Related gene-specific medical variations for Gene (Select 5700) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3426946	NM_002802.3(PSMC1):c.1204G>A (p.Ala402Thr)	NRDE2, PSMC1 (A329T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3426945	NM_002802.3(PSMC1):c.1268A>G (p.Lys423Arg)	NRDE2, PSMC1 (K350R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2297861	NM_002802.3(PSMC1):c.703T>A (p.Leu235Ile)	NRDE2, PSMC1 (L162I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2250640	NM_002802.3(PSMC1):c.1057T>C (p.Phe353Leu)	NRDE2, PSMC1 (F280L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1710322	NM_002802.3(PSMC1):c.983T>C (p.Ile328Thr)	NRDE2, PSMC1 (I255T)	Single nucleotide variant (3 prime UTR variant +1 more)	Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss	GPathogenic
Select item 161600	NM_002802.3(PSMC1):c.279+8G>A	PSMC1	Single nucleotide variant (intron variant)	Malignant tumor of prostate	GUncertain significance

ClinVar