Related gene-specific medical variations for Gene (Select 1948) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3352657	NM_004093.4(EFNB2):c.780G>A (p.Ser260=)	EFNB2, LOC126861841	Single nucleotide variant (synonymous variant)	EFNB2-related disorder	GBenign
Select item 3058611	NM_004093.4(EFNB2):c.783G>A (p.Pro261=)	EFNB2, LOC126861841	Single nucleotide variant (synonymous variant)	EFNB2-related disorder	GLikely benign
Select item 3057815	NM_004093.4(EFNB2):c.663C>T (p.Leu221=)	EFNB2, LOC126861841	Single nucleotide variant (synonymous variant)	EFNB2-related disorder	GLikely benign
Select item 3050238	NM_004093.4(EFNB2):c.614-8G>A	EFNB2, LOC126861841	Single nucleotide variant (intron variant)	EFNB2-related disorder	GLikely benign
Select item 2525351	NM_004093.4(EFNB2):c.647C>T (p.Ser216Leu)	EFNB2, LOC126861841 (S216L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412431	NM_004093.4(EFNB2):c.643C>T (p.His215Tyr)	EFNB2, LOC126861841 (H184Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303402	NM_004093.4(EFNB2):c.619A>G (p.Ser207Gly)	EFNB2, LOC126861841 (S169G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253971	NM_004093.4(EFNB2):c.886G>T (p.Ala296Ser)	EFNB2, LOC126861841 (A258S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 742043	NM_004093.4(EFNB2):c.798G>A (p.Thr266=)	EFNB2, LOC126861841	Single nucleotide variant (synonymous variant)	not provided	GLikely benign