"GeneDx"[submitter] AND "FOXP4"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	LOC129996415, LOC129996416 +435 more	Copy number loss	See cases	GPathogenic
Select item 1329592	NM_001012426.2(FOXP4):c.10G>T (p.Glu4Ter)	FOXP4 (E4*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1263098	NM_001012426.2(FOXP4):c.75G>A (p.Gly25=)	FOXP4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1224246	NM_001012426.2(FOXP4):c.81C>A (p.Ala27=)	FOXP4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2662359	NM_001012426.2(FOXP4):c.815T>A (p.Leu272His)	FOXP4 (L240H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579797	NM_001012426.2(FOXP4):c.1027C>T (p.Arg343Trp)	FOXP4 (R311W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580805	NM_001012426.2(FOXP4):c.1122dup (p.Ser375fs)	FOXP4 (S343fs +3 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3369684	NM_001012426.2(FOXP4):c.1357+5G>T	FOXP4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3372260	NM_001012426.2(FOXP4):c.1382A>G (p.Tyr461Cys)	FOXP4 (Y417C +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1723851	NM_001012426.2(FOXP4):c.1729G>T (p.Ala577Ser)	FOXP4 (A533S +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2444581	NM_001012426.2(FOXP4):c.1913A>C (p.Lys638Thr)	FOXP4 (K594T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance