ClinVar for MedGen (Select 82798) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065678	NM_000228.3(LAMB3):c.1598-1G>T	LAMB3	Single nucleotide variant (splice acceptor variant)	Junctional epidermolysis bullosa, non-Herlitz type	GLikely pathogenic
Select item 3065670	NM_000228.3(LAMB3):c.1482C>G (p.Asn494Lys)	LAMB3 (N494K)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa, non-Herlitz type	GUncertain significance
Select item 3065544	NM_000228.3(LAMB3):c.972_973del (p.Cys325fs)	LAMB3 (C325fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa, non-Herlitz type	GLikely pathogenic
Select item 2627501	NM_000494.4(COL17A1):c.464-2A>G	COL17A1	Single nucleotide variant (splice acceptor variant)	Junctional epidermolysis bullosa, non-Herlitz type	GLikely pathogenic
Select item 2442345	NM_000228.3(LAMB3):c.891C>G (p.Tyr297Ter)	LAMB3 (Y297*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa, non-Herlitz type	GLikely pathogenic
Select item 2094416	NM_000228.3(LAMB3):c.1410G>A (p.Trp470Ter)	LAMB3 (W470*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1804002	NM_000228.3(LAMB3):c.1628dup (p.Cys546fs)	LAMB3 (C546fs)	Duplication (frameshift variant)	Junctional epidermolysis bullosa, non-Herlitz type +1 more	GPathogenic
Select item 1726929	NM_000228.3(LAMB3):c.446_447delinsCAAAGGAAGA (p.Leu149fs)	LAMB3 (L149fs)	Indel (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GLikely pathogenic
Select item 1726795	NM_000228.3(LAMB3):c.2773_2774del (p.Ala926fs)	LAMB3 (A926fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GLikely pathogenic
Select item 1726790	NM_000228.3(LAMB3):c.2482del (p.Ala828fs)	LAMB3 (A828fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GLikely pathogenic
Select item 1726714	NM_000228.3(LAMB3):c.378del (p.Met127fs)	LAMB3 (M127fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GLikely pathogenic
Select item 1726577	NM_000228.3(LAMB3):c.444C>G (p.Tyr148Ter)	LAMB3 (Y148*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GLikely pathogenic
Select item 1726556	NM_000228.3(LAMB3):c.2327C>A (p.Ser776Ter)	LAMB3 (S776*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GLikely pathogenic
Select item 1726509	NM_000228.3(LAMB3):c.2166C>A (p.Tyr722Ter)	LAMB3 (Y722*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GLikely pathogenic
Select item 1726411	NM_000228.3(LAMB3):c.981del (p.Phe327fs)	LAMB3 (F327fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GLikely pathogenic
Select item 1726145	NM_000228.3(LAMB3):c.2706dup (p.Asp903fs)	LAMB3 (D903fs)	Duplication (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GLikely pathogenic
Select item 1726123	NM_000228.3(LAMB3):c.2592dup (p.Ser865fs)	LAMB3 (S865fs)	Duplication (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GLikely pathogenic
Select item 1726104	NM_000228.3(LAMB3):c.222_223del (p.His75fs)	LAMB3 (H75fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GLikely pathogenic
Select item 1725959	NM_000228.3(LAMB3):c.2800del (p.Glu934fs)	LAMB3 (E934fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GLikely pathogenic
Select item 1725919	NM_000228.3(LAMB3):c.121del (p.Leu41fs)	LAMB3 (L41fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GLikely pathogenic
Select item 1725843	NM_000228.3(LAMB3):c.1204A>T (p.Lys402Ter)	LAMB3 (K402*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GLikely pathogenic
Select item 1725755	NM_000228.3(LAMB3):c.385del (p.Ala129fs)	LAMB3 (A129fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GLikely pathogenic
Select item 1725559	NM_000228.3(LAMB3):c.421A>T (p.Lys141Ter)	LAMB3 (K141*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GLikely pathogenic
Select item 1725518	NM_000228.3(LAMB3):c.81T>A (p.Tyr27Ter)	LAMB3 (Y27*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GLikely pathogenic
Select item 1725504	NM_000228.3(LAMB3):c.758_759del (p.His253fs)	LAMB3 (H253fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GLikely pathogenic
Select item 1725437	NM_000228.3(LAMB3):c.1319_1325delinsAGG (p.Arg440fs)	LAMB3 (R440fs)	Indel (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GLikely pathogenic
Select item 1725310	NM_000228.3(LAMB3):c.1435G>T (p.Glu479Ter)	LAMB3 (E479*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GLikely pathogenic
Select item 1725177	NM_000228.3(LAMB3):c.2257_2258insGCCACAAGCT (p.Val753fs)	LAMB3 (V753fs)	Insertion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GLikely pathogenic
Select item 1725028	NM_000228.3(LAMB3):c.1876delinsAAATT (p.Asp626fs)	LAMB3 (D626fs)	Indel (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GLikely pathogenic
Select item 1724972	NM_000228.3(LAMB3):c.3034del (p.Gln1012fs)	LAMB3 (Q1012fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GLikely pathogenic
Select item 1724715	NM_000228.3(LAMB3):c.497_498delinsT (p.Gln166fs)	LAMB3 (Q166fs)	Indel (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GLikely pathogenic
Select item 1724671	NM_000228.3(LAMB3):c.3226G>T (p.Glu1076Ter)	LAMB3 (E1076*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GLikely pathogenic
Select item 1724500	NM_000228.3(LAMB3):c.2089_2100delinsA (p.Gln697fs)	LAMB3 (Q697fs)	Indel (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GLikely pathogenic
Select item 1724429	NM_000228.3(LAMB3):c.239_240del (p.His80fs)	LAMB3 (H80fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GLikely pathogenic
Select item 1724181	NM_000228.3(LAMB3):c.528_529delinsT (p.Pro177fs)	LAMB3 (P177fs)	Indel (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GLikely pathogenic
Select item 1724154	NM_000228.3(LAMB3):c.2421_2422del (p.Gln808fs)	LAMB3 (Q808fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GLikely pathogenic
Select item 1724056	NM_000228.3(LAMB3):c.2677del (p.Gln893fs)	LAMB3 (Q893fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GLikely pathogenic
Select item 1723987	NM_000228.3(LAMB3):c.852_853insCCTAGTA (p.Thr285fs)	LAMB3 (T285fs)	Insertion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GLikely pathogenic
Select item 1723978	NM_000228.3(LAMB3):c.76del (p.Cys26fs)	LAMB3 (C26fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GLikely pathogenic
Select item 1709830	NM_198129.4(LAMA3):c.8299del (p.Val2767fs)	LAMA3 (V1102fs +3 more)	Deletion (frameshift variant)	Junctional epidermolysis bullosa, non-Herlitz type	GLikely pathogenic
Select item 1705524	NM_000228.3(LAMB3):c.298+5G>C	LAMB3	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa, non-Herlitz type	GUncertain significance
Select item 1687260	NM_005562.3(LAMC2):c.1650C>A (p.Cys550Ter)	LAMC2 (C550*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa, non-Herlitz type	GPathogenic
Select item 1683769	NM_000228.3(LAMB3):c.628+2T>A	LAMB3	Single nucleotide variant (splice donor variant)	Junctional epidermolysis bullosa, non-Herlitz type +2 more	GLikely pathogenic
Select item 1683482	NM_000494.4(COL17A1):c.1880del (p.Gly627fs)	COL17A1 (G627fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1339211	NM_000494.4(COL17A1):c.509C>A (p.Ser170Ter)	COL17A1 (S170*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa, non-Herlitz type	GLikely pathogenic
Select item 1339112	NM_000494.4(COL17A1):c.3595G>T (p.Glu1199Ter)	COL17A1 (E1199*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa, non-Herlitz type	GLikely pathogenic
Select item 1333523	NM_005562.3(LAMC2):c.1043del (p.Ile348fs)	LAMC2 (I348fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa, non-Herlitz type	GPathogenic
Select item 1332785	NM_005562.3(LAMC2):c.3451C>T (p.Gln1151Ter)	LAMC2 (Q1151*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa, non-Herlitz type	GPathogenic
Select item 1301693	NM_000228.3(LAMB3):c.3247C>T (p.Gln1083Ter)	LAMB3 (Q1083*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa, non-Herlitz type	GPathogenic
Select item 1250597	NM_000213.5(ITGB4):c.3474+21T>C	ITGB4	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa, non-Herlitz type +3 more	GBenign
Select item 1240734	NM_000213.5(ITGB4):c.5054-25C>G	GALK1, ITGB4	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1217341	NM_000494.4(COL17A1):c.979+27T>A	COL17A1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1217340	NM_000494.4(COL17A1):c.1465+48A>G	COL17A1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1199379	NM_005562.3(LAMC2):c.815A>G (p.Asp272Gly)	LAMC2 (D272G)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GUncertain significance
Select item 1199378	NM_005562.3(LAMC2):c.2278G>A (p.Glu760Lys)	LAMC2 (E760K)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GUncertain significance
Select item 1199377	NM_000228.3(LAMB3):c.1727C>T (p.Pro576Leu)	LAMB3 (P576L)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa, non-Herlitz type +1 more	GUncertain significance
Select item 1199328	NM_000228.3(LAMB3):c.3008G>C (p.Gly1003Ala)	LAMB3 (G1003A)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GUncertain significance
Select item 1199327	NM_198129.4(LAMA3):c.839C>T (p.Pro280Leu)	LAMA3 (P280L)	Single nucleotide variant (missense variant +1 more)	Junctional epidermolysis bullosa gravis of Herlitz +2 more	GUncertain significance
Select item 1199326	NM_198129.4(LAMA3):c.8381C>T (p.Ser2794Leu)	LAMA3 (S1129L +3 more)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa gravis of Herlitz +2 more	GUncertain significance
Select item 1184702	NM_198129.4(LAMA3):c.565+64G>T	LAMA3	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa gravis of Herlitz +3 more	GBenign
Select item 1184665	NM_198129.4(LAMA3):c.7778+97T>C	LAMA3	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa gravis of Herlitz +3 more	GBenign
Select item 1184664	NM_198129.4(LAMA3):c.6201+53A>G	LAMA3	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa gravis of Herlitz +3 more	GBenign
Select item 1184663	NM_198129.4(LAMA3):c.5462-44G>A	LAMA3	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa gravis of Herlitz +3 more	GBenign
Select item 1184638	NM_198129.4(LAMA3):c.2304+67G>T	LAMA3	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa, non-Herlitz type +3 more	GBenign
Select item 1184637	NM_198129.4(LAMA3):c.2304+44A>C	LAMA3	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa, non-Herlitz type +3 more	GBenign
Select item 1184636	NM_198129.4(LAMA3):c.1942-74G>C	LAMA3	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1184635	NM_198129.4(LAMA3):c.1183-110C>T	LAMA3	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1184634	NM_198129.4(LAMA3):c.1064-15A>G	LAMA3	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1184633	NM_198129.4(LAMA3):c.948-84C>T	LAMA3	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1180485	NM_000228.3(LAMB3):c.2556+60C>T	LAMB3	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa gravis of Herlitz +3 more	GBenign
Select item 1180480	NM_000228.3(LAMB3):c.184-70A>G	LAMB3	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa gravis of Herlitz +3 more	GBenign
Select item 1180479	NM_005562.3(LAMC2):c.641-80C>T	LAMC2	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa gravis of Herlitz +2 more	GBenign
Select item 1180478	NM_005562.3(LAMC2):c.405-31T>C	LAMC2	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa gravis of Herlitz +2 more	GBenign
Select item 1180469	NM_000228.3(LAMB3):c.1289-186G>A	LAMB3	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa, non-Herlitz type +3 more	GBenign
Select item 1180468	NM_000228.3(LAMB3):c.1289-52G>A	LAMB3	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa, non-Herlitz type +3 more	GBenign
Select item 1180455	NM_000228.3(LAMB3):c.1976+169T>C	LAMB3	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1179566	NM_198129.4(LAMA3):c.4137-87A>G	LAMA3	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa gravis of Herlitz +3 more	GBenign
Select item 1174485	NM_000494.4(COL17A1):c.4041T>G (p.Tyr1347Ter)	COL17A1 (Y1347*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa, non-Herlitz type	GPathogenic
Select item 1173102	NM_000213.5(ITGB4):c.4664G>A (p.Arg1555Gln)	GALK1, ITGB4 (R1485Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1164815	NM_198129.4(LAMA3):c.3622C>A (p.Pro1208Thr)	LAMA3 (P1208T)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1071051	NM_000228.3(LAMB3):c.823-1G>A	LAMB3	Single nucleotide variant (splice acceptor variant)	Junctional epidermolysis bullosa gravis of Herlitz +2 more	GPathogenic
Select item 1050101	NM_000228.3(LAMB3):c.2632C>T (p.Arg878Cys)	LAMB3 (R878C)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa gravis of Herlitz +2 more	GUncertain significance
Select item 1034117	NM_000228.3(LAMB3):c.2963G>A (p.Arg988Gln)	LAMB3 (R988Q)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta type 1A +3 more	GUncertain significance
Select item 1034116	NM_198129.4(LAMA3):c.7228T>A (p.Leu2410Met)	LAMA3 (L745M +3 more)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa, non-Herlitz type	GUncertain significance
Select item 1029877	NM_000494.4(COL17A1):c.505C>T (p.Arg169Ter)	COL17A1 (R169*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa, non-Herlitz type	GPathogenic
Select item 1029726	NM_198129.4(LAMA3):c.9781A>G (p.Ser3261Gly)	LAMA3 (S3261G +3 more)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa, non-Herlitz type +1 more	GUncertain significance
Select item 918057	NM_000228.3(LAMB3):c.1939G>T (p.Glu647Ter)	LAMB3 (E647*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GPathogenic
Select item 880159	NM_000494.4(COL17A1):c.93A>G (p.Pro31=)	COL17A1	Single nucleotide variant (synonymous variant)	COL17A1-related disorder +2 more	GBenign/Likely benign
Select item 880158	NM_000494.4(COL17A1):c.186C>T (p.Ser62=)	COL17A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 880157	NM_000494.4(COL17A1):c.284G>T (p.Gly95Val)	COL17A1 (G95V)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa, non-Herlitz type	GUncertain significance
Select item 880117	NM_000494.4(COL17A1):c.1267+6T>C	COL17A1	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa, non-Herlitz type	GUncertain significance
Select item 880054	NM_000494.4(COL17A1):c.2145A>G (p.Lys715=)	COL17A1	Single nucleotide variant (synonymous variant)	Junctional epidermolysis bullosa, non-Herlitz type +1 more	GConflicting classifications of pathogenicity
Select item 880053	NM_000494.4(COL17A1):c.2194G>A (p.Ala732Thr)	COL17A1 (A732T)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa, non-Herlitz type +1 more	GUncertain significance
Select item 879945	NM_000494.4(COL17A1):c.3778C>T (p.Arg1260Cys)	COL17A1 (R1260C)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa, non-Herlitz type	GUncertain significance
Select item 879944	NM_000494.4(COL17A1):c.3788T>C (p.Ile1263Thr)	COL17A1 (I1263T)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa, non-Herlitz type +1 more	GUncertain significance
Select item 879943	NM_000494.4(COL17A1):c.3865A>G (p.Ser1289Gly)	COL17A1 (S1289G)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa, non-Herlitz type	GUncertain significance
Select item 879942	NM_000494.4(COL17A1):c.3955G>A (p.Gly1319Ser)	COL17A1 (G1319S)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa, non-Herlitz type	GUncertain significance
Select item 879941	NM_000494.4(COL17A1):c.3992C>G (p.Ala1331Gly)	COL17A1 (A1331G)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa, non-Herlitz type	GUncertain significance
Select item 879900	NM_000494.4(COL17A1):c.*823T>G	COL17A1	Single nucleotide variant (3 prime UTR variant)	Junctional epidermolysis bullosa, non-Herlitz type	GUncertain significance
Select item 879635	NM_000494.4(COL17A1):c.3209-8C>T	COL17A1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity

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