C0268140[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 887968	NM_005236.3(ERCC4):c.12G>A (p.Gly4=)	ERCC4, LOC130058543	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group F	GUncertain significance
Select item 134131	NM_005236.3(ERCC4):c.16C>T (p.Pro6Ser)	ERCC4, LOC130058543 (P6S)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +7 more	GUncertain significance
Select item 240125	NM_005236.3(ERCC4):c.33C>T (p.Ala11=)	ERCC4, LOC130058543	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 317796	NM_005236.3(ERCC4):c.41C>G (p.Pro14Arg)	ERCC4, LOC130058543 (P14R)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F	GUncertain significance
Select item 317797	NM_005236.3(ERCC4):c.61C>G (p.Gln21Glu)	ERCC4, LOC130058543 (Q21E)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +2 more	GUncertain significance
Select item 134132	NM_005236.3(ERCC4):c.79C>T (p.Leu27Phe)	ERCC4, LOC130058543 (L27F)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +4 more	GUncertain significance
Select item 317798	NM_005236.3(ERCC4):c.105C>T (p.Cys35=)	ERCC4, LOC130058543	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group F +2 more	GConflicting classifications of pathogenicity
Select item 884829	NM_005236.3(ERCC4):c.145C>T (p.Leu49Phe)	LOC130058543, ERCC4 (L49F)	Single nucleotide variant (missense variant)	Cockayne syndrome +4 more	GUncertain significance
Select item 259683	NM_005236.3(ERCC4):c.207+11G>A	ERCC4	Single nucleotide variant (intron variant)	Fanconi anemia complementation group Q +5 more	GBenign
Select item 134143	NM_005236.3(ERCC4):c.217A>G (p.Ile73Val)	ERCC4 (I73V)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +4 more	GUncertain significance
Select item 474204	NM_005236.3(ERCC4):c.228G>A (p.Leu76=)	ERCC4	Single nucleotide variant (synonymous variant)	ERCC4-related condition +4 more	GConflicting classifications of pathogenicity
Select item 240124	NM_005236.3(ERCC4):c.252C>T (p.Leu84=)	ERCC4	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 317799	NM_005236.3(ERCC4):c.275T>G (p.Ile92Ser)	ERCC4 (I92S)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F	GUncertain significance
Select item 474205	NM_005236.3(ERCC4):c.325G>A (p.Ala109Thr)	ERCC4 (A109T)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum +5 more	GConflicting classifications of pathogenicity
Select item 885757	NM_005236.3(ERCC4):c.367A>G (p.Ile123Val)	ERCC4 (I123V)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F	GUncertain significance
Select item 807995	NM_005236.3(ERCC4):c.473G>A (p.Arg158His)	ERCC4 (R158H)	Single nucleotide variant (missense variant)	XFE progeroid syndrome +3 more	GUncertain significance
Select item 474207	NM_005236.3(ERCC4):c.532G>T (p.Val178Leu)	ERCC4 (V178L)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 888037	NM_005236.3(ERCC4):c.728A>G (p.His243Arg)	ERCC4 (H243R)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +1 more	GUncertain significance
Select item 317805	NM_005236.3(ERCC4):c.840G>A (p.Lys280=)	ERCC4	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group F +2 more	GConflicting classifications of pathogenicity
Select item 317806	NM_005236.3(ERCC4):c.891T>C (p.Tyr297=)	ERCC4	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group F	GUncertain significance
Select item 317807	NM_005236.3(ERCC4):c.935C>G (p.Ser312Cys)	ERCC4 (S312C)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F	GUncertain significance
Select item 888039	NM_005236.3(ERCC4):c.973+11A>T	ERCC4	Single nucleotide variant (intron variant)	Cockayne syndrome +4 more	GConflicting classifications of pathogenicity
Select item 259686	NM_005236.3(ERCC4):c.974-7G>A	ERCC4	Single nucleotide variant (intron variant)	Xeroderma pigmentosum, group F +5 more	GBenign
Select item 218668	NM_005236.3(ERCC4):c.974-6T>C	ERCC4	Single nucleotide variant (intron variant)	Xeroderma pigmentosum, group F +5 more	GBenign/Likely benign
Select item 317808	NM_005236.3(ERCC4):c.1102+13G>T	ERCC4	Single nucleotide variant (intron variant)	Xeroderma pigmentosum, group F +2 more	GConflicting classifications of pathogenicity
Select item 317809	NM_005236.3(ERCC4):c.1112A>G (p.Lys371Arg)	ERCC4 (K371R)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F	GUncertain significance
Select item 134148	NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser)	ERCC4 (P379S)	Single nucleotide variant (missense variant)	Cockayne syndrome +7 more	GConflicting classifications of pathogenicity
Select item 317810	NM_005236.3(ERCC4):c.1217A>G (p.Gln406Arg)	ERCC4 (Q406R)	Single nucleotide variant (missense variant)	XFE progeroid syndrome +4 more	GUncertain significance
Select item 134155	NM_005236.3(ERCC4):c.1244G>A (p.Arg415Gln)	ERCC4 (R415Q)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +4 more	GBenign/Likely benign
Select item 317811	NM_005236.3(ERCC4):c.1284G>A (p.Ala428=)	ERCC4	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 885830	NM_005236.3(ERCC4):c.1342G>C (p.Glu448Gln)	ERCC4 (E448Q)	Single nucleotide variant (missense variant)	XFE progeroid syndrome +3 more	GLikely benign
Select item 317812	NM_005236.3(ERCC4):c.1432G>A (p.Ala478Thr)	ERCC4 (A478T)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F	GUncertain significance
Select item 415025	NM_005236.3(ERCC4):c.1446A>G (p.Glu482=)	ERCC4	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group F +4 more	GBenign/Likely benign
Select item 317813	NM_005236.3(ERCC4):c.1463A>G (p.Lys488Arg)	ERCC4 (K488R)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +2 more	GUncertain significance
Select item 885831	NM_005236.3(ERCC4):c.1488A>C (p.Gln496His)	ERCC4 (Q496H)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +2 more	GUncertain significance
Select item 134150	NM_005236.3(ERCC4):c.1488A>T (p.Gln496His)	ERCC4 (Q496H)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +5 more	GConflicting classifications of pathogenicity
Select item 134153	NM_005236.3(ERCC4):c.1563C>G (p.Ser521Arg)	ERCC4 (S521R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +7 more	GConflicting classifications of pathogenicity
Select item 855799	NM_005236.3(ERCC4):c.1581A>T (p.Glu527Asp)	ERCC4 (E527D)	Single nucleotide variant (missense variant)	Cockayne syndrome +3 more	GUncertain significance
Select item 317814	NM_005236.3(ERCC4):c.1647A>C (p.Glu549Asp)	ERCC4 (E549D)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F	GUncertain significance
Select item 317815	NM_005236.3(ERCC4):c.1676G>A (p.Gly559Asp)	ERCC4 (G559D)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +3 more	GUncertain significance
Select item 134158	NM_005236.3(ERCC4):c.1727G>C (p.Arg576Thr)	ERCC4 (R576T)	Single nucleotide variant (missense variant)	XFE progeroid syndrome +7 more	GConflicting classifications of pathogenicity
Select item 317816	NM_005236.3(ERCC4):c.1728A>T (p.Arg576Ser)	ERCC4 (R576S)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +3 more	GUncertain significance
Select item 886832	NM_005236.3(ERCC4):c.1740T>G (p.Leu580=)	ERCC4	Single nucleotide variant (synonymous variant)	Cockayne syndrome +2 more	GConflicting classifications of pathogenicity
Select item 541252	NM_005236.3(ERCC4):c.1812-5T>C	ERCC4	Single nucleotide variant (intron variant)	Xeroderma pigmentosum, group F +5 more	GConflicting classifications of pathogenicity
Select item 317817	NM_005236.3(ERCC4):c.1884A>G (p.Glu628=)	ERCC4	Single nucleotide variant (synonymous variant)	ERCC4-related condition +3 more	GBenign
Select item 888104	NM_005236.3(ERCC4):c.1917C>A (p.Ser639Arg)	ERCC4 (S639R)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F	GUncertain significance
Select item 317818	NM_005236.3(ERCC4):c.1942G>A (p.Gly648Ser)	ERCC4 (G648S)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +3 more	GUncertain significance
Select item 134134	NM_005236.3(ERCC4):c.1984T>C (p.Ser662Pro)	ERCC4 (S662P)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +4 more	GBenign
Select item 888105	NM_005236.3(ERCC4):c.2065C>T (p.Arg689Cys)	ERCC4 (R689C)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F	GUncertain significance
Select item 134142	NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr)	ERCC4 (I706T)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +8 more	GConflicting classifications of pathogenicity
Select item 888106	NM_005236.3(ERCC4):c.2178C>T (p.Arg726=)	ERCC4	Single nucleotide variant (synonymous variant)	Cockayne syndrome +2 more	GConflicting classifications of pathogenicity
Select item 317819	NM_005236.3(ERCC4):c.2199C>T (p.Ile733=)	ERCC4	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group F +2 more	GConflicting classifications of pathogenicity
Select item 317820	NM_005236.3(ERCC4):c.2266G>A (p.Val756Met)	ERCC4 (V756M)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +2 more	GUncertain significance
Select item 317821	NM_005236.3(ERCC4):c.2292C>T (p.Ser764=)	ERCC4	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group F +3 more	GConflicting classifications of pathogenicity
Select item 317822	NM_005236.3(ERCC4):c.2334G>C (p.Glu778Asp)	ERCC4 (E778D)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F	GUncertain significance
Select item 16580	NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)	ERCC4 (R799W)	Single nucleotide variant (missense variant)	ERCC4-related condition +8 more	GConflicting classifications of pathogenicity
Select item 240123	NM_005236.3(ERCC4):c.2463A>G (p.Pro821=)	ERCC4	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group F +3 more	GBenign
Select item 317823	NM_005236.3(ERCC4):c.2500G>T (p.Asp834Tyr)	ERCC4 (D834Y)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +2 more	GUncertain significance
Select item 129007	NM_005236.3(ERCC4):c.2505T>C (p.Ser835=)	ERCC4	Single nucleotide variant (synonymous variant)	Cockayne syndrome +5 more	GBenign
Select item 884980	NM_005236.3(ERCC4):c.2514T>C (p.Leu838=)	ERCC4	Single nucleotide variant (synonymous variant)	ERCC4-related condition +3 more	GConflicting classifications of pathogenicity
Select item 317824	NM_005236.3(ERCC4):c.2519A>C (p.Glu840Ala)	ERCC4 (E840A)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F	GUncertain significance
Select item 134138	NM_005236.3(ERCC4):c.2579C>A (p.Ala860Asp)	ERCC4 (A860D)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum +5 more	GConflicting classifications of pathogenicity
Select item 134135	NM_005236.3(ERCC4):c.2617A>G (p.Ile873Val)	ERCC4 (I873V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +5 more	GBenign/Likely benign
Select item 129008	NM_005236.3(ERCC4):c.2624A>G (p.Glu875Gly)	ERCC4 (E875G)	Single nucleotide variant (missense variant)	Cockayne syndrome +5 more	GBenign/Likely benign
Select item 697490	NM_005236.3(ERCC4):c.2647G>A (p.Glu883Lys)	ERCC4 (E883K)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +6 more	GBenign/Likely benign
Select item 259684	NM_005236.3(ERCC4):c.2655G>A (p.Thr885=)	ERCC4	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group Q +5 more	GBenign/Likely benign
Select item 259685	NM_005236.3(ERCC4):c.2724C>T (p.Val908=)	ERCC4	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group F +5 more	GBenign/Likely benign
Select item 259682	NM_005236.3(ERCC4):c.*11C>T	ERCC4	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group F +2 more	GBenign
Select item 885893	NM_005236.3(ERCC4):c.*106A>G	ERCC4	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group F	GUncertain significance
Select item 317825	NM_005236.3(ERCC4):c.*150T>C	ERCC4	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group F	GUncertain significance
Select item 317826	NM_005236.3(ERCC4):c.*192T>C	ERCC4	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group F	GUncertain significance
Select item 886886	NM_005236.3(ERCC4):c.*218A>G	ERCC4	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group F	GUncertain significance
Select item 317828	NM_005236.3(ERCC4):c.*248G>T	ERCC4	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group F	GUncertain significance
Select item 317827	NM_005236.3(ERCC4):c.*248G>A	ERCC4	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group F	GUncertain significance
Select item 317829	NM_005236.3(ERCC4):c.*384A>G	ERCC4	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group F	GUncertain significance
Select item 886887	NM_005236.3(ERCC4):c.*411C>T	ERCC4	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group F	GUncertain significance
Select item 317830	NM_005236.3(ERCC4):c.*484G>T	ERCC4	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group F	GBenign
Select item 317831	NM_005236.3(ERCC4):c.*539G>A	ERCC4	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group F	GUncertain significance
Select item 317832	NM_005236.3(ERCC4):c.*558A>C	ERCC4	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group F	GLikely benign
Select item 888165	NM_005236.3(ERCC4):c.*630C>T	ERCC4	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group F	GUncertain significance
Select item 317833	NM_005236.3(ERCC4):c.*674G>C	ERCC4	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group F	GBenign
Select item 317834	NM_005236.3(ERCC4):c.*675G>T	ERCC4	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group F	GLikely benign
Select item 888166	NM_005236.3(ERCC4):c.*701A>T	ERCC4	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group F	GLikely benign
Select item 888167	NM_005236.3(ERCC4):c.*712A>G	ERCC4	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group F	GUncertain significance
Select item 317835	NM_005236.3(ERCC4):c.*726G>C	ERCC4	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group F	GBenign
Select item 317836	NM_005236.3(ERCC4):c.*745A>G	ERCC4	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group F	GUncertain significance
Select item 317837	NM_005236.3(ERCC4):c.*810G>A	ERCC4	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group F	GBenign
Select item 317838	NM_005236.3(ERCC4):c.*859A>C	ERCC4	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group F	GUncertain significance
Select item 317839	NM_005236.3(ERCC4):c.*875A>G	ERCC4	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group F	GUncertain significance
Select item 317840	NM_005236.3(ERCC4):c.*947T>C	ERCC4	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group F	GLikely benign
Select item 317841	NM_005236.3(ERCC4):c.*971C>G	ERCC4	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group F	GBenign
Select item 885044	NM_005236.3(ERCC4):c.*1056A>G	ERCC4	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group F	GLikely benign
Select item 317842	NM_005236.3(ERCC4):c.*1251T>C	ERCC4	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group F	GUncertain significance
Select item 885045	NM_005236.3(ERCC4):c.*1256G>C	ERCC4	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group F	GUncertain significance
Select item 885956	NM_005236.3(ERCC4):c.*1288G>A	ERCC4	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group F	GUncertain significance
Select item 885957	NM_005236.3(ERCC4):c.*1353G>A	ERCC4	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group F	GLikely benign
Select item 317843	NM_005236.3(ERCC4):c.*1421G>T	ERCC4	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group F	GBenign
Select item 317844	NM_005236.3(ERCC4):c.*1463C>T	ERCC4	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group F	GUncertain significance
Select item 885958	NM_005236.3(ERCC4):c.*1472C>T	ERCC4	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group F	GBenign
Select item 885959	NM_005236.3(ERCC4):c.*1478T>C	ERCC4	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group F	GUncertain significance

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