OCM[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3203947	NM_001097622.2(OCM):c.16G>A (p.Val6Met)	OCM (V6M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203950	NM_001097622.2(OCM):c.59G>A (p.Arg20Gln)	OCM (R20Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3302135	NM_001097622.2(OCM):c.63C>G (p.Asp21Glu)	OCM (D21E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302136	NM_001097622.2(OCM):c.121G>C (p.Ala41Pro)	OCM (A3P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325107	NM_001097622.2(OCM):c.145C>T (p.Arg49Trp)	OCM (R11W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390863	NM_001097622.2(OCM):c.152T>C (p.Ile51Thr)	OCM (I51T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203945	NM_001097622.2(OCM):c.164A>G (p.Gln55Arg)	OCM (Q17R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203946	NM_001097622.2(OCM):c.168C>A (p.Ser56Arg)	OCM (S18R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391512	NM_001097622.2(OCM):c.221G>C (p.Gly74Ala)	OCM (G74A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203948	NM_001097622.2(OCM):c.266C>T (p.Ala89Val)	OCM (A51V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203949	NM_001097622.2(OCM):c.294T>G (p.Ile98Met)	OCM (I60M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291958	NM_001097622.2(OCM):c.323A>T (p.His108Leu)	OCM (H108L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 395245	GRCh37/hg19 7p22.1(chr7:5864792-5925847)x3	OCM	Copy number gain	See cases	GBenign