ClinVar for MedGen (Select 343465) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065688	NM_018131.5(CEP55):c.547C>T (p.Gln183Ter)	CEP55 (Q183*)	Single nucleotide variant (nonsense)	Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome	GLikely pathogenic
Select item 2688765	NM_018131.5(CEP55):c.22G>T (p.Asp8Tyr)	CEP55 (D8Y)	Single nucleotide variant (missense variant)	Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome	GUncertain significance
Select item 2049472	NM_018131.5(CEP55):c.379G>A (p.Val127Ile)	CEP55 (V127I)	Single nucleotide variant (missense variant)	Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome +2 more	GUncertain significance
Select item 1209685	NM_018131.5(CEP55):c.1191+89A>G	CEP55	Single nucleotide variant (intron variant)	Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome +1 more	GBenign
Select item 1209684	NM_018131.5(CEP55):c.1133A>T (p.His378Leu)	CEP55 (H378L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1065438	NM_014009.4(FOXP3):c.648-2A>G	FOXP3	Single nucleotide variant (splice acceptor variant)	Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome	GLikely pathogenic
Select item 1065436	NM_018131.5(CEP55):c.1373A>G (p.His458Arg)	CEP55 (H458R)	Single nucleotide variant (missense variant)	Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome	GUncertain significance
Select item 1065435	NM_018131.5(CEP55):c.190C>T (p.Arg64Ter)	CEP55 (R64*)	Single nucleotide variant (nonsense)	Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome	GPathogenic/Likely pathogenic
Select item 1027682	NM_018131.5(CEP55):c.1277C>G (p.Pro426Arg)	CEP55 (P426R)	Single nucleotide variant (missense variant)	Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome +2 more	GUncertain significance
Select item 982559	NM_018131.5(CEP55):c.993+3A>C	CEP55	Single nucleotide variant (intron variant)	Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome	GPathogenic
Select item 917933	NM_018131.5(CEP55):c.807T>G (p.Tyr269Ter)	CEP55 (Y269*)	Single nucleotide variant (nonsense)	CEP55-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 599446	NM_018131.5(CEP55):c.70G>A (p.Glu24Lys)	CEP55 (E24K)	Single nucleotide variant (missense variant)	Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome	GUncertain significance
Select item 562113	NM_018131.5(CEP55):c.514dup (p.Ile172fs)	CEP55 (I172fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 437875	NM_018131.5(CEP55):c.256C>T (p.Arg86Ter)	CEP55 (R86*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 437874	NM_018131.5(CEP55):c.1274C>A (p.Ser425Ter)	CEP55 (S425*)	Single nucleotide variant (nonsense)	Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome	GPathogenic