Related gene-specific medical variations for Gene (Select 29978) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2828655	NM_013444.4(UBQLN2):c.645T>G (p.Ile215Met)	LOC130068339, UBQLN2 (I215M)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15	GUncertain significance
Select item 2690408	NM_013444.4(UBQLN2):c.1522A>G (p.Thr508Ala)	UBQLN2 (T508A)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15	GUncertain significance
Select item 2443452	NM_013444.4(UBQLN2):c.509_510delinsTA (p.Gln170Leu)	LOC130068339, UBQLN2 (Q170L)	Indel (missense variant)	not provided	GUncertain significance
Select item 2170914	NM_013444.4(UBQLN2):c.648G>T (p.Gln216His)	LOC130068339, UBQLN2 (Q216H)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15	GUncertain significance
Select item 1981812	NM_013444.4(UBQLN2):c.494C>T (p.Ser165Phe)	LOC130068339, UBQLN2 (S165F)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15	GUncertain significance
Select item 1210054	NM_013444.4(UBQLN2):c.636G>A (p.Gln212=)	LOC130068339, UBQLN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1178345	NM_013444.4(UBQLN2):c.724G>A (p.Ala242Thr)	LOC130068340, UBQLN2 (A242T)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15	GConflicting classifications of pathogenicity
Select item 1167305	NM_013444.4(UBQLN2):c.717G>A (p.Arg239=)	LOC130068340, UBQLN2	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 15	GBenign
Select item 995355	NM_013444.4(UBQLN2):c.522G>A (p.Gln174=)	LOC130068339, UBQLN2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 995354	NM_013444.4(UBQLN2):c.1499C>A (p.Pro500His)	UBQLN2 (P500H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 816351	GRCh37/hg19 Xp11.21(chrX:56457791-56721134)x3	UBQLN2	Copy number gain	not provided	GUncertain significance
Select item 586918	NM_013444.4(UBQLN2):c.579C>T (p.Ser193=)	LOC130068339, UBQLN2	Single nucleotide variant (synonymous variant)	not provided	GBenign