ClinVar for MedGen (Select 141594) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246643	NC_000004.11:g.(?_5754598)_(5758602_?)del	EVC	Deletion	Ellis-van Creveld syndrome +1 more	GLikely pathogenic
Select item 3246642	NC_000004.11:g.(?_5803694)_(5804872_?)del	EVC	Deletion	Ellis-van Creveld syndrome +1 more	GLikely pathogenic
Select item 3246641	NC_000004.11:g.(?_5746911)_(5758109_?)del	EVC	Deletion	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 3246639	NC_000004.11:g.(?_5733132)_(5735182_?)del	EVC	Deletion	Ellis-van Creveld syndrome +1 more	GLikely pathogenic
Select item 3246638	NC_000004.11:g.(?_5731014)_(5758109_?)del	EVC	Deletion	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 3246637	NC_000004.11:g.(?_5710003)_(5735172_?)del	EVC, EVC2	Deletion	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 3246636	NC_000004.11:g.(?_5682967)_(5721120_?)del	EVC, EVC2	Deletion	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 3246635	NC_000004.11:g.(?_5564575)_(5758109_?)del	EVC, EVC2	Deletion	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 3246634	NC_000004.11:g.(?_5458281)_(5586509_?)del	EVC2, LINC01587 +1 more	Deletion	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 3246633	NC_000004.11:g.(?_5612949)_(5633604_?)del	EVC2	Deletion	Ellis-van Creveld syndrome +1 more	GLikely pathogenic
Select item 3246632	NC_000004.11:g.(?_5630338)_(5635928_?)del	EVC2	Deletion	Ellis-van Creveld syndrome +1 more	GLikely pathogenic
Select item 3246631	NC_000004.11:g.(?_5564575)_(5735182_?)dup	EVC, EVC2	Duplication	Ellis-van Creveld syndrome +1 more	GUncertain significance
Select item 3246630	NC_000004.11:g.(?_5564575)_(5570387_?)del	EVC2	Deletion	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 3246628	NC_000004.11:g.(?_5620185)_(5699394_?)del	EVC2	Deletion	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 3246627	NC_000004.11:g.(?_5577947)_(5586597_?)del	EVC2	Deletion	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 3246626	NC_000004.11:g.(?_5617129)_(5627655_?)del	EVC2	Deletion	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 3246625	NC_000004.11:g.(?_5620185)_(5642585_?)del	EVC2	Deletion	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 3246624	NC_000004.11:g.(?_5699300)_(5758109_?)del	EVC, EVC2	Deletion	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 3246623	NC_000004.11:g.(?_5682967)_(5683060_?)del	EVC2	Deletion	Ellis-van Creveld syndrome +1 more	GUncertain significance
Select item 3246622	NC_000004.11:g.(?_5617129)_(5617291_?)del	EVC2	Deletion	Ellis-van Creveld syndrome +1 more	GUncertain significance
Select item 3246621	NC_000004.11:g.(?_5624244)_(5624738_?)del	EVC2	Deletion	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 3246620	NC_000004.11:g.(?_5709993)_(5710240_?)del	EVC2	Deletion	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 2954541	NM_147127.5(EVC2):c.466A>C (p.Arg156=)	EVC2	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2954527	NM_153717.3(EVC):c.2449+2T>C	EVC	Single nucleotide variant (splice donor variant)	Curry-Hall syndrome +1 more	GLikely pathogenic
Select item 2954339	NM_147127.5(EVC2):c.3642C>G (p.Ala1214=)	EVC2	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2954304	NM_153717.3(EVC):c.958C>T (p.Gln320Ter)	EVC (Q320*)	Single nucleotide variant (nonsense)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2954255	NM_147127.5(EVC2):c.1082_1095del (p.Asn361fs)	EVC2 (N361fs +1 more)	Deletion (frameshift variant)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2954197	NM_147127.5(EVC2):c.2707-7_2707-6insA	EVC2	Insertion (intron variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2954196	NM_147127.5(EVC2):c.2619C>G (p.Ala873=)	EVC2	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2954123	NM_147127.5(EVC2):c.1588_1591del (p.Ala530fs)	EVC2 (A530fs +1 more)	Microsatellite (frameshift variant)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2954098	NM_147127.5(EVC2):c.1146-2A>T	EVC2, LOC126806961	Single nucleotide variant (splice acceptor variant)	Curry-Hall syndrome +1 more	GLikely pathogenic
Select item 2954096	NM_153717.3(EVC):c.2097+1G>A	EVC	Single nucleotide variant (splice donor variant)	Curry-Hall syndrome +1 more	GLikely pathogenic
Select item 2954057	NM_153717.3(EVC):c.641dup (p.Tyr214Ter)	EVC (Y214*)	Duplication (nonsense)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2954030	NM_147127.5(EVC2):c.627T>C (p.Ile209=)	EVC2	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2953903	NM_153717.3(EVC):c.2566C>T (p.Leu856=)	EVC	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2953755	NM_147127.5(EVC2):c.3058-1G>T	EVC2	Single nucleotide variant (splice acceptor variant)	Curry-Hall syndrome +1 more	GLikely pathogenic
Select item 2953735	NM_153717.3(EVC):c.1464+12C>A	EVC	Single nucleotide variant (intron variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2953722	NM_147127.5(EVC2):c.816+19T>C	EVC2	Single nucleotide variant (intron variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2953716	NM_153717.3(EVC):c.24C>T (p.Cys8=)	EVC, LOC129992144	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2953708	NM_147127.5(EVC2):c.1887-15A>G	EVC2	Single nucleotide variant (intron variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2953653	NM_147127.5(EVC2):c.3750C>A (p.Gly1250=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2953638	NM_147127.5(EVC2):c.450+1G>C	EVC2	Single nucleotide variant (splice donor variant)	Ellis-van Creveld syndrome +1 more	GLikely pathogenic
Select item 2953626	NM_153717.3(EVC):c.613G>T (p.Glu205Ter)	EVC (E205*)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 2953617	NM_147127.5(EVC2):c.790C>T (p.Gln264Ter)	EVC2 (Q184* +1 more)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 2953593	NM_147127.5(EVC2):c.284-16T>C	EVC2	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2953564	NM_147127.5(EVC2):c.451-17T>C	EVC2	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2953524	NM_147127.5(EVC2):c.3367A>C (p.Arg1123=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2953481	NM_147127.5(EVC2):c.2322G>A (p.Gln774=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2953471	NM_153717.3(EVC):c.2782+15_2782+18dup	EVC	Duplication (intron variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2953388	NM_147127.5(EVC2):c.600C>T (p.Leu200=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2953275	NM_147127.5(EVC2):c.2047-4C>T	EVC2	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2953249	NM_147127.5(EVC2):c.817-15T>G	EVC2	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2953196	NM_147127.5(EVC2):c.2785A>G (p.Ile929Val)	EVC2 (I849V +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +1 more	GUncertain significance
Select item 2953186	NM_147127.5(EVC2):c.616C>T (p.Leu206=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2953171	NM_153717.3(EVC):c.241dup (p.Ser81fs)	EVC (S81fs)	Duplication (frameshift variant)	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 2953094	NM_147127.5(EVC2):c.1152G>A (p.Glu384=)	EVC2, LOC126806961	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2953093	NM_147127.5(EVC2):c.1939_1945del (p.Thr647fs)	EVC2 (T567fs +1 more)	Deletion (frameshift variant)	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 2953054	NM_147127.5(EVC2):c.2501+19C>T	EVC2	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2952992	NM_153717.3(EVC):c.1462G>T (p.Glu488Ter)	EVC (E488*)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 2952988	NM_153717.3(EVC):c.417G>T (p.Leu139=)	EVC	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2952975	NM_147127.5(EVC2):c.3361-18C>T	EVC2	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2952918	NM_147127.5(EVC2):c.1146-11G>A	EVC2, LOC126806961	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2952865	NM_153717.3(EVC):c.1122dup (p.Arg375fs)	EVC (R375fs)	Duplication (frameshift variant)	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 2952821	NM_153717.3(EVC):c.333A>T (p.Thr111=)	EVC	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2952708	NM_153717.3(EVC):c.1564-10T>G	EVC	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2952607	NM_153717.3(EVC):c.195G>T (p.Leu65=)	EVC	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2952536	NM_153717.3(EVC):c.2790C>A (p.Pro930=)	EVC	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2952516	NM_153717.3(EVC):c.2445G>A (p.Leu815=)	EVC	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2952472	NM_147127.5(EVC2):c.2386_2387del (p.Arg796fs)	EVC2 (R796fs +1 more)	Microsatellite (frameshift variant)	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 2952458	NM_147127.5(EVC2):c.1771A>C (p.Arg591=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2952442	NM_147127.5(EVC2):c.492T>C (p.Asn164=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2952439	NM_153717.3(EVC):c.1465-12T>G	EVC	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2952345	NM_147127.5(EVC2):c.1332del (p.Glu445fs)	EVC2, LOC126806961 (E365fs +1 more)	Deletion (frameshift variant)	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 2952340	NM_147127.5(EVC2):c.2526C>T (p.Ser842=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2952280	NM_147127.5(EVC2):c.2736C>G (p.Ser912=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2952260	NM_153717.3(EVC):c.1452A>G (p.Glu484=)	EVC	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2952230	NM_147127.5(EVC2):c.954C>T (p.Phe318=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2952207	NM_153717.3(EVC):c.822G>A (p.Lys274=)	EVC	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2951963	NM_153717.3(EVC):c.2187C>A (p.Ala729=)	EVC	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2951933	NM_153717.3(EVC):c.1465-8C>T	EVC	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2951890	NM_153717.3(EVC):c.1569G>C (p.Leu523=)	EVC	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2951743	NM_153717.3(EVC):c.1564-7G>T	EVC	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2951733	NM_147127.5(EVC2):c.1163del (p.Leu388fs)	EVC2, LOC126806961 (L388fs +1 more)	Deletion (frameshift variant)	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 2951605	NM_147127.5(EVC2):c.2332del (p.Glu778fs)	EVC2 (E698fs +1 more)	Deletion (frameshift variant)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2951507	NM_147127.5(EVC2):c.228+16C>T	EVC2	Single nucleotide variant (intron variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2951502	NM_147127.5(EVC2):c.1807_1808del (p.Gln603fs)	EVC2 (Q603fs +1 more)	Deletion (frameshift variant)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2951500	NM_147127.5(EVC2):c.657A>G (p.Gly219=)	EVC2	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2951427	NM_147127.5(EVC2):c.1706del (p.Ile569fs)	EVC2 (I489fs +1 more)	Deletion (frameshift variant)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2951410	NM_147127.5(EVC2):c.3558-12T>C	EVC2	Single nucleotide variant (intron variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2951317	NM_147127.5(EVC2):c.3027C>T (p.Ala1009=)	EVC2	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2951316	NM_147127.5(EVC2):c.1749T>C (p.Ser583=)	EVC2	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2951226	NM_147127.5(EVC2):c.2508C>G (p.Leu836=)	EVC2	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2951216	NM_147127.5(EVC2):c.3617G>A (p.Arg1206Lys)	EVC2 (R1126K +1 more)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +1 more	GUncertain significance
Select item 2951197	NM_147127.5(EVC2):c.1371A>G (p.Glu457=)	EVC2, LOC126806961	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2951191	NM_153717.3(EVC):c.2089_2090del (p.Arg697fs)	EVC (R697fs)	Deletion (frameshift variant)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2951168	NM_147127.5(EVC2):c.314del (p.Lys105fs)	EVC2 (K25fs +1 more)	Deletion (frameshift variant)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2951113	NM_147127.5(EVC2):c.2469A>C (p.Ala823=)	EVC2	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2950997	NM_147127.5(EVC2):c.1887-18T>C	EVC2	Single nucleotide variant (intron variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2950862	NM_153717.3(EVC):c.2894+15C>T	EVC	Single nucleotide variant (intron variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2950861	NM_147127.5(EVC2):c.1887-19T>G	EVC2	Single nucleotide variant (intron variant)	Curry-Hall syndrome +1 more	GLikely benign

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