ClinVar for MedGen (Select 8584) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4530699	NM_020779.4(WDR35):c.2063+38G>A	WDR35	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 4293065	NM_153717.3(EVC):c.1782G>A (p.Trp594Ter)	EVC (W594*)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome	GPathogenic
Select item 4081647	NM_147127.5(EVC2):c.2523_2536delinsA (p.Phe841fs)	EVC2 (F761fs +1 more)	Indel (frameshift variant)	Ellis-van Creveld syndrome	GPathogenic
Select item 4072420	NM_153717.3(EVC):c.2188C>T (p.Gln730Ter)	EVC (Q730*)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 4067572	NM_153717.3(EVC):c.1697C>T (p.Ala566Val)	EVC (A566V)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067571	NM_153717.3(EVC):c.409C>T (p.Pro137Ser)	EVC (P137S)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067570	NM_153717.3(EVC):c.496C>T (p.Gln166Ter)	EVC (Q166*)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 4067569	NM_153717.3(EVC):c.1311C>G (p.Ser437Arg)	EVC (S437R)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067568	NM_153717.3(EVC):c.156C>G (p.Arg52=)	EVC	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067567	NM_153717.3(EVC):c.998A>C (p.Lys333Thr)	EVC (K333T)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067566	NM_153717.3(EVC):c.63del (p.Arg22fs)	EVC (R22fs)	Deletion (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 4067565	NM_153717.3(EVC):c.633G>A (p.Leu211=)	EVC	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067564	NM_153717.3(EVC):c.1733A>G (p.Gln578Arg)	EVC (Q578R)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067563	NM_153717.3(EVC):c.1509C>T (p.Asp503=)	EVC	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067562	NM_153717.3(EVC):c.1886+8C>G	EVC	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067561	NM_153717.3(EVC):c.1275G>T (p.Gln425His)	EVC (Q425H)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067560	NM_153717.3(EVC):c.1079C>A (p.Ser360Tyr)	EVC (S360Y)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067558	NM_153717.3(EVC):c.895G>A (p.Val299Met)	EVC (V299M)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067557	NM_153717.3(EVC):c.9C>T (p.Arg3=)	EVC, LOC129992144	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067556	NM_153717.3(EVC):c.2221G>A (p.Glu741Lys)	EVC (E741K)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067555	NM_153717.3(EVC):c.60G>A (p.Ala20=)	EVC	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067554	NM_153717.3(EVC):c.23G>A (p.Cys8Tyr)	EVC, LOC129992144 (C8Y)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067553	NM_153717.3(EVC):c.85G>C (p.Ala29Pro)	EVC (A29P)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067552	NM_153717.3(EVC):c.63G>A (p.Leu21=)	EVC	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome	GLikely benign
Select item 4067551	NM_153717.3(EVC):c.64C>T (p.Arg22Trp)	EVC (R22W)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067549	NM_153717.3(EVC):c.2515A>T (p.Arg839Trp)	EVC (R839W)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067548	NM_153717.3(EVC):c.2402T>C (p.Met801Thr)	EVC (M801T)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067547	NM_153717.3(EVC):c.6C>G (p.Ala2=)	EVC, LOC129992144	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome	GLikely benign
Select item 4067546	NM_153717.3(EVC):c.32A>G (p.Asp11Gly)	EVC (D11G)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067545	NM_153717.3(EVC):c.16G>A (p.Ala6Thr)	EVC, LOC129992144 (A6T)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067544	NM_153717.3(EVC):c.43C>T (p.Leu15=)	EVC	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067543	NM_153717.3(EVC):c.2123G>C (p.Ser708Thr)	EVC (S708T)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067542	NM_153717.3(EVC):c.2458A>T (p.Met820Leu)	EVC (M820L)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067540	NM_153717.3(EVC):c.2741T>C (p.Leu914Pro)	EVC (L914P)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067539	NM_153717.3(EVC):c.296T>C (p.Val99Ala)	EVC (V99A)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067538	NM_153717.3(EVC):c.695A>G (p.Lys232Arg)	EVC (K232R)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067537	NM_153717.3(EVC):c.1293G>A (p.Gln431=)	EVC	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067536	NM_153717.3(EVC):c.2752A>C (p.Lys918Gln)	EVC (K918Q)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067535	NM_153717.3(EVC):c.1936C>G (p.Leu646Val)	EVC (L646V)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067534	NM_153717.3(EVC):c.2446C>G (p.Gln816Glu)	EVC (Q816E)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067533	NM_153717.3(EVC):c.2270C>A (p.Thr757Asn)	EVC (T757N)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067532	NM_153717.3(EVC):c.128G>C (p.Gly43Ala)	EVC (G43A)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067530	NM_153717.3(EVC):c.2269A>C (p.Thr757Pro)	EVC (T757P)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067529	NM_153717.3(EVC):c.1563+4C>T	EVC	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067528	NM_153717.3(EVC):c.266A>G (p.Glu89Gly)	EVC (E89G)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067527	NM_153717.3(EVC):c.36G>A (p.Ala12=)	EVC	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067526	NM_153717.3(EVC):c.111G>T (p.Ala37=)	EVC	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome	GLikely benign
Select item 4067525	NM_153717.3(EVC):c.485G>A (p.Gly162Glu)	EVC (G162E)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067524	NM_153717.3(EVC):c.1856T>C (p.Val619Ala)	EVC (V619A)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067523	NM_153717.3(EVC):c.1464+4A>T	EVC	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067522	NM_153717.3(EVC):c.938A>G (p.Asn313Ser)	EVC (N313S)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067521	NM_153717.3(EVC):c.2344A>G (p.Thr782Ala)	EVC (T782A)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067520	NM_153717.3(EVC):c.1767A>G (p.Gln589=)	EVC	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067519	NM_153717.3(EVC):c.2644G>A (p.Gly882Arg)	EVC (G882R)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067518	NM_153717.3(EVC):c.1728del (p.Arg577fs)	EVC (R577fs)	Deletion (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 4067517	NM_153717.3(EVC):c.2773G>T (p.Gly925Trp)	EVC (G925W)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067516	NM_153717.3(EVC):c.940-147T>A	EVC	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067514	NM_153717.3(EVC):c.2872G>T (p.Asp958Tyr)	EVC (D958Y)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067513	NM_153717.3(EVC):c.2015A>G (p.Gln672Arg)	EVC (Q672R)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067512	NM_153717.3(EVC):c.20C>G (p.Ala7Gly)	EVC, LOC129992144 (A7G)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067511	NM_153717.3(EVC):c.1004C>G (p.Ser335Cys)	EVC (S335C)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067510	NM_153717.3(EVC):c.2505G>T (p.Ser835=)	EVC	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067509	NM_153717.3(EVC):c.2060G>A (p.Cys687Tyr)	EVC (C687Y)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067508	NM_153717.3(EVC):c.2281G>A (p.Ala761Thr)	EVC (A761T)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067507	NM_153717.3(EVC):c.58G>A (p.Ala20Thr)	EVC (A20T)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067506	NM_153717.3(EVC):c.36G>C (p.Ala12=)	EVC	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067505	NM_153717.3(EVC):c.76G>A (p.Ala26Thr)	EVC (A26T)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067504	NM_153717.3(EVC):c.4G>A (p.Ala2Thr)	EVC, LOC129992144 (A2T)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067503	NM_153717.3(EVC):c.61C>A (p.Leu21Met)	EVC (L21M)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067502	NM_153717.3(EVC):c.70G>A (p.Ala24Thr)	EVC (A24T)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067501	NM_153717.3(EVC):c.2835C>A (p.Asp945Glu)	EVC (D945E)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067500	NM_153717.3(EVC):c.54G>A (p.Arg18=)	EVC	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067498	NM_153717.3(EVC):c.19G>A (p.Ala7Thr)	EVC, LOC129992144 (A7T)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067497	NM_153717.3(EVC):c.2819C>T (p.Pro940Leu)	EVC (P940L)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067496	NM_153717.3(EVC):c.2788C>G (p.Pro930Ala)	EVC (P930A)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067495	NM_153717.3(EVC):c.418C>T (p.His140Tyr)	EVC (H140Y)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067494	NM_153717.3(EVC):c.348G>A (p.Lys116=)	EVC	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067493	NM_153717.3(EVC):c.654A>C (p.Leu218Phe)	EVC (L218F)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067492	NM_153717.3(EVC):c.591C>T (p.Ala197=)	EVC	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067490	NM_153717.3(EVC):c.2765C>T (p.Ala922Val)	EVC (A922V)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067489	NM_153717.3(EVC):c.2674G>C (p.Glu892Gln)	EVC (E892Q)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 4067488	NM_153717.3(EVC):c.2667C>G (p.Ala889=)	EVC	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 3891542	NM_147127.5(EVC2):c.394C>T (p.Pro132Ser)	EVC2 (P52S +1 more)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +1 more	GUncertain significance
Select item 3891536	NM_147127.5(EVC2):c.2383G>A (p.Glu795Lys)	EVC2 (E795K +1 more)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +1 more	GUncertain significance
Select item 3891532	NM_147127.5(EVC2):c.1327A>G (p.Ile443Val)	EVC2, LOC126806961 (I363V +1 more)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +1 more	GUncertain significance
Select item 3891524	NM_147127.5(EVC2):c.1044C>A (p.Phe348Leu)	EVC2 (F268L +1 more)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +1 more	GUncertain significance
Select item 3891515	NM_153717.3(EVC):c.918C>G (p.Tyr306Ter)	EVC (Y306*)	Single nucleotide variant (nonsense)	Curry-Hall syndrome +1 more	GLikely pathogenic
Select item 3891505	NM_153717.3(EVC):c.702G>A (p.Met234Ile)	EVC (M234I)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +1 more	GUncertain significance
Select item 3891502	NM_153717.3(EVC):c.498G>C (p.Gln166His)	EVC (Q166H)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +1 more	GUncertain significance
Select item 3891491	NM_153717.3(EVC):c.2311C>A (p.Leu771Met)	EVC (L771M)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +1 more	GUncertain significance
Select item 3891484	NM_153717.3(EVC):c.2033G>A (p.Arg678His)	EVC (R678H)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +1 more	GUncertain significance
Select item 3891474	NM_153717.3(EVC):c.1124G>A (p.Arg375Gln)	EVC (R375Q)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +1 more	GUncertain significance
Select item 3891467	NM_153717.3(EVC):c.1075G>T (p.Asp359Tyr)	EVC (D359Y)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +1 more	GUncertain significance
Select item 3778763	NM_153717.3(EVC):c.2443del (p.Leu815fs)	EVC (L815fs)	Deletion (frameshift variant)	Ellis-van Creveld syndrome	GPathogenic
Select item 3763859	NM_147127.5(EVC2):c.3659+6G>A	EVC2	Single nucleotide variant (intron variant)	Curry-Hall syndrome +1 more	GUncertain significance
Select item 3763858	NM_147127.5(EVC2):c.3272+15C>G	EVC2	Single nucleotide variant (intron variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 3763835	NM_147127.5(EVC2):c.3544_3545delinsTC (p.Val1182Ser)	EVC2 (V1102S +1 more)	Indel (missense variant)	Curry-Hall syndrome +1 more	GUncertain significance
Select item 3763552	NM_147127.5(EVC2):c.460A>G (p.Ile154Val)	EVC2 (I154V +1 more)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +1 more	GUncertain significance
Select item 3763502	NM_153717.3(EVC):c.1563+14G>C	EVC	Single nucleotide variant (intron variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 3763425	NM_147127.5(EVC2):c.1619T>C (p.Ile540Thr)	EVC2 (I460T +1 more)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +1 more	GUncertain significance

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