Related gene-specific medical variations for Gene (Select 80311) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382908	NM_030624.3(KLHL15):c.1000G>A (p.Gly334Arg)	KLHL15 (G334R)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 103	GUncertain significance
Select item 3362658	NM_030624.3(KLHL15):c.1543T>C (p.Tyr515His)	KLHL15 (Y515H)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 103	GUncertain significance
Select item 3360781	NM_030624.3(KLHL15):c.910C>A (p.Pro304Thr)	KLHL15 (P304T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359999	NM_030624.3(KLHL15):c.1005A>C (p.Glu335Asp)	KLHL15 (E335D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662832	NM_030624.3(KLHL15):c.577C>T (p.Pro193Ser)	KLHL15, LOC114022706 (P193S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2630796	NM_030624.3(KLHL15):c.663T>G (p.Asn221Lys)	KLHL15, LOC114022706 (N221K)	Single nucleotide variant (missense variant)	KLHL15-related disorder	GUncertain significance
Select item 2441635	NM_030624.3(KLHL15):c.1406A>G (p.Glu469Gly)	KLHL15 (E469G)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 103	GUncertain significance
Select item 1992386	NM_030624.3(KLHL15):c.523C>G (p.Leu175Val)	KLHL15, LOC114022706 (L175V)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 103	GUncertain significance
Select item 1706557	NM_030624.3(KLHL15):c.584T>C (p.Ile195Thr)	KLHL15, LOC114022706 (I195T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1334900	NM_030624.3(KLHL15):c.26G>A (p.Cys9Tyr)	KLHL15 (C9Y)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 103	GUncertain significance
Select item 788343	NM_030624.3(KLHL15):c.693C>T (p.Ser231=)	KLHL15, LOC114022706	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 450757	NM_030624.3(KLHL15):c.532G>C (p.Glu178Gln)	KLHL15, LOC114022706 (E178Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance