1294[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 221382	GRCh38/hg38 3p21.31(chr3:48562955-48587488)x1	COL7A1, MIR711 +2 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 903069	NM_000094.4(COL7A1):c.*270G>T	COL7A1	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa dystrophica	GUncertain significance
Select item 903070	NM_000094.4(COL7A1):c.*216G>C	COL7A1	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa dystrophica	GBenign
Select item 899446	NM_000094.4(COL7A1):c.*162C>A	COL7A1	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa dystrophica	GUncertain significance
Select item 899445	NM_000094.4(COL7A1):c.*162C>T	COL7A1	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa dystrophica	GLikely benign
Select item 345787	NM_000094.4(COL7A1):c.*105C>T	COL7A1	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa dystrophica	GUncertain significance
Select item 899447	NM_000094.4(COL7A1):c.*87G>A	COL7A1	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa dystrophica	GUncertain significance
Select item 345788	NM_000094.4(COL7A1):c.*65T>C	COL7A1	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa dystrophica	GBenign
Select item 345789	NM_000094.4(COL7A1):c.*40A>T	COL7A1	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa dystrophica	GUncertain significance
Select item 2856125	NM_000094.4(COL7A1):c.8834G>A (p.Ter2945=)	COL7A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1415311	NM_000094.4(COL7A1):c.8824G>T (p.Ala2942Ser)	COL7A1 (A2942S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 729714	NM_000094.4(COL7A1):c.8819-3C>T	COL7A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1640306	NM_000094.4(COL7A1):c.8819-6C>T	COL7A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2765829	NM_000094.4(COL7A1):c.8819-8C>G	COL7A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2863886	NM_000094.4(COL7A1):c.8819-9C>T	COL7A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2191309	NM_000094.4(COL7A1):c.8819-18C>A	COL7A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2415810	NM_000094.4(COL7A1):c.8818+20C>T	COL7A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2732870	NM_000094.4(COL7A1):c.8818+17C>G	COL7A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2916287	NM_000094.4(COL7A1):c.8818+14C>A	COL7A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1096405	NM_000094.4(COL7A1):c.8818+10G>T	COL7A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2100137	NM_000094.4(COL7A1):c.8818+9T>C	COL7A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2157818	NM_000094.4(COL7A1):c.8818+4T>G	COL7A1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1440366	NM_000094.4(COL7A1):c.8818+2T>A	COL7A1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 989691	NM_000094.4(COL7A1):c.8817A>G (p.Thr2939=)	COL7A1	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa dystrophica inversa, autosomal recessive	GUncertain significance
Select item 1589369	NM_000094.4(COL7A1):c.8814G>A (p.Gly2938=)	COL7A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1907888	NM_000094.4(COL7A1):c.8809C>G (p.Gln2937Glu)	COL7A1 (Q2937E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2149978	NM_000094.4(COL7A1):c.8808C>G (p.Ser2936Arg)	COL7A1 (S2936R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2778540	NM_000094.4(COL7A1):c.8807G>T (p.Ser2936Ile)	COL7A1 (S2936I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 998085	NM_000094.4(COL7A1):c.8803C>T (p.Gln2935Ter)	COL7A1 (Q2935*)	Single nucleotide variant (nonsense)	Epidermolysis bullosa pruriginosa +1 more	GConflicting classifications of pathogenicity
Select item 2804612	NM_000094.4(COL7A1):c.8802C>T (p.Val2934=)	COL7A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 989692	NM_000094.4(COL7A1):c.8800G>T (p.Val2934Phe)	COL7A1 (V2934F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2084411	NM_000094.4(COL7A1):c.8797G>C (p.Val2933Leu)	COL7A1 (V2933L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2751419	NM_000094.4(COL7A1):c.8796G>A (p.Arg2932=)	COL7A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2120170	NM_000094.4(COL7A1):c.8796G>T (p.Arg2932=)	COL7A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2155735	NM_000094.4(COL7A1):c.8794C>T (p.Arg2932Trp)	COL7A1 (R2932W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2153300	NM_000094.4(COL7A1):c.8793C>T (p.Pro2931=)	COL7A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 721614	NM_000094.4(COL7A1):c.8791C>T (p.Pro2931Ser)	COL7A1 (P2931S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2125717	NM_000094.4(COL7A1):c.8790A>T (p.Pro2930=)	COL7A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2783604	NM_000094.4(COL7A1):c.8786G>T (p.Cys2929Phe)	COL7A1 (C2929F)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 899448	NM_000094.4(COL7A1):c.8783G>A (p.Arg2928His)	COL7A1 (R2928H)	Single nucleotide variant (missense variant)	Epidermolysis bullosa dystrophica +1 more	GConflicting classifications of pathogenicity
Select item 2424407	NM_000094.4(COL7A1):c.8782C>T (p.Arg2928Cys)	COL7A1 (R2928C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1687653	NM_000094.4(COL7A1):c.8780G>A (p.Arg2927His)	COL7A1 (R2927H)	Single nucleotide variant (missense variant)	Pretibial dystrophic epidermolysis bullosa +7 more	GConflicting classifications of pathogenicity
Select item 899449	NM_000094.4(COL7A1):c.8779C>T (p.Arg2927Cys)	COL7A1 (R2927C)	Single nucleotide variant (missense variant)	Epidermolysis bullosa dystrophica +1 more	GConflicting classifications of pathogenicity
Select item 2705555	NM_000094.4(COL7A1):c.8777A>T (p.Glu2926Val)	COL7A1 (E2926V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2653793	NM_000094.4(COL7A1):c.8770G>A (p.Ala2924Thr)	COL7A1 (A2924T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1564295	NM_000094.4(COL7A1):c.8769G>A (p.Glu2923=)	COL7A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1534169	NM_000094.4(COL7A1):c.8763C>G (p.Thr2921=)	COL7A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1948592	NM_000094.4(COL7A1):c.8761A>G (p.Thr2921Ala)	COL7A1 (T2921A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2734494	NM_000094.4(COL7A1):c.8760del (p.Thr2921fs)	COL7A1 (T2921fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1143531	NM_000094.4(COL7A1):c.8760G>A (p.Gly2920=)	COL7A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2179697	NM_000094.4(COL7A1):c.8759G>A (p.Gly2920Glu)	COL7A1 (G2920E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2909040	NM_000094.4(COL7A1):c.8757T>C (p.Phe2919=)	COL7A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015454	NM_000094.4(COL7A1):c.8756T>C (p.Phe2919Ser)	COL7A1 (F2919S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2154690	NM_000094.4(COL7A1):c.8752C>T (p.Arg2918Cys)	COL7A1 (R2918C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2706977	NM_000094.4(COL7A1):c.8749A>G (p.Asn2917Asp)	COL7A1 (N2917D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1899457	NM_000094.4(COL7A1):c.8748C>T (p.Ala2916=)	COL7A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1910667	NM_000094.4(COL7A1):c.8747C>T (p.Ala2916Val)	COL7A1 (A2916V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2715166	NM_000094.4(COL7A1):c.8745T>C (p.Asn2915=)	COL7A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2713591	NM_000094.4(COL7A1):c.8732G>A (p.Gly2911Asp)	COL7A1 (G2911D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1466410	NM_000094.4(COL7A1):c.8726A>G (p.Tyr2909Cys)	COL7A1 (Y2909C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1047954	NM_000094.4(COL7A1):c.8717del (p.Pro2906fs)	COL7A1 (P2906fs)	Deletion (frameshift variant)	Epidermolysis bullosa dystrophica	GPathogenic
Select item 2086318	NM_000094.4(COL7A1):c.8716C>G (p.Pro2906Ala)	COL7A1 (P2906A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2848957	NM_000094.4(COL7A1):c.8694_8715del (p.Gly2899fs)	COL7A1 (G2899fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2733224	NM_000094.4(COL7A1):c.8712T>A (p.Cys2904Ter)	COL7A1 (C2904*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1146579	NM_000094.4(COL7A1):c.8709C>T (p.Ala2903=)	COL7A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1114241	NM_000094.4(COL7A1):c.8709C>G (p.Ala2903=)	COL7A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2203351	NM_000094.4(COL7A1):c.8698_8708del (p.Ser2900fs)	COL7A1 (S2900fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2176832	NM_000094.4(COL7A1):c.8707G>A (p.Ala2903Thr)	COL7A1 (A2903T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1452614	NM_000094.4(COL7A1):c.8707del (p.Ala2903fs)	COL7A1 (A2903fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2840752	NM_000094.4(COL7A1):c.8704del (p.Glu2902fs)	COL7A1 (E2902fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2013390	NM_000094.4(COL7A1):c.8685G>A (p.Arg2895=)	COL7A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1609094	NM_000094.4(COL7A1):c.8685G>T (p.Arg2895=)	COL7A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1481543	NM_000094.4(COL7A1):c.8684G>C (p.Arg2895Pro)	COL7A1 (R2895P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1177512	NM_000094.4(COL7A1):c.8684G>A (p.Arg2895Gln)	COL7A1 (R2895Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 933251	NM_000094.4(COL7A1):c.8679C>G (p.Tyr2893Ter)	COL7A1 (Y2893*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1419019	NM_000094.4(COL7A1):c.8676G>T (p.Trp2892Cys)	COL7A1 (W2892C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2033331	NM_000094.4(COL7A1):c.8673C>T (p.Arg2891=)	COL7A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2418100	NM_000094.4(COL7A1):c.8671C>T (p.Arg2891Cys)	COL7A1 (R2891C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2772677	NM_000094.4(COL7A1):c.8670G>A (p.Leu2890=)	COL7A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1535570	NM_000094.4(COL7A1):c.8668C>T (p.Leu2890=)	COL7A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896538	NM_000094.4(COL7A1):c.8662_8667del (p.Tyr2888_Thr2889del)	COL7A1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2035930	NM_000094.4(COL7A1):c.8667C>T (p.Thr2889=)	COL7A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1591996	NM_000094.4(COL7A1):c.8667C>G (p.Thr2889=)	COL7A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2179706	NM_000094.4(COL7A1):c.8666C>T (p.Thr2889Ile)	COL7A1 (T2889I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2028840	NM_000094.4(COL7A1):c.8664del (p.Ala2887_Tyr2888insTer)	COL7A1	Deletion (nonsense)	not provided	GPathogenic
Select item 1083568	NM_000094.4(COL7A1):c.8664C>T (p.Tyr2888=)	COL7A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1099431	NM_000094.4(COL7A1):c.8661C>T (p.Ala2887=)	COL7A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1507793	NM_000094.4(COL7A1):c.8657C>T (p.Thr2886Ile)	COL7A1 (T2886I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1496972	NM_000094.4(COL7A1):c.8654G>A (p.Cys2885Tyr)	COL7A1 (C2885Y)	Single nucleotide variant (missense variant)	COL7A1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1952549	NM_000094.4(COL7A1):c.8647G>A (p.Gly2883Ser)	COL7A1 (G2883S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1062028	NM_000094.4(COL7A1):c.8635C>T (p.Pro2879Ser)	COL7A1 (P2879S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2860760	NM_000094.4(COL7A1):c.8634G>A (p.Leu2878=)	COL7A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 345790	NM_000094.4(COL7A1):c.8631C>A (p.Ser2877=)	COL7A1	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa dystrophica	GUncertain significance
Select item 2143364	NM_000094.4(COL7A1):c.8626T>C (p.Cys2876Arg)	COL7A1 (C2876R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2755905	NM_000094.4(COL7A1):c.8621-3del	COL7A1	Deletion (intron variant)	not provided	GLikely benign
Select item 1619731	NM_000094.4(COL7A1):c.8621-5C>A	COL7A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1591245	NM_000094.4(COL7A1):c.8621-5C>T	COL7A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1566919	NM_000094.4(COL7A1):c.8621-9T>C	COL7A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975961	NM_000094.4(COL7A1):c.8621-10A>G	COL7A1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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