ClinVar for MedGen (Select 1648339) - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382595	NM_002576.5(PAK1):c.850G>A (p.Val284Met)	PAK1 (V186M +4 more)	Single nucleotide variant (missense variant +3 more)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	GLikely pathogenic
Select item 3068267	NM_002576.5(PAK1):c.613G>A (p.Val205Met)	PAK1 (V107M +3 more)	Single nucleotide variant (missense variant +2 more)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	GUncertain significance
Select item 2585488	NM_032536.4(NTNG2):c.949G>A (p.Gly317Ser)	NTNG2 (G317S)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	GUncertain significance
Select item 2506576	NM_002576.5(PAK1):c.251C>G (p.Thr84Arg)	PAK1 (T84R)	Single nucleotide variant (missense variant +3 more)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	GLikely pathogenic
Select item 2506575	NM_002576.5(PAK1):c.1111C>T (p.Arg371Cys)	PAK1 (R273C +6 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	GLikely pathogenic
Select item 2506574	NM_002576.5(PAK1):c.1426A>G (p.Ile476Val)	PAK1 (I378V +6 more)	Single nucleotide variant (missense variant +2 more)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	GLikely pathogenic
Select item 2506573	NM_002576.5(PAK1):c.935T>G (p.Ile312Ser)	PAK1 (I214S +5 more)	Single nucleotide variant (missense variant +2 more)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	GLikely pathogenic
Select item 2442056	NM_002576.5(PAK1):c.1409T>A (p.Leu470Gln)	PAK1 (L372Q +7 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	GLikely pathogenic
Select item 2434571	NM_002576.5(PAK1):c.79G>A (p.Gly27Ser)	PAK1 (G27S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2434570	NM_002576.5(PAK1):c.969G>T (p.Lys323Asn)	PAK1 (K225N +5 more)	Single nucleotide variant (missense variant +2 more)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	GUncertain significance
Select item 2434569	NM_002576.5(PAK1):c.1552-2010A>T	PAK1 (K422* +2 more)	Single nucleotide variant (nonsense +1 more)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	GUncertain significance
Select item 2434568	NM_002576.5(PAK1):c.478-3C>A	PAK1	Single nucleotide variant (intron variant)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	GUncertain significance
Select item 1710273	NM_002576.5(PAK1):c.313C>T (p.Arg105Cys)	PAK1 (R105C +2 more)	Single nucleotide variant (missense variant +2 more)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	GLikely pathogenic
Select item 1700706	NM_002576.5(PAK1):c.1420T>C (p.Tyr474His)	PAK1 (Y376H +6 more)	Single nucleotide variant (missense variant +2 more)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	GLikely pathogenic
Select item 1685392	NM_002576.5(PAK1):c.424T>C (p.Tyr142His)	PAK1 (Y142H +2 more)	Single nucleotide variant (missense variant +2 more)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	GLikely pathogenic
Select item 1333785	NM_002576.5(PAK1):c.658T>C (p.Ser220Pro)	PAK1 (S122P +3 more)	Single nucleotide variant (missense variant +2 more)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	GUncertain significance
Select item 1333784	NM_002576.5(PAK1):c.1579C>T (p.Leu527Phe)	PAK1 (L429F +11 more)	Single nucleotide variant (missense variant +2 more)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	GUncertain significance
Select item 1326985	NM_002576.5(PAK1):c.999-12G>A	PAK1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1325816	NM_002576.5(PAK1):c.328T>A (p.Ser110Thr)	PAK1 (S110T +2 more)	Single nucleotide variant (missense variant +2 more)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	GLikely pathogenic
Select item 1325809	NM_002576.5(PAK1):c.361C>T (p.Pro121Ser)	PAK1 (P121S +2 more)	Single nucleotide variant (missense variant +2 more)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay +1 more	GPathogenic/Likely pathogenic
Select item 1325801	NM_002576.5(PAK1):c.397T>C (p.Ser133Pro)	PAK1 (S133P +2 more)	Single nucleotide variant (missense variant +2 more)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	GLikely pathogenic
Select item 1282238	NM_002576.5(PAK1):c.1116+8C>G	PAK1	Single nucleotide variant (intron variant)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay +1 more	GBenign
Select item 1200189	NM_002576.5(PAK1):c.379G>A (p.Val127Met)	PAK1 (V127M +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 1184425	NM_002576.5(PAK1):c.387del (p.Glu129fs)	PAK1 (E129fs +2 more)	Deletion (frameshift variant +2 more)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	GUncertain significance
Select item 1174490	NM_002576.5(PAK1):c.391T>A (p.Tyr131Asn)	PAK1 (Y131N +2 more)	Single nucleotide variant (missense variant +2 more)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	GPathogenic
Select item 987294	NM_002576.5(PAK1):c.428T>C (p.Met143Thr)	PAK1 (M143T +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely pathogenic
Select item 982892	NM_002576.5(PAK1):c.1409T>G (p.Leu470Arg)	PAK1 (L372R +7 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	GLikely pathogenic
Select item 978099	NM_002576.5(PAK1):c.814C>T (p.Arg272Trp)	PAK1 (R174W +4 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability +1 more	GUncertain significance
Select item 976263	NM_002576.5(PAK1):c.1483C>G (p.Arg495Gly)	PAK1 (R397G +6 more)	Single nucleotide variant (missense variant +2 more)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	GUncertain significance
Select item 807646	NM_002576.5(PAK1):c.1427T>C (p.Ile476Thr)	PAK1 (I393T +6 more)	Single nucleotide variant (missense variant +2 more)	See cases +2 more	GPathogenic/Likely pathogenic
Select item 587371	NM_002576.5(PAK1):c.1286A>G (p.Tyr429Cys)	PAK1 (Y429C +7 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	GLikely pathogenic
Select item 587370	NM_002576.5(PAK1):c.392A>G (p.Tyr131Cys)	PAK1 (Y131C +2 more)	Single nucleotide variant (missense variant +2 more)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	GLikely pathogenic

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Items: 32