"Diagnostic Laboratory, Department of Genetics, University Medical Cen - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 194972	NM_015311.3(OBSL1):c.5309-4C>G	OBSL1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 288014	NM_015311.3(OBSL1):c.5300G>A (p.Arg1767Gln)	OBSL1 (R1767Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 334466	NM_015311.3(OBSL1):c.4836A>G (p.Thr1612=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 334469	NM_015311.3(OBSL1):c.4733A>G (p.Gln1578Arg)	OBSL1 (Q1578R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 334470	NM_015311.3(OBSL1):c.4566C>T (p.Cys1522=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 334475	NM_015311.3(OBSL1):c.4395T>C (p.Asp1465=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 334483	NM_015311.3(OBSL1):c.4095G>C (p.Glu1365Asp)	OBSL1 (E1365D)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 334496	NM_015311.3(OBSL1):c.3561T>C (p.Pro1187=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 334500	NM_015311.3(OBSL1):c.2730C>A (p.Ala910=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 334503	NM_015311.3(OBSL1):c.2682C>T (p.Asp894=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 334508	NM_015311.3(OBSL1):c.2168G>A (p.Arg723Lys)	OBSL1 (R723K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1174895	NM_015311.3(OBSL1):c.1283-18T>A	OBSL1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 193382	NM_015311.3(OBSL1):c.921T>C (p.Leu307=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 290129	NM_015311.3(OBSL1):c.580C>T (p.Leu194=)	OBSL1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign