ClinVar for Gene (Select 2121) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 1941

<< First< Prev

Page of 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246741	NC_000004.11:g.(?_2357152)_(15176083_?)del	ABLIM2, ACOX3 +83 more	Deletion	not provided	GPathogenic
Select item 3246643	NC_000004.11:g.(?_5754598)_(5758602_?)del	EVC	Deletion	Curry-Hall syndrome +1 more	GLikely pathogenic
Select item 3246642	NC_000004.11:g.(?_5803694)_(5804872_?)del	EVC	Deletion	Curry-Hall syndrome +1 more	GLikely pathogenic
Select item 3246641	NC_000004.11:g.(?_5746911)_(5758109_?)del	EVC	Deletion	Curry-Hall syndrome +1 more	GPathogenic
Select item 3246639	NC_000004.11:g.(?_5733132)_(5735182_?)del	EVC	Deletion	Curry-Hall syndrome +1 more	GLikely pathogenic
Select item 3246638	NC_000004.11:g.(?_5731014)_(5758109_?)del	EVC	Deletion	Curry-Hall syndrome +1 more	GPathogenic
Select item 3246637	NC_000004.11:g.(?_5710003)_(5735172_?)del	EVC2, EVC	Deletion	Curry-Hall syndrome +1 more	GPathogenic
Select item 3246636	NC_000004.11:g.(?_5682967)_(5721120_?)del	EVC, EVC2	Deletion	Curry-Hall syndrome +1 more	GPathogenic
Select item 3246635	NC_000004.11:g.(?_5564575)_(5758109_?)del	EVC, EVC2	Deletion	Curry-Hall syndrome +1 more	GPathogenic
Select item 3246631	NC_000004.11:g.(?_5564575)_(5735182_?)dup	EVC, EVC2	Duplication	Curry-Hall syndrome +1 more	GUncertain significance
Select item 3246624	NC_000004.11:g.(?_5699300)_(5758109_?)del	EVC, EVC2	Deletion	Curry-Hall syndrome +1 more	GPathogenic
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 3090806	NM_153717.3(EVC):c.2555A>T (p.His852Leu)	EVC (H852L)	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 3090804	NM_153717.3(EVC):c.2023C>T (p.Arg675Trp)	EVC (R675W)	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 3090801	NM_153717.3(EVC):c.1094C>A (p.Ala365Asp)	EVC (A365D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 3077542	NM_001014809.3(CRMP1):c.1773C>A (p.His591Gln)	CRMP1, EVC (H471Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077541	NM_001014809.3(CRMP1):c.1772A>T (p.His591Leu)	CRMP1, EVC (H591L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067491	NM_153717.3(EVC):c.1390C>G (p.Leu464Val)	EVC (L464V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3065083	NM_153717.3(EVC):c.1363C>T (p.Gln455Ter)	EVC (Q455*)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 3064866	NM_153717.3(EVC):c.801del (p.Asp268fs)	EVC (D268fs)	Deletion (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 3062783	GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	ABLIM2, ACOX3 +140 more	Copy number loss	not specified	GPathogenic
Select item 3062781	GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1	ABLIM2, ACOX3 +120 more	Copy number loss	not specified	GPathogenic
Select item 3062771	GRCh37/hg19 4p16.3-16.1(chr4:68345-7923907)x1	ADD1, ADRA2C +82 more	Copy number loss	not specified	GPathogenic
Select item 3062759	GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	ABLIM2, ACOX3 +143 more	Copy number loss	not specified	GPathogenic
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3044517	NM_153717.3(EVC):c.1219C>T (p.Leu407=)	EVC	Single nucleotide variant (synonymous variant)	EVC-related disorder	GLikely benign
Select item 3034010	NM_153717.3(EVC):c.1776+4C>T	EVC	Single nucleotide variant (intron variant)	EVC-related disorder	GLikely benign
Select item 3024630	GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 2954527	NM_153717.3(EVC):c.2449+2T>C	EVC	Single nucleotide variant (splice donor variant)	Ellis-van Creveld syndrome +1 more	GLikely pathogenic
Select item 2954304	NM_153717.3(EVC):c.958C>T (p.Gln320Ter)	EVC (Q320*)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 2954096	NM_153717.3(EVC):c.2097+1G>A	EVC	Single nucleotide variant (splice donor variant)	Ellis-van Creveld syndrome +1 more	GLikely pathogenic
Select item 2954057	NM_153717.3(EVC):c.641dup (p.Tyr214Ter)	EVC (Y214*)	Duplication (nonsense)	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 2953903	NM_153717.3(EVC):c.2566C>T (p.Leu856=)	EVC	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2953735	NM_153717.3(EVC):c.1464+12C>A	EVC	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2953716	NM_153717.3(EVC):c.24C>T (p.Cys8=)	EVC, LOC129992144	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
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 2953471	NM_153717.3(EVC):c.2782+15_2782+18dup	EVC	Duplication (intron variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2953171	NM_153717.3(EVC):c.241dup (p.Ser81fs)	EVC (S81fs)	Duplication (frameshift variant)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2952992	NM_153717.3(EVC):c.1462G>T (p.Glu488Ter)	EVC (E488*)	Single nucleotide variant (nonsense)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2952988	NM_153717.3(EVC):c.417G>T (p.Leu139=)	EVC	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2952865	NM_153717.3(EVC):c.1122dup (p.Arg375fs)	EVC (R375fs)	Duplication (frameshift variant)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2952821	NM_153717.3(EVC):c.333A>T (p.Thr111=)	EVC	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2952708	NM_153717.3(EVC):c.1564-10T>G	EVC	Single nucleotide variant (intron variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2952607	NM_153717.3(EVC):c.195G>T (p.Leu65=)	EVC	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2952536	NM_153717.3(EVC):c.2790C>A (p.Pro930=)	EVC	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2952516	NM_153717.3(EVC):c.2445G>A (p.Leu815=)	EVC	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2952439	NM_153717.3(EVC):c.1465-12T>G	EVC	Single nucleotide variant (intron variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2952260	NM_153717.3(EVC):c.1452A>G (p.Glu484=)	EVC	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2952207	NM_153717.3(EVC):c.822G>A (p.Lys274=)	EVC	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2951963	NM_153717.3(EVC):c.2187C>A (p.Ala729=)	EVC	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2951933	NM_153717.3(EVC):c.1465-8C>T	EVC	Single nucleotide variant (intron variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2951890	NM_153717.3(EVC):c.1569G>C (p.Leu523=)	EVC	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2951743	NM_153717.3(EVC):c.1564-7G>T	EVC	Single nucleotide variant (intron 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)	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 2950862	NM_153717.3(EVC):c.2894+15C>T	EVC	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2950756	NM_153717.3(EVC):c.1512G>A (p.Leu504=)	EVC	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2950748	NM_153717.3(EVC):c.1750dup (p.Gln584fs)	EVC (Q584fs)	Duplication (frameshift variant)	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 2950655	NM_153717.3(EVC):c.2793A>C (p.Leu931=)	EVC	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2950567	NM_153717.3(EVC):c.1825C>A (p.Arg609=)	EVC	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2950486	NM_153717.3(EVC):c.729C>T (p.Cys243=)	EVC	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2950467	NM_153717.3(EVC):c.1179C>G (p.Thr393=)	EVC	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2950457	NM_153717.3(EVC):c.2199G>A (p.Gly733=)	EVC	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2950189	NM_153717.3(EVC):c.2820C>G (p.Pro940=)	EVC	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2949993	NM_153717.3(EVC):c.2304+15_2304+16del	EVC	Microsatellite (intron variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2949912	NM_153717.3(EVC):c.702+15T>C	EVC	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2949888	NM_153717.3(EVC):c.174+16_174+30del	EVC	Deletion (intron variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2949862	NM_153717.3(EVC):c.1887-5C>T	EVC	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2949647	NM_153717.3(EVC):c.2714A>G (p.Glu905Gly)	EVC (E905G)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +1 more	GUncertain significance
Select item 2949430	NM_153717.3(EVC):c.568dup (p.Arg190fs)	EVC (R190fs)	Duplication (frameshift variant)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2949409	NM_153717.3(EVC):c.300+1G>T	EVC	Single nucleotide variant (splice donor variant)	Curry-Hall syndrome +1 more	GLikely pathogenic
Select item 2949368	NM_153717.3(EVC):c.385-13A>G	EVC	Single nucleotide variant (intron variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2949357	NM_153717.3(EVC):c.537C>T (p.His179=)	EVC	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2949171	NM_153717.3(EVC):c.2580G>C (p.Lys860Asn)	EVC (K860N)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +1 more	GUncertain significance
Select item 2948803	NM_153717.3(EVC):c.747T>A (p.Pro249=)	EVC	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2948733	NM_153717.3(EVC):c.1605G>A (p.Val535=)	EVC	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2948452	NM_153717.3(EVC):c.2796G>A (p.Arg932=)	EVC	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2948450	NM_153717.3(EVC):c.1315+11G>C	EVC	Single nucleotide variant (intron variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2948280	NM_153717.3(EVC):c.2783-11G>A	EVC	Single nucleotide variant (intron variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2948179	NM_153717.3(EVC):c.1578C>T (p.Ser526=)	EVC	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2948080	NM_153717.3(EVC):c.2126_2129dup (p.Glu711fs)	EVC (E711fs)	Duplication (frameshift variant)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2947846	NM_153717.3(EVC):c.1059C>A (p.Ala353=)	EVC	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2947803	NM_153717.3(EVC):c.2561+13C>A	EVC	Single nucleotide variant (intron variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2947496	NM_153717.3(EVC):c.891T>A (p.Ala297=)	EVC	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2947368	NM_153717.3(EVC):c.1656A>G (p.Glu552=)	EVC	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2947251	NM_153717.3(EVC):c.1098+13G>C	EVC	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2947149	NM_153717.3(EVC):c.2399_2408del (p.Ile800fs)	EVC (I800fs)	Deletion (frameshift variant)	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 2947081	NM_153717.3(EVC):c.2097+10G>T	EVC	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2946999	NM_153717.3(EVC):c.2523A>C (p.Ala841=)	EVC	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2946979	NM_153717.3(EVC):c.1563+15T>G	EVC	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2946836	NM_153717.3(EVC):c.2167C>T (p.Gln723Ter)	EVC (Q723*)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 2946829	NM_153717.3(EVC):c.1143G>T (p.Val381=)	EVC	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2946825	NM_153717.3(EVC):c.1564-7G>C	EVC	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2946817	NM_153717.3(EVC):c.2305-17T>C	EVC	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2946641	NM_153717.3(EVC):c.596del (p.Pro199fs)	EVC (P199fs)	Deletion (frameshift variant)	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 2946481	NM_153717.3(EVC):c.1779G>A (p.Val593=)	EVC	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2946412	NM_153717.3(EVC):c.2556C>T (p.His852=)	EVC	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign

<< First< Prev

Page of 20