ClinVar for MedGen (Select 36328) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2627667	NM_005562.3(LAMC2):c.1904C>G (p.Ser635Ter)	LAMC2 (S635*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 2585116	NM_000228.3(LAMB3):c.2557-2A>C	LAMB3	Single nucleotide variant (splice acceptor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 2584967	NM_005562.3(LAMC2):c.195C>A (p.Cys65Ter)	LAMC2 (C65*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 2584816	NM_198129.4(LAMA3):c.5613+1G>A	LAMA3	Single nucleotide variant (splice donor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 2431515	NM_000228.3(LAMB3):c.-38+1G>T	LAMB3, LOC126805999	Single nucleotide variant (splice donor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 1726963	NM_005562.3(LAMC2):c.1326_1327insAGAATGTCAAA (p.Ala443fs)	LAMC2 (A443fs)	Insertion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 1726932	NM_005562.3(LAMC2):c.176del (p.Asn59fs)	LAMC2 (N59fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
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 1726903	NM_005562.3(LAMC2):c.2706G>A (p.Trp902Ter)	LAMC2 (W902*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	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 1726704	NM_005562.3(LAMC2):c.2944A>T (p.Lys982Ter)	LAMC2 (K982*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 1726622	NM_005562.3(LAMC2):c.2755A>T (p.Lys919Ter)	LAMC2 (K919*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	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 1726495	NM_005562.3(LAMC2):c.1469_1470insACTGTCTCTTATACACA (p.Ala491fs)	LAMC2 (A491fs)	Insertion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 1726479	NM_005562.3(LAMC2):c.2748_2752delinsAGAA (p.Arg917fs)	LAMC2 (R917fs)	Indel (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 1726468	NM_005562.3(LAMC2):c.1120_1121insACTGTCTCTTATA (p.Ala374fs)	LAMC2 (A374fs)	Insertion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	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 1726396	NM_005562.3(LAMC2):c.2965A>T (p.Lys989Ter)	LAMC2 (K989*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 1726223	NM_005562.3(LAMC2):c.252C>A (p.Cys84Ter)	LAMC2 (C84*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	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 1726125	NM_005562.3(LAMC2):c.2362dup (p.Gln788fs)	LAMC2 (Q788fs)	Duplication (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	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 1726076	NM_005562.3(LAMC2):c.2631dup (p.Ala878fs)	LAMC2 (A878fs)	Duplication (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 1726074	NM_005562.3(LAMC2):c.2213dup (p.Asn739fs)	LAMC2 (N739fs)	Duplication (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 1726016	NM_005562.3(LAMC2):c.1907del (p.Lys636fs)	LAMC2 (K636fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	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 1725763	NM_005562.3(LAMC2):c.1003G>T (p.Glu335Ter)	LAMC2 (E335*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	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 1725661	NM_005562.3(LAMC2):c.851_852insTGCTGAGTGT (p.His285fs)	LAMC2 (H285fs)	Insertion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	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 1725368	NM_005562.3(LAMC2):c.2372C>A (p.Ser791Ter)	LAMC2 (S791*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	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 1725241	NM_005562.3(LAMC2):c.1347del (p.Tyr450fs)	LAMC2 (Y450fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 1725192	NM_005562.3(LAMC2):c.2738del (p.Gly913fs)	LAMC2 (G913fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	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 1725078	NM_005562.3(LAMC2):c.927T>A (p.Cys309Ter)	LAMC2 (C309*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	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 1724731	NM_005562.3(LAMC2):c.2470A>T (p.Lys824Ter)	LAMC2 (K824*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	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 1724609	NM_005562.3(LAMC2):c.1720delinsTT (p.Asn574fs)	LAMC2 (N574fs)	Indel (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	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 1724214	NM_005562.3(LAMC2):c.651_654del (p.Trp218fs)	LAMC2 (W218fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	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 1724149	NM_005562.3(LAMC2):c.2898del (p.Ala967fs)	LAMC2 (A967fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	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 1724023	NM_005562.3(LAMC2):c.1796del (p.Gly599fs)	LAMC2 (G599fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 1724004	NM_005562.3(LAMC2):c.2578G>T (p.Gly860Ter)	LAMC2 (G860*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	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 1723936	NM_005562.3(LAMC2):c.2234C>G (p.Ser745Ter)	LAMC2 (S745*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 1723917	NM_005562.3(LAMC2):c.825_826insCTGTCTCTTATCATCT (p.Asp276delinsLeuSerLeuIleIleTer)	LAMC2	Insertion (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 1685921	NM_005562.3(LAMC2):c.1066+1del	LAMC2	Deletion (splice donor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GPathogenic
Select item 1339239	NM_000228.3(LAMB3):c.1A>T (p.Met1Leu)	LAMB3 (M1L)	Single nucleotide variant (missense variant +1 more)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 1339201	NM_000228.3(LAMB3):c.428G>A (p.Trp143Ter)	LAMB3 (W143*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GPathogenic/Likely pathogenic
Select item 1332711	NM_000228.3(LAMB3):c.622del (p.Ile208fs)	LAMB3 (I208fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz +2 more	GPathogenic/Likely pathogenic
Select item 1252054	NM_198129.4(LAMA3):c.8302C>T (p.Arg2768Ter)	LAMA3 (R1103* +3 more)	Single nucleotide variant (nonsense)	Epidermolysis bullosa, junctional 2B, severe	GPathogenic
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 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 1068583	NM_000228.3(LAMB3):c.1702C>T (p.Gln568Ter)	LAMB3 (Q568*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1067977	NM_005562.3(LAMC2):c.640+1G>A	LAMC2	Single nucleotide variant (splice donor variant)	not provided +3 more	GLikely pathogenic
Select item 1064673	NM_000228.3(LAMB3):c.1756C>T (p.Gln586Ter)	LAMB3 (Q586*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa +1 more	GLikely pathogenic
Select item 1050319	NM_198129.4(LAMA3):c.2332G>A (p.Gly778Arg)	LAMA3 (G778R)	Single nucleotide variant (missense variant)	Laryngo-onycho-cutaneous syndrome +3 more	GUncertain significance

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