Related gene-specific medical variations for Gene (Select 1294) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362468	NM_000094.4(COL7A1):c.520+5G>A	COL7A1	Single nucleotide variant (intron variant)	Recessive dystrophic epidermolysis bullosa	GUncertain significance
Select item 3361691	NM_000094.4(COL7A1):c.8219_8226+1delinsAC	COL7A1	Indel (splice donor variant)	not provided	GPathogenic
Select item 3341128	NM_000094.4(COL7A1):c.6236G>A (p.Gly2079Glu)	COL7A1 (G2079E)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3341125	NM_000094.4(COL7A1):c.6698G>A (p.Gly2233Asp)	COL7A1 (G2233D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3257728	NM_000094.4(COL7A1):c.3474del (p.Gly1159_Val1160insTer)	COL7A1	Deletion (frameshift variant +1 more)	Recessive dystrophic epidermolysis bullosa	GLikely pathogenic
Select item 3246955	NC_000003.11:g.(?_48609446)_(48618853_?)del	COL7A1	Deletion	not provided	GPathogenic
Select item 3246954	NC_000003.11:g.(?_48615911)_(48620525_?)del	COL7A1	Deletion	not provided	GPathogenic
Select item 3246953	NC_000003.11:g.(?_48627960)_(48631079_?)del	COL7A1	Deletion	not provided	GPathogenic
Select item 3246952	NC_000003.11:g.(?_48605912)_(48607368_?)del	COL7A1	Deletion	not provided	GPathogenic
Select item 3246951	NC_000003.11:g.(?_48605912)_(48607213_?)del	COL7A1	Deletion	not provided	GPathogenic
Select item 3242243	NM_000094.4(COL7A1):c.4990G>A (p.Gly1664Arg)	COL7A1 (G1664R)	Single nucleotide variant (missense variant)	Recessive dystrophic epidermolysis bullosa	GLikely pathogenic
Select item 3238837	NM_000094.4(COL7A1):c.7025G>A (p.Gly2342Asp)	COL7A1 (G2342D)	Single nucleotide variant (missense variant)	Recessive dystrophic epidermolysis bullosa	GLikely pathogenic
Select item 3068227	NM_000094.4(COL7A1):c.3637TTC[1] (p.Phe1214del)	COL7A1 (F1214del)	Microsatellite (inframe_deletion)	Recessive dystrophic epidermolysis bullosa	GUncertain significance
Select item 3065521	NM_000094.4(COL7A1):c.6246_6254del (p.Thr2083_Gly2085del)	COL7A1	Deletion (inframe_deletion)	Recessive dystrophic epidermolysis bullosa	GUncertain significance
Select item 3065440	NM_000094.4(COL7A1):c.4466G>A (p.Gly1489Asp)	COL7A1 (G1489D)	Single nucleotide variant (missense variant)	Recessive dystrophic epidermolysis bullosa	GLikely pathogenic
Select item 3065186	NM_000094.4(COL7A1):c.7733G>C (p.Gly2578Ala)	COL7A1 (G2578A)	Single nucleotide variant (missense variant)	Recessive dystrophic epidermolysis bullosa	GUncertain significance
Select item 3064926	NM_000094.4(COL7A1):c.4959del (p.Ala1654fs)	COL7A1 (A1654fs)	Deletion (frameshift variant)	Recessive dystrophic epidermolysis bullosa	GUncertain significance
Select item 3064448	NM_000094.4(COL7A1):c.8359-16G>A	COL7A1	Single nucleotide variant (intron variant)	Recessive dystrophic epidermolysis bullosa	GUncertain significance
Select item 3062272	NM_000094.4(COL7A1):c.4782+1G>A	COL7A1	Single nucleotide variant (splice donor variant)	Recessive dystrophic epidermolysis bullosa	GLikely pathogenic
Select item 3062266	NM_000094.4(COL7A1):c.4350_4351del (p.Glu1451fs)	COL7A1 (E1451fs)	Deletion (frameshift variant)	Recessive dystrophic epidermolysis bullosa	GLikely pathogenic
Select item 3062264	NM_000094.4(COL7A1):c.5053-5_5055dup	COL7A1	Duplication (splice acceptor variant)	Recessive dystrophic epidermolysis bullosa	GLikely pathogenic
Select item 3062232	NM_000094.4(COL7A1):c.6209G>T (p.Gly2070Val)	COL7A1 (G2070V)	Single nucleotide variant (missense variant)	Generalized dominant dystrophic epidermolysis bullosa	GLikely pathogenic
Select item 3010132	NM_000094.4(COL7A1):c.5424+7G>A	COL7A1, MIR711	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2875901	NM_000094.4(COL7A1):c.5389-8C>G	COL7A1, MIR711	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2873584	NM_000094.4(COL7A1):c.5424+11G>C	COL7A1, MIR711	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2757348	NM_000094.4(COL7A1):c.5409G>T (p.Gly1803=)	COL7A1, MIR711	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2730525	NM_000094.4(COL7A1):c.5424+3A>G	COL7A1, MIR711	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2576192	NM_000094.4(COL7A1):c.3746T>C (p.Val1249Ala)	COL7A1 (V1249A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576095	NM_000094.4(COL7A1):c.7228G>A (p.Gly2410Ser)	COL7A1 (G2410S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2573362	NM_000094.4(COL7A1):c.5389-2_5389-1del	COL7A1, MIR711	Deletion (non-coding transcript variant +1 more)	COL7A1-related disorder	GLikely pathogenic
Select item 2507394	NM_000094.4(COL7A1):c.6110G>T (p.Gly2037Val)	COL7A1 (G2037V)	Single nucleotide variant (missense variant)	Generalized dominant dystrophic epidermolysis bullosa	GPathogenic
Select item 2440495	NM_000094.4(COL7A1):c.1242C>A (p.Asp414Glu)	COL7A1 (D414E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439485	NM_000094.4(COL7A1):c.3188_3189dup (p.Asp1064fs)	COL7A1 (D1064fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2439476	NM_000094.4(COL7A1):c.457C>T (p.Gln153Ter)	COL7A1 (Q153*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2058108	NM_000094.4(COL7A1):c.5424+8A>T	COL7A1, MIR711	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1686592	NM_000094.4(COL7A1):c.5413C>T (p.Pro1805Ser)	COL7A1, MIR711 (P1805S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GUncertain significance
Select item 1676656	NM_000094.4(COL7A1):c.8236G>C (p.Gly2746Arg)	COL7A1 (G2746R)	Single nucleotide variant	Generalized dominant dystrophic epidermolysis bullosa	GUncertain significance
Select item 1676655	NM_000094.4(COL7A1):c.7877G>A (p.Gly2626Asp)	COL7A1 (G2626D)	Single nucleotide variant	Generalized dominant dystrophic epidermolysis bullosa	GPathogenic
Select item 1676654	NM_000094.4(COL7A1):c.7876G>A (p.Gly2626Ser)	COL7A1 (G2626S)	Single nucleotide variant	Generalized dominant dystrophic epidermolysis bullosa	GLikely pathogenic
Select item 1676653	NM_000094.4(COL7A1):c.6235_6236delinsAA (p.Gly2079Lys)	COL7A1 (G2079K)	Indel	Generalized dominant dystrophic epidermolysis bullosa	GLikely pathogenic
Select item 1676652	NM_000094.4(COL7A1):c.6697G>A (p.Gly2233Ser)	COL7A1 (G2233S)	Single nucleotide variant	not provided +3 more	GPathogenic
Select item 1676651	NM_000094.4(COL7A1):c.6209G>A (p.Gly2070Glu)	COL7A1 (G2070E)	Single nucleotide variant	Generalized dominant dystrophic epidermolysis bullosa	GPathogenic
Select item 1676650	NM_000094.4(COL7A1):c.6191G>A (p.Gly2064Glu)	COL7A1 (G2064E)	Single nucleotide variant	not provided +1 more	GPathogenic
Select item 1676649	NM_000094.4(COL7A1):c.6136G>A (p.Gly2046Ser)	COL7A1 (G2046S)	Single nucleotide variant	Generalized dominant dystrophic epidermolysis bullosa	GPathogenic
Select item 1676648	NM_000094.4(COL7A1):c.6035G>A (p.Gly2012Asp)	COL7A1 (G2012D)	Single nucleotide variant	not provided +1 more	GPathogenic
Select item 1676647	NM_000094.4(COL7A1):c.6025G>A (p.Gly2009Arg)	COL7A1 (G2009R)	Single nucleotide variant	not provided +1 more	GPathogenic
Select item 1676646	NM_000094.4(COL7A1):c.6016G>A (p.Gly2006Ser)	COL7A1 (G2006S)	Single nucleotide variant	Generalized dominant dystrophic epidermolysis bullosa	GPathogenic
Select item 1676645	NM_000094.4(COL7A1):c.6008G>A (p.Gly2003Glu)	COL7A1 (G2003E)	Single nucleotide variant	not provided +1 more	GPathogenic
Select item 1676644	NM_000094.4(COL7A1):c.5772G>A (p.Gln1924=)	COL7A1	Single nucleotide variant	Generalized dominant dystrophic epidermolysis bullosa	GUncertain significance
Select item 1676643	NM_000094.4(COL7A1):c.5765G>A (p.Gly1922Glu)	COL7A1 (G1922E)	Single nucleotide variant	Generalized dominant dystrophic epidermolysis bullosa	GLikely pathogenic
Select item 1676642	NM_000094.4(COL7A1):c.5318G>A (p.Gly1773Asp)	COL7A1 (G1773D)	Single nucleotide variant	Generalized dominant dystrophic epidermolysis bullosa	GPathogenic
Select item 1676641	NM_000094.4(COL7A1):c.5099G>T (p.Gly1700Val)	COL7A1 (G1700V)	Single nucleotide variant	Generalized dominant dystrophic epidermolysis bullosa	GLikely pathogenic
Select item 1676640	NM_000094.4(COL7A1):c.4601G>A (p.Gly1534Glu)	COL7A1 (G1534E)	Single nucleotide variant	Generalized dominant dystrophic epidermolysis bullosa	GLikely pathogenic
Select item 1676638	NM_000094.4(COL7A1):c.8729G>T (p.Gly2910Val)	COL7A1 (G2910V)	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1676637	NM_000094.4(COL7A1):c.8244del (p.Gly2749fs)	COL7A1 (G2749fs)	Deletion	Recessive dystrophic epidermolysis bullosa	GPathogenic
Select item 1676636	NM_000094.4(COL7A1):c.8200G>C (p.Gly2734Arg)	COL7A1 (G2734R)	Single nucleotide variant	Recessive dystrophic epidermolysis bullosa	GLikely pathogenic
Select item 1676635	NM_000094.4(COL7A1):c.80A>T (p.Glu27Val)	COL7A1 (E27V)	Single nucleotide variant	Recessive dystrophic epidermolysis bullosa	GUncertain significance
Select item 1676634	NM_000094.4(COL7A1):c.8046+3A>T	COL7A1	Single nucleotide variant	Recessive dystrophic epidermolysis bullosa	GUncertain significance
Select item 1676631	NM_000094.4(COL7A1):c.7017C>T (p.Gly2339=)	COL7A1	Single nucleotide variant	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1676630	NM_000094.4(COL7A1):c.6832G>C (p.Gly2278Arg)	COL7A1 (G2278R)	Single nucleotide variant	Recessive dystrophic epidermolysis bullosa	GUncertain significance
Select item 1676629	NM_000094.4(COL7A1):c.6733G>A (p.Gly2245Ser)	COL7A1 (G2245S)	Single nucleotide variant	Recessive dystrophic epidermolysis bullosa	GPathogenic
Select item 1676628	NM_000094.4(COL7A1):c.6647G>A (p.Gly2216Glu)	COL7A1 (G2216E)	Single nucleotide variant	not provided +1 more	GPathogenic
Select item 1676627	NM_000094.4(COL7A1):c.6573+5G>A	COL7A1	Single nucleotide variant	Recessive dystrophic epidermolysis bullosa	GPathogenic
Select item 1676626	NM_000094.4(COL7A1):c.6073G>A (p.Gly2025Ser)	COL7A1 (G2025S)	Single nucleotide variant	Recessive dystrophic epidermolysis bullosa	GPathogenic
Select item 1676625	NM_000094.4(COL7A1):c.5679del (p.Pro1894fs)	COL7A1 (P1894fs)	Deletion	Recessive dystrophic epidermolysis bullosa	GPathogenic
Select item 1676624	NM_000094.4(COL7A1):c.5669G>T (p.Gly1890Val)	COL7A1 (G1890V)	Single nucleotide variant	Recessive dystrophic epidermolysis bullosa	GUncertain significance
Select item 1676623	NM_000094.4(COL7A1):c.4999G>T (p.Gly1667Trp)	COL7A1 (G1667W)	Single nucleotide variant	Recessive dystrophic epidermolysis bullosa	GUncertain significance
Select item 1676622	NM_000094.4(COL7A1):c.4827_4834del (p.Gly1610fs)	COL7A1 (G1610fs)	Deletion	Recessive dystrophic epidermolysis bullosa	GPathogenic
Select item 1676620	NM_000094.4(COL7A1):c.4583G>A (p.Gly1528Asp)	COL7A1 (G1528D)	Single nucleotide variant	Recessive dystrophic epidermolysis bullosa	GUncertain significance
Select item 1676618	NM_000094.4(COL7A1):c.3545_3550del (p.Ala1182_Ser1183del)	COL7A1	Deletion	Recessive dystrophic epidermolysis bullosa	GUncertain significance
Select item 1676617	NM_000094.4(COL7A1):c.329_332dup (p.Ser111_Tyr112insTer)	COL7A1	Duplication	Recessive dystrophic epidermolysis bullosa +1 more	GPathogenic
Select item 1676615	NM_000094.4(COL7A1):c.1507+4A>T	COL7A1	Single nucleotide variant	Recessive dystrophic epidermolysis bullosa	GLikely pathogenic
Select item 1676614	NM_000094.4(COL7A1):c.8416_8417del (p.Gly2806fs)	COL7A1 (G2806fs)	Deletion	Recessive dystrophic epidermolysis bullosa	GPathogenic
Select item 1676613	NM_000094.4(COL7A1):c.8357_8358+4del	COL7A1	Deletion	Recessive dystrophic epidermolysis bullosa	GPathogenic
Select item 1676612	NC_000003.12:g.48567815_48567830del	COL7A1	Deletion	Recessive dystrophic epidermolysis bullosa	GUncertain significance
Select item 1676611	NM_000094.4(COL7A1):c.7104+3A>T	COL7A1	Single nucleotide variant	Recessive dystrophic epidermolysis bullosa +1 more	GPathogenic/Likely pathogenic
Select item 1676610	NM_000094.4(COL7A1):c.6926A>C (p.Lys2309Thr)	COL7A1 (K2309T)	Single nucleotide variant	Recessive dystrophic epidermolysis bullosa	GLikely pathogenic
Select item 1676609	NM_000094.4(COL7A1):c.343_344del (p.Gly115fs)	COL7A1 (G115fs)	Deletion	Recessive dystrophic epidermolysis bullosa	GPathogenic
Select item 1676608	NM_000094.4(COL7A1):c.6280-2_6281del	COL7A1	Deletion	Recessive dystrophic epidermolysis bullosa	GPathogenic
Select item 1676399	NM_000094.4(COL7A1):c.6602G>A (p.Gly2201Glu)	COL7A1 (G2201E)	Single nucleotide variant	not provided	GPathogenic
Select item 1635551	NM_000094.4(COL7A1):c.5389-15del	COL7A1, MIR711	Deletion (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1626653	NM_000094.4(COL7A1):c.5415A>C (p.Pro1805=)	COL7A1, MIR711	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1445669	NM_000094.4(COL7A1):c.5394del (p.Ala1799fs)	MIR711, COL7A1 (A1799fs)	Deletion (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 1324152	NM_000094.4(COL7A1):c.4323del (p.Gly1442fs)	COL7A1 (G1442fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1324150	NM_000094.4(COL7A1):c.4720del (p.Arg1574fs)	COL7A1 (R1574fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1324149	NM_000094.4(COL7A1):c.5124+2T>C	COL7A1	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 1324148	NM_000094.4(COL7A1):c.7558-1G>A	COL7A1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1322150	NM_000094.4(COL7A1):c.8302C>T (p.Gln2768Ter)	COL7A1 (Q2768*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1200940	NM_000094.4(COL7A1):c.5414C>T (p.Pro1805Leu)	COL7A1, MIR711 (P1805L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1160736	NM_000094.4(COL7A1):c.5424C>T (p.Asp1808=)	COL7A1, MIR711	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1152278	NM_000094.4(COL7A1):c.5409G>A (p.Gly1803=)	COL7A1, MIR711	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1121436	NM_000094.4(COL7A1):c.5424+9G>A	COL7A1, MIR711	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1085696	NM_000094.4(COL7A1):c.5424+7G>T	COL7A1, MIR711	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1080317	NM_000094.4(COL7A1):c.5400C>A (p.Gly1800=)	COL7A1, MIR711	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1064714	NM_000094.4(COL7A1):c.2711-4_2711-1del	COL7A1	Deletion (splice acceptor variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1048044	NM_000094.4(COL7A1):c.5407G>A (p.Gly1803Arg)	COL7A1, MIR711 (G1803R)	Single nucleotide variant (non-coding transcript variant +1 more)	Epidermolysis bullosa dystrophica	GPathogenic
Select item 1048043	NM_000094.4(COL7A1):c.5390G>A (p.Gly1797Asp)	MIR711, COL7A1 (G1797D)	Single nucleotide variant (non-coding transcript variant +1 more)	Epidermolysis bullosa dystrophica	GPathogenic
Select item 991884	NM_000094.4(COL7A1):c.302G>T (p.Gly101Val)	COL7A1 (G101V)	Single nucleotide variant (missense variant)	Pretibial dystrophic epidermolysis bullosa +6 more	GUncertain significance
Select item 991839	NM_000094.4(COL7A1):c.4391C>T (p.Pro1464Leu)	COL7A1 (P1464L)	Single nucleotide variant (missense variant)	Epidermolysis bullosa dystrophica inversa, autosomal recessive	GUncertain significance
Select item 991828	NM_000094.4(COL7A1):c.4997G>A (p.Arg1666Gln)	COL7A1 (R1666Q)	Single nucleotide variant (missense variant)	Epidermolysis bullosa dystrophica inversa, autosomal recessive	GUncertain significance

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