ClinVar for OMIM (Select 620012) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from OMIM

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341451	NM_001349798.2(FBXW7):c.850C>T (p.Leu284Phe)	FBXW7, FBXW7-AS1 (L166F +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Developmental delay, hypotonia, and impaired language	GUncertain significance
Select item 3255132	NM_001349798.2(FBXW7):c.1919del (p.Ser640fs)	FBXW7 (S522fs +2 more)	Deletion (frameshift variant)	Developmental delay, hypotonia, and impaired language	GLikely pathogenic
Select item 3238841	NM_001349798.2(FBXW7):c.248G>T (p.Arg83Ile)	FBXW7 (R83I)	Single nucleotide variant (missense variant)	Developmental delay, hypotonia, and impaired language	GUncertain significance
Select item 3235824	NM_001349798.2(FBXW7):c.915_918dup (p.Thr307fs)	FBXW7 (T189fs +2 more)	Duplication (frameshift variant)	Developmental delay, hypotonia, and impaired language	GLikely pathogenic
Select item 3068110	NM_001349798.2(FBXW7):c.471_472insCTCC (p.Ser158fs)	FBXW7 (S158fs)	Insertion (frameshift variant)	Developmental delay, hypotonia, and impaired language	GLikely pathogenic
Select item 2626983	NM_001349798.2(FBXW7):c.1315A>G (p.Thr439Ala)	FBXW7 (T321A +2 more)	Single nucleotide variant (missense variant)	Developmental delay, hypotonia, and impaired language	GLikely pathogenic
Select item 2582613	NM_001349798.2(FBXW7):c.2065C>T (p.Arg689Trp)	FBXW7 (R571W +2 more)	Single nucleotide variant (missense variant)	Developmental delay, hypotonia, and impaired language	GPathogenic
Select item 1703001	NM_001349798.2(FBXW7):c.2020C>T (p.Arg674Trp)	FBXW7 (R674W +2 more)	Single nucleotide variant (missense variant)	Developmental delay, hypotonia, and impaired language +1 more	GPathogenic
Select item 1703000	NM_001349798.2(FBXW7):c.1439A>G (p.Asp480Gly)	FBXW7 (D480G +2 more)	Single nucleotide variant (missense variant)	Pervasive developmental disorder	GLikely pathogenic
Select item 1702999	NM_001349798.2(FBXW7):c.2066G>A (p.Arg689Gln)	FBXW7 (R689Q +2 more)	Single nucleotide variant (missense variant)	Developmental delay, hypotonia, and impaired language	GPathogenic
Select item 1702998	NM_001349798.2(FBXW7):c.1267G>A (p.Gly423Arg)	FBXW7 (G423R +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1702997	NM_001349798.2(FBXW7):c.1713_1714del (p.Asn572fs)	FBXW7 (N454fs +2 more)	Deletion (frameshift variant)	Developmental delay, hypotonia, and impaired language	GPathogenic