C3714756[trait identifier] AND "Laboratory of Medical Genetics, Univer - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 225081	NM_006015.6(ARID1A):c.6232G>A (p.Glu2078Lys)	ARID1A (E2078K +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 633617	NM_014023.4(WDR37):c.356C>T (p.Ser119Phe)	WDR37 (S119F)	Single nucleotide variant (missense variant)	Neurooculocardiogenitourinary syndrome +6 more	GPathogenic/Likely pathogenic
Select item 39581	NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)	PACS1 (R203W)	Single nucleotide variant (missense variant)	Horseshoe kidney +13 more	GPathogenic/Likely pathogenic
Select item 158359	NM_004380.3(CREBBP):c.3779+1G>A	CREBBP	Single nucleotide variant (splice donor variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +3 more	GPathogenic
Select item 279678	NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs)	ANKRD11 (K635fs)	Microsatellite (frameshift variant)	Neurodevelopmental delay +11 more	GPathogenic/Likely pathogenic
Select item 976147	NM_001367721.1(CASK):c.616G>A (p.Gly206Ser)	CASK (G206S)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 10980	NM_001032382.2(PQBP1):c.459_462del (p.Arg153fs)	PQBP1 (R145fs +1 more)	Microsatellite (frameshift variant +1 more)	Intellectual disability +4 more	GPathogenic/Likely pathogenic
Select item 1710147	NM_001303512.2(PDZD4):c.10_16del (p.Asn4fs)	PDZD4 (N4fs)	Deletion (frameshift variant +1 more)	Movement disorder +4 more	GUncertain significance