"Ambry Genetics"[submitter] AND "KAT8"[gene] - ClinVar

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

Search results

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3112779	NM_032188.3(KAT8):c.12G>C (p.Gln4His)	KAT8 (Q4H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355761	NM_032188.3(KAT8):c.35_55dup (p.Ala18_Gly19insAlaGlyThrSerGlyValAla)	KAT8	Duplication (inframe_insertion)	Inborn genetic diseases	GUncertain significance
Select item 2558139	NM_032188.3(KAT8):c.76G>C (p.Gly26Arg)	KAT8 (G26R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214578	NM_032188.3(KAT8):c.115G>A (p.Gly39Ser)	KAT8 (G39S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3112780	NM_032188.3(KAT8):c.133A>G (p.Thr45Ala)	KAT8 (T45A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214946	NM_032188.3(KAT8):c.188G>C (p.Cys63Ser)	KAT8 (C63S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 976460	NM_032188.3(KAT8):c.269A>G (p.Tyr90Cys)	KAT8 (Y90C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2217472	NM_032188.3(KAT8):c.418C>T (p.Arg140Cys)	KAT8 (R140C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221600	NM_032188.3(KAT8):c.463-4C>G	KAT8	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely benign
Select item 2342354	NM_032188.3(KAT8):c.516G>A (p.Ala172=)	KAT8	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2307005	NM_032188.3(KAT8):c.569A>G (p.Asp190Gly)	KAT8 (D190G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338286	NM_032188.3(KAT8):c.698G>A (p.Arg233Gln)	KAT8 (R233Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2564869	NM_032188.3(KAT8):c.722A>G (p.Tyr241Cys)	KAT8 (Y241C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3112783	NM_032188.3(KAT8):c.724C>T (p.Arg242Cys)	KAT8 (R242C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112784	NM_032188.3(KAT8):c.926C>T (p.Pro309Leu)	KAT8 (P309L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548778	NM_032188.3(KAT8):c.962C>A (p.Pro321His)	KAT8 (P321H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551174	NM_032188.3(KAT8):c.1120C>T (p.Arg374Trp)	KAT8 (R374W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605701	NM_032188.3(KAT8):c.1129C>T (p.Arg377Trp)	KAT8 (R377W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211575	NM_032188.3(KAT8):c.1312+12G>A	KAT8 (A442T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3112781	NM_032188.3(KAT8):c.1312+31G>A	KAT8 (R448Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3287404	NM_032188.3(KAT8):c.1312+35G>C	KAT8 (W449C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3112782	NM_032188.3(KAT8):c.1312+48A>G	KAT8 (I454V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2340050	NM_032188.3(KAT8):c.1312+54A>T	KAT8 (T456S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2623153	NM_032188.3(KAT8):c.1312+58G>A	KAT8 (G457D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2535995	NM_032188.3(KAT8):c.1312+82C>G	KAT8 (A465G)	Single nucleotide variant (missense variant +1 more)	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: 25