"GeneDx"[submitter] AND "COL7A1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1687653	NM_000094.4(COL7A1):c.8780G>A (p.Arg2927His)	COL7A1 (R2927H)	Single nucleotide variant (missense variant)	Recessive dystrophic epidermolysis bullosa +7 more	GConflicting classifications of pathogenicity
Select item 1291987	NM_000094.4(COL7A1):c.8620+23G>A	COL7A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 255115	NM_000094.4(COL7A1):c.8620+18_8620+19insCGC	COL7A1	Insertion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 453021	NM_000094.4(COL7A1):c.8530C>T (p.Arg2844Trp)	COL7A1 (R2844W)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2499263	NM_000094.4(COL7A1):c.8528-45G>A	COL7A1	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 265082	NM_000094.4(COL7A1):c.8440C>T (p.Arg2814Ter)	COL7A1 (R2814*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1222190	NM_000094.4(COL7A1):c.8408-125_8408-122dup	COL7A1	Duplication (intron variant)	not provided	GBenign
Select item 1270322	NM_000094.4(COL7A1):c.8408-125_8408-123del	COL7A1	Deletion (intron variant)	not provided	GBenign
Select item 1271692	NM_000094.4(COL7A1):c.8408-125_8408-124insCTGT	COL7A1	Insertion (intron variant)	not provided	GBenign
Select item 1069808	NM_000094.4(COL7A1):c.8371del (p.Arg2791fs)	COL7A1 (R2791fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1592381	NM_000094.4(COL7A1):c.8359-17T>A	COL7A1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 265081	NM_000094.4(COL7A1):c.8329C>T (p.Arg2777Ter)	COL7A1 (R2777*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 255114	NM_000094.4(COL7A1):c.8305-20G>C	COL7A1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1250177	NM_000094.4(COL7A1):c.8304+34C>T	COL7A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 503806	NM_000094.4(COL7A1):c.8272del (p.Val2758fs)	COL7A1 (V2758fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 391719	NM_000094.4(COL7A1):c.8266C>T (p.Pro2756Ser)	COL7A1 (P2756S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 17460	NM_000094.4(COL7A1):c.8245G>A (p.Gly2749Arg)	COL7A1 (G2749R)	Single nucleotide variant (missense variant)	Recessive dystrophic epidermolysis bullosa +1 more	GPathogenic
Select item 850546	NM_000094.4(COL7A1):c.8233C>T (p.Arg2745Ter)	COL7A1 (R2745*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 632419	NM_000094.4(COL7A1):c.8206G>A (p.Glu2736Lys)	COL7A1 (E2736K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1197972	NM_000094.4(COL7A1):c.8165G>A (p.Gly2722Asp)	COL7A1 (G2722D)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1174813	NM_000094.4(COL7A1):c.8138G>A (p.Gly2713Asp)	COL7A1 (G2713D)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1254251	NM_000094.4(COL7A1):c.8111G>A (p.Gly2704Glu)	COL7A1 (G2704E)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 1806588	NM_000094.4(COL7A1):c.8110G>A (p.Gly2704Arg)	COL7A1 (G2704R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 379696	NM_000094.4(COL7A1):c.8102G>T (p.Gly2701Val)	COL7A1 (G2701V)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 932076	NM_000094.4(COL7A1):c.8053C>T (p.Arg2685Ter)	COL7A1 (R2685*)	Single nucleotide variant (nonsense)	COL7A1-related disorder +2 more	GPathogenic
Select item 265080	NM_000094.4(COL7A1):c.8012G>A (p.Gly2671Glu)	COL7A1 (G2671E)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2501426	NM_000094.4(COL7A1):c.7987G>T (p.Glu2663Ter)	COL7A1 (E2663*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 345801	NM_000094.4(COL7A1):c.7984-7del	COL7A1	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 17458	NM_000094.4(COL7A1):c.7957G>A (p.Gly2653Arg)	COL7A1 (G2653R)	Single nucleotide variant (missense variant)	Recessive dystrophic epidermolysis bullosa +1 more	GPathogenic
Select item 265079	NM_000094.4(COL7A1):c.7865G>A (p.Arg2622Gln)	COL7A1 (R2622Q)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 449005	NM_000094.4(COL7A1):c.7864C>T (p.Arg2622Trp)	COL7A1 (R2622W)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 419502	NM_000094.4(COL7A1):c.7828C>T (p.Arg2610Ter)	COL7A1 (R2610*)	Single nucleotide variant (nonsense)	Epidermolysis bullosa pruriginosa +2 more	GPathogenic
Select item 17441	NM_000094.4(COL7A1):c.7787del (p.Gly2596fs)	COL7A1 (G2596fs)	Deletion (frameshift variant)	Generalized dominant dystrophic epidermolysis bullosa +7 more	GPathogenic
Select item 1244817	NM_000094.4(COL7A1):c.7759-98C>A	COL7A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 265078	NM_000094.4(COL7A1):c.7723G>A (p.Gly2575Arg)	COL7A1 (G2575R)	Single nucleotide variant (missense variant)	COL7A1-related disorder +2 more	GPathogenic
Select item 1458598	NM_000094.4(COL7A1):c.7708del (p.Asp2570fs)	COL7A1 (D2570fs)	Deletion (frameshift variant)	Recessive dystrophic epidermolysis bullosa +1 more	GPathogenic
Select item 419484	NM_000094.4(COL7A1):c.7688G>A (p.Gly2563Asp)	COL7A1 (G2563D)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1239874	NM_000094.4(COL7A1):c.7522-49T>C	COL7A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 372350	NM_000094.4(COL7A1):c.7485+5G>A	COL7A1	Single nucleotide variant (intron variant)	COL7A1-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 488686	NM_000094.4(COL7A1):c.7462C>T (p.Gln2488Ter)	COL7A1 (Q2488*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 265077	NM_000094.4(COL7A1):c.7442G>A (p.Gly2481Asp)	COL7A1 (G2481D)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 761882	NM_000094.4(COL7A1):c.7417G>A (p.Glu2473Lys)	COL7A1 (E2473K)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 17459	NM_000094.4(COL7A1):c.7411C>T (p.Arg2471Ter)	COL7A1 (R2471*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 817173	NM_000094.4(COL7A1):c.7349del (p.Pro2450fs)	COL7A1 (P2450fs)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 949868	NM_000094.4(COL7A1):c.7344+1G>T	COL7A1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic/Likely pathogenic
Select item 372349	NM_000094.4(COL7A1):c.7344G>A (p.Val2448=)	COL7A1	Single nucleotide variant (synonymous variant)	not provided +7 more	GPathogenic
Select item 1334336	NM_000094.4(COL7A1):c.7247G>T (p.Gly2416Val)	COL7A1 (G2416V)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 620089	NM_000094.4(COL7A1):c.7234C>T (p.Arg2412Ter)	COL7A1 (R2412*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 379479	NM_000094.4(COL7A1):c.7219G>A (p.Gly2407Ser)	COL7A1 (G2407S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 345812	NM_000094.4(COL7A1):c.7204G>A (p.Val2402Ile)	COL7A1 (V2402I)	Single nucleotide variant (missense variant)	Epidermolysis bullosa dystrophica +1 more	GUncertain significance
Select item 2582159	NM_000094.4(COL7A1):c.7168G>T (p.Asp2390Tyr)	COL7A1 (D2390Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1223033	NM_000094.4(COL7A1):c.7164+28A>G	COL7A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199942	NM_000094.4(COL7A1):c.7154del (p.Pro2385fs)	COL7A1 (P2385fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 902325	NM_000094.4(COL7A1):c.7124T>A (p.Val2375Asp)	COL7A1 (V2375D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1254750	NM_000094.4(COL7A1):c.7106G>A (p.Gly2369Asp)	COL7A1 (G2369D)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2502782	NM_000094.4(COL7A1):c.7097G>T (p.Gly2366Val)	COL7A1 (G2366V)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 372348	NM_000094.4(COL7A1):c.7078G>A (p.Gly2360Arg)	COL7A1 (G2360R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 689753	NM_000094.4(COL7A1):c.7068+5G>A	COL7A1	Single nucleotide variant (intron variant)	Epidermolysis bullosa dystrophica +8 more	GConflicting classifications of pathogenicity
Select item 1202489	NM_000094.4(COL7A1):c.7060G>C (p.Gly2354Arg)	COL7A1 (G2354R)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 345815	NM_000094.4(COL7A1):c.7037G>A (p.Arg2346His)	COL7A1 (R2346H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2446208	NM_000094.4(COL7A1):c.7021_7023del (p.Lys2341del)	COL7A1 (K2341del)	Deletion (inframe_indel +1 more)	not provided	GLikely pathogenic
Select item 372347	NM_000094.4(COL7A1):c.7012C>T (p.Arg2338Ter)	COL7A1 (R2338*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2504172	NM_000094.4(COL7A1):c.6900+2_6900+5del	COL7A1	Deletion (splice donor variant)	not provided	GPathogenic
Select item 419491	NM_000094.4(COL7A1):c.6900+1G>A	COL7A1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 504437	NM_000094.4(COL7A1):c.6855_6881del (p.Val2286_Pro2294del)	COL7A1	Deletion (inframe_deletion)	not provided	GLikely pathogenic
Select item 503708	NM_000094.4(COL7A1):c.6864_6879del (p.Lys2289fs)	COL7A1 (K2289fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1048018	NM_000094.4(COL7A1):c.6861A>G (p.Gly2287=)	COL7A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 17447	NM_000094.4(COL7A1):c.6859G>A (p.Gly2287Arg)	COL7A1 (G2287R)	Single nucleotide variant (missense variant)	COL7A1-related disorder +3 more	GPathogenic
Select item 419501	NM_000094.4(COL7A1):c.6842G>C (p.Gly2281Ala)	COL7A1 (G2281A)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 513265	NM_000094.4(COL7A1):c.6832-3T>C	COL7A1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1196665	NM_000094.4(COL7A1):c.6788G>A (p.Gly2263Asp)	COL7A1 (G2263D)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 372346	NM_000094.4(COL7A1):c.6781C>T (p.Arg2261Ter)	COL7A1 (R2261*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1676866	NM_000094.4(COL7A1):c.6778G>C (p.Gly2260Arg)	COL7A1 (G2260R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 372763	NM_000094.4(COL7A1):c.6770G>C (p.Gly2257Ala)	COL7A1 (G2257A)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 279791	NM_000094.4(COL7A1):c.6769G>A (p.Gly2257Arg)	COL7A1 (G2257R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1187792	NM_000094.4(COL7A1):c.6761G>A (p.Gly2254Glu)	COL7A1 (G2254E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 392725	NM_000094.4(COL7A1):c.6751G>A (p.Gly2251Arg)	COL7A1 (G2251R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1695729	NM_000094.4(COL7A1):c.6738G>T (p.Leu2246Phe)	COL7A1 (L2246F)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1703942	NM_000094.4(COL7A1):c.6725G>A (p.Gly2242Glu)	COL7A1 (G2242E)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 17439	NM_000094.4(COL7A1):c.6724G>A (p.Gly2242Arg)	COL7A1 (G2242R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3340259	NM_000094.4(COL7A1):c.6716G>T (p.Gly2239Val)	COL7A1 (G2239V)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1164117	NM_000094.4(COL7A1):c.6715-18C>T	COL7A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 940752	NM_000094.4(COL7A1):c.6696dup (p.Gly2233fs)	COL7A1 (G2233fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 255113	NM_000094.4(COL7A1):c.6696C>A (p.Pro2232=)	COL7A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2111773	NM_000094.4(COL7A1):c.6662G>A (p.Gly2221Glu)	COL7A1 (G2221E)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 431811	NM_000094.4(COL7A1):c.6656dup (p.Thr2220fs)	COL7A1 (T2220fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2166105	NM_000094.4(COL7A1):c.6650G>A (p.Arg2217Gln)	COL7A1 (R2217Q)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1265238	NM_000094.4(COL7A1):c.6618+21A>G	COL7A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 372345	NM_000094.4(COL7A1):c.6527dup (p.Gly2177fs)	COL7A1 (G2177fs)	Duplication (frameshift variant)	Pretibial dystrophic epidermolysis bullosa +11 more	GPathogenic
Select item 1074690	NM_000094.4(COL7A1):c.6501+1G>C	COL7A1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 623128	NM_000094.4(COL7A1):c.6501G>A (p.Pro2167=)	COL7A1	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa dystrophica +5 more	GPathogenic/Likely pathogenic
Select item 1404275	NM_000094.4(COL7A1):c.6395G>A (p.Gly2132Asp)	COL7A1 (G2132D)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 429738	NM_000094.4(COL7A1):c.6394G>C (p.Gly2132Arg)	COL7A1 (G2132R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 817015	NM_000094.4(COL7A1):c.6351delinsAT (p.Gly2117_Glu2118insTer)	COL7A1	Indel (frameshift variant)	not provided	GPathogenic
Select item 1292582	NM_000094.4(COL7A1):c.6279+26C>T	COL7A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 372344	NM_000094.4(COL7A1):c.6262G>A (p.Gly2088Arg)	COL7A1 (G2088R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1212890	NM_000094.4(COL7A1):c.6235G>A (p.Gly2079Arg)	COL7A1 (G2079R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1188318	NM_000094.4(COL7A1):c.6217G>T (p.Gly2073Cys)	COL7A1 (G2073C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1265546	NM_000094.4(COL7A1):c.6216+37G>A	COL7A1	Single nucleotide variant (intron variant)	not provided	GBenign

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