"Eurofins Ntd Llc (ga)"[submitter] AND "GPSM2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 500059	NM_013296.5(GPSM2):c.485del (p.Pro162fs)	GPSM2 (P162fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 285400	NM_013296.5(GPSM2):c.596C>T (p.Ala199Val)	GPSM2 (A199V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 35492	NM_013296.5(GPSM2):c.742del (p.Gly249fs)	GPSM2 (G249fs)	Deletion (frameshift variant)	Chudley-McCullough syndrome +3 more	GPathogenic/Likely pathogenic
Select item 595063	NM_013296.5(GPSM2):c.1382C>T (p.Thr461Ile)	GPSM2 (T461I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 499162	NM_013296.5(GPSM2):c.1486T>A (p.Leu496Ile)	GPSM2 (L496I)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 45566	NM_013296.5(GPSM2):c.2043G>A (p.Ser681=)	GPSM2, CLCC1	Single nucleotide variant (3 prime UTR variant +2 more)	Chudley-McCullough syndrome +2 more	GConflicting classifications of pathogenicity

ClinVar