"PreventionGenetics, part of Exact Sciences"[submitter] AND "FOXJ1"[ge - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3053190	NM_001454.4(FOXJ1):c.1263G>T (p.Leu421Phe)	FOXJ1 (L421F)	Single nucleotide variant (missense variant)	FOXJ1-related disorder	GLikely benign
Select item 2631610	NM_001454.4(FOXJ1):c.1116C>G (p.Phe372Leu)	FOXJ1 (F372L)	Single nucleotide variant (missense variant)	FOXJ1-related disorder	GUncertain significance
Select item 3032647	NM_001454.4(FOXJ1):c.1086G>A (p.Ser362=)	FOXJ1	Single nucleotide variant (synonymous variant)	FOXJ1-related disorder	GLikely benign
Select item 2631063	NM_001454.4(FOXJ1):c.832del (p.Leu278fs)	FOXJ1 (L278fs)	Deletion (frameshift variant)	FOXJ1-related disorder	GLikely pathogenic
Select item 3032523	NM_001454.4(FOXJ1):c.782C>T (p.Ala261Val)	FOXJ1 (A261V)	Single nucleotide variant (missense variant)	FOXJ1-related disorder	GLikely benign
Select item 3045834	NM_001454.4(FOXJ1):c.732T>C (p.Asn244=)	FOXJ1	Single nucleotide variant (synonymous variant)	FOXJ1-related disorder	GLikely benign
Select item 3048320	NM_001454.4(FOXJ1):c.725C>T (p.Thr242Met)	FOXJ1 (T242M)	Single nucleotide variant (missense variant)	FOXJ1-related disorder	GLikely benign
Select item 3055097	NM_001454.4(FOXJ1):c.331G>A (p.Asp111Asn)	FOXJ1 (D111N)	Single nucleotide variant (missense variant)	FOXJ1-related disorder	GLikely benign
Select item 3038132	NM_001454.4(FOXJ1):c.279G>A (p.Ser93=)	FOXJ1, LOC130061707	Single nucleotide variant (synonymous variant)	FOXJ1-related disorder	GLikely benign
Select item 3049566	NM_001454.4(FOXJ1):c.222C>A (p.Pro74=)	FOXJ1, LOC130061707	Single nucleotide variant (synonymous variant)	FOXJ1-related disorder	GLikely benign