"Ambry Genetics"[submitter] AND "SEPTIN2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2568733	NM_004404.5(SEPTIN2):c.20C>A (p.Thr7Asn)	SEPTIN2 (T62N +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2491692	NM_004404.5(SEPTIN2):c.152C>T (p.Ser51Leu)	SEPTIN2 (S51L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528512	NM_004404.5(SEPTIN2):c.183T>A (p.Asp61Glu)	SEPTIN2 (D96E +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160121	NM_004404.5(SEPTIN2):c.253A>G (p.Thr85Ala)	SEPTIN2 (T120A +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612322	NM_004404.5(SEPTIN2):c.473A>G (p.His158Arg)	SEPTIN2 (H118R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160122	NM_004404.5(SEPTIN2):c.680A>C (p.Gln227Pro)	SEPTIN2 (Q227P +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160120	NM_004404.5(SEPTIN2):c.1048G>A (p.Gly350Arg)	SEPTIN2 (G310R +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar