"CELF4-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3048187	NM_020180.4(CELF4):c.1242G>C (p.Gln414His)	CELF4 (Q280H +13 more)	Single nucleotide variant (non-coding transcript variant +1 more)	CELF4-related condition	GUncertain significance
Select item 728639	NM_020180.4(CELF4):c.1218G>A (p.Pro406=)	CELF4	Single nucleotide variant (synonymous variant +1 more)	CELF4-related condition +1 more	GBenign/Likely benign
Select item 3053005	NM_020180.4(CELF4):c.1074C>T (p.Phe358=)	CELF4	Single nucleotide variant (synonymous variant +1 more)	CELF4-related condition	GLikely benign
Select item 3039626	NM_020180.4(CELF4):c.1012G>A (p.Val338Met)	CELF4 (V204M +8 more)	Single nucleotide variant (missense variant +1 more)	CELF4-related condition	GLikely benign
Select item 3060581	NM_020180.4(CELF4):c.984C>T (p.Ala328=)	CELF4	Single nucleotide variant (synonymous variant +1 more)	CELF4-related condition	GBenign
Select item 3038143	NM_020180.4(CELF4):c.930A>G (p.Ala310=)	CELF4	Single nucleotide variant (synonymous variant +1 more)	CELF4-related condition	GLikely benign
Select item 3049299	NM_020180.4(CELF4):c.837C>T (p.Val279=)	CELF4	Single nucleotide variant (synonymous variant +1 more)	CELF4-related condition	GLikely benign
Select item 3037495	NM_020180.4(CELF4):c.801+7G>A	CELF4	Single nucleotide variant (intron variant)	CELF4-related condition	GBenign
Select item 3048420	NM_020180.4(CELF4):c.327G>A (p.Leu109=)	CELF4	Single nucleotide variant (synonymous variant +2 more)	CELF4-related condition	GLikely benign
Select item 3041530	NM_020180.4(CELF4):c.207C>T (p.Asp69=)	CELF4	Single nucleotide variant (synonymous variant +1 more)	CELF4-related condition	GLikely benign