"Ambry Genetics"[submitter] AND "COL7A1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 989693	NM_000094.4(COL7A1):c.8569G>A (p.Glu2857Lys)	COL7A1 (E2857K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2202150	NM_000094.4(COL7A1):c.8503C>T (p.Arg2835Cys)	COL7A1 (R2835C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1443856	NM_000094.4(COL7A1):c.8473G>A (p.Gly2825Ser)	COL7A1 (G2825S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1352651	NM_000094.4(COL7A1):c.8428G>A (p.Ala2810Thr)	COL7A1 (A2810T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2141919	NM_000094.4(COL7A1):c.8383C>T (p.Arg2795Cys)	COL7A1 (R2795C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 212731	NM_000094.4(COL7A1):c.8371C>T (p.Arg2791Trp)	COL7A1 (R2791W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 3147809	NM_000094.4(COL7A1):c.8294G>C (p.Arg2765Thr)	COL7A1 (R2765T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 345796	NM_000094.4(COL7A1):c.8240C>T (p.Pro2747Leu)	COL7A1 (P2747L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2153172	NM_000094.4(COL7A1):c.8009C>T (p.Ser2670Leu)	COL7A1 (S2670L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2468148	NM_000094.4(COL7A1):c.7991C>T (p.Pro2664Leu)	COL7A1 (P2664L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985529	NM_000094.4(COL7A1):c.7984-2del	COL7A1	Deletion (splice acceptor variant)	Inborn genetic diseases	GPathogenic
Select item 799715	NM_000094.4(COL7A1):c.7722C>T (p.Ala2574=)	COL7A1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2154342	NM_000094.4(COL7A1):c.7672G>A (p.Asp2558Asn)	COL7A1 (D2558N)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2538520	NM_000094.4(COL7A1):c.7449T>A (p.Asp2483Glu)	COL7A1 (D2483E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337188	NM_000094.4(COL7A1):c.7289C>G (p.Pro2430Arg)	COL7A1 (P2430R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1991878	NM_000094.4(COL7A1):c.7226C>T (p.Thr2409Ile)	COL7A1 (T2409I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 900646	NM_000094.4(COL7A1):c.7217C>T (p.Pro2406Leu)	COL7A1 (P2406L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1507957	NM_000094.4(COL7A1):c.7127C>T (p.Pro2376Leu)	COL7A1 (P2376L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2191977	NM_000094.4(COL7A1):c.7090C>T (p.Pro2364Ser)	COL7A1 (P2364S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2617860	NM_000094.4(COL7A1):c.6819C>A (p.Ser2273Arg)	COL7A1 (S2273R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1494751	NM_000094.4(COL7A1):c.6808G>C (p.Asp2270His)	COL7A1 (D2270H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1695729	NM_000094.4(COL7A1):c.6738G>T (p.Leu2246Phe)	COL7A1 (L2246F)	Single nucleotide variant (missense variant)	Recessive dystrophic epidermolysis bullosa +2 more	GConflicting classifications of pathogenicity
Select item 990828	NM_000094.4(COL7A1):c.6730C>G (p.Pro2244Ala)	COL7A1 (P2244A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 208679	NM_000094.4(COL7A1):c.6724G>C (p.Gly2242Arg)	COL7A1 (G2242R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GPathogenic
Select item 1478377	NM_000094.4(COL7A1):c.6643C>G (p.Pro2215Ala)	COL7A1 (P2215A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2477630	NM_000094.4(COL7A1):c.6634A>G (p.Thr2212Ala)	COL7A1 (T2212A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 990829	NM_000094.4(COL7A1):c.6596C>T (p.Pro2199Leu)	COL7A1 (P2199L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 372345	NM_000094.4(COL7A1):c.6527dup (p.Gly2177fs)	COL7A1 (G2177fs)	Duplication (frameshift variant)	Epidermolysis bullosa pruriginosa +11 more	GPathogenic
Select item 915364	NM_000094.4(COL7A1):c.6473G>A (p.Arg2158His)	COL7A1 (R2158H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3147808	NM_000094.4(COL7A1):c.6437G>A (p.Arg2146Lys)	COL7A1 (R2146K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147807	NM_000094.4(COL7A1):c.6434C>T (p.Pro2145Leu)	COL7A1 (P2145L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289904	NM_000094.4(COL7A1):c.6433C>T (p.Pro2145Ser)	COL7A1 (P2145S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1091090	NM_000094.4(COL7A1):c.6400C>T (p.Pro2134Ser)	COL7A1 (P2134S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1394203	NM_000094.4(COL7A1):c.6388G>A (p.Asp2130Asn)	COL7A1 (D2130N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2085430	NM_000094.4(COL7A1):c.6361A>G (p.Ser2121Gly)	COL7A1 (S2121G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1157818	NM_000094.4(COL7A1):c.6265C>A (p.Pro2089Thr)	COL7A1 (P2089T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2475303	NM_000094.4(COL7A1):c.6256C>T (p.Pro2086Ser)	COL7A1 (P2086S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472815	NM_000094.4(COL7A1):c.6030C>A (p.Asp2010Glu)	COL7A1 (D2010E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 17430	NM_000094.4(COL7A1):c.6007G>A (p.Gly2003Arg)	COL7A1 (G2003R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 1117769	NM_000094.4(COL7A1):c.5956G>A (p.Glu1986Lys)	COL7A1 (E1986K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3147806	NM_000094.4(COL7A1):c.5806C>G (p.Pro1936Ala)	COL7A1 (P1936A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147805	NM_000094.4(COL7A1):c.5564G>A (p.Arg1855Lys)	COL7A1 (R1855K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605368	NM_000094.4(COL7A1):c.5471G>T (p.Gly1824Val)	COL7A1 (G1824V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 991502	NM_000094.4(COL7A1):c.5465C>T (p.Pro1822Leu)	COL7A1 (P1822L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2495574	NM_000094.4(COL7A1):c.5368G>C (p.Ala1790Pro)	COL7A1 (A1790P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1313845	NM_000094.4(COL7A1):c.5339G>A (p.Arg1780Gln)	COL7A1 (R1780Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2605654	NM_000094.4(COL7A1):c.5324C>T (p.Pro1775Leu)	COL7A1 (P1775L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531178	NM_000094.4(COL7A1):c.5225C>G (p.Pro1742Arg)	COL7A1 (P1742R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2063527	NM_000094.4(COL7A1):c.5170C>T (p.Arg1724Cys)	COL7A1 (R1724C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2238977	NM_000094.4(COL7A1):c.5168A>G (p.Asp1723Gly)	COL7A1 (D1723G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2139679	NM_000094.4(COL7A1):c.5114C>T (p.Pro1705Leu)	COL7A1 (P1705L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1949561	NM_000094.4(COL7A1):c.5057G>C (p.Ser1686Thr)	COL7A1 (S1686T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2138950	NM_000094.4(COL7A1):c.4970G>A (p.Arg1657His)	COL7A1 (R1657H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2547006	NM_000094.4(COL7A1):c.4870C>G (p.Pro1624Ala)	COL7A1 (P1624A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2158874	NM_000094.4(COL7A1):c.4721G>A (p.Arg1574Gln)	COL7A1 (R1574Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 991832	NM_000094.4(COL7A1):c.4684G>A (p.Ala1562Thr)	COL7A1 (A1562T)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2162358	NM_000094.4(COL7A1):c.4541G>A (p.Arg1514His)	COL7A1 (R1514H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3147804	NM_000094.4(COL7A1):c.4538G>T (p.Gly1513Val)	COL7A1 (G1513V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599617	NM_000094.4(COL7A1):c.4516C>T (p.Arg1506Trp)	COL7A1 (R1506W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 991837	NM_000094.4(COL7A1):c.4508C>T (p.Ala1503Val)	COL7A1 (A1503V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1319567	NM_000094.4(COL7A1):c.4445G>A (p.Arg1482Gln)	COL7A1 (R1482Q)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 903333	NM_000094.4(COL7A1):c.4427T>C (p.Ile1476Thr)	COL7A1 (I1476T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 991838	NM_000094.4(COL7A1):c.4408C>T (p.Arg1470Trp)	COL7A1 (R1470W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 345849	NM_000094.4(COL7A1):c.4329G>T (p.Lys1443Asn)	COL7A1 (K1443N)	Single nucleotide variant (missense variant)	Epidermolysis bullosa dystrophica +2 more	GUncertain significance
Select item 3147803	NM_000094.4(COL7A1):c.4277C>T (p.Pro1426Leu)	COL7A1 (P1426L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1396458	NM_000094.4(COL7A1):c.4274T>C (p.Leu1425Pro)	COL7A1 (L1425P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2320318	NM_000094.4(COL7A1):c.4237C>A (p.Pro1413Thr)	COL7A1 (P1413T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147802	NM_000094.4(COL7A1):c.4235G>A (p.Gly1412Glu)	COL7A1 (G1412E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1522186	NM_000094.4(COL7A1):c.4223G>A (p.Arg1408Gln)	COL7A1 (R1408Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2268620	NM_000094.4(COL7A1):c.4021G>A (p.Gly1341Arg)	COL7A1 (G1341R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308339	NM_000094.4(COL7A1):c.4015G>C (p.Glu1339Gln)	COL7A1 (E1339Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3147801	NM_000094.4(COL7A1):c.4010C>T (p.Pro1337Leu)	COL7A1 (P1337L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2148189	NM_000094.4(COL7A1):c.4009C>G (p.Pro1337Ala)	COL7A1 (P1337A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2898945	NM_000094.4(COL7A1):c.4001G>T (p.Arg1334Leu)	COL7A1 (R1334L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1011355	NM_000094.4(COL7A1):c.4001G>A (p.Arg1334His)	COL7A1 (R1334H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2329769	NM_000094.4(COL7A1):c.3946C>T (p.Pro1316Ser)	COL7A1 (P1316S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 989741	NM_000094.4(COL7A1):c.3917G>A (p.Arg1306His)	COL7A1 (R1306H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1502625	NM_000094.4(COL7A1):c.3872G>A (p.Ser1291Asn)	COL7A1 (S1291N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2199720	NM_000094.4(COL7A1):c.3862C>A (p.Pro1288Thr)	COL7A1 (P1288T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2149462	NM_000094.4(COL7A1):c.3844G>A (p.Ala1282Thr)	COL7A1 (A1282T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2025012	NM_000094.4(COL7A1):c.3818A>C (p.Asp1273Ala)	COL7A1 (D1273A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2201930	NM_000094.4(COL7A1):c.3728G>A (p.Arg1243Gln)	COL7A1 (R1243Q)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2529548	NM_000094.4(COL7A1):c.3715A>C (p.Thr1239Pro)	COL7A1 (T1239P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320570	NM_000094.4(COL7A1):c.3653A>T (p.Asp1218Val)	COL7A1 (D1218V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2147271	NM_000094.4(COL7A1):c.3646G>A (p.Val1216Met)	COL7A1 (V1216M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2529081	NM_000094.4(COL7A1):c.3633G>C (p.Gln1211His)	COL7A1 (Q1211H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2155672	NM_000094.4(COL7A1):c.3628G>C (p.Val1210Leu)	COL7A1 (V1210L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 989749	NM_000094.4(COL7A1):c.3611C>T (p.Ala1204Val)	COL7A1 (A1204V)	Single nucleotide variant (missense variant)	COL7A1-related disorder +2 more	GLikely benign
Select item 2307410	NM_000094.4(COL7A1):c.3529A>G (p.Ile1177Val)	COL7A1 (I1177V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2066788	NM_000094.4(COL7A1):c.3407C>T (p.Thr1136Ile)	COL7A1 (T1136I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2150076	NM_000094.4(COL7A1):c.3364C>T (p.Arg1122Cys)	COL7A1 (R1122C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 345859	NM_000094.4(COL7A1):c.3343G>C (p.Gly1115Arg)	COL7A1 (G1115R)	Single nucleotide variant (missense variant)	Epidermolysis bullosa dystrophica +3 more	GConflicting classifications of pathogenicity
Select item 1930340	NM_000094.4(COL7A1):c.3289T>A (p.Ser1097Thr)	COL7A1 (S1097T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2543826	NM_000094.4(COL7A1):c.3233G>C (p.Arg1078Pro)	COL7A1 (R1078P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 345860	NM_000094.4(COL7A1):c.3233G>A (p.Arg1078His)	COL7A1 (R1078H)	Single nucleotide variant (missense variant)	Epidermolysis bullosa dystrophica +2 more	GConflicting classifications of pathogenicity
Select item 345861	NM_000094.4(COL7A1):c.3232C>T (p.Arg1078Cys)	COL7A1 (R1078C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1524108	NM_000094.4(COL7A1):c.3211G>T (p.Ala1071Ser)	COL7A1 (A1071S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 989752	NM_000094.4(COL7A1):c.3211G>A (p.Ala1071Thr)	COL7A1 (A1071T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2165704	NM_000094.4(COL7A1):c.3199C>T (p.His1067Tyr)	COL7A1 (H1067Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 989755	NM_000094.4(COL7A1):c.3112C>T (p.Pro1038Ser)	COL7A1 (P1038S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity

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