ClinVar for MedGen (Select 98153) - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3251985	NM_000423.3(KRT2):c.557A>G (p.Asn186Ser)	KRT2 (N186S)	Single nucleotide variant (missense variant)	Ichthyosis bullosa of Siemens	GLikely pathogenic
Select item 883366	NM_000423.3(KRT2):c.546C>A (p.Ile182=)	KRT2	Single nucleotide variant (synonymous variant)	Ichthyosis bullosa of Siemens	GLikely benign
Select item 883365	NM_000423.3(KRT2):c.589C>A (p.Arg197=)	KRT2	Single nucleotide variant (synonymous variant)	Ichthyosis bullosa of Siemens	GBenign
Select item 883364	NM_000423.3(KRT2):c.800+9C>G	KRT2	Single nucleotide variant (intron variant)	Ichthyosis bullosa of Siemens	GUncertain significance
Select item 883313	NM_000423.3(KRT2):c.*125T>G	KRT2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis bullosa of Siemens	GUncertain significance
Select item 883312	NM_000423.3(KRT2):c.*263C>T	KRT2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis bullosa of Siemens	GUncertain significance
Select item 882580	NM_000423.3(KRT2):c.823C>G (p.Arg275Gly)	KRT2 (R275G)	Single nucleotide variant (missense variant)	Ichthyosis bullosa of Siemens	GBenign
Select item 882579	NM_000423.3(KRT2):c.1147G>A (p.Gly383Arg)	KRT2 (G383R)	Single nucleotide variant (missense variant)	Ichthyosis bullosa of Siemens	GBenign
Select item 882530	NM_000423.3(KRT2):c.*302T>C	KRT2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis bullosa of Siemens	GUncertain significance
Select item 882529	NM_000423.3(KRT2):c.*322G>C	KRT2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis bullosa of Siemens	GUncertain significance
Select item 882528	NM_000423.3(KRT2):c.*324C>T	KRT2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis bullosa of Siemens	GUncertain significance
Select item 882527	NM_000423.3(KRT2):c.*346A>T	KRT2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis bullosa of Siemens	GUncertain significance
Select item 882362	NM_000423.3(KRT2):c.290G>A (p.Gly97Glu)	KRT2 (G97E)	Single nucleotide variant (missense variant)	Ichthyosis bullosa of Siemens	GUncertain significance
Select item 882313	NM_000423.3(KRT2):c.1249-4A>G	KRT2	Single nucleotide variant (intron variant)	Ichthyosis bullosa of Siemens +1 more	GBenign
Select item 882264	NM_000423.3(KRT2):c.*438A>G	KRT2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis bullosa of Siemens	GUncertain significance
Select item 881005	NM_000423.3(KRT2):c.346G>C (p.Gly116Arg)	KRT2 (G116R)	Single nucleotide variant (missense variant)	Ichthyosis bullosa of Siemens	GUncertain significance
Select item 881004	NM_000423.3(KRT2):c.474C>T (p.Ser158=)	KRT2	Single nucleotide variant (synonymous variant)	Ichthyosis bullosa of Siemens +1 more	GBenign/Likely benign
Select item 881003	NM_000423.3(KRT2):c.492C>T (p.Asn164=)	KRT2	Single nucleotide variant (synonymous variant)	Ichthyosis bullosa of Siemens +1 more	GBenign/Likely benign
Select item 880954	NM_000423.3(KRT2):c.1698C>T (p.Gly566=)	KRT2	Single nucleotide variant (synonymous variant)	Ichthyosis bullosa of Siemens	GBenign
Select item 880953	NM_000423.3(KRT2):c.1699G>A (p.Gly567Ser)	KRT2 (G567S)	Single nucleotide variant (missense variant)	Ichthyosis bullosa of Siemens	GBenign
Select item 779152	NM_000423.3(KRT2):c.100C>T (p.Arg34Trp)	KRT2 (R34W)	Single nucleotide variant (missense variant)	Ichthyosis bullosa of Siemens +1 more	GBenign
Select item 768549	NM_000423.3(KRT2):c.303_304insGGC (p.Ser101_Phe102insGly)	KRT2	Insertion (inframe_insertion)	not provided +1 more	GBenign
Select item 714340	NM_000423.3(KRT2):c.317G>A (p.Ser106Asn)	KRT2 (S106N)	Single nucleotide variant (missense variant)	Ichthyosis bullosa of Siemens +1 more	GBenign
Select item 369021	NM_000423.2(KRT2):c.*466A>C	KRT2	Single nucleotide variant	Ichthyosis bullosa of Siemens	GLikely benign
Select item 309630	NM_000423.3(KRT2):c.52G>A (p.Gly18Arg)	KRT2 (G18R)	Single nucleotide variant (missense variant)	Ichthyosis bullosa of Siemens	GUncertain significance
Select item 309629	NM_000423.3(KRT2):c.58C>T (p.Arg20Trp)	KRT2 (R20W)	Single nucleotide variant (missense variant)	Ichthyosis bullosa of Siemens +1 more	GBenign
Select item 309628	NM_000423.3(KRT2):c.133C>T (p.Arg45Cys)	KRT2 (R45C)	Single nucleotide variant (missense variant)	Ichthyosis bullosa of Siemens	GBenign
Select item 309627	NM_000423.3(KRT2):c.134G>A (p.Arg45His)	KRT2 (R45H)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 309626	NM_000423.3(KRT2):c.150C>T (p.Gly50=)	KRT2	Single nucleotide variant (synonymous variant)	Ichthyosis bullosa of Siemens +1 more	GBenign
Select item 309625	NM_000423.3(KRT2):c.168C>T (p.Gly56=)	KRT2	Single nucleotide variant (synonymous variant)	Ichthyosis bullosa of Siemens +1 more	GBenign
Select item 309624	NM_000423.3(KRT2):c.294C>T (p.Gly98=)	KRT2	Single nucleotide variant (synonymous variant)	Ichthyosis bullosa of Siemens	GLikely benign
Select item 309623	NM_000423.3(KRT2):c.301A>G (p.Ser101Gly)	KRT2 (S101G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 309622	NM_000423.3(KRT2):c.301delinsGGCTTTGGAGGCGGCAGCG (p.Ser101delinsGlyPheGlyGlyGlySerGly)	KRT2	Indel (inframe_indel)	Ichthyosis bullosa of Siemens	GUncertain significance
Select item 309621	NM_000423.3(KRT2):c.339C>T (p.Phe113=)	KRT2	Single nucleotide variant (synonymous variant)	Ichthyosis bullosa of Siemens	GBenign
Select item 309620	NM_000423.3(KRT2):c.348C>T (p.Gly116=)	KRT2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 309619	NM_000423.3(KRT2):c.407G>A (p.Gly136Glu)	KRT2 (G136E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 309618	NM_000423.3(KRT2):c.536G>A (p.Arg179His)	KRT2 (R179H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 309617	NM_000423.3(KRT2):c.633G>A (p.Glu211=)	KRT2	Single nucleotide variant (synonymous variant)	Ichthyosis bullosa of Siemens	GUncertain significance
Select item 309616	NM_000423.3(KRT2):c.656G>A (p.Gly219Asp)	KRT2 (G219D)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 309615	NM_000423.3(KRT2):c.767A>G (p.Asn256Ser)	KRT2 (N256S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 309614	NM_000423.3(KRT2):c.768C>T (p.Asn256=)	KRT2	Single nucleotide variant (synonymous variant)	Ichthyosis bullosa of Siemens	GUncertain significance
Select item 309613	NM_000423.3(KRT2):c.861+6C>G	KRT2	Single nucleotide variant (intron variant)	Ichthyosis bullosa of Siemens	GBenign
Select item 309612	NM_000423.3(KRT2):c.864C>T (p.Asp288=)	KRT2	Single nucleotide variant (synonymous variant)	Ichthyosis bullosa of Siemens	GUncertain significance
Select item 309611	NM_000423.3(KRT2):c.940A>G (p.Lys314Glu)	KRT2 (K314E)	Single nucleotide variant (missense variant)	Ichthyosis bullosa of Siemens	GBenign
Select item 309610	NM_000423.3(KRT2):c.1051G>A (p.Glu351Lys)	KRT2 (E351K)	Single nucleotide variant (missense variant)	Ichthyosis bullosa of Siemens	GUncertain significance
Select item 309609	NM_000423.3(KRT2):c.1203C>T (p.Arg401=)	KRT2	Single nucleotide variant (synonymous variant)	Ichthyosis bullosa of Siemens	GBenign
Select item 309608	NM_000423.3(KRT2):c.1204G>A (p.Val402Met)	KRT2 (V402M)	Single nucleotide variant (missense variant)	Ichthyosis bullosa of Siemens	GLikely benign
Select item 309607	NM_000423.3(KRT2):c.1249-7G>T	KRT2	Single nucleotide variant (intron variant)	Ichthyosis bullosa of Siemens +1 more	GBenign
Select item 309606	NM_000423.3(KRT2):c.1272C>T (p.Ile424=)	KRT2	Single nucleotide variant (synonymous variant)	Ichthyosis bullosa of Siemens	GBenign
Select item 309605	NM_000423.3(KRT2):c.1281C>T (p.Ala427=)	KRT2	Single nucleotide variant (synonymous variant)	Ichthyosis bullosa of Siemens +1 more	GBenign
Select item 309604	NM_000423.3(KRT2):c.1289G>A (p.Arg430His)	KRT2 (R430H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 309603	NM_000423.3(KRT2):c.1355C>G (p.Ala452Gly)	KRT2 (A452G)	Single nucleotide variant (missense variant)	Ichthyosis bullosa of Siemens	GUncertain significance
Select item 309602	NM_000423.3(KRT2):c.1373G>A (p.Arg458Gln)	KRT2 (R458Q)	Single nucleotide variant (missense variant)	Ichthyosis bullosa of Siemens	GLikely benign
Select item 309601	NM_000423.3(KRT2):c.1478G>T (p.Gly493Val)	KRT2 (G493V)	Single nucleotide variant (missense variant)	Ichthyosis bullosa of Siemens +1 more	GConflicting classifications of pathogenicity
Select item 309600	NM_000423.3(KRT2):c.1500T>C (p.Thr500=)	KRT2	Single nucleotide variant (synonymous variant)	Ichthyosis bullosa of Siemens +1 more	GBenign
Select item 309599	NM_000423.3(KRT2):c.1550C>G (p.Ala517Gly)	KRT2 (A517G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 309598	NM_000423.3(KRT2):c.1650C>T (p.Gly550=)	KRT2	Single nucleotide variant (synonymous variant)	Ichthyosis bullosa of Siemens +1 more	GBenign
Select item 309597	NM_000423.3(KRT2):c.1719C>T (p.Tyr573=)	KRT2	Single nucleotide variant (synonymous variant)	Ichthyosis bullosa of Siemens	GLikely benign
Select item 309596	NM_000423.3(KRT2):c.1720G>A (p.Gly574Arg)	KRT2 (G574R)	Single nucleotide variant (missense variant)	Ichthyosis bullosa of Siemens	GLikely benign
Select item 309595	NM_000423.3(KRT2):c.1829G>T (p.Gly610Val)	KRT2 (G610V)	Single nucleotide variant (missense variant)	Ichthyosis bullosa of Siemens	GUncertain significance
Select item 309594	NM_000423.3(KRT2):c.1869G>T (p.Lys623Asn)	KRT2 (K623N)	Single nucleotide variant (missense variant)	Ichthyosis bullosa of Siemens	GUncertain significance
Select item 309593	NM_000423.3(KRT2):c.*42T>C	KRT2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 309592	NM_000423.3(KRT2):c.*215C>T	KRT2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 309591	NM_000423.3(KRT2):c.*216G>A	KRT2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis bullosa of Siemens	GLikely benign
Select item 309590	NM_000423.3(KRT2):c.*248C>T	KRT2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis bullosa of Siemens	GUncertain significance
Select item 309589	NM_000423.3(KRT2):c.*279T>C	KRT2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis bullosa of Siemens	GBenign
Select item 309588	NM_000423.3(KRT2):c.*289C>A	KRT2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis bullosa of Siemens	GUncertain significance
Select item 309587	NM_000423.3(KRT2):c.*300T>C	KRT2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis bullosa of Siemens	GBenign
Select item 309586	NM_000423.3(KRT2):c.*301G>A	KRT2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis bullosa of Siemens	GUncertain significance
Select item 309585	NM_000423.3(KRT2):c.*335A>G	KRT2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis bullosa of Siemens	GBenign
Select item 309584	NM_000423.3(KRT2):c.*354C>T	KRT2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis bullosa of Siemens	GBenign
Select item 309583	NM_000423.3(KRT2):c.*411C>T	KRT2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis bullosa of Siemens	GBenign
Select item 309582	NM_000423.3(KRT2):c.*447C>T	KRT2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis bullosa of Siemens	GBenign
Select item 9316	NM_000423.3(KRT2):c.558C>A (p.Asn186Lys)	KRT2 (N186K)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 9315	NM_000423.3(KRT2):c.556A>G (p.Asn186Asp)	KRT2 (N186D)	Single nucleotide variant (missense variant)	Ichthyosis bullosa of Siemens	GPathogenic
Select item 9314	NM_000423.3(KRT2):c.1426G>A (p.Glu476Lys)	KRT2 (E476K)	Single nucleotide variant (missense variant)	Ichthyosis bullosa of Siemens	GPathogenic
Select item 9313	NM_000423.3(KRT2):c.556A>T (p.Asn186Tyr)	KRT2 (N186Y)	Single nucleotide variant (missense variant)	Ichthyosis bullosa of Siemens	GPathogenic
Select item 9312	NM_000423.3(KRT2):c.1435A>C (p.Thr479Pro)	KRT2 (T479P)	Single nucleotide variant (missense variant)	Ichthyosis bullosa of Siemens	GPathogenic
Select item 9311	NM_000423.3(KRT2):c.542A>C (p.Gln181Pro)	KRT2 (Q181P)	Single nucleotide variant (missense variant)	Ichthyosis bullosa of Siemens	GPathogenic
Select item 9310	NM_000423.3(KRT2):c.1459G>A (p.Glu487Lys)	KRT2 (E487K)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 9309	NM_000423.3(KRT2):c.1461G>T (p.Glu487Asp)	KRT2 (E487D)	Single nucleotide variant (missense variant)	Ichthyosis bullosa of Siemens	GPathogenic

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Items: 81