ClinVar for MedGen (Select 36311) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068227	NM_000094.4(COL7A1):c.3637TTC[1] (p.Phe1214del)	COL7A1 (F1214del)	Microsatellite (inframe_deletion)	Recessive dystrophic epidermolysis bullosa	GUncertain significance
Select item 3065521	NM_000094.4(COL7A1):c.6246_6254del (p.Thr2083_Gly2085del)	COL7A1	Deletion (inframe_deletion)	Recessive dystrophic epidermolysis bullosa	GUncertain significance
Select item 3065440	NM_000094.4(COL7A1):c.4466G>A (p.Gly1489Asp)	COL7A1 (G1489D)	Single nucleotide variant (missense variant)	Recessive dystrophic epidermolysis bullosa	GLikely pathogenic
Select item 3065186	NM_000094.4(COL7A1):c.7733G>C (p.Gly2578Ala)	COL7A1 (G2578A)	Single nucleotide variant (missense variant)	Recessive dystrophic epidermolysis bullosa	GUncertain significance
Select item 3064926	NM_000094.4(COL7A1):c.4959del (p.Ala1654fs)	COL7A1 (A1654fs)	Deletion (frameshift variant)	Recessive dystrophic epidermolysis bullosa	GUncertain significance
Select item 3064448	NM_000094.4(COL7A1):c.8359-16G>A	COL7A1	Single nucleotide variant (intron variant)	Recessive dystrophic epidermolysis bullosa	GUncertain significance
Select item 3062272	NM_000094.4(COL7A1):c.4782+1G>A	COL7A1	Single nucleotide variant (splice donor variant)	Recessive dystrophic epidermolysis bullosa	GLikely pathogenic
Select item 3062266	NM_000094.4(COL7A1):c.4350_4351del (p.Glu1451fs)	COL7A1 (E1451fs)	Deletion (frameshift variant)	Recessive dystrophic epidermolysis bullosa	GLikely pathogenic
Select item 3062264	NM_000094.4(COL7A1):c.5053-5_5055dup	COL7A1	Duplication (splice acceptor variant)	Recessive dystrophic epidermolysis bullosa	GLikely pathogenic
Select item 2840931	NM_000094.4(COL7A1):c.476del (p.Ala159fs)	COL7A1 (A159fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 2707677	NM_000094.4(COL7A1):c.4667del (p.Lys1556fs)	COL7A1 (K1556fs)	Deletion (frameshift variant)	Recessive dystrophic epidermolysis bullosa +1 more	GPathogenic/Likely pathogenic
Select item 2627547	NM_000094.4(COL7A1):c.3974del (p.Lys1325fs)	COL7A1 (K1325fs)	Deletion (frameshift variant)	Recessive dystrophic epidermolysis bullosa	GLikely pathogenic
Select item 2627546	NM_000094.4(COL7A1):c.7157G>A (p.Gly2386Asp)	COL7A1 (G2386D)	Single nucleotide variant (missense variant)	Recessive dystrophic epidermolysis bullosa	GUncertain significance
Select item 2627511	NM_000094.4(COL7A1):c.7256G>A (p.Gly2419Asp)	COL7A1 (G2419D)	Single nucleotide variant (missense variant)	Recessive dystrophic epidermolysis bullosa	GUncertain significance
Select item 2627488	NM_000094.4(COL7A1):c.6652-2A>G	COL7A1	Single nucleotide variant (splice acceptor variant)	Recessive dystrophic epidermolysis bullosa	GLikely pathogenic
Select item 2627473	NM_000094.4(COL7A1):c.6023G>T (p.Arg2008Leu)	COL7A1 (R2008L)	Single nucleotide variant (missense variant)	Recessive dystrophic epidermolysis bullosa	GLikely pathogenic
Select item 2627421	NM_000094.4(COL7A1):c.2548G>T (p.Asp850Tyr)	COL7A1 (D850Y)	Single nucleotide variant (missense variant)	Recessive dystrophic epidermolysis bullosa	GUncertain significance
Select item 2585546	NM_000094.4(COL7A1):c.2441-6G>A	COL7A1	Single nucleotide variant (intron variant)	Recessive dystrophic epidermolysis bullosa	GUncertain significance
Select item 2585473	NM_000094.4(COL7A1):c.7069G>C (p.Gly2357Arg)	COL7A1 (G2357R)	Single nucleotide variant (missense variant)	Recessive dystrophic epidermolysis bullosa	GLikely pathogenic
Select item 2585230	NM_000094.4(COL7A1):c.8226+1G>C	COL7A1	Single nucleotide variant (splice donor variant)	Recessive dystrophic epidermolysis bullosa	GLikely pathogenic
Select item 2583124	NM_000094.4(COL7A1):c.793C>T (p.Gln265Ter)	COL7A1 (Q265*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2579680	NM_000094.4(COL7A1):c.8245G>T (p.Gly2749Ter)	COL7A1 (G2749*)	Single nucleotide variant (nonsense)	Recessive dystrophic epidermolysis bullosa	GLikely pathogenic
Select item 2579673	NM_000094.4(COL7A1):c.3678_3681del (p.Ser1227fs)	COL7A1 (S1227fs)	Microsatellite (frameshift variant)	Recessive dystrophic epidermolysis bullosa	GLikely pathogenic
Select item 2577011	NM_000094.4(COL7A1):c.3595C>T (p.Gln1199Ter)	COL7A1 (Q1199*)	Single nucleotide variant (nonsense)	Recessive dystrophic epidermolysis bullosa +3 more	GLikely pathogenic
Select item 2575089	NM_000094.4(COL7A1):c.7624G>A (p.Gly2542Arg)	COL7A1 (G2542R)	Single nucleotide variant (missense variant)	Recessive dystrophic epidermolysis bullosa	GLikely pathogenic
Select item 2444339	NM_000094.4(COL7A1):c.6927G>C (p.Lys2309Asn)	COL7A1 (K2309N)	Single nucleotide variant (missense variant)	Recessive dystrophic epidermolysis bullosa	GUncertain significance
Select item 2444105	NM_000094.4(COL7A1):c.8109+5G>C	COL7A1	Single nucleotide variant (intron variant)	Recessive dystrophic epidermolysis bullosa	GUncertain significance
Select item 2442788	NM_000094.4(COL7A1):c.4237_4241delinsACAGA (p.Pro1413_Gly1414delinsThrAsp)	COL7A1	Indel (missense variant)	Recessive dystrophic epidermolysis bullosa	GUncertain significance
Select item 2203369	NM_000094.4(COL7A1):c.5870G>A (p.Arg1957Gln)	COL7A1 (R1957Q)	Single nucleotide variant (missense variant)	Recessive dystrophic epidermolysis bullosa +1 more	GConflicting classifications of pathogenicity
Select item 2202540	NM_000094.4(COL7A1):c.6448G>A (p.Gly2150Ser)	COL7A1 (G2150S)	Single nucleotide variant (missense variant)	Recessive dystrophic epidermolysis bullosa +1 more	GConflicting classifications of pathogenicity
Select item 2190742	NM_000094.4(COL7A1):c.5830C>T (p.Arg1944Trp)	COL7A1 (R1944W)	Single nucleotide variant (missense variant)	Recessive dystrophic epidermolysis bullosa +1 more	GConflicting classifications of pathogenicity
Select item 2148332	NM_000094.4(COL7A1):c.5022_5030dup (p.Asp1677_Pro1678insGlnGlyAsp)	COL7A1	Duplication (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1804149	NM_000094.4(COL7A1):c.4250del (p.Gly1417fs)	COL7A1 (G1417fs)	Deletion (frameshift variant)	Recessive dystrophic epidermolysis bullosa	GPathogenic
Select item 1705667	NM_000094.4(COL7A1):c.5324del (p.Pro1775fs)	COL7A1 (P1775fs)	Deletion (frameshift variant)	Recessive dystrophic epidermolysis bullosa	GPathogenic
Select item 1705525	NM_000094.4(COL7A1):c.6759_6760del (p.Gly2254fs)	COL7A1 (G2254fs)	Deletion (frameshift variant)	Recessive dystrophic epidermolysis bullosa	GPathogenic
Select item 1705398	NM_000094.4(COL7A1):c.8075G>A (p.Gly2692Asp)	COL7A1 (G2692D)	Single nucleotide variant (missense variant)	Recessive dystrophic epidermolysis bullosa	GLikely pathogenic
Select item 1695729	NM_000094.4(COL7A1):c.6738G>T (p.Leu2246Phe)	COL7A1 (L2246F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1687653	NM_000094.4(COL7A1):c.8780G>A (p.Arg2927His)	COL7A1 (R2927H)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 1683714	NM_000094.4(COL7A1):c.6760G>A (p.Gly2254Arg)	COL7A1 (G2254R)	Single nucleotide variant (missense variant)	Recessive dystrophic epidermolysis bullosa +1 more	GLikely pathogenic
Select item 1683683	NM_000094.4(COL7A1):c.5077A>G (p.Lys1693Glu)	COL7A1 (K1693E)	Single nucleotide variant (missense variant)	Recessive dystrophic epidermolysis bullosa +1 more	GUncertain significance
Select item 1683676	NM_000094.4(COL7A1):c.5053-2A>G	COL7A1	Single nucleotide variant (splice acceptor variant)	Recessive dystrophic epidermolysis bullosa +1 more	GLikely pathogenic
Select item 1683661	NM_000094.4(COL7A1):c.5018G>A (p.Gly1673Glu)	COL7A1 (G1673E)	Single nucleotide variant (missense variant)	Recessive dystrophic epidermolysis bullosa +1 more	GLikely pathogenic
Select item 1676652	NM_000094.4(COL7A1):c.6697G>A (p.Gly2233Ser)	COL7A1 (G2233S)	Single nucleotide variant	Recessive dystrophic epidermolysis bullosa +3 more	GConflicting classifications of pathogenicity
Select item 1676639	NM_000094.4(COL7A1):c.977-1G>C	COL7A1	Single nucleotide variant (splice acceptor variant)	Recessive dystrophic epidermolysis bullosa	GLikely pathogenic
Select item 1676638	NM_000094.4(COL7A1):c.8729G>T (p.Gly2910Val)	COL7A1 (G2910V)	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1676637	NM_000094.4(COL7A1):c.8244del (p.Gly2749fs)	COL7A1 (G2749fs)	Deletion	Recessive dystrophic epidermolysis bullosa	GPathogenic
Select item 1676636	NM_000094.4(COL7A1):c.8200G>C (p.Gly2734Arg)	COL7A1 (G2734R)	Single nucleotide variant	Recessive dystrophic epidermolysis bullosa	GLikely pathogenic
Select item 1676635	NM_000094.4(COL7A1):c.80A>T (p.Glu27Val)	COL7A1 (E27V)	Single nucleotide variant	Recessive dystrophic epidermolysis bullosa	GUncertain significance
Select item 1676634	NM_000094.4(COL7A1):c.8046+3A>T	COL7A1	Single nucleotide variant	Recessive dystrophic epidermolysis bullosa	GUncertain significance
Select item 1676633	NM_000094.3(COL7A1):c.7760del	COL7A1	Deletion (genic downstream transcript variant)	Recessive dystrophic epidermolysis bullosa	GPathogenic
Select item 1676632	NM_000094.4(COL7A1):c.7521+2T>C	COL7A1	Single nucleotide variant (splice donor variant)	Recessive dystrophic epidermolysis bullosa	GLikely pathogenic
Select item 1676631	NM_000094.4(COL7A1):c.7017C>T (p.Gly2339=)	COL7A1	Single nucleotide variant	Transient bullous dermolysis of the newborn +2 more	GPathogenic/Likely pathogenic
Select item 1676630	NM_000094.4(COL7A1):c.6832G>C (p.Gly2278Arg)	COL7A1 (G2278R)	Single nucleotide variant	Recessive dystrophic epidermolysis bullosa	GUncertain significance
Select item 1676629	NM_000094.4(COL7A1):c.6733G>A (p.Gly2245Ser)	COL7A1 (G2245S)	Single nucleotide variant	Recessive dystrophic epidermolysis bullosa	GPathogenic
Select item 1676628	NM_000094.4(COL7A1):c.6647G>A (p.Gly2216Glu)	COL7A1 (G2216E)	Single nucleotide variant	not provided +1 more	GPathogenic
Select item 1676627	NM_000094.4(COL7A1):c.6573+5G>A	COL7A1	Single nucleotide variant	Recessive dystrophic epidermolysis bullosa	GPathogenic
Select item 1676626	NM_000094.4(COL7A1):c.6073G>A (p.Gly2025Ser)	COL7A1 (G2025S)	Single nucleotide variant	Recessive dystrophic epidermolysis bullosa	GPathogenic
Select item 1676625	NM_000094.4(COL7A1):c.5679del (p.Pro1894fs)	COL7A1 (P1894fs)	Deletion	Recessive dystrophic epidermolysis bullosa	GPathogenic
Select item 1676624	NM_000094.4(COL7A1):c.5669G>T (p.Gly1890Val)	COL7A1 (G1890V)	Single nucleotide variant	Recessive dystrophic epidermolysis bullosa	GUncertain significance
Select item 1676623	NM_000094.4(COL7A1):c.4999G>T (p.Gly1667Trp)	COL7A1 (G1667W)	Single nucleotide variant	Recessive dystrophic epidermolysis bullosa	GUncertain significance
Select item 1676622	NM_000094.4(COL7A1):c.4827_4834del (p.Gly1610fs)	COL7A1 (G1610fs)	Deletion	Recessive dystrophic epidermolysis bullosa	GPathogenic
Select item 1676621	NM_000094.3(COL7A1):c.4603del	COL7A1	Deletion	Recessive dystrophic epidermolysis bullosa	GPathogenic
Select item 1676620	NM_000094.4(COL7A1):c.4583G>A (p.Gly1528Asp)	COL7A1 (G1528D)	Single nucleotide variant	Recessive dystrophic epidermolysis bullosa	GUncertain significance
Select item 1676619	NM_000094.4(COL7A1):c.4342-2A>G	COL7A1	Single nucleotide variant (splice acceptor variant)	Recessive dystrophic epidermolysis bullosa	GPathogenic
Select item 1676618	NM_000094.4(COL7A1):c.3545_3550del (p.Ala1182_Ser1183del)	COL7A1	Deletion	Recessive dystrophic epidermolysis bullosa	GUncertain significance
Select item 1676617	NM_000094.4(COL7A1):c.329_332dup (p.Ser111_Tyr112insTer)	COL7A1	Duplication	not provided +1 more	GPathogenic
Select item 1676616	NM_000094.4(COL7A1):c.2711-1G>C	COL7A1	Single nucleotide variant (splice acceptor variant)	Recessive dystrophic epidermolysis bullosa	GLikely pathogenic
Select item 1676615	NM_000094.4(COL7A1):c.1507+4A>T	COL7A1	Single nucleotide variant	Recessive dystrophic epidermolysis bullosa	GLikely pathogenic
Select item 1676614	NM_000094.4(COL7A1):c.8416_8417del (p.Gly2806fs)	COL7A1 (G2806fs)	Deletion	Recessive dystrophic epidermolysis bullosa	GPathogenic
Select item 1676613	NM_000094.4(COL7A1):c.8357_8358+4del	COL7A1	Deletion	Recessive dystrophic epidermolysis bullosa	GPathogenic
Select item 1676612	NM_000094.4(COL7A1):c.7929+11_7929+26del	COL7A1	Deletion	Recessive dystrophic epidermolysis bullosa	GUncertain significance
Select item 1676611	NM_000094.4(COL7A1):c.7104+3A>T	COL7A1	Single nucleotide variant	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1676610	NM_000094.4(COL7A1):c.6926A>C (p.Lys2309Thr)	COL7A1 (K2309T)	Single nucleotide variant	Recessive dystrophic epidermolysis bullosa	GLikely pathogenic
Select item 1676609	NM_000094.4(COL7A1):c.343_344del (p.Gly115fs)	COL7A1 (G115fs)	Deletion	Recessive dystrophic epidermolysis bullosa	GPathogenic
Select item 1676608	NM_000094.4(COL7A1):c.6280-2_6281del	COL7A1	Deletion	Recessive dystrophic epidermolysis bullosa	GPathogenic
Select item 1526197	NM_000094.4(COL7A1):c.5668G>A (p.Gly1890Ser)	COL7A1 (G1890S)	Single nucleotide variant (missense variant)	Recessive dystrophic epidermolysis bullosa	GUncertain significance
Select item 1526116	NM_000094.4(COL7A1):c.4635+5G>A	COL7A1	Single nucleotide variant (intron variant)	Recessive dystrophic epidermolysis bullosa	GUncertain significance
Select item 1526043	NM_000094.4(COL7A1):c.5560G>A (p.Gly1854Arg)	COL7A1 (G1854R)	Single nucleotide variant (missense variant)	Recessive dystrophic epidermolysis bullosa +1 more	GPathogenic/Likely pathogenic
Select item 1526040	NM_000094.4(COL7A1):c.6145G>A (p.Gly2049Arg)	COL7A1 (G2049R)	Single nucleotide variant (missense variant)	Recessive dystrophic epidermolysis bullosa	GUncertain significance
Select item 1494915	NM_000094.4(COL7A1):c.4552A>G (p.Lys1518Glu)	COL7A1 (K1518E)	Single nucleotide variant (missense variant)	Generalized dominant dystrophic epidermolysis bullosa +7 more	GUncertain significance
Select item 1477502	NM_000094.4(COL7A1):c.4011G>A (p.Pro1337=)	COL7A1	Single nucleotide variant (synonymous variant)	Recessive dystrophic epidermolysis bullosa +1 more	GPathogenic
Select item 1470123	NM_000094.4(COL7A1):c.1268C>T (p.Pro423Leu)	COL7A1 (P423L)	Single nucleotide variant (missense variant)	Generalized dominant dystrophic epidermolysis bullosa +7 more	GConflicting classifications of pathogenicity
Select item 1458618	NM_000094.4(COL7A1):c.676C>T (p.Arg226Ter)	COL7A1 (R226*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1458598	NM_000094.4(COL7A1):c.7708del (p.Asp2570fs)	COL7A1 (D2570fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1454264	NM_000094.4(COL7A1):c.7244dup (p.Met2415fs)	COL7A1 (M2415fs)	Duplication (frameshift variant)	Recessive dystrophic epidermolysis bullosa +1 more	GPathogenic
Select item 1452325	NM_000094.4(COL7A1):c.2708del (p.Glu903fs)	COL7A1 (E903fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1448969	NM_000094.4(COL7A1):c.7547dup (p.Gly2517_Asp2518insTer)	COL7A1	Duplication (frameshift variant)	Recessive dystrophic epidermolysis bullosa +1 more	GPathogenic/Likely pathogenic
Select item 1433841	NM_000094.4(COL7A1):c.3602G>A (p.Arg1201His)	COL7A1 (R1201H)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 1416511	NM_000094.4(COL7A1):c.5951C>T (p.Ser1984Leu)	COL7A1 (S1984L)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 1402177	NM_000094.4(COL7A1):c.3636del (p.Phe1213fs)	COL7A1 (F1213fs)	Deletion (frameshift variant)	Nonsyndromic congenital nail disorder 8 +7 more	GPathogenic/Likely pathogenic
Select item 1399818	NM_000094.4(COL7A1):c.5701G>A (p.Gly1901Ser)	COL7A1 (G1901S)	Single nucleotide variant (missense variant)	Nonsyndromic congenital nail disorder 8 +7 more	GUncertain significance
Select item 1393079	NM_000094.4(COL7A1):c.8219G>C (p.Gly2740Ala)	COL7A1 (G2740A)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1345133	NM_000094.4(COL7A1):c.4414C>A (p.Pro1472Thr)	COL7A1 (P1472T)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 1339199	NM_000094.4(COL7A1):c.7621C>T (p.Arg2541Ter)	COL7A1 (R2541*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1339157	NM_000094.4(COL7A1):c.8246G>A (p.Gly2749Glu)	COL7A1 (G2749E)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1339081	NM_000094.4(COL7A1):c.3276+1G>A	COL7A1	Single nucleotide variant (splice donor variant)	Recessive dystrophic epidermolysis bullosa	GLikely pathogenic
Select item 1339053	NM_000094.4(COL7A1):c.8569G>T (p.Glu2857Ter)	COL7A1 (E2857*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1339052	NM_000094.4(COL7A1):c.976+4A>T	COL7A1	Single nucleotide variant (intron variant)	Recessive dystrophic epidermolysis bullosa	GUncertain significance
Select item 1333712	NM_000094.4(COL7A1):c.5017G>A (p.Gly1673Arg)	COL7A1 (G1673R)	Single nucleotide variant (missense variant)	Recessive dystrophic epidermolysis bullosa	GLikely pathogenic
Select item 1333619	NM_000094.4(COL7A1):c.7115G>A (p.Gly2372Glu)	COL7A1 (G2372E)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity

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