"GeneDx"[submitter] AND "COL17A1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 298678	NM_000494.4(COL17A1):c.*64G>C	COL17A1	Single nucleotide variant (3 prime UTR variant)	Junctional epidermolysis bullosa, non-Herlitz type +1 more	GBenign
Select item 3342931	NM_000494.4(COL17A1):c.4470AAG[1] (p.Arg1491del)	COL17A1 (R1491del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1227719	NM_000494.4(COL17A1):c.4439-29T>C	COL17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278946	NM_000494.4(COL17A1):c.4439-157T>G	COL17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251075	NM_000494.4(COL17A1):c.4366G>A (p.Gly1456Ser)	COL17A1 (G1456S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1179493	NM_000494.4(COL17A1):c.4358-17C>T	COL17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265539	NM_000494.4(COL17A1):c.4358-53C>T	COL17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225555	NM_000494.4(COL17A1):c.4295-29C>T	COL17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291157	NM_000494.4(COL17A1):c.4157-40A>C	COL17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290110	NM_000494.4(COL17A1):c.4157-233A>G	COL17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280150	NM_000494.4(COL17A1):c.4157-236C>T	COL17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227631	NM_000494.4(COL17A1):c.4157-270G>A	COL17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276450	NM_000494.4(COL17A1):c.4156+244G>A	COL17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290788	NM_000494.4(COL17A1):c.4156+116G>T	COL17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1047994	NM_000494.4(COL17A1):c.4156+1G>A	COL17A1	Single nucleotide variant (splice donor variant)	Junctional epidermolysis bullosa +1 more	GPathogenic
Select item 599000	NM_000494.4(COL17A1):c.4145_4148del (p.Glu1382fs)	COL17A1 (E1382fs)	Microsatellite (frameshift variant)	See cases +16 more	GPathogenic
Select item 256275	NM_000494.4(COL17A1):c.4109A>G (p.Asp1370Gly)	COL17A1 (D1370G)	Single nucleotide variant (missense variant)	Epithelial recurrent erosion dystrophy +3 more	GBenign
Select item 280329	NM_000494.4(COL17A1):c.4050del (p.Ala1351fs)	COL17A1 (A1351fs)	Deletion (frameshift variant)	Epidermolysis bullosa, junctional 4, intermediate +1 more	GPathogenic
Select item 422593	NM_000494.4(COL17A1):c.4000del (p.Arg1334fs)	COL17A1 (R1334fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 419270	NM_000494.4(COL17A1):c.3922del (p.Ser1308fs)	COL17A1 (S1308fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 17650	NM_000494.4(COL17A1):c.3908G>A (p.Arg1303Gln)	COL17A1 (R1303Q)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1181450	NM_000494.4(COL17A1):c.3821G>A (p.Gly1274Glu)	COL17A1 (G1274E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 877147	NM_000494.4(COL17A1):c.3739C>T (p.Arg1247Trp)	COL17A1 (R1247W)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa, non-Herlitz type +1 more	GUncertain significance
Select item 1292614	NM_000494.4(COL17A1):c.3620-22T>G	COL17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282608	NM_000494.4(COL17A1):c.3619+233G>C	COL17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238576	NM_000494.4(COL17A1):c.3619+166G>A	COL17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 878180	NM_000494.4(COL17A1):c.3452C>T (p.Pro1151Leu)	COL17A1 (P1151L)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa, non-Herlitz type +2 more	GUncertain significance
Select item 1268461	NM_000494.4(COL17A1):c.3419-80C>T	COL17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227714	NM_000494.4(COL17A1):c.3419-217C>G	COL17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221892	NM_000494.4(COL17A1):c.3403C>T (p.Leu1135Phe)	COL17A1 (L1135F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 256274	NM_000494.4(COL17A1):c.3278-9C>G	COL17A1	Single nucleotide variant (intron variant)	Epithelial recurrent erosion dystrophy +3 more	GBenign
Select item 1291156	NM_000494.4(COL17A1):c.3278-59T>C	COL17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260436	NM_000494.4(COL17A1):c.3278-206C>A	COL17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247720	NM_000494.4(COL17A1):c.3277+65T>G	COL17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 256273	NM_000494.4(COL17A1):c.3261T>C (p.Ile1087=)	COL17A1	Single nucleotide variant (synonymous variant)	Epithelial recurrent erosion dystrophy +3 more	GBenign
Select item 1321596	NM_000494.4(COL17A1):c.3209-177_3209-175dup	COL17A1	Duplication (intron variant)	not provided	GLikely benign
Select item 1257158	NM_000494.4(COL17A1):c.3209-188_3209-187dup	COL17A1	Duplication (intron variant)	not provided	GBenign
Select item 1231636	NM_000494.4(COL17A1):c.3209-188dup	COL17A1	Duplication (intron variant)	not provided	GBenign
Select item 1221875	NM_000494.4(COL17A1):c.3209-175del	COL17A1	Deletion (intron variant)	not provided	GBenign
Select item 1282383	NM_000494.4(COL17A1):c.3208+219G>T	COL17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 256272	NM_000494.4(COL17A1):c.3208+16C>T	COL17A1	Single nucleotide variant (intron variant)	Epithelial recurrent erosion dystrophy +3 more	GBenign
Select item 2402356	NM_000494.4(COL17A1):c.3118C>T (p.Pro1040Ser)	COL17A1 (P1040S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1228501	NM_000494.4(COL17A1):c.3071-9G>C	COL17A1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1264147	NM_000494.4(COL17A1):c.3071-59G>A	COL17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239118	NM_000494.4(COL17A1):c.3071-163del	COL17A1	Deletion (intron variant)	not provided	GBenign
Select item 1230574	NM_000494.4(COL17A1):c.3070+190T>C	COL17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294752	NM_000494.4(COL17A1):c.3070+125GT[20]	COL17A1	Microsatellite (intron variant)	not provided	GBenign
Select item 1279180	NM_000494.4(COL17A1):c.3070+125GT[14]	COL17A1	Microsatellite (intron variant)	not provided	GBenign
Select item 1271230	NM_000494.4(COL17A1):c.3070+125GT[24]	COL17A1	Microsatellite (intron variant)	not provided	GBenign
Select item 1260455	NM_000494.4(COL17A1):c.3070+125GT[23]	COL17A1	Microsatellite (intron variant)	not provided	GBenign
Select item 1237239	NM_000494.4(COL17A1):c.3070+125GT[19]	COL17A1	Microsatellite (intron variant)	not provided	GBenign
Select item 1230649	NM_000494.4(COL17A1):c.3070+125GT[15]	COL17A1	Microsatellite (intron variant)	not provided	GBenign
Select item 1178181	NM_000494.4(COL17A1):c.3070+69G>T	COL17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181483	NM_000494.4(COL17A1):c.3051C>T (p.Tyr1017=)	COL17A1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 488824	NM_000494.4(COL17A1):c.3046C>T (p.Gln1016Ter)	COL17A1 (Q1016*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1291152	NM_000494.4(COL17A1):c.3030T>G (p.Ser1010=)	COL17A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2277148	NM_000494.4(COL17A1):c.2987G>C (p.Gly996Ala)	COL17A1 (G996A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1268979	NM_000494.4(COL17A1):c.2947+228G>A	COL17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247322	NM_000494.4(COL17A1):c.2947+17A>G	COL17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 256271	NM_000494.4(COL17A1):c.2904A>G (p.Pro968=)	COL17A1	Single nucleotide variant (synonymous variant)	Epithelial recurrent erosion dystrophy +3 more	GBenign
Select item 256270	NM_000494.4(COL17A1):c.2883C>A (p.Pro961=)	COL17A1	Single nucleotide variant (synonymous variant)	Epithelial recurrent erosion dystrophy +3 more	GBenign
Select item 1281401	NM_000494.4(COL17A1):c.2789-154TG[11]	COL17A1	Microsatellite (intron variant)	not provided	GBenign
Select item 1234258	NM_000494.4(COL17A1):c.2789-154TG[13]	COL17A1	Microsatellite (intron variant)	not provided	GBenign
Select item 1263921	NM_000494.4(COL17A1):c.2789-156_2789-155del	COL17A1	Deletion (intron variant)	not provided	GBenign
Select item 1225875	NM_000494.4(COL17A1):c.2789-156C>T	COL17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267820	NM_000494.4(COL17A1):c.2788+132G>T	COL17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228955	NM_000494.4(COL17A1):c.2738C>T (p.Pro913Leu)	COL17A1 (P913L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 878243	NM_000494.4(COL17A1):c.2722C>G (p.Pro908Ala)	COL17A1 (P908A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1179591	NM_000494.4(COL17A1):c.2702-153G>A	COL17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232704	NM_000494.4(COL17A1):c.2702-188TCCA[8]	COL17A1	Microsatellite (intron variant)	not provided	GBenign
Select item 1270302	NM_000494.4(COL17A1):c.2702-192_2702-177del	COL17A1	Deletion (intron variant)	not provided	GBenign
Select item 1178177	NM_000494.4(COL17A1):c.2702-192_2702-181del	COL17A1	Deletion (intron variant)	not provided	GBenign
Select item 1233265	NM_000494.4(COL17A1):c.2701+309G>A	COL17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294724	NM_000494.4(COL17A1):c.2701+49C>T	COL17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222803	NM_000494.4(COL17A1):c.2648-78C>A	COL17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 256269	NM_000494.4(COL17A1):c.2595C>T (p.Arg865=)	COL17A1	Single nucleotide variant (synonymous variant)	Epithelial recurrent erosion dystrophy +3 more	GBenign
Select item 450542	NM_000494.4(COL17A1):c.2578G>A (p.Gly860Ser)	COL17A1 (G860S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1283226	NM_000494.4(COL17A1):c.2552-78T>A	COL17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263910	NM_000494.4(COL17A1):c.2551+190T>G	COL17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242284	NM_000494.4(COL17A1):c.2515+179T>C	COL17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220972	NM_000494.4(COL17A1):c.2515+103C>A	COL17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 451883	NM_000494.4(COL17A1):c.2478_2504del (p.Met829_Ala837del)	COL17A1	Deletion (inframe_deletion)	not specified +1 more	GBenign/Likely benign
Select item 1704972	NM_000494.4(COL17A1):c.2468del (p.Pro823fs)	COL17A1 (P823fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1237983	NM_000494.4(COL17A1):c.2434+71C>T	COL17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 298713	NM_000494.4(COL17A1):c.2407G>T (p.Gly803Ter)	COL17A1 (G803*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1221569	NM_000494.4(COL17A1):c.2398+261A>G	COL17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278991	NM_000494.4(COL17A1):c.2398+206C>T	COL17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276743	NM_000494.4(COL17A1):c.2398+188C>T	COL17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291151	NM_000494.4(COL17A1):c.2398+80C>T	COL17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 256268	NM_000494.4(COL17A1):c.2398+19G>A	COL17A1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 1273533	NM_000494.4(COL17A1):c.2362+195G>T	COL17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264796	NM_000494.4(COL17A1):c.2335+185C>T	COL17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291150	NM_000494.4(COL17A1):c.2335+82T>C	COL17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227902	NM_000494.4(COL17A1):c.2335+21A>G	COL17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2247335	NM_000494.4(COL17A1):c.2297G>A (p.Arg766His)	COL17A1 (R766H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1259518	NM_000494.4(COL17A1):c.2168A>G (p.Glu723Gly)	COL17A1 (E723G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1242101	NM_000494.4(COL17A1):c.2165-196T>C	COL17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228352	NM_000494.4(COL17A1):c.2164+176A>G	COL17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 256267	NM_000494.4(COL17A1):c.2107A>G (p.Met703Val)	COL17A1 (M703V)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa, non-Herlitz type +3 more	GBenign
Select item 1273858	NM_000494.4(COL17A1):c.2039-220G>T	COL17A1	Single nucleotide variant (intron variant)	not provided	GBenign

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