ClinVar for MedGen (Select 120612) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243523	NC_000016.9:g.(?_14028029)_(14031735_?)del	ERCC4	Deletion	Fanconi anemia complementation group Q +2 more	GPathogenic
Select item 2954405	NM_005236.3(ERCC4):c.561G>A (p.Val187=)	ERCC4	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group F +2 more	GLikely benign
Select item 2953925	NM_005236.3(ERCC4):c.1152G>A (p.Leu384=)	ERCC4	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group F +2 more	GLikely benign
Select item 2952742	NM_005236.3(ERCC4):c.1402del (p.Arg468fs)	ERCC4 (R468fs)	Deletion (frameshift variant)	Xeroderma pigmentosum, group F +2 more	GPathogenic
Select item 2951980	NM_005236.3(ERCC4):c.207+13T>A	ERCC4	Single nucleotide variant (intron variant)	Xeroderma pigmentosum, group F +2 more	GLikely benign
Select item 2950952	NM_005236.3(ERCC4):c.2535T>C (p.Asn845=)	ERCC4	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group F +2 more	GLikely benign
Select item 2950829	NM_005236.3(ERCC4):c.381A>G (p.Leu127=)	ERCC4	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group F +2 more	GLikely benign
Select item 2950797	NM_005236.3(ERCC4):c.2187C>T (p.Ile729=)	ERCC4	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group F +2 more	GLikely benign
Select item 2950066	NM_005236.3(ERCC4):c.2328T>C (p.Phe776=)	ERCC4	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group F +2 more	GLikely benign
Select item 2949822	NM_005236.3(ERCC4):c.2634_2637del (p.Leu879fs)	ERCC4 (L879fs)	Deletion (frameshift variant)	Xeroderma pigmentosum, group F +2 more	GUncertain significance
Select item 2949226	NM_005236.3(ERCC4):c.147C>T (p.Leu49=)	ERCC4, LOC130058543	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group Q +2 more	GLikely benign
Select item 2948514	NM_005236.3(ERCC4):c.2369T>G (p.Leu790Arg)	ERCC4 (L790R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +2 more	GUncertain significance
Select item 2948044	NM_005236.3(ERCC4):c.90C>G (p.Asp30Glu)	ERCC4, LOC130058543 (D30E)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +2 more	GUncertain significance
Select item 2947840	NM_005236.3(ERCC4):c.208-7G>T	ERCC4	Single nucleotide variant (intron variant)	Fanconi anemia complementation group Q +2 more	GLikely benign
Select item 2947341	NM_005236.3(ERCC4):c.1376C>T (p.Ser459Leu)	ERCC4 (S459L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +2 more	GUncertain significance
Select item 2946624	NM_005236.3(ERCC4):c.2191G>A (p.Asp731Asn)	ERCC4 (D731N)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +2 more	GUncertain significance
Select item 2946568	NM_005236.3(ERCC4):c.278C>T (p.Thr93Ile)	ERCC4 (T93I)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +2 more	GUncertain significance
Select item 2946143	NM_005236.3(ERCC4):c.1066A>G (p.Lys356Glu)	ERCC4 (K356E)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +2 more	GUncertain significance
Select item 2946142	NM_005236.3(ERCC4):c.2214C>T (p.Asn738=)	ERCC4	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group Q +2 more	GLikely benign
Select item 2946137	NM_005236.3(ERCC4):c.1214-8A>G	ERCC4	Single nucleotide variant (intron variant)	Fanconi anemia complementation group Q +2 more	GLikely benign
Select item 2945981	NM_005236.3(ERCC4):c.208-19C>G	ERCC4	Single nucleotide variant (intron variant)	Fanconi anemia complementation group Q +2 more	GLikely benign
Select item 2944744	NM_005236.3(ERCC4):c.2050A>G (p.Ile684Val)	ERCC4 (I684V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +2 more	GUncertain significance
Select item 2944559	NM_005236.3(ERCC4):c.1905-4A>G	ERCC4	Single nucleotide variant (intron variant)	Fanconi anemia complementation group Q +2 more	GLikely benign
Select item 2944373	NM_005236.3(ERCC4):c.681T>G (p.Thr227=)	ERCC4	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group Q +2 more	GLikely benign
Select item 2944222	NM_005236.3(ERCC4):c.190A>T (p.Thr64Ser)	LOC130058543, ERCC4 (T64S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +2 more	GUncertain significance
Select item 2943956	NM_005236.3(ERCC4):c.2691T>C (p.Leu897=)	ERCC4	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group Q +2 more	GLikely benign
Select item 2943639	NM_005236.3(ERCC4):c.336G>A (p.Arg112=)	ERCC4	Single nucleotide variant (synonymous variant)	Cockayne syndrome +2 more	GLikely benign
Select item 2943597	NM_005236.3(ERCC4):c.1289C>A (p.Ala430Asp)	ERCC4 (A430D)	Single nucleotide variant (missense variant)	Cockayne syndrome +2 more	GUncertain significance
Select item 2943114	NM_005236.3(ERCC4):c.1903A>C (p.Arg635=)	ERCC4	Single nucleotide variant (synonymous variant)	Cockayne syndrome +2 more	GUncertain significance
Select item 2943096	NM_005236.3(ERCC4):c.73G>C (p.Glu25Gln)	ERCC4, LOC130058543 (E25Q)	Single nucleotide variant (missense variant)	Cockayne syndrome +2 more	GUncertain significance
Select item 2942903	NM_005236.3(ERCC4):c.449G>C (p.Arg150Pro)	ERCC4 (R150P)	Single nucleotide variant (missense variant)	Cockayne syndrome +2 more	GUncertain significance
Select item 2941781	NM_005236.3(ERCC4):c.165A>G (p.Pro55=)	ERCC4, LOC130058543	Single nucleotide variant (synonymous variant)	Cockayne syndrome +2 more	GLikely benign
Select item 2941664	NM_005236.3(ERCC4):c.661A>G (p.Thr221Ala)	ERCC4 (T221A)	Single nucleotide variant (missense variant)	Cockayne syndrome +2 more	GUncertain significance
Select item 2940679	NM_005236.3(ERCC4):c.1002G>A (p.Ser334=)	ERCC4	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group Q +2 more	GLikely benign
Select item 2940595	NM_005236.3(ERCC4):c.2706C>T (p.His902=)	ERCC4	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group Q +2 more	GLikely benign
Select item 2940298	NM_005236.3(ERCC4):c.2419C>A (p.His807Asn)	ERCC4 (H807N)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +2 more	GUncertain significance
Select item 2940159	NM_005236.3(ERCC4):c.412A>C (p.Arg138=)	ERCC4	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group Q +2 more	GLikely benign
Select item 2940114	NM_005236.3(ERCC4):c.262G>A (p.Val88Ile)	ERCC4 (V88I)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +2 more	GUncertain significance
Select item 2940005	NM_005236.3(ERCC4):c.846A>G (p.Lys282=)	ERCC4	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group Q +2 more	GLikely benign
Select item 2939065	NM_005236.3(ERCC4):c.2227A>G (p.Ser743Gly)	ERCC4 (S743G)	Single nucleotide variant (missense variant)	Cockayne syndrome +2 more	GUncertain significance
Select item 2937652	NM_005236.3(ERCC4):c.1380G>A (p.Lys460=)	ERCC4	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group F +2 more	GLikely benign
Select item 2937115	NM_005236.3(ERCC4):c.388+20_388+25del	ERCC4	Microsatellite (intron variant)	Xeroderma pigmentosum, group F +2 more	GLikely benign
Select item 2936586	NM_005236.3(ERCC4):c.2635C>T (p.Leu879=)	ERCC4	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group F +2 more	GLikely benign
Select item 2936264	NM_005236.3(ERCC4):c.247C>T (p.His83Tyr)	ERCC4 (H83Y)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +2 more	GUncertain significance
Select item 2935669	NM_005236.3(ERCC4):c.303C>T (p.Tyr101=)	ERCC4	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group F +2 more	GLikely benign
Select item 2935414	NM_005236.3(ERCC4):c.2403C>T (p.Leu801=)	ERCC4	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group Q +2 more	GLikely benign
Select item 2935343	NM_005236.3(ERCC4):c.129G>A (p.Arg43=)	LOC130058543, ERCC4	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group Q +2 more	GLikely benign
Select item 2934170	NM_005236.3(ERCC4):c.355T>C (p.Leu119=)	ERCC4	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group Q +2 more	GLikely benign
Select item 2933704	NM_005236.3(ERCC4):c.1102+14T>C	ERCC4	Single nucleotide variant (intron variant)	Fanconi anemia complementation group Q +2 more	GLikely benign
Select item 2933659	NM_005236.3(ERCC4):c.1812-6A>G	ERCC4	Single nucleotide variant (intron variant)	Xeroderma pigmentosum, group F +2 more	GLikely benign
Select item 2933230	NM_005236.3(ERCC4):c.1630T>C (p.Phe544Leu)	ERCC4 (F544L)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +2 more	GUncertain significance
Select item 2933213	NM_005236.3(ERCC4):c.314G>C (p.Gly105Ala)	ERCC4 (G105A)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +2 more	GUncertain significance
Select item 2932989	NM_005236.3(ERCC4):c.1840A>G (p.Thr614Ala)	ERCC4 (T614A)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +2 more	GUncertain significance
Select item 2932823	NM_005236.3(ERCC4):c.2585A>G (p.Asn862Ser)	ERCC4 (N862S)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +2 more	GUncertain significance
Select item 2932701	NM_005236.3(ERCC4):c.148C>T (p.Gln50Ter)	ERCC4, LOC130058543 (Q50*)	Single nucleotide variant (nonsense)	Xeroderma pigmentosum, group F +2 more	GPathogenic
Select item 2932346	NM_005236.3(ERCC4):c.793-18A>G	ERCC4	Single nucleotide variant (intron variant)	Xeroderma pigmentosum, group F +2 more	GLikely benign
Select item 2932257	NM_005236.3(ERCC4):c.1400A>G (p.Lys467Arg)	ERCC4 (K467R)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +2 more	GUncertain significance
Select item 2932127	NM_005236.3(ERCC4):c.1767G>A (p.Arg589=)	ERCC4	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group F +2 more	GLikely benign
Select item 2931871	NM_005236.3(ERCC4):c.849_856del (p.Leu284fs)	ERCC4 (L284fs)	Deletion (frameshift variant)	Xeroderma pigmentosum, group F +2 more	GPathogenic
Select item 2931754	NM_005236.3(ERCC4):c.2277T>G (p.Ile759Met)	ERCC4 (I759M)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +2 more	GUncertain significance
Select item 2931673	NM_005236.3(ERCC4):c.1900A>G (p.Ile634Val)	ERCC4 (I634V)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +2 more	GUncertain significance
Select item 2931654	NM_005236.3(ERCC4):c.886C>T (p.Gln296Ter)	ERCC4 (Q296*)	Single nucleotide variant (nonsense)	Xeroderma pigmentosum, group F +2 more	GPathogenic
Select item 2931641	NM_005236.3(ERCC4):c.293A>G (p.Tyr98Cys)	ERCC4 (Y98C)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +2 more	GUncertain significance
Select item 2931256	NM_005236.3(ERCC4):c.938dup (p.Arg314fs)	ERCC4 (R314fs)	Duplication (frameshift variant)	Xeroderma pigmentosum, group F +2 more	GPathogenic
Select item 2930775	NM_005236.3(ERCC4):c.158G>A (p.Cys53Tyr)	ERCC4, LOC130058543 (C53Y)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +2 more	GUncertain significance
Select item 2930590	NM_005236.3(ERCC4):c.820T>C (p.Trp274Arg)	ERCC4 (W274R)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +2 more	GUncertain significance
Select item 2930494	NM_005236.3(ERCC4):c.421G>A (p.Glu141Lys)	ERCC4 (E141K)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +2 more	GUncertain significance
Select item 2930488	NM_005236.3(ERCC4):c.389-5C>A	ERCC4	Single nucleotide variant (intron variant)	Xeroderma pigmentosum, group F +2 more	GLikely benign
Select item 2930438	NM_005236.3(ERCC4):c.811G>T (p.Asp271Tyr)	ERCC4 (D271Y)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +2 more	GUncertain significance
Select item 2930427	NM_005236.3(ERCC4):c.1371C>T (p.Asp457=)	ERCC4	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group F +2 more	GLikely benign
Select item 2929879	NM_005236.3(ERCC4):c.1811+9T>A	ERCC4	Single nucleotide variant (intron variant)	Xeroderma pigmentosum, group F +2 more	GLikely benign
Select item 2929691	NM_005236.3(ERCC4):c.1404A>C (p.Arg468Ser)	ERCC4 (R468S)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +2 more	GUncertain significance
Select item 2929687	NM_005236.3(ERCC4):c.2110A>G (p.Ile704Val)	ERCC4 (I704V)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +2 more	GUncertain significance
Select item 2929665	NM_005236.3(ERCC4):c.2670T>C (p.Asn890=)	ERCC4	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group F +2 more	GLikely benign
Select item 2929573	NM_005236.3(ERCC4):c.652A>G (p.Met218Val)	ERCC4 (M218V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +2 more	GUncertain significance
Select item 2929491	NM_005236.3(ERCC4):c.2097C>A (p.Ile699=)	ERCC4	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group Q +2 more	GLikely benign
Select item 2929314	NM_005236.3(ERCC4):c.1204G>C (p.Gly402Arg)	ERCC4 (G402R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +2 more	GUncertain significance
Select item 2929148	NM_005236.3(ERCC4):c.2471A>T (p.Asp824Val)	ERCC4 (D824V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +2 more	GUncertain significance
Select item 2929022	NM_005236.3(ERCC4):c.306A>G (p.Thr102=)	ERCC4	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group Q +2 more	GLikely benign
Select item 2928951	NM_005236.3(ERCC4):c.1376C>A (p.Ser459Ter)	ERCC4 (S459*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group Q +2 more	GPathogenic
Select item 2928403	NM_005236.3(ERCC4):c.1599A>G (p.Glu533=)	ERCC4	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group Q +2 more	GLikely benign
Select item 2928352	NM_005236.3(ERCC4):c.1693G>A (p.Ala565Thr)	ERCC4 (A565T)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +2 more	GUncertain significance
Select item 2927827	NM_005236.3(ERCC4):c.2697T>C (p.Asp899=)	ERCC4	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group Q +2 more	GLikely benign
Select item 2927537	NM_005236.3(ERCC4):c.792+7T>C	ERCC4	Single nucleotide variant (intron variant)	Fanconi anemia complementation group Q +2 more	GLikely benign
Select item 2927145	NM_005236.3(ERCC4):c.81C>T (p.Leu27=)	ERCC4, LOC130058543	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group Q +2 more	GLikely benign
Select item 2927079	NM_005236.3(ERCC4):c.856C>T (p.Gln286Ter)	ERCC4 (Q286*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group Q +2 more	GPathogenic
Select item 2926921	NM_005236.3(ERCC4):c.848C>A (p.Ser283Tyr)	ERCC4 (S283Y)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +2 more	GUncertain significance
Select item 2926750	NM_005236.3(ERCC4):c.2524G>T (p.Glu842Ter)	ERCC4 (E842*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group Q +2 more	GUncertain significance
Select item 2926445	NM_005236.3(ERCC4):c.363T>C (p.Asp121=)	ERCC4	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group Q +2 more	GLikely benign
Select item 2926424	NM_005236.3(ERCC4):c.1732G>A (p.Val578Met)	ERCC4 (V578M)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +2 more	GUncertain significance
Select item 2926341	NM_005236.3(ERCC4):c.585-18A>C	ERCC4	Single nucleotide variant (intron variant)	Fanconi anemia complementation group Q +2 more	GLikely benign
Select item 2926212	NM_005236.3(ERCC4):c.1811+16T>C	ERCC4	Single nucleotide variant (intron variant)	Fanconi anemia complementation group Q +2 more	GLikely benign
Select item 2926133	NM_005236.3(ERCC4):c.730A>C (p.Asn244His)	ERCC4 (N244H)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +2 more	GUncertain significance
Select item 2925705	NM_005236.3(ERCC4):c.1788G>C (p.Ala596=)	ERCC4	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group Q +2 more	GLikely benign
Select item 2925173	NM_005236.3(ERCC4):c.388+15T>C	ERCC4	Single nucleotide variant (intron variant)	Fanconi anemia complementation group Q +2 more	GLikely benign
Select item 2924980	NM_005236.3(ERCC4):c.1828T>C (p.Tyr610His)	ERCC4 (Y610H)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +2 more	GUncertain significance
Select item 2924708	NM_005236.3(ERCC4):c.1650C>T (p.Pro550=)	ERCC4	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group Q +2 more	GLikely benign
Select item 2924700	NM_005236.3(ERCC4):c.1902A>G (p.Ile634Met)	ERCC4 (I634M)	Single nucleotide variant (missense variant)	XFE progeroid syndrome +3 more	GConflicting classifications of pathogenicity
Select item 2924527	NM_005236.3(ERCC4):c.1213+11dup	ERCC4	Duplication (intron variant)	Fanconi anemia complementation group Q +2 more	GBenign
Select item 2924233	NM_005236.3(ERCC4):c.2656A>G (p.Ser886Gly)	ERCC4 (S886G)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +2 more	GUncertain significance

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