ClinVar for MedGen (Select 343607) - ClinVar

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Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 1685663	NM_000094.4(COL7A1):c.3894+1G>A	COL7A1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1685661	NM_000094.4(COL7A1):c.4635+1G>A	COL7A1	Single nucleotide variant (splice donor variant)	Transient bullous dermolysis of the newborn	GPathogenic
Select item 1685286	NM_000094.4(COL7A1):c.2314+2T>G	COL7A1	Single nucleotide variant (splice donor variant)	Transient bullous dermolysis of the newborn	GLikely pathogenic
Select item 1685285	NM_000094.4(COL7A1):c.5425-1G>A	COL7A1	Single nucleotide variant (splice acceptor variant)	Transient bullous dermolysis of the newborn	GLikely pathogenic
Select item 1685283	NM_000094.4(COL7A1):c.6035G>T (p.Gly2012Val)	COL7A1 (G2012V)	Single nucleotide variant (missense variant)	Transient bullous dermolysis of the newborn	GLikely pathogenic
Select item 1685282	NM_000094.4(COL7A1):c.6187C>G (p.Arg2063Gly)	COL7A1 (R2063G)	Single nucleotide variant (missense variant)	Transient bullous dermolysis of the newborn	GLikely pathogenic
Select item 1685281	NM_000094.4(COL7A1):c.6502-1G>A	COL7A1	Single nucleotide variant (splice acceptor variant)	Transient bullous dermolysis of the newborn	GLikely pathogenic
Select item 1685280	NM_000094.4(COL7A1):c.6638G>A (p.Gly2213Glu)	COL7A1 (G2213E)	Single nucleotide variant (missense variant)	Transient bullous dermolysis of the newborn	GLikely pathogenic
Select item 1685279	NM_000094.4(COL7A1):c.8109+1G>T	COL7A1	Single nucleotide variant (splice donor variant)	Transient bullous dermolysis of the newborn	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 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 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 1459513	NM_000094.4(COL7A1):c.6751-2_6751-1del	COL7A1	Deletion (splice acceptor variant)	not provided +1 more	GPathogenic
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 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 1324153	NM_000094.4(COL7A1):c.6023G>A (p.Arg2008His)	COL7A1 (R2008H)	Single nucleotide variant (missense variant)	Transient bullous dermolysis of the newborn +1 more	GPathogenic/Likely pathogenic
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 1073553	NM_000094.4(COL7A1):c.2722C>T (p.Gln908Ter)	COL7A1 (Q908*)	Single nucleotide variant (nonsense)	Transient bullous dermolysis of the newborn +1 more	GPathogenic
Select item 1073113	NM_000094.4(COL7A1):c.4965C>T (p.Gly1655=)	COL7A1	Single nucleotide variant (synonymous variant)	COL7A1-related disorders +8 more	GPathogenic
Select item 1070885	NM_000094.4(COL7A1):c.565C>T (p.Gln189Ter)	COL7A1 (Q189*)	Single nucleotide variant (nonsense)	Nonsyndromic congenital nail disorder 8 +7 more	GPathogenic/Likely pathogenic
Select item 1048010	NM_000094.4(COL7A1):c.4012G>A (p.Gly1338Arg)	COL7A1 (G1338R)	Single nucleotide variant (missense variant)	Nonsyndromic congenital nail disorder 8 +8 more	GPathogenic/Likely pathogenic
Select item 1047975	NM_000094.4(COL7A1):c.1758del (p.Ser587fs)	COL7A1 (S587fs)	Deletion (frameshift variant)	Transient bullous dermolysis of the newborn +1 more	GPathogenic
Select item 1047970	NM_000094.4(COL7A1):c.325_326insCG (p.Glu109fs)	COL7A1 (E109fs)	Insertion (frameshift variant)	Epidermolysis bullosa dystrophica +4 more	GPathogenic
Select item 1047934	NM_000094.4(COL7A1):c.58_70del (p.Arg20fs)	COL7A1 (R20fs)	Deletion (frameshift variant)	Nonsyndromic congenital nail disorder 8 +7 more	GPathogenic
Select item 1046873	NM_000094.4(COL7A1):c.3203G>A (p.Arg1068His)	COL7A1 (R1068H)	Single nucleotide variant (missense variant)	Nonsyndromic congenital nail disorder 8 +7 more	GConflicting classifications of pathogenicity
Select item 1032188	NM_000094.4(COL7A1):c.8304+1G>A	COL7A1	Single nucleotide variant (splice donor variant)	Nonsyndromic congenital nail disorder 8 +7 more	GPathogenic/Likely pathogenic
Select item 991884	NM_000094.4(COL7A1):c.302G>T (p.Gly101Val)	COL7A1 (G101V)	Single nucleotide variant (missense variant)	Recessive dystrophic epidermolysis bullosa +6 more	GUncertain significance
Select item 991840	NM_000094.4(COL7A1):c.4278G>A (p.Pro1426=)	COL7A1	Single nucleotide variant (synonymous variant)	not provided +7 more	GUncertain significance
Select item 991831	NM_000094.4(COL7A1):c.4978C>T (p.Arg1660Trp)	COL7A1 (R1660W)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 991830	NM_000094.4(COL7A1):c.4987C>A (p.Pro1663Thr)	COL7A1 (P1663T)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 991494	NM_000094.4(COL7A1):c.5929C>T (p.Arg1977Cys)	COL7A1 (R1977C)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 991493	NM_000094.4(COL7A1):c.6021C>A (p.Asp2007Glu)	COL7A1 (D2007E)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 991490	NM_000094.4(COL7A1):c.6261C>A (p.Pro2087=)	COL7A1	Single nucleotide variant (synonymous variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 990877	NM_000094.4(COL7A1):c.1215C>T (p.Pro405=)	COL7A1	Single nucleotide variant (synonymous variant)	not provided +7 more	GLikely benign
Select item 990824	NM_000094.4(COL7A1):c.7036C>T (p.Arg2346Cys)	COL7A1 (R2346C)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 990822	NM_000094.4(COL7A1):c.7334C>T (p.Pro2445Leu)	COL7A1 (P2445L)	Single nucleotide variant (missense variant)	Recessive dystrophic epidermolysis bullosa +6 more	GUncertain significance
Select item 990813	NM_000094.4(COL7A1):c.8289C>T (p.Gly2763=)	COL7A1	Single nucleotide variant (synonymous variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 990214	NM_000094.4(COL7A1):c.2202G>A (p.Glu734=)	COL7A1	Single nucleotide variant (synonymous variant)	Recessive dystrophic epidermolysis bullosa +7 more	GLikely benign
Select item 990209	NM_000094.4(COL7A1):c.2548G>A (p.Asp850Asn)	COL7A1 (D850N)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 990205	NM_000094.4(COL7A1):c.2734C>T (p.Leu912=)	COL7A1	Single nucleotide variant (synonymous variant)	not provided +7 more	GLikely benign
Select item 990199	NM_000094.4(COL7A1):c.3039G>T (p.Gln1013His)	COL7A1 (Q1013H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +8 more	GConflicting classifications of pathogenicity
Select item 989745	NM_000094.4(COL7A1):c.3826C>T (p.Leu1276Phe)	COL7A1 (L1276F)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 989733	NM_000094.4(COL7A1):c.4162C>T (p.Arg1388Cys)	COL7A1 (R1388C)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 989696	NM_000094.4(COL7A1):c.8457T>C (p.Tyr2819=)	COL7A1	Single nucleotide variant (synonymous variant)	not provided +7 more	GLikely benign
Select item 902546	NM_000094.4(COL7A1):c.3566T>C (p.Met1189Thr)	COL7A1 (M1189T)	Single nucleotide variant (missense variant)	Epidermolysis bullosa dystrophica +8 more	GUncertain significance
Select item 902472	NM_000094.4(COL7A1):c.4561G>C (p.Glu1521Gln)	COL7A1 (E1521Q)	Single nucleotide variant (missense variant)	Epidermolysis bullosa dystrophica +8 more	GUncertain significance
Select item 902471	NM_000094.4(COL7A1):c.4585C>T (p.Arg1529Cys)	COL7A1 (R1529C)	Single nucleotide variant (missense variant)	Recessive dystrophic epidermolysis bullosa +8 more	GConflicting classifications of pathogenicity
Select item 900873	NM_000094.4(COL7A1):c.4000C>T (p.Arg1334Cys)	COL7A1 (R1334C)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 900799	NM_000094.4(COL7A1):c.4889G>A (p.Arg1630Gln)	COL7A1 (R1630Q)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 899655	NM_000094.4(COL7A1):c.5086C>T (p.Arg1696Cys)	COL7A1 (R1696C)	Single nucleotide variant (missense variant)	not provided +10 more	GConflicting classifications of pathogenicity
Select item 864784	NM_000094.4(COL7A1):c.4018C>T (p.Arg1340Ter)	COL7A1 (R1340*)	Single nucleotide variant (nonsense)	Transient bullous dermolysis of the newborn +7 more	GPathogenic
Select item 791243	NM_000094.4(COL7A1):c.4613G>A (p.Arg1538His)	COL7A1 (R1538H)	Single nucleotide variant (missense variant)	Dominant dystrophic epidermolysis bullosa with absence of skin +9 more	GBenign/Likely benign
Select item 783308	NM_000094.4(COL7A1):c.7191C>A (p.Pro2397=)	COL7A1	Single nucleotide variant (synonymous variant)	Dominant dystrophic epidermolysis bullosa with absence of skin +9 more	GBenign/Likely benign
Select item 774420	NM_000094.4(COL7A1):c.3359G>A (p.Arg1120Lys)	COL7A1 (R1120K)	Single nucleotide variant (missense variant)	Dominant dystrophic epidermolysis bullosa with absence of skin +9 more	GBenign/Likely benign
Select item 689753	NM_000094.4(COL7A1):c.7068+5G>A	COL7A1	Single nucleotide variant (intron variant)	Epidermolysis bullosa dystrophica +8 more	GConflicting classifications of pathogenicity
Select item 642141	NM_000094.4(COL7A1):c.7104+1G>A	COL7A1	Single nucleotide variant (splice donor variant)	Pretibial dystrophic epidermolysis bullosa +7 more	GLikely pathogenic
Select item 620088	NM_000094.4(COL7A1):c.4894C>T (p.Arg1632Ter)	COL7A1 (R1632*)	Single nucleotide variant (nonsense)	Epidermolysis bullosa pruriginosa +7 more	GPathogenic
Select item 503709	NM_000094.4(COL7A1):c.4027C>T (p.Arg1343Ter)	COL7A1 (R1343*)	Single nucleotide variant (nonsense)	Recessive dystrophic epidermolysis bullosa +7 more	GPathogenic
Select item 502658	NM_000094.4(COL7A1):c.1907G>T (p.Gly636Val)	COL7A1 (G636V)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 449472	NM_000094.4(COL7A1):c.409C>T (p.Arg137Ter)	COL7A1 (R137*)	Single nucleotide variant (nonsense)	Generalized dominant dystrophic epidermolysis bullosa +7 more	GPathogenic
Select item 449005	NM_000094.4(COL7A1):c.7864C>T (p.Arg2622Trp)	COL7A1 (R2622W)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 431810	NM_000094.4(COL7A1):c.5820G>A (p.Pro1940=)	COL7A1	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa pruriginosa +9 more	GConflicting classifications of pathogenicity
Select item 424628	NM_000094.4(COL7A1):c.8278G>A (p.Gly2760Arg)	COL7A1 (G2760R)	Single nucleotide variant (missense variant)	Epidermolysis bullosa pruriginosa +6 more	GLikely pathogenic
Select item 379476	NM_000094.4(COL7A1):c.6082G>A (p.Gly2028Arg)	COL7A1 (G2028R)	Single nucleotide variant (missense variant)	not provided +8 more	GPathogenic
Select item 374052	NM_000094.4(COL7A1):c.2005C>T (p.Arg669Ter)	COL7A1 (R669*)	Single nucleotide variant (nonsense)	not provided +16 more	GPathogenic
Select item 372349	NM_000094.4(COL7A1):c.7344G>A (p.Val2448=)	COL7A1	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa pruriginosa +7 more	GPathogenic
Select item 372345	NM_000094.4(COL7A1):c.6527dup (p.Gly2177fs)	COL7A1 (G2177fs)	Duplication (frameshift variant)	Generalized dominant dystrophic epidermolysis bullosa +12 more	GPathogenic
Select item 372342	NM_000094.4(COL7A1):c.5720_5721delinsAT (p.Gly1907Asp)	COL7A1 (G1907D)	Indel (missense variant)	not provided +7 more	GPathogenic
Select item 372340	NM_000094.4(COL7A1):c.5499C>T (p.Gly1833=)	COL7A1	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa pruriginosa +8 more	GPathogenic/Likely pathogenic
Select item 372334	NM_000094.4(COL7A1):c.4568del (p.Pro1523fs)	COL7A1 (P1523fs)	Deletion (frameshift variant)	not provided +7 more	GPathogenic
Select item 372332	NM_000094.4(COL7A1):c.3840del (p.Gly1281fs)	COL7A1 (G1281fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 372330	NM_000094.4(COL7A1):c.1732C>T (p.Arg578Ter)	COL7A1 (R578*)	Single nucleotide variant (nonsense)	not provided +8 more	GPathogenic
Select item 345881	NM_000094.4(COL7A1):c.802C>T (p.Pro268Ser)	COL7A1 (P268S)	Single nucleotide variant (missense variant)	not provided +9 more	GBenign/Likely benign
Select item 345869	NM_000094.4(COL7A1):c.1637-1G>A	COL7A1	Single nucleotide variant (splice acceptor variant)	Recessive dystrophic epidermolysis bullosa +8 more	GPathogenic/Likely pathogenic
Select item 345835	NM_000094.4(COL7A1):c.5572G>A (p.Glu1858Lys)	COL7A1 (E1858K)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 345810	NM_000094.4(COL7A1):c.7286C>T (p.Pro2429Leu)	COL7A1 (P2429L)	Single nucleotide variant (missense variant)	not provided +9 more	GBenign/Likely benign
Select item 279785	NM_000094.4(COL7A1):c.1573C>T (p.Arg525Ter)	COL7A1 (R525*)	Single nucleotide variant (nonsense)	not provided +8 more	GPathogenic
Select item 225324	NM_000094.4(COL7A1):c.2969G>A (p.Arg990Gln)	COL7A1 (R990Q)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 29636	NM_000094.4(COL7A1):c.425A>G (p.Lys142Arg)	COL7A1 (K142R)	Single nucleotide variant (missense variant)	Epidermolysis bullosa pruriginosa +12 more	GPathogenic
Select item 29635	NM_000094.4(COL7A1):c.4565G>A (p.Gly1522Glu)	COL7A1 (G1522E)	Single nucleotide variant (missense variant)	Transient bullous dermolysis of the newborn	GPathogenic
Select item 17463	NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys)	COL7A1 (R2069C)	Single nucleotide variant (missense variant)	COL7A1-related condition +23 more	GPathogenic/Likely pathogenic
Select item 17461	NM_000094.4(COL7A1):c.4120-1G>C	COL7A1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic/Likely pathogenic
Select item 17446	NM_000094.4(COL7A1):c.6091G>A (p.Gly2031Ser)	COL7A1 (G2031S)	Single nucleotide variant (missense variant)	Duane retraction syndrome +8 more	GConflicting classifications of pathogenicity
Select item 17441	NM_000094.4(COL7A1):c.7787del (p.Gly2596fs)	COL7A1 (G2596fs)	Deletion (frameshift variant)	COL7A1-related condition +8 more	GPathogenic
Select item 17437	NM_000094.4(COL7A1):c.4556G>A (p.Gly1519Asp)	COL7A1 (G1519D)	Single nucleotide variant (missense variant)	Transient bullous dermolysis of the newborn	GPathogenic
Select item 17436	NM_000094.4(COL7A1):c.6752G>A (p.Gly2251Glu)	COL7A1 (G2251E)	Single nucleotide variant (missense variant)	Transient bullous dermolysis of the newborn +2 more	GPathogenic
Select item 17425	NM_000094.4(COL7A1):c.2471dup (p.Asn825fs)	COL7A1 (N825fs)	Duplication (frameshift variant)	COL7A1-related condition +8 more	GPathogenic

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Items: 92