ClinVar for MedGen (Select 862758) - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1300084	NM_153490.3(KRT13):c.114C>T (p.Ser38=)	KRT13	Single nucleotide variant (synonymous variant)	White sponge nevus 2	GBenign
Select item 1300083	NM_153490.3(KRT13):c.892A>G (p.Thr298Ala)	KRT13 (T298A)	Single nucleotide variant (missense variant)	White sponge nevus 2	GBenign
Select item 892506	NM_153490.3(KRT13):c.*175G>A	KRT13	Single nucleotide variant (3 prime UTR variant)	White sponge nevus 2	GUncertain significance
Select item 892505	NM_153490.3(KRT13):c.*268C>T	KRT13	Single nucleotide variant (3 prime UTR variant)	White sponge nevus 2	GBenign
Select item 892504	NM_153490.3(KRT13):c.*274T>C	KRT13	Single nucleotide variant (3 prime UTR variant)	White sponge nevus 2	GBenign
Select item 891626	NM_153490.3(KRT13):c.823G>A (p.Ala275Thr)	KRT13 (A275T)	Single nucleotide variant (missense variant)	White sponge nevus 2	GUncertain significance
Select item 891625	NM_153490.3(KRT13):c.853G>A (p.Ala285Thr)	KRT13 (A285T)	Single nucleotide variant (missense variant)	White sponge nevus 2	GUncertain significance
Select item 891434	NM_153490.3(KRT13):c.9C>T (p.Leu3=)	KRT13	Single nucleotide variant (synonymous variant)	White sponge nevus 2	GLikely benign
Select item 891433	NM_153490.3(KRT13):c.291C>T (p.Gly97=)	KRT13	Single nucleotide variant (synonymous variant)	KRT13-related disorder +1 more	GLikely benign
Select item 889891	NM_153490.3(KRT13):c.523C>G (p.Arg175Gly)	KRT13 (R175G)	Single nucleotide variant (missense variant)	White sponge nevus 2	GUncertain significance
Select item 889825	NM_153490.3(KRT13):c.1220G>A (p.Ser407Asn)	KRT13 (S407N)	Single nucleotide variant (missense variant)	White sponge nevus 2 +1 more	GUncertain significance
Select item 889824	NM_153490.3(KRT13):c.1238A>T (p.Asp413Val)	KRT13 (D413V)	Single nucleotide variant (missense variant)	White sponge nevus 2	GLikely benign
Select item 889209	NM_153490.3(KRT13):c.637C>T (p.Arg213Trp)	KRT13 (R213W)	Single nucleotide variant (missense variant)	White sponge nevus 2	GBenign
Select item 889145	NM_153490.3(KRT13):c.1295C>G (p.Ser432Cys)	KRT13 (S432C)	Single nucleotide variant (3 prime UTR variant +1 more)	White sponge nevus 2	GUncertain significance
Select item 889144	NM_153490.3(KRT13):c.1350C>T (p.Arg450=)	KRT13	Single nucleotide variant (3 prime UTR variant +1 more)	White sponge nevus 2	GUncertain significance
Select item 889143	NM_153490.3(KRT13):c.1366C>T (p.Arg456Cys)	KRT13 (R456C)	Single nucleotide variant (3 prime UTR variant +1 more)	White sponge nevus 2	GBenign
Select item 889142	NM_153490.3(KRT13):c.*19C>T	KRT13	Single nucleotide variant (3 prime UTR variant)	White sponge nevus 2	GUncertain significance
Select item 889141	NM_153490.3(KRT13):c.*162T>C	KRT13	Single nucleotide variant (3 prime UTR variant)	White sponge nevus 2	GUncertain significance
Select item 323108	NM_153490.3(KRT13):c.-45C>A	KRT13	Single nucleotide variant (5 prime UTR variant)	White sponge nevus 2	GLikely benign
Select item 323107	NM_153490.3(KRT13):c.177T>C (p.Ser59=)	KRT13	Single nucleotide variant (synonymous variant)	White sponge nevus 2	GBenign
Select item 323106	NM_153490.3(KRT13):c.204C>A (p.Gly68=)	KRT13	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 323105	NM_153490.3(KRT13):c.337G>A (p.Asp113Asn)	KRT13 (D113N)	Single nucleotide variant (missense variant)	White sponge nevus 2	GUncertain significance
Select item 323104	NM_153490.3(KRT13):c.384C>T (p.Ala128=)	KRT13	Single nucleotide variant (synonymous variant)	White sponge nevus 2 +1 more	GBenign
Select item 323103	NM_153490.3(KRT13):c.409C>T (p.Arg137Cys)	KRT13 (R137C)	Single nucleotide variant (missense variant)	White sponge nevus 2 +1 more	GBenign
Select item 323102	NM_153490.3(KRT13):c.420C>T (p.His140=)	KRT13	Single nucleotide variant (synonymous variant)	White sponge nevus 2	GBenign
Select item 323101	NM_153490.3(KRT13):c.437C>G (p.Ala146Gly)	KRT13 (A146G)	Single nucleotide variant (missense variant)	KRT13-related disorder +2 more	GBenign
Select item 323100	NM_153490.3(KRT13):c.449G>A (p.Arg150Gln)	KRT13 (R150Q)	Single nucleotide variant (missense variant)	White sponge nevus 2	GBenign
Select item 323099	NM_153490.3(KRT13):c.496-9A>G	KRT13	Single nucleotide variant (intron variant)	White sponge nevus 2	GUncertain significance
Select item 323098	NM_153490.3(KRT13):c.509C>G (p.Thr170Ser)	KRT13 (T170S)	Single nucleotide variant (missense variant)	White sponge nevus 2 +1 more	GConflicting classifications of pathogenicity
Select item 323096	NM_153490.3(KRT13):c.560C>T (p.Ala187Val)	KRT13 (A187V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 323095	NM_153490.3(KRT13):c.610G>A (p.Val204Met)	KRT13 (V204M)	Single nucleotide variant (missense variant)	White sponge nevus 2	GLikely benign
Select item 323094	NM_153490.3(KRT13):c.735+6C>T	KRT13	Single nucleotide variant (intron variant)	White sponge nevus 2 +1 more	GBenign
Select item 323093	NM_153490.3(KRT13):c.735+10A>G	KRT13	Single nucleotide variant (intron variant)	White sponge nevus 2	GBenign
Select item 323092	NM_153490.3(KRT13):c.736-7C>G	KRT13	Single nucleotide variant (intron variant)	White sponge nevus 2 +2 more	GBenign
Select item 323091	NM_153490.3(KRT13):c.759G>C (p.Gln253His)	KRT13 (Q253H)	Single nucleotide variant (missense variant)	White sponge nevus 2	GUncertain significance
Select item 323090	NM_153490.3(KRT13):c.765C>T (p.Val255=)	KRT13	Single nucleotide variant (synonymous variant)	KRT13-related disorder +1 more	GBenign/Likely benign
Select item 323089	NM_153490.3(KRT13):c.766G>A (p.Gly256Ser)	KRT13 (G256S)	Single nucleotide variant (missense variant)	White sponge nevus 2 +1 more	GConflicting classifications of pathogenicity
Select item 323088	NM_153490.3(KRT13):c.767G>A (p.Gly256Asp)	KRT13 (G256D)	Single nucleotide variant (missense variant)	KRT13-related disorder +1 more	GBenign/Likely benign
Select item 323087	NM_153490.3(KRT13):c.815G>A (p.Arg272His)	KRT13 (R272H)	Single nucleotide variant (missense variant)	White sponge nevus 2 +1 more	GBenign/Likely benign
Select item 323086	NM_153490.3(KRT13):c.844G>A (p.Glu282Lys)	KRT13 (E282K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 323085	NM_153490.3(KRT13):c.869G>A (p.Arg290Gln)	KRT13 (R290Q)	Single nucleotide variant (missense variant)	White sponge nevus 2 +1 more	GBenign
Select item 323084	NM_153490.3(KRT13):c.897+6C>T	KRT13	Single nucleotide variant (intron variant)	White sponge nevus 2 +1 more	GBenign
Select item 323083	NM_153490.3(KRT13):c.947C>T (p.Thr316Ile)	KRT13 (T316I)	Single nucleotide variant (missense variant)	White sponge nevus 2	GBenign
Select item 323082	NM_153490.3(KRT13):c.991C>T (p.Leu331=)	KRT13	Single nucleotide variant (synonymous variant)	White sponge nevus 2	GUncertain significance
Select item 323081	NM_153490.3(KRT13):c.1009T>C (p.Ser337Pro)	KRT13 (S337P)	Single nucleotide variant (missense variant)	KRT13-related disorder +1 more	GBenign/Likely benign
Select item 323080	NM_153490.3(KRT13):c.1028C>T (p.Ala343Val)	KRT13 (A343V)	Single nucleotide variant (missense variant)	White sponge nevus 2 +1 more	GBenign/Likely benign
Select item 323079	NM_153490.3(KRT13):c.1133G>A (p.Arg378His)	KRT13 (R378H)	Single nucleotide variant (missense variant)	White sponge nevus 2	GBenign
Select item 323078	NM_153490.3(KRT13):c.1217G>T (p.Arg406Leu)	KRT13 (R406L)	Single nucleotide variant (missense variant)	White sponge nevus 2	GBenign
Select item 323077	NM_153490.3(KRT13):c.1227C>T (p.Leu409=)	KRT13	Single nucleotide variant (synonymous variant)	White sponge nevus 2	GBenign
Select item 323076	NM_153490.3(KRT13):c.1276G>A (p.Val426Ile)	KRT13 (R417H +1 more)	Single nucleotide variant (missense variant)	KRT13-related disorder +1 more	GBenign/Likely benign
Select item 323075	NM_153490.3(KRT13):c.1286G>A (p.Arg429His)	KRT13 (R429H)	Single nucleotide variant (synonymous variant +1 more)	White sponge nevus 2 +1 more	GBenign
Select item 323074	NM_153490.3(KRT13):c.1352G>A (p.Arg451His)	KRT13 (R451H)	Single nucleotide variant (3 prime UTR variant +1 more)	White sponge nevus 2	GBenign
Select item 323073	NM_153490.3(KRT13):c.*74A>C	KRT13	Single nucleotide variant (3 prime UTR variant)	White sponge nevus 2	GUncertain significance
Select item 323072	NM_153490.3(KRT13):c.*85C>T	KRT13	Single nucleotide variant (3 prime UTR variant)	White sponge nevus 2	GUncertain significance
Select item 323071	NM_153490.3(KRT13):c.*170C>T	KRT13	Single nucleotide variant (3 prime UTR variant)	White sponge nevus 2 +1 more	GBenign
Select item 323070	NM_153490.3(KRT13):c.*171G>T	KRT13	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 323069	NM_153490.3(KRT13):c.*228C>G	KRT13	Single nucleotide variant (3 prime UTR variant)	White sponge nevus 2	GUncertain significance
Select item 66751	NM_153490.3(KRT13):c.332T>C (p.Leu111Pro)	KRT13 (L111P)	Single nucleotide variant (missense variant)	White sponge nevus 2	GPathogenic
Select item 14629	NM_153490.3(KRT13):c.356T>C (p.Leu119Pro)	KRT13 (L119P)	Single nucleotide variant (missense variant)	White sponge nevus 2	GPathogenic

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Links from MedGen

Items: 59