C1535926[trait identifier] AND "Hadassah Hebrew University Medical Cen - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 804415	NM_080546.5(SLC44A1):c.1009C>T (p.Gln337Ter)	SLC44A1 (Q337*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2500814	NM_007187.5(WBP4):c.440-1G>A	WBP4	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2500810	NM_007187.5(WBP4):c.499del (p.Thr167fs)	WBP4 (T167fs)	Deletion (frameshift variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2500811	NC_000013.11:g.41074134_41090164del	WBP4	Deletion	Neurodevelopmental disorder	GLikely pathogenic
Select item 2500812	NM_007187.5(WBP4):c.668C>G (p.Ser223Ter)	WBP4 (S223*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2500813	NM_007187.5(WBP4):c.944del (p.Pro315fs)	WBP4 (P315fs)	Deletion (frameshift variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1691077	NM_001009880.2(KIAA0930):c.973G>A (p.Ala325Thr)	KIAA0930 (A325T +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1691076	NM_001009880.2(KIAA0930):c.971C>T (p.Ser324Leu)	KIAA0930 (S324L +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder +1 more	GConflicting classifications of pathogenicity
Select item 1691075	NM_001009880.2(KIAA0930):c.965C>T (p.Ser322Leu)	KIAA0930 (S322L +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1321965	NM_001145073.3(USP27X):c.106C>T (p.Gln36Ter)	USP27X (Q36*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder +1 more	GPathogenic/Likely pathogenic