ClinVar for MedGen (Select 86896) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068704	NM_201384.3(PLEC):c.7885G>A (p.Gly2629Ser)	PLEC (G1529S +7 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex	GUncertain significance
Select item 1048030	NM_201384.3(PLEC):c.9294del (p.Glu3099fs)	PLEC (E3067fs +6 more)	Deletion (frameshift variant)	Epidermolysis bullosa simplex	GPathogenic
Select item 1048029	NM_201384.3(PLEC):c.5663del (p.Lys1888fs)	PLEC (K1856fs +6 more)	Deletion (frameshift variant)	Epidermolysis bullosa simplex	GPathogenic
Select item 1048028	NM_201384.3(PLEC):c.3850C>T (p.Leu1284Phe)	PLEC (L1252F +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex +5 more	GConflicting classifications of pathogenicity
Select item 1048027	NM_000526.5(KRT14):c.1274+5G>C	KRT14	Single nucleotide variant (intron variant)	Epidermolysis bullosa simplex	GPathogenic
Select item 1048026	NM_000526.5(KRT14):c.1223T>A (p.Leu408Gln)	KRT14 (L408Q)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex	GPathogenic
Select item 1048025	NM_000526.5(KRT14):c.1205T>G (p.Leu402Arg)	KRT14 (L402R)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex	GPathogenic
Select item 1048024	NM_000526.5(KRT14):c.1144G>T (p.Glu382Ter)	KRT14 (E382*)	Single nucleotide variant (nonsense)	Epidermolysis bullosa simplex	GPathogenic
Select item 1047992	NM_000424.4(KRT5):c.1406C>G (p.Thr469Ser)	KRT5, LOC126861525 (T469S)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex +1 more	GConflicting classifications of pathogenicity
Select item 1047991	NM_000424.4(KRT5):c.1396G>C (p.Glu466Gln)	KRT5, LOC126861525 (E466Q)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex	GPathogenic
Select item 1047990	NM_000424.4(KRT5):c.961A>C (p.Thr321Pro)	KRT5 (T321P)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex	GPathogenic
Select item 1047989	NM_000424.4(KRT5):c.771delG	KRT5	Deletion (splice acceptor variant)	Epidermolysis bullosa simplex	GPathogenic
Select item 1047988	NM_000424.4(KRT5):c.587T>C (p.Leu196Pro)	KRT5, LOC126861526 (L196P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1047987	NM_000424.4(KRT5):c.571C>G (p.Gln191Glu)	LOC126861526, KRT5 (Q191E)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex	GPathogenic
Select item 1047955	NM_000424.4(KRT5):c.556-16C>G	KRT5, LOC126861526	Single nucleotide variant (intron variant)	Epidermolysis bullosa simplex	GPathogenic
Select item 884176	NM_000424.4(KRT5):c.247T>C (p.Phe83Leu)	KRT5 (F83L)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex	GUncertain significance
Select item 884175	NM_000424.4(KRT5):c.249C>T (p.Phe83=)	KRT5	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex	GUncertain significance
Select item 884127	NM_000424.4(KRT5):c.1244C>T (p.Ala415Val)	KRT5, LOC126861525 (A415V)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex	GUncertain significance
Select item 884126	NM_000424.4(KRT5):c.1263G>A (p.Gly421=)	KRT5, LOC126861525	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex	GUncertain significance
Select item 884125	NM_000424.4(KRT5):c.1344G>A (p.Arg448=)	KRT5, LOC126861525	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex	GUncertain significance
Select item 884124	NM_000424.4(KRT5):c.1495T>C (p.Ser499Pro)	KRT5 (S499P)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex	GLikely benign
Select item 882467	NM_000424.4(KRT5):c.364G>A (p.Gly122Ser)	KRT5 (G122S)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex	GUncertain significance
Select item 882419	NM_000424.4(KRT5):c.1621G>A (p.Gly541Ser)	KRT5 (G541S)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex	GUncertain significance
Select item 882418	NM_000424.4(KRT5):c.1676G>A (p.Arg559Gln)	KRT5 (R559Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 882223	NM_000424.4(KRT5):c.556-4C>A	KRT5, LOC126861526	Single nucleotide variant (intron variant)	Epidermolysis bullosa simplex	GUncertain significance
Select item 882222	NM_000424.4(KRT5):c.560G>A (p.Arg187Gln)	KRT5, LOC126861526 (R187Q)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex	GLikely benign
Select item 882168	NM_000424.4(KRT5):c.*232T>C	KRT5	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex	GUncertain significance
Select item 882167	NM_000424.4(KRT5):c.*271C>T	KRT5	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex	GUncertain significance
Select item 880896	NM_000424.4(KRT5):c.-7A>C	KRT5	Single nucleotide variant (5 prime UTR variant)	Epidermolysis bullosa simplex	GUncertain significance
Select item 880895	NM_000424.4(KRT5):c.72C>A (p.Thr24=)	KRT5	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex	GUncertain significance
Select item 880894	NM_000424.4(KRT5):c.78T>G (p.Ser26=)	KRT5	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex	GUncertain significance
Select item 880833	NM_000424.4(KRT5):c.907A>T (p.Met303Leu)	KRT5 (M303L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 880775	NM_000424.4(KRT5):c.*334A>G	KRT5	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex	GUncertain significance
Select item 790862	NM_000424.4(KRT5):c.57C>T (p.Thr19=)	KRT5	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex +1 more	GBenign
Select item 623145	NM_000424.4(KRT5):c.817del (p.Phe272_Val273insTer)	KRT5	Deletion (nonsense)	Epidermolysis bullosa simplex	GLikely pathogenic
Select item 309581	NM_000424.3(KRT5):c.-131A>G	KRT5	Single nucleotide variant	Epidermolysis bullosa simplex	GBenign
Select item 309580	NM_000424.3(KRT5):c.-109C>T	KRT5	Single nucleotide variant	Epidermolysis bullosa simplex	GUncertain significance
Select item 309579	NM_000424.4(KRT5):c.-81C>T	KRT5	Single nucleotide variant (5 prime UTR variant)	Epidermolysis bullosa simplex	GUncertain significance
Select item 309578	NM_000424.4(KRT5):c.-73T>C	KRT5	Single nucleotide variant (5 prime UTR variant)	Epidermolysis bullosa simplex	GBenign
Select item 309577	NM_000424.4(KRT5):c.-69C>T	KRT5	Single nucleotide variant (5 prime UTR variant)	Epidermolysis bullosa simplex	GUncertain significance
Select item 309576	NM_000424.4(KRT5):c.39C>T (p.Gly13=)	KRT5	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex +2 more	GBenign/Likely benign
Select item 309575	NM_000424.4(KRT5):c.110G>A (p.Arg37Gln)	KRT5 (R37Q)	Single nucleotide variant (missense variant)	not provided +9 more	GBenign/Likely benign
Select item 309574	NM_000424.4(KRT5):c.115G>A (p.Gly39Arg)	KRT5 (G39R)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex +1 more	GConflicting classifications of pathogenicity
Select item 309573	NM_000424.4(KRT5):c.123C>T (p.Gly41=)	KRT5	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex	GLikely benign
Select item 309572	NM_000424.4(KRT5):c.142A>C (p.Arg48=)	KRT5	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex +2 more	GBenign
Select item 309571	NM_000424.4(KRT5):c.259T>G (p.Phe87Val)	KRT5 (F87V)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex +2 more	GBenign
Select item 309570	NM_000424.4(KRT5):c.352G>A (p.Gly118Ser)	KRT5 (G118S)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex	GLikely benign
Select item 309569	NM_000424.4(KRT5):c.357C>A (p.Gly119=)	KRT5	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex	GLikely benign
Select item 309568	NM_000424.4(KRT5):c.381C>A (p.Phe127Leu)	KRT5 (F127L)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex	GUncertain significance
Select item 309567	NM_000424.4(KRT5):c.381C>T (p.Phe127=)	KRT5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 309566	NM_000424.4(KRT5):c.702G>T (p.Val234=)	KRT5, LOC126861526	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex	GUncertain significance
Select item 309565	NM_000424.4(KRT5):c.771-15C>T	KRT5	Single nucleotide variant (intron variant)	Epidermolysis bullosa simplex	GUncertain significance
Select item 309564	NM_000424.4(KRT5):c.877G>A (p.Val293Ile)	KRT5 (V293I)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex	GUncertain significance
Select item 309563	NM_000424.4(KRT5):c.1071C>T (p.Ala357=)	KRT5	Single nucleotide variant (synonymous variant)	KRT5-related disorder +2 more	GBenign/Likely benign
Select item 309562	NM_000424.4(KRT5):c.1118G>C (p.Gly373Ala)	KRT5, LOC126861525 (G373A)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex	GUncertain significance
Select item 309561	NM_000424.4(KRT5):c.1194C>T (p.Ala398=)	KRT5, LOC126861525	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 309560	NM_000424.4(KRT5):c.1236C>T (p.Asn412=)	KRT5, LOC126861525	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex +2 more	GBenign/Likely benign
Select item 309559	NM_000424.4(KRT5):c.1475-6C>T	KRT5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 309558	NM_000424.4(KRT5):c.1554C>A (p.Gly518=)	KRT5	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 309557	NM_000424.4(KRT5):c.1555G>A (p.Gly519Ser)	KRT5 (G519S)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex +2 more	GConflicting classifications of pathogenicity
Select item 309556	NM_000424.4(KRT5):c.1575C>T (p.Ala525=)	KRT5	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex	GUncertain significance
Select item 309555	NM_000424.4(KRT5):c.1705G>A (p.Gly569Arg)	KRT5 (G569R)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex +1 more	GBenign
Select item 309554	NM_000424.4(KRT5):c.1736C>A (p.Ser579Tyr)	KRT5 (S579Y)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex	GLikely benign
Select item 309553	NM_000424.4(KRT5):c.*59C>T	KRT5	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex	GUncertain significance
Select item 309552	NM_000424.4(KRT5):c.*134A>G	KRT5	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex	GUncertain significance
Select item 309551	NM_000424.4(KRT5):c.*185G>A	KRT5	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex	GBenign
Select item 309550	NM_000424.4(KRT5):c.*253C>T	KRT5	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex	GBenign
Select item 309549	NM_000424.4(KRT5):c.*263T>C	KRT5	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex	GBenign
Select item 309548	NM_000424.4(KRT5):c.*320T>A	KRT5	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex	GUncertain significance
Select item 309547	NM_000424.4(KRT5):c.*323T>C	KRT5	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex	GBenign
Select item 256044	NM_000424.4(KRT5):c.556-15C>T	KRT5, LOC126861526	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 256043	NM_000424.4(KRT5):c.351C>T (p.Leu117=)	KRT5	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 256042	NM_000424.4(KRT5):c.30G>A (p.Arg10=)	KRT5	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 256041	NM_000424.4(KRT5):c.156G>A (p.Ala52=)	KRT5	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 235206	NM_000424.4(KRT5):c.631G>A (p.Val211Met)	KRT5, LOC126861526 (V211M)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex +2 more	GBenign/Likely benign
Select item 66378	NM_000526.5(KRT14):c.815T>C (p.Met272Thr)	KRT14 (M272T)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 66375	NM_000526.5(KRT14):c.749del (p.Lys250fs)	KRT14 (K250fs)	Deletion (frameshift variant)	Epidermolysis bullosa simplex	GPathogenic
Select item 66358	NM_000526.5(KRT14):c.397G>T (p.Val133Leu)	KRT14 (V133L)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex +1 more	GPathogenic
Select item 66353	NM_000526.5(KRT14):c.385T>G (p.Tyr129Asp)	KRT14 (Y129D)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex	GPathogenic
Select item 66339	NM_000526.5(KRT14):c.346A>T (p.Lys116Ter)	KRT14 (K116*)	Single nucleotide variant (nonsense)	Epidermolysis bullosa simplex	GPathogenic
Select item 66322	NM_000526.5(KRT14):c.1244A>G (p.Tyr415Cys)	KRT14 (Y415C)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex	GPathogenic
Select item 66316	NM_000526.5(KRT14):c.1231_1233del (p.Glu411del)	KRT14 (E411del)	Deletion (inframe_deletion)	Epidermolysis bullosa simplex	GPathogenic
Select item 66295	NM_000424.4(KRT5):c.986A>G (p.Asn329Ser)	KRT5 (N329S)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex	GUncertain significance
Select item 66293	NM_000424.4(KRT5):c.983A>T (p.Asp328Val)	KRT5 (D328V)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex	GPathogenic
Select item 66283	NM_000424.4(KRT5):c.732G>A (p.Leu244=)	KRT5, LOC126861526	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex +2 more	GBenign
Select item 66282	NM_000424.4(KRT5):c.630T>C (p.Thr210=)	KRT5, LOC126861526	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 66277	NM_000424.4(KRT5):c.594C>A (p.Thr198=)	KRT5, LOC126861526	Single nucleotide variant (synonymous variant)	Dowling-Degos disease 1 +10 more	GBenign
Select item 66275	NM_000424.4(KRT5):c.591C>A (p.Asp197Glu)	KRT5, LOC126861526 (D197E)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex +2 more	GBenign
Select item 66268	NM_000424.4(KRT5):c.557T>A (p.Val186Glu)	KRT5, LOC126861526 (V186E)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex	GPathogenic
Select item 66267	NM_000424.4(KRT5):c.556G>A (p.Val186Met)	KRT5, LOC126861526 (V186M)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 66264	NM_000424.4(KRT5):c.555+9C>T	KRT5	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 66246	NM_000424.4(KRT5):c.495G>T (p.Arg165Ser)	KRT5 (R165S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 66234	NM_000424.4(KRT5):c.413G>A (p.Gly138Glu)	KRT5 (G138E)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 66224	NM_000424.4(KRT5):c.1627G>A (p.Gly543Ser)	KRT5 (G543S)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex +2 more	GBenign
Select item 66223	NM_000424.4(KRT5):c.1582A>G (p.Ser528Gly)	KRT5 (S528G)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 66213	NM_000424.4(KRT5):c.1411C>T (p.Arg471Cys)	KRT5, LOC126861525 (R471C)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex, Koebner type +4 more	GConflicting classifications of pathogenicity
Select item 66208	NM_000424.4(KRT5):c.1398G>C (p.Glu466Asp)	KRT5, LOC126861525 (E466D)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 66203	NM_000424.4(KRT5):c.1283C>T (p.Ala428Val)	KRT5, LOC126861525 (A428V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 66202	NM_000424.4(KRT5):c.1282G>A (p.Ala428Thr)	KRT5, LOC126861525 (A428T)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex	GPathogenic
Select item 66198	NM_000424.4(KRT5):c.1065A>C (p.Thr355=)	KRT5	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign

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