"Ambry Genetics"[submitter] AND "KRT13"[gene] - ClinVar

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

Search results

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2473333	NM_153490.3(KRT13):c.1240G>A (p.Ala414Thr)	KRT13 (A414T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2553434	NM_153490.3(KRT13):c.1091A>G (p.Gln364Arg)	KRT13 (Q364R)	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 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 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 3116329	NM_153490.3(KRT13):c.770A>G (p.Gln257Arg)	KRT13 (Q257R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3289339	NM_153490.3(KRT13):c.752G>A (p.Ser251Asn)	KRT13 (S251N)	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 2340014	NM_153490.3(KRT13):c.715A>G (p.Met239Val)	KRT13 (M239V)	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 3289337	NM_153490.3(KRT13):c.662C>G (p.Ser221Cys)	KRT13 (S221C)	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 2230276	NM_153490.3(KRT13):c.602G>A (p.Arg201His)	KRT13 (R201H)	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 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 2256711	NM_153490.3(KRT13):c.476T>C (p.Ile159Thr)	KRT13 (I159T)	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 2287560	NM_153490.3(KRT13):c.410G>A (p.Arg137His)	KRT13 (R137H)	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 2349107	NM_153490.3(KRT13):c.368G>A (p.Arg123His)	KRT13 (R123H)	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 2304478	NM_153490.3(KRT13):c.362A>T (p.Lys121Met)	KRT13 (K121M)	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 2553687	NM_153490.3(KRT13):c.100A>G (p.Thr34Ala)	KRT13 (T34A)	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 2305192	NM_153490.3(KRT13):c.79C>T (p.Arg27Cys)	KRT13 (R27C)	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 3116325	NM_153490.3(KRT13):c.10C>T (p.Arg4Cys)	KRT13 (R4C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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: 33