C3714756[trait identifier] AND "Laboratoire de Génétique Moléculaire I - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1065532	NM_002691.4(POLD1):c.3219C>G (p.Ser1073Arg)	POLD1 (S1073R +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability +1 more	GLikely pathogenic
Select item 633637	NM_004975.4(KCNB1):c.1747C>T (p.Arg583Ter)	KCNB1 (R583*)	Single nucleotide variant (nonsense)	Intellectual disability +1 more	GPathogenic/Likely pathogenic
Select item 633636	NM_004975.4(KCNB1):c.1489G>T (p.Glu497Ter)	KCNB1 (E497*)	Single nucleotide variant (nonsense)	Intellectual disability	GLikely pathogenic
Select item 633634	NM_004975.4(KCNB1):c.1226T>C (p.Ile409Thr)	KCNB1 (I409T)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely pathogenic
Select item 545438	NM_004975.4(KCNB1):c.1183G>A (p.Gly395Arg)	KCNB1 (G395R)	Single nucleotide variant (missense variant)	Intellectual disability +2 more	GConflicting classifications of pathogenicity
Select item 633627	NM_004975.4(KCNB1):c.1115C>A (p.Thr372Asn)	KCNB1 (T372N)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely pathogenic
Select item 633626	NM_004975.4(KCNB1):c.1115C>T (p.Thr372Ile)	KCNB1 (T372I)	Single nucleotide variant (missense variant)	Intellectual disability	GPathogenic
Select item 523478	NM_004975.4(KCNB1):c.935G>A (p.Arg312His)	KCNB1 (R312H)	Single nucleotide variant (missense variant)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 265207	NM_004975.4(KCNB1):c.934C>T (p.Arg312Cys)	KCNB1 (R312C)	Single nucleotide variant (missense variant)	Intellectual disability +3 more	GPathogenic/Likely pathogenic
Select item 449693	NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys)	KCNB1 (R306C)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic