ClinVar for MedGen (Select 1763263) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367119	NM_032188.3(KAT8):c.670C>T (p.Arg224Cys)	KAT8 (R224C)	Single nucleotide variant (missense variant)	Li-Ghorbani-Weisz-Hubshman syndrome	GUncertain significance
Select item 3341460	NM_032188.3(KAT8):c.895G>T (p.Val299Phe)	KAT8 (V299F)	Single nucleotide variant (missense variant)	Li-Ghorbani-Weisz-Hubshman syndrome	GUncertain significance
Select item 3242197	NM_032188.3(KAT8):c.697C>T (p.Arg233Trp)	KAT8 (R233W)	Single nucleotide variant (missense variant)	Li-Ghorbani-Weisz-Hubshman syndrome	GUncertain significance
Select item 3236405	NM_032188.3(KAT8):c.1284T>G (p.Ser428Arg)	KAT8 (S428R)	Single nucleotide variant (missense variant)	Li-Ghorbani-Weisz-Hubshman syndrome	GUncertain significance
Select item 2683826	NM_032188.3(KAT8):c.649A>C (p.Met217Leu)	KAT8 (M217L)	Single nucleotide variant (missense variant)	Li-Ghorbani-Weisz-Hubshman syndrome	GLikely pathogenic
Select item 2665074	GRCh38/hg38 16p11.2(chr16:31113127-31122901)	BCKDK, KAT8 +1 more	Copy number loss	Li-Ghorbani-Weisz-Hubshman syndrome	GUncertain significance
Select item 1699138	NM_032188.3(KAT8):c.725G>C (p.Arg242Pro)	KAT8 (R242P)	Single nucleotide variant (missense variant)	Li-Ghorbani-Weisz-Hubshman syndrome	GUncertain significance
Select item 1684624	NM_032188.3(KAT8):c.275A>G (p.His92Arg)	KAT8 (H92R)	Single nucleotide variant (missense variant)	Li-Ghorbani-Weisz-Hubshman syndrome	GPathogenic
Select item 1679609	NM_032188.3(KAT8):c.55G>C (p.Gly19Arg)	KAT8 (G19R)	Single nucleotide variant (missense variant)	Li-Ghorbani-Weisz-Hubshman syndrome	GUncertain significance
Select item 1329928	NM_032188.3(KAT8):c.524A>C (p.Lys175Thr)	KAT8 (K175T)	Single nucleotide variant (missense variant)	Li-Ghorbani-Weisz-Hubshman syndrome	GLikely pathogenic
Select item 976463	NM_032188.3(KAT8):c.543G>C (p.Lys181Asn)	KAT8 (K181N)	Single nucleotide variant (missense variant)	Li-Ghorbani-Weisz-Hubshman syndrome	GPathogenic
Select item 976462	NM_032188.3(KAT8):c.523A>G (p.Lys175Glu)	KAT8 (K175E)	Single nucleotide variant (missense variant)	Li-Ghorbani-Weisz-Hubshman syndrome	GPathogenic
Select item 976461	NM_032188.3(KAT8):c.293G>A (p.Arg98Gln)	KAT8 (R98Q)	Single nucleotide variant (missense variant)	Li-Ghorbani-Weisz-Hubshman syndrome	GPathogenic
Select item 976460	NM_032188.3(KAT8):c.269A>G (p.Tyr90Cys)	KAT8 (Y90C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic