"Ambry Genetics"[submitter] AND "EVC"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 285109	NM_147127.5(EVC2):c.92T>C (p.Leu31Pro)	EVC, EVC2 (L31P)	Single nucleotide variant (missense variant +1 more)	Curry-Hall syndrome +3 more	GConflicting classifications of pathogenicity
Select item 193508	NM_153717.3(EVC):c.8G>C (p.Arg3Pro)	EVC, LOC129992144 (R3P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 2097138	NM_153717.3(EVC):c.53G>T (p.Arg18Leu)	EVC (R18L)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +2 more	GUncertain significance
Select item 3090808	NM_153717.3(EVC):c.56A>T (p.Asp19Val)	EVC (D19V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2632960	NM_153717.3(EVC):c.70G>T (p.Ala24Ser)	EVC (A24S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3276647	NM_153717.3(EVC):c.88C>G (p.Pro30Ala)	EVC (P30A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274562	NM_153717.3(EVC):c.88C>A (p.Pro30Thr)	EVC (P30T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2137599	NM_153717.3(EVC):c.91G>A (p.Ala31Thr)	EVC (A31T)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1003868	NM_153717.3(EVC):c.107C>G (p.Ala36Gly)	EVC (A36G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1397708	NM_153717.3(EVC):c.136C>T (p.Leu46Phe)	EVC (L46F)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +2 more	GUncertain significance
Select item 2264219	NM_153717.3(EVC):c.154C>G (p.Arg52Gly)	EVC (R52G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2197559	NM_153717.3(EVC):c.154C>T (p.Arg52Cys)	EVC (R52C)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2515296	NM_153717.3(EVC):c.185C>T (p.Thr62Ile)	EVC (T62I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2043780	NM_153717.3(EVC):c.230C>T (p.Ser77Leu)	EVC (S77L)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2336332	NM_153717.3(EVC):c.255G>C (p.Arg85Ser)	EVC (R85S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615560	NM_153717.3(EVC):c.340G>T (p.Ala114Ser)	EVC (A114S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 349108	NM_153717.3(EVC):c.409C>A (p.Pro137Thr)	EVC (P137T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 907532	NM_153717.3(EVC):c.455C>T (p.Pro152Leu)	EVC (P152L)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +2 more	GUncertain significance
Select item 1493707	NM_153717.3(EVC):c.461A>G (p.Glu154Gly)	EVC (E154G)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +2 more	GUncertain significance
Select item 197384	NM_153717.3(EVC):c.469C>G (p.Pro157Ala)	EVC (P157A)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 2612101	NM_153717.3(EVC):c.536A>G (p.His179Arg)	EVC (H179R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 197383	NM_153717.3(EVC):c.569G>T (p.Arg190Leu)	EVC (R190L)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +4 more	GConflicting classifications of pathogenicity
Select item 771565	NM_153717.3(EVC):c.589G>T (p.Ala197Ser)	EVC (A197S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 3276652	NM_153717.3(EVC):c.650A>G (p.His217Arg)	EVC (H217R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2184066	NM_153717.3(EVC):c.698A>C (p.His233Pro)	EVC (H233P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2323207	NM_153717.3(EVC):c.705G>A (p.Met235Ile)	EVC (M235I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286984	NM_153717.3(EVC):c.734T>A (p.Leu245His)	EVC (L245H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2039572	NM_153717.3(EVC):c.736G>T (p.Asp246Tyr)	EVC (D246Y)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +2 more	GUncertain significance
Select item 1402979	NM_153717.3(EVC):c.857C>G (p.Ser286Trp)	EVC (S286W)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +2 more	GUncertain significance
Select item 349166	NM_153717.3(EVC):c.899A>C (p.Glu300Ala)	EVC (E300A)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +2 more	GUncertain significance
Select item 2621217	NM_153717.3(EVC):c.923A>G (p.Glu308Gly)	EVC (E308G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 906716	NM_153717.3(EVC):c.1019G>A (p.Arg340Gln)	EVC (R340Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3090801	NM_153717.3(EVC):c.1094C>A (p.Ala365Asp)	EVC (A365D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276655	NM_153717.3(EVC):c.1169A>G (p.Gln390Arg)	EVC (Q390R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492675	NM_153717.3(EVC):c.1180A>G (p.Arg394Gly)	EVC (R394G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276654	NM_153717.3(EVC):c.1222G>T (p.Ala408Ser)	EVC (A408S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299299	NM_153717.3(EVC):c.1243G>A (p.Gly415Arg)	EVC (G415R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 349173	NM_153717.3(EVC):c.1258G>A (p.Glu420Lys)	EVC (E420K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 664480	NM_153717.3(EVC):c.1321G>A (p.Val441Ile)	EVC (V441I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 2602983	NM_153717.3(EVC):c.1358C>G (p.Ala453Gly)	EVC (A453G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 461813	NM_153717.3(EVC):c.1448C>T (p.Pro483Leu)	EVC (P483L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 349178	NM_153717.3(EVC):c.1462G>A (p.Glu488Lys)	EVC (E488K)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +2 more	GConflicting classifications of pathogenicity
Select item 349180	NM_153717.3(EVC):c.1523A>G (p.Glu508Gly)	EVC (E508G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 349181	NM_153717.3(EVC):c.1528G>A (p.Val510Ile)	EVC (V510I)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +3 more	GConflicting classifications of pathogenicity
Select item 2370111	NM_153717.3(EVC):c.1603G>T (p.Val535Leu)	EVC (V535L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262845	NM_153717.3(EVC):c.1610C>T (p.Ala537Val)	EVC (A537V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 766973	NM_153717.3(EVC):c.1612C>G (p.Leu538Val)	EVC (L538V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2235858	NM_153717.3(EVC):c.1649C>A (p.Pro550His)	EVC (P550H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277077	NM_153717.3(EVC):c.1651C>G (p.Pro551Ala)	EVC (P551A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 497216	NM_153717.3(EVC):c.1652C>T (p.Pro551Leu)	EVC (P551L)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +3 more	GUncertain significance
Select item 2314262	NM_153717.3(EVC):c.1673G>A (p.Arg558Lys)	EVC (R558K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1020303	NM_153717.3(EVC):c.1693G>A (p.Ala565Thr)	EVC (A565T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2379721	NM_153717.3(EVC):c.1696G>C (p.Ala566Pro)	EVC (A566P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 842463	NM_153717.3(EVC):c.1717A>G (p.Asn573Asp)	EVC (N573D)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +2 more	GConflicting classifications of pathogenicity
Select item 452104	NM_153717.3(EVC):c.1744C>G (p.Leu582Val)	EVC (L582V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 194282	NM_153717.3(EVC):c.1826G>A (p.Arg609Gln)	EVC (R609Q)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 3276651	NM_153717.3(EVC):c.1850G>A (p.Arg617His)	EVC (R617H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 194445	NM_153717.3(EVC):c.1928G>A (p.Arg643His)	EVC (R643H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1495787	NM_153717.3(EVC):c.1940G>C (p.Arg647Pro)	EVC (R647P)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +2 more	GUncertain significance
Select item 618630	NM_153717.3(EVC):c.1963G>A (p.Ala655Thr)	EVC (A655T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2488509	NM_153717.3(EVC):c.1969G>C (p.Ala657Pro)	EVC (A657P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3090803	NM_153717.3(EVC):c.1981C>G (p.Gln661Glu)	EVC (Q661E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253089	NM_153717.3(EVC):c.1987C>T (p.Arg663Trp)	EVC (R663W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3090804	NM_153717.3(EVC):c.2023C>T (p.Arg675Trp)	EVC (R675W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3090805	NM_153717.3(EVC):c.2042A>G (p.Glu681Gly)	EVC (E681G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550101	NM_153717.3(EVC):c.2101G>T (p.Ala701Ser)	EVC (A701S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 349193	NM_153717.3(EVC):c.2102C>T (p.Ala701Val)	EVC (A701V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2194410	NM_153717.3(EVC):c.2105G>A (p.Arg702His)	EVC (R702H)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +2 more	GUncertain significance
Select item 904458	NM_153717.3(EVC):c.2126G>A (p.Arg709Gln)	EVC (R709Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1470470	NM_153717.3(EVC):c.2132A>G (p.Glu711Gly)	EVC (E711G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2286983	NM_153717.3(EVC):c.2134G>A (p.Glu712Lys)	EVC (E712K)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +2 more	GUncertain significance
Select item 2488029	NM_153717.3(EVC):c.2150C>T (p.Thr717Ile)	EVC (T717I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276648	NM_153717.3(EVC):c.2152C>G (p.Arg718Gly)	EVC (R718G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495719	NM_153717.3(EVC):c.2170C>T (p.Arg724Trp)	EVC (R724W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406051	NM_153717.3(EVC):c.2171G>A (p.Arg724Gln)	EVC (R724Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2082177	NM_153717.3(EVC):c.2257C>T (p.Arg753Trp)	EVC (R753W)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +2 more	GUncertain significance
Select item 2037675	NM_153717.3(EVC):c.2258G>A (p.Arg753Gln)	EVC (R753Q)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +2 more	GConflicting classifications of pathogenicity
Select item 349196	NM_153717.3(EVC):c.2276G>A (p.Ser759Asn)	EVC (S759N)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2542145	NM_153717.3(EVC):c.2294A>G (p.Asp765Gly)	EVC (D765G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276653	NM_153717.3(EVC):c.2345C>T (p.Thr782Ile)	EVC (T782I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1305733	NM_153717.3(EVC):c.2392G>A (p.Gly798Arg)	EVC (G798R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2507036	NM_153717.3(EVC):c.2426T>G (p.Leu809Arg)	EVC (L809R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2321642	NM_153717.3(EVC):c.2450G>A (p.Gly817Asp)	EVC (G817D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1347769	NM_153717.3(EVC):c.2500C>T (p.Pro834Ser)	EVC (P834S)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +2 more	GUncertain significance
Select item 1360203	NM_153717.3(EVC):c.2516G>A (p.Arg839Lys)	EVC (R839K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1311405	NM_153717.3(EVC):c.2519C>T (p.Thr840Met)	EVC (T840M)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2194033	NM_153717.3(EVC):c.2525G>A (p.Gly842Asp)	EVC (G842D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3090806	NM_153717.3(EVC):c.2555A>T (p.His852Leu)	EVC (H852L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621118	NM_153717.3(EVC):c.2606A>G (p.His869Arg)	EVC (H869R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386600	NM_153717.3(EVC):c.2618G>A (p.Arg873His)	EVC (R873H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555579	NM_153717.3(EVC):c.2632C>G (p.Gln878Glu)	EVC (Q878E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276649	NM_153717.3(EVC):c.2656C>G (p.Leu886Val)	EVC (L886V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615679	NM_153717.3(EVC):c.2678C>T (p.Thr893Ile)	EVC (T893I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 969014	NM_153717.3(EVC):c.2732G>A (p.Arg911Gln)	EVC (R911Q)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +2 more	GUncertain significance
Select item 2264352	NM_153717.3(EVC):c.2737C>T (p.Pro913Ser)	EVC (P913S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 461814	NM_153717.3(EVC):c.2932G>T (p.Asp978Tyr)	EVC (D978Y +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +2 more	GUncertain significance
Select item 3077544	NM_001014809.3(CRMP1):c.1982A>G (p.Asp661Gly)	CRMP1, EVC (D661G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318982	NM_001014809.3(CRMP1):c.1978A>C (p.Ile660Leu)	CRMP1, EVC (I660L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077543	NM_001014809.3(CRMP1):c.1972G>T (p.Ala658Ser)	CRMP1, EVC (A538S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473252	NM_001014809.3(CRMP1):c.1933A>G (p.Ile645Val)	CRMP1, EVC (I645V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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