ClinVar for Gene (Select 3860) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 119

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3289339	NM_153490.3(KRT13):c.752G>A (p.Ser251Asn)	KRT13 (S251N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289338	NM_153490.3(KRT13):c.362A>G (p.Lys121Arg)	KRT13 (K121R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289337	NM_153490.3(KRT13):c.662C>G (p.Ser221Cys)	KRT13 (S221C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3116329	NM_153490.3(KRT13):c.770A>G (p.Gln257Arg)	KRT13 (Q257R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116327	NM_153490.3(KRT13):c.693C>G (p.Ser231Arg)	KRT13 (S231R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116326	NM_153490.3(KRT13):c.383C>A (p.Ala128Asp)	KRT13 (A128D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116325	NM_153490.3(KRT13):c.10C>T (p.Arg4Cys)	KRT13 (R4C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3046593	NM_153490.3(KRT13):c.1356T>G (p.Thr452=)	KRT13	Single nucleotide variant (3 prime UTR variant +1 more)	KRT13-related disorder	GLikely benign
Select item 3045314	NM_153490.3(KRT13):c.1064G>A (p.Arg355His)	KRT13 (R355H)	Single nucleotide variant (missense variant)	KRT13-related disorder	GLikely benign
Select item 3044939	NM_153490.3(KRT13):c.48C>T (p.Phe16=)	KRT13	Single nucleotide variant (synonymous variant)	KRT13-related disorder	GLikely benign
Select item 3042192	NM_153490.3(KRT13):c.1270+8A>G	KRT13	Single nucleotide variant (intron variant)	KRT13-related disorder	GBenign
Select item 3025520	NM_153490.3(KRT13):c.995A>G (p.Glu332Gly)	KRT13 (E332G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2553687	NM_153490.3(KRT13):c.100A>G (p.Thr34Ala)	KRT13 (T34A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553434	NM_153490.3(KRT13):c.1091A>G (p.Gln364Arg)	KRT13 (Q364R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532930	NM_153490.3(KRT13):c.427C>G (p.Gln143Glu)	KRT13 (Q143E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510572	NM_153490.3(KRT13):c.922T>C (p.Ser308Pro)	KRT13 (S308P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476053	NM_153490.3(KRT13):c.915G>C (p.Lys305Asn)	KRT13 (K305N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473333	NM_153490.3(KRT13):c.1240G>A (p.Ala414Thr)	KRT13 (A414T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472446	NM_153490.3(KRT13):c.543C>G (p.Asp181Glu)	KRT13 (D181E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468318	NM_153490.3(KRT13):c.514G>A (p.Glu172Lys)	KRT13 (E172K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349107	NM_153490.3(KRT13):c.368G>A (p.Arg123His)	KRT13 (R123H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340014	NM_153490.3(KRT13):c.715A>G (p.Met239Val)	KRT13 (M239V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305192	NM_153490.3(KRT13):c.79C>T (p.Arg27Cys)	KRT13 (R27C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304478	NM_153490.3(KRT13):c.362A>T (p.Lys121Met)	KRT13 (K121M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301349	NM_153490.3(KRT13):c.80G>A (p.Arg27His)	KRT13 (R27H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290561	NM_153490.3(KRT13):c.115G>A (p.Gly39Arg)	KRT13 (G39R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287560	NM_153490.3(KRT13):c.410G>A (p.Arg137His)	KRT13 (R137H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279615	NM_153490.3(KRT13):c.980C>T (p.Thr327Met)	KRT13 (T327M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256711	NM_153490.3(KRT13):c.476T>C (p.Ile159Thr)	KRT13 (I159T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246437	NM_153490.3(KRT13):c.11G>A (p.Arg4His)	KRT13 (R4H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240157	NM_153490.3(KRT13):c.622A>G (p.Ile208Val)	KRT13 (I208V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237891	NM_153490.3(KRT13):c.1275C>T (p.Ser425=)	KRT13 (R417C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2230276	NM_153490.3(KRT13):c.602G>A (p.Arg201His)	KRT13 (R201H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221259	NM_153490.3(KRT13):c.738G>T (p.Glu246Asp)	KRT13 (E246D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1300084	NM_153490.3(KRT13):c.114C>T (p.Ser38=)	KRT13	Single nucleotide variant (synonymous variant)	White sponge nevus 2 +1 more	GBenign
Select item 1300083	NM_153490.3(KRT13):c.892A>G (p.Thr298Ala)	KRT13 (T298A)	Single nucleotide variant (missense variant)	White sponge nevus 2 +1 more	GBenign
Select item 1290185	NC_000017.11:g.41505917C>T	KRT13	Single nucleotide variant	not provided	GBenign
Select item 1290052	NM_153490.3(KRT13):c.496-28A>G	KRT13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278895	NC_000017.11:g.41500927G>C	KRT13	Single nucleotide variant	not provided	GBenign
Select item 1278680	NC_000017.11:g.41505767G>A	KRT13	Single nucleotide variant	not provided	GBenign
Select item 1251738	NM_153490.3(KRT13):c.1244+27G>A	KRT13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249331	NM_153490.3(KRT13):c.496-266G>C	KRT13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248237	NM_153490.3(KRT13):c.495+33A>T	KRT13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179611	NM_153490.3(KRT13):c.579-29A>G	KRT13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178644	NM_153490.3(KRT13):c.898-27A>G	KRT13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1049311	NM_153490.3(KRT13):c.760G>C (p.Val254Leu)	KRT13 (V254L)	Single nucleotide variant (missense variant)	not specified	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)	White sponge nevus 2 +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 796259	NM_153490.3(KRT13):c.711C>T (p.Ala237=)	KRT13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 773315	NM_153490.3(KRT13):c.114= (p.Ser38=)	KRT13	Variation (no sequence alteration)	not provided	GBenign
Select item 762399	NM_153490.3(KRT13):c.676G>T (p.Glu226Ter)	KRT13 (E226*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 753332	NM_153490.3(KRT13):c.1273dup (p.Ser425fs)	KRT13 (S425fs +1 more)	Duplication (frameshift variant)	not provided	GBenign
Select item 711655	NM_153490.3(KRT13):c.199G>A (p.Gly67Ser)	KRT13 (G67S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
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 +1 more	GBenign
Select item 323106	NM_153490.3(KRT13):c.204C>A (p.Gly68=)	KRT13	Single nucleotide variant (synonymous variant)	White sponge nevus 2 +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	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)	White sponge nevus 2 +1 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)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 323097	NM_153490.3(KRT13):c.540T>C (p.Ile180=)	KRT13	Single nucleotide variant (synonymous variant)	White sponge nevus 1	GUncertain significance
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)	not provided +1 more	GBenign
Select item 323093	NM_153490.3(KRT13):c.735+10A>G	KRT13	Single nucleotide variant (intron variant)	White sponge nevus 2 +1 more	GBenign
Select item 323092	NM_153490.3(KRT13):c.736-7C>G	KRT13	Single nucleotide variant (intron variant)	not provided +1 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)	White sponge nevus 2 +1 more	GBenign
Select item 323089	NM_153490.3(KRT13):c.766G>A (p.Gly256Ser)	KRT13 (G256S)	Single nucleotide variant (missense variant)	White sponge nevus 2 +2 more	GConflicting classifications of pathogenicity
Select item 323088	NM_153490.3(KRT13):c.767G>A (p.Gly256Asp)	KRT13 (G256D)	Single nucleotide variant (missense variant)	White sponge nevus 2	GBenign
Select item 323087	NM_153490.3(KRT13):c.815G>A (p.Arg272His)	KRT13 (R272H)	Single nucleotide variant (missense variant)	White sponge nevus 2	GBenign
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)	White sponge nevus 2	GBenign
Select item 323080	NM_153490.3(KRT13):c.1028C>T (p.Ala343Val)	KRT13 (A343V)	Single nucleotide variant (missense variant)	White sponge nevus 2	GBenign
Select item 323079	NM_153490.3(KRT13):c.1133G>A (p.Arg378His)	KRT13 (R378H)	Single nucleotide variant (missense variant)	White sponge nevus 2	GBenign

<< First< Prev

Page of 2