ClinVar for MedGen (Select 1716269) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3220862	NM_024528.4(NKAP):c.1037C>T (p.Ser346Leu)	NKAP (S346L)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type	GUncertain significance
Select item 2689586	NM_024528.4(NKAP):c.143C>G (p.Ser48Cys)	NKAP (S48C)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type	GUncertain significance
Select item 2574140	NM_024528.4(NKAP):c.1073+1672_1074-1701del	NKAP	Deletion (intron variant)	Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type	GUncertain significance
Select item 2442002	NM_024528.4(NKAP):c.550A>G (p.Lys184Glu)	NKAP (K184E)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type	GUncertain significance
Select item 2434367	NM_024528.4(NKAP):c.128G>A (p.Arg43His)	NKAP (R43H)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type	GUncertain significance
Select item 2434366	NM_024528.4(NKAP):c.812A>T (p.Glu271Val)	NKAP (E271V)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type	GUncertain significance
Select item 1685984	NM_024528.4(NKAP):c.961A>G (p.Met321Val)	NKAP (M321V)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type	GPathogenic
Select item 1325906	NM_024528.4(NKAP):c.538+8T>A	NKAP	Single nucleotide variant (intron variant)	Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type	GBenign
Select item 1325905	NM_024528.4(NKAP):c.539-17A>T	NKAP	Single nucleotide variant (intron variant)	NKAP-related disorder +1 more	GBenign
Select item 1325904	NM_024528.4(NKAP):c.600ATC[1] (p.Ser202del)	NKAP (S202del)	Microsatellite (inframe_deletion)	Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type	GBenign
Select item 1325903	NM_024528.4(NKAP):c.923+6C>T	NKAP	Single nucleotide variant (intron variant)	Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type	GBenign
Select item 1174111	NM_024528.4(NKAP):c.768G>T (p.Lys256Asn)	NKAP (K256N)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type +1 more	GUncertain significance
Select item 827657	NM_024528.4(NKAP):c.1082G>A (p.Arg361Gln)	NKAP (R361Q)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type	GPathogenic
Select item 827656	NM_024528.4(NKAP):c.1010T>C (p.Ile337Thr)	NKAP (I337T)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type	GPathogenic
Select item 827655	NM_024528.4(NKAP):c.989G>A (p.Arg330His)	NKAP (R330H)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type	GLikely pathogenic
Select item 827654	NM_024528.4(NKAP):c.988C>T (p.Arg330Cys)	NKAP (R330C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 827653	NM_024528.4(NKAP):c.998G>A (p.Arg333Gln)	NKAP (R333Q)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type	GLikely pathogenic