Related gene-specific medical variations for Gene (Select 9037) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1808420	GRCh37/hg19 5p15.31(chr5:8718856-9195571)x3	SEMA5A	Copy number gain	not provided	GUncertain significance
Select item 1696506	NM_003966.3(SEMA5A):c.-78+14596C>T	SEMA5A	Single nucleotide variant (intron variant)	SEMA5A-associated Neurodevelopmental syndrome	GUncertain significance
Select item 813841	GRCh37/hg19 5p15.31(chr5:7952706-9108420)x1	SEMA5A	Copy number loss	Anophthalmia +1 more	GUncertain significance
Select item 441956	GRCh37/hg19 5p15.31(chr5:8650478-9218837)x3	SEMA5A	Copy number gain	See cases	GUncertain significance
Select item 395058	GRCh37/hg19 5p15.31(chr5:9143754-9432570)x3	SEMA5A	Copy number gain	See cases	GUncertain significance
Select item 91956	NM_003966.3(SEMA5A):c.2928G>C (p.Leu976=)	SEMA5A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance

ClinVar