Related gene-specific medical variations for Gene (Select 4897) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2689605	NM_001037132.4(NRCAM):c.2581T>G (p.Leu861Val)	NRCAM (L542V +10 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with neuromuscular and skeletal abnormalities	GUncertain significance
Select item 2689604	NM_001037132.4(NRCAM):c.362A>T (p.Tyr121Phe)	NRCAM (Y115F +2 more)	Single nucleotide variant (missense variant +2 more)	Neurodevelopmental disorder with neuromuscular and skeletal abnormalities	GUncertain significance
Select item 2689603	NM_001037132.4(NRCAM):c.2536A>G (p.Met846Val)	NRCAM (M527V +10 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with neuromuscular and skeletal abnormalities	GUncertain significance
Select item 2689602	NM_001037132.4(NRCAM):c.638G>A (p.Arg213His)	NRCAM (R117H +2 more)	Single nucleotide variant (missense variant +2 more)	Neurodevelopmental disorder with neuromuscular and skeletal abnormalities	GUncertain significance
Select item 979641	GRCh37/hg19 7q31.1(chr7:108025055-108085810)x1	NRCAM	Copy number loss	not provided	GUncertain significance
Select item 157065	NM_001037132.4(NRCAM):c.-331-26289_-331-18537del	NRCAM	Deletion (intron variant)	Normal pregnancy	Gnot provided
Select item 100829	NM_001037132.4(NRCAM):c.3764T>G (p.Leu1255Arg)	NRCAM (L1162R +32 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance

ClinVar