"FOXL2-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1685141	NM_023067.4(FOXL2):c.*619C>A	FOXL2	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GBenign
Select item 3045061	NM_023067.4(FOXL2):c.*614C>T	FOXL2	Single nucleotide variant (3 prime UTR variant)	FOXL2-related disorder	GLikely benign
Select item 2631816	NM_023067.4(FOXL2):c.1115C>T (p.Ser372Leu)	FOXL2 (S372L)	Single nucleotide variant (missense variant)	FOXL2-related disorder	GUncertain significance
Select item 2890002	NM_023067.4(FOXL2):c.1101C>A (p.Thr367=)	FOXL2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 435242	NM_023067.4(FOXL2):c.1071T>C (p.His357=)	FOXL2	Single nucleotide variant (synonymous variant)	FOXL2-related disorder +2 more	GBenign/Likely benign
Select item 162045	NM_023067.4(FOXL2):c.843_859dup (p.Pro287fs)	FOXL2 (P287fs)	Duplication (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1955748	NM_023067.4(FOXL2):c.762G>A (p.Ser254=)	FOXL2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 369919	NM_023067.4(FOXL2):c.644A>G (p.Tyr215Cys)	FOXL2 (Y215C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3030796	NM_023067.4(FOXL2):c.636C>T (p.Pro212=)	FOXL2	Single nucleotide variant (synonymous variant)	FOXL2-related disorder	GLikely benign
Select item 1600652	NM_023067.4(FOXL2):c.614C>G (p.Pro205Arg)	FOXL2 (P205R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3038785	NM_023067.4(FOXL2):c.552C>T (p.Asp184=)	FOXL2	Single nucleotide variant (synonymous variant)	FOXL2-related disorder	GLikely benign
Select item 4863	NM_023067.4(FOXL2):c.251T>G (p.Ile84Ser)	FOXL2 (I84S)	Single nucleotide variant (missense variant)	FOXL2-related disorder	GPathogenic
Select item 3040308	NM_023067.4(FOXL2):c.234C>T (p.Ser78=)	FOXL2	Single nucleotide variant (synonymous variant)	FOXL2-related disorder	GLikely benign
Select item 3053227	NM_023067.4(FOXL2):c.33G>T (p.Ala11=)	FOXL2	Single nucleotide variant (synonymous variant)	FOXL2-related disorder	GLikely benign
Select item 3035039	NM_023067.4(FOXL2):c.-7C>T	FOXL2	Single nucleotide variant (5 prime UTR variant)	FOXL2-related disorder	GLikely benign