"PreventionGenetics, part of Exact Sciences"[submitter] AND "UBQLN2"[g - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3046320	NM_013444.4(UBQLN2):c.141G>A (p.Ala47=)	UBQLN2	Single nucleotide variant (synonymous variant)	UBQLN2-related disorder	GLikely benign
Select item 3043611	NM_013444.4(UBQLN2):c.348C>T (p.Ser116=)	UBQLN2	Single nucleotide variant (synonymous variant)	UBQLN2-related disorder	GLikely benign
Select item 1956246	NM_013444.4(UBQLN2):c.405T>C (p.Pro135=)	UBQLN2	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 15 +1 more	GBenign/Likely benign
Select item 1607950	NM_013444.4(UBQLN2):c.1019G>T (p.Ser340Ile)	UBQLN2 (S340I)	Single nucleotide variant (missense variant)	UBQLN2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2714065	NM_013444.4(UBQLN2):c.1068C>A (p.Ala356=)	UBQLN2	Single nucleotide variant (synonymous variant)	UBQLN2-related disorder +1 more	GLikely benign
Select item 3029753	NM_013444.4(UBQLN2):c.1437T>G (p.Gly479=)	UBQLN2	Single nucleotide variant (synonymous variant)	UBQLN2-related disorder	GLikely benign
Select item 3057344	NM_013444.4(UBQLN2):c.1457G>C (p.Gly486Ala)	UBQLN2 (G486A)	Single nucleotide variant (missense variant)	UBQLN2-related disorder	GUncertain significance
Select item 260311	NM_013444.4(UBQLN2):c.1461C>A (p.Thr487=)	UBQLN2	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2024027	NM_013444.4(UBQLN2):c.1491CATAGGCCC[1] (p.499GPI[1])	UBQLN2	Microsatellite (inframe_indel +1 more)	Amyotrophic lateral sclerosis type 15 +2 more	GBenign/Likely benign
Select item 2630374	NM_013444.4(UBQLN2):c.1517C>T (p.Pro506Leu)	UBQLN2 (P506L)	Single nucleotide variant (missense variant)	UBQLN2-related disorder	GLikely pathogenic
Select item 29954	NM_013444.4(UBQLN2):c.1573C>T (p.Pro525Ser)	UBQLN2 (P525S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 3036871	NM_013444.4(UBQLN2):c.1728G>C (p.Pro576=)	UBQLN2	Single nucleotide variant (synonymous variant)	UBQLN2-related disorder	GLikely benign