C4025790[trait identifier] AND "NIHR Bioresource Rare Diseases, Univer - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 207501	NM_001199107.2(TBC1D24):c.605C>T (p.Ser202Leu)	TBC1D24 (S202L)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 812998	NM_001199107.2(TBC1D24):c.901C>T (p.Gln301Ter)	TBC1D24 (Q301*)	Single nucleotide variant (nonsense)	Global developmental delay +4 more	GLikely pathogenic
Select item 813003	NM_014727.3(KMT2B):c.3143_3149del (p.Gly1048fs)	KMT2B (G1048fs)	Deletion (frameshift variant)	Specific learning disability +4 more	GPathogenic

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