"Illumina Laboratory Services, Illumina"[submitter] AND "KRT9"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 891687	NM_000226.4(KRT9):c.*318C>T	KRT9	Single nucleotide variant (3 prime UTR variant)	Epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 323109	NM_000226.4(KRT9):c.*309del	KRT9	Deletion (3 prime UTR variant)	Epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 891688	NM_000226.4(KRT9):c.*275A>C	KRT9	Single nucleotide variant (3 prime UTR variant)	Epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 891689	NM_000226.4(KRT9):c.*263T>C	KRT9	Single nucleotide variant (3 prime UTR variant)	Epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 323110	NM_000226.4(KRT9):c.*230T>C	KRT9	Single nucleotide variant (3 prime UTR variant)	Epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 891690	NM_000226.4(KRT9):c.*225T>C	KRT9	Single nucleotide variant (3 prime UTR variant)	Epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 323111	NM_000226.4(KRT9):c.*181G>A	KRT9	Single nucleotide variant (3 prime UTR variant)	Epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 891691	NM_000226.4(KRT9):c.*123T>C	KRT9	Single nucleotide variant (3 prime UTR variant)	Epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 323112	NM_000226.4(KRT9):c.*103C>G	KRT9	Single nucleotide variant (3 prime UTR variant)	Epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 889265	NM_000226.4(KRT9):c.*93C>T	KRT9	Single nucleotide variant (3 prime UTR variant)	Epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 889266	NM_000226.4(KRT9):c.*41-8C>T	KRT9	Single nucleotide variant (intron variant)	Epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 631770	NM_000226.4(KRT9):c.*40+2del	KRT9	Deletion (splice donor variant)	Epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 889267	NM_000226.4(KRT9):c.1869C>T (p.Ser623=)	KRT9	Single nucleotide variant (synonymous variant)	Epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 323113	NM_000226.4(KRT9):c.1839C>T (p.Tyr613=)	KRT9	Single nucleotide variant (synonymous variant)	Epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 323114	NM_000226.4(KRT9):c.1800C>T (p.Tyr600=)	KRT9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 889268	NM_000226.4(KRT9):c.1797C>T (p.Ser599=)	KRT9	Single nucleotide variant (synonymous variant)	Epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 323115	NM_000226.4(KRT9):c.1594G>A (p.Gly532Ser)	KRT9 (G532S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 323116	NM_000226.4(KRT9):c.1587T>C (p.Gly529=)	KRT9	Single nucleotide variant (synonymous variant)	Epidermolytic palmoplantar keratoderma +1 more	GBenign/Likely benign
Select item 323117	NM_000226.4(KRT9):c.1560C>T (p.Tyr520=)	KRT9	Single nucleotide variant (synonymous variant)	Epidermolytic palmoplantar keratoderma +1 more	GConflicting classifications of pathogenicity
Select item 889953	NM_000226.4(KRT9):c.1549G>A (p.Gly517Arg)	KRT9 (G517R)	Single nucleotide variant (missense variant)	Epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 323118	NM_000226.4(KRT9):c.1520G>T (p.Gly507Val)	KRT9 (G507V)	Single nucleotide variant (missense variant)	Epidermolytic palmoplantar keratoderma +1 more	GUncertain significance
Select item 323119	NM_000226.4(KRT9):c.1519G>C (p.Gly507Arg)	KRT9 (G507R)	Single nucleotide variant (missense variant)	Epidermolytic palmoplantar keratoderma +1 more	GUncertain significance
Select item 889954	NM_000226.4(KRT9):c.1457G>A (p.Gly486Glu)	KRT9 (G486E)	Single nucleotide variant (missense variant)	Epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 323120	NM_000226.4(KRT9):c.1407A>T (p.Gly469=)	KRT9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 323121	NM_000226.4(KRT9):c.1405G>A (p.Gly469Arg)	KRT9 (G469R)	Single nucleotide variant (missense variant)	Epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 323122	NM_000226.4(KRT9):c.1395-13C>T	KRT9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 323123	NM_000226.4(KRT9):c.1394T>G (p.Phe465Cys)	KRT9 (F465C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 891511	NM_000226.4(KRT9):c.1363C>T (p.His455Tyr)	KRT9 (H455Y)	Single nucleotide variant (missense variant)	Epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 323124	NM_000226.4(KRT9):c.1336C>T (p.Arg446Trp)	KRT9 (R446W)	Single nucleotide variant (missense variant)	Epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 323125	NM_000226.4(KRT9):c.1315C>T (p.Leu439Phe)	KRT9 (L439F)	Single nucleotide variant (missense variant)	Epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 891512	NM_000226.4(KRT9):c.1290C>T (p.Ile430=)	KRT9	Single nucleotide variant (synonymous variant)	KRT9-related condition +2 more	GConflicting classifications of pathogenicity
Select item 891513	NM_000226.4(KRT9):c.1275C>T (p.Asp425=)	KRT9	Single nucleotide variant (synonymous variant)	Epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 66145	NM_000226.4(KRT9):c.1216T>C (p.Cys406Arg)	KRT9 (C406R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 323126	NM_000226.4(KRT9):c.1170+8G>T	KRT9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 891758	NM_000226.4(KRT9):c.1127G>A (p.Gly376Asp)	KRT9 (G376D)	Single nucleotide variant (missense variant)	Epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 891759	NM_000226.4(KRT9):c.1126G>A (p.Gly376Ser)	KRT9 (G376S)	Single nucleotide variant (missense variant)	Epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 323127	NM_000226.4(KRT9):c.1125C>T (p.His375=)	KRT9	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 891760	NM_000226.4(KRT9):c.1120C>T (p.Arg374Trp)	KRT9 (R374W)	Single nucleotide variant (missense variant)	KRT9-related condition +2 more	GConflicting classifications of pathogenicity
Select item 891761	NM_000226.4(KRT9):c.1119C>T (p.Leu373=)	KRT9	Single nucleotide variant (synonymous variant)	Epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 323128	NM_000226.4(KRT9):c.1096A>G (p.Ser366Gly)	KRT9 (S366G)	Single nucleotide variant (missense variant)	Epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 891762	NM_000226.4(KRT9):c.1069T>C (p.Ser357Pro)	KRT9 (S357P)	Single nucleotide variant (missense variant)	Epidermolytic palmoplantar keratoderma +1 more	GUncertain significance
Select item 889332	NM_000226.4(KRT9):c.1049C>T (p.Thr350Ile)	KRT9 (T350I)	Single nucleotide variant (missense variant)	Epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 323130	NM_000226.4(KRT9):c.1045-9G>A	KRT9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 323129	NM_000226.4(KRT9):c.1045-9G>T	KRT9	Single nucleotide variant (intron variant)	Epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 889333	NM_000226.4(KRT9):c.1021A>G (p.Ile341Val)	KRT9 (I341V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 323131	NM_000226.4(KRT9):c.1011C>T (p.Asn337=)	KRT9	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 323132	NM_000226.4(KRT9):c.948C>T (p.Gly316=)	KRT9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 889334	NM_000226.4(KRT9):c.855G>T (p.Leu285=)	KRT9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 323133	NM_000226.4(KRT9):c.726-9G>T	KRT9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 890014	NM_000226.4(KRT9):c.697C>T (p.Arg233Cys)	KRT9 (R233C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 323134	NM_000226.4(KRT9):c.644T>C (p.Ile215Thr)	KRT9 (I215T)	Single nucleotide variant (missense variant)	Epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 890015	NM_000226.4(KRT9):c.578G>A (p.Gly193Glu)	KRT9 (G193E)	Single nucleotide variant (missense variant)	Epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 323135	NM_000226.4(KRT9):c.540C>A (p.Asp180Glu)	KRT9 (D180E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 323136	NM_000226.4(KRT9):c.510G>A (p.Lys170=)	KRT9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 890016	NM_000226.4(KRT9):c.437G>A (p.Gly146Asp)	KRT9 (G146D)	Single nucleotide variant (missense variant)	Epidermolytic palmoplantar keratoderma	GLikely benign
Select item 66151	NM_000226.4(KRT9):c.429A>C (p.Gly143=)	KRT9	Single nucleotide variant (synonymous variant)	Epidermolytic palmoplantar keratoderma +1 more	GBenign
Select item 891571	NM_000226.4(KRT9):c.380A>G (p.Tyr127Cys)	KRT9 (Y127C)	Single nucleotide variant (missense variant)	Epidermolytic palmoplantar keratoderma +1 more	GUncertain significance
Select item 323137	NM_000226.4(KRT9):c.351T>C (p.Gly117=)	KRT9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 891572	NM_000226.4(KRT9):c.347G>A (p.Gly116Asp)	KRT9 (G116D)	Single nucleotide variant (missense variant)	Epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 891573	NM_000226.4(KRT9):c.291T>C (p.Phe97=)	KRT9	Single nucleotide variant (synonymous variant)	Epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 323138	NM_000226.4(KRT9):c.286G>A (p.Gly96Ser)	KRT9 (G96S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 891574	NM_000226.4(KRT9):c.250A>G (p.Ser84Gly)	KRT9 (S84G)	Single nucleotide variant (missense variant)	Epidermolytic palmoplantar keratoderma +1 more	GUncertain significance
Select item 323139	NM_000226.4(KRT9):c.245G>A (p.Ser82Asn)	KRT9 (S82N)	Single nucleotide variant (missense variant)	KRT9-related condition +2 more	GBenign/Likely benign
Select item 323140	NM_000226.4(KRT9):c.222C>T (p.Gly74=)	KRT9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 891829	NM_000226.4(KRT9):c.212A>G (p.Tyr71Cys)	KRT9 (Y71C)	Single nucleotide variant (missense variant)	Epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 323141	NM_000226.4(KRT9):c.195C>T (p.Gly65=)	KRT9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 891830	NM_000226.4(KRT9):c.121G>A (p.Gly41Ser)	KRT9 (G41S)	Single nucleotide variant (missense variant)	Epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 323142	NM_000226.4(KRT9):c.72C>T (p.Ser24=)	KRT9	Single nucleotide variant (synonymous variant)	Epidermolytic palmoplantar keratoderma	GLikely benign
Select item 323143	NM_000226.4(KRT9):c.42C>T (p.Ser14=)	KRT9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 891831	NM_000226.4(KRT9):c.-23A>G	KRT9	Single nucleotide variant (5 prime UTR variant)	Epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 323144	NM_000226.4(KRT9):c.-31G>A	KRT9	Single nucleotide variant (5 prime UTR variant)	Epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 323145	NM_000226.4(KRT9):c.-50C>T	KRT9	Single nucleotide variant (5 prime UTR variant)	Epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 323146	NM_000226.4(KRT9):c.-57T>C	KRT9	Single nucleotide variant (5 prime UTR variant)	Epidermolytic palmoplantar keratoderma	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 73