRCh38: Chr4:5810468-5810469	EVC		Ellis-van Creveld syndrome, Curry-Hall syndrome	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 216814796.	NM_147127.5(EVC2):c.993C>T (p.Leu331=) GRCh37: Chr4:5667254 GRCh38: Chr4:5665527	EVC2, LOC126806962		Ellis-van Creveld syndrome, Curry-Hall syndrome	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 216732097.	NM_153717.3(EVC):c.175-20T>C GRCh37: Chr4:5720955 GRCh38: Chr4:5719228	EVC		Ellis-van Creveld syndrome, Curry-Hall syndrome	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 216729398.	NM_147127.5(EVC2):c.1319A>T (p.Glu440Val) GRCh37: Chr4:5642392 GRCh38: Chr4:5640665	EVC2, LOC126806961	E360V, E440V	Curry-Hall syndrome, Ellis-van Creveld syndrome	Uncertain significance (Apr 9, 2022)	criteria provided, single submitter
Select item 216711199.	NM_147127.5(EVC2):c.2493G>T (p.Leu831=) GRCh37: Chr4:5624272 GRCh38: Chr4:5622545	EVC2		Ellis-van Creveld syndrome, Curry-Hall syndrome	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 2167055100.	NM_153717.3(EVC):c.1098+20G>C GRCh37: Chr4:5750053 GRCh38: Chr4:5748326	EVC		Ellis-van Creveld syndrome, Curry-Hall syndrome	Likely benign (Sep 1, 2022)	criteria provided, single submitter

<< First< Prev

Page of 23