Related gene-specific medical variations for Gene (Select 1947) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3237507	NM_004429.5(EFNB1):c.430G>A (p.Gly144Arg)	EFNB1 (G144R)	Single nucleotide variant (missense variant)	Craniofrontonasal syndrome	GLikely pathogenic
Select item 2663854	NM_004429.5(EFNB1):c.67del (p.Arg23fs)	EFNB1 (R23fs)	Deletion (frameshift variant)	Craniofrontonasal syndrome	GLikely pathogenic
Select item 1803718	NM_004429.5(EFNB1):c.149T>A (p.Leu50Ter)	EFNB1 (L50*)	Single nucleotide variant (nonsense)	Craniofrontonasal syndrome	GPathogenic
Select item 1322817	NM_004429.5(EFNB1):c.111G>A (p.Trp37Ter)	EFNB1 (W37*)	Single nucleotide variant (nonsense)	Craniofrontonasal syndrome	GPathogenic
Select item 564854	GRCh37/hg19 Xq13.1(chrX:68001279-68138241)x1	EFNB1	Copy number loss	not provided	GPathogenic
Select item 235545	NM_004429.5(EFNB1):c.101_114dup (p.Ser39fs)	EFNB1 (S39fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 11706	NG_008887.1:g.(6109_14537)_(16741_?)del	EFNB1	Deletion	Craniofrontonasal syndrome	GPathogenic

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