Related gene-specific medical variations for Gene (Select 4953) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360284	NM_002539.3(ODC1):c.192dup (p.Phe65fs)	ODC1 (F65fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1696534	NM_002539.3(ODC1):c.1187C>T (p.Thr396Met)	ODC1 (T267M +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with alopecia and brain abnormalities	GUncertain significance
Select item 1679701	NM_002539.3(ODC1):c.103G>A (p.Asp35Asn)	ODC1 (D35N)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with alopecia and brain abnormalities	GUncertain significance
Select item 1342500	NM_002539.3(ODC1):c.1270G>A (p.Asp424Asn)	ODC1 (D295N +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with alopecia and brain abnormalities	GUncertain significance
Select item 1319186	NM_002539.3(ODC1):c.1211C>T (p.Thr404Met)	ODC1 (T275M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 13806	NM_002539.3(ODC1):c.-128+109G>A	LOC129933100, ODC1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign

ClinVar