Related gene-specific medical variations for Gene (Select 118460) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3091216	NM_058219.3(EXOSC6):c.671G>C (p.Gly224Ala)	EXOSC6, LOC130059324 (G224A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091214	NM_058219.3(EXOSC6):c.478G>A (p.Ala160Thr)	EXOSC6, LOC130059324 (A160T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091209	NM_058219.3(EXOSC6):c.290T>A (p.Leu97His)	EXOSC6, LOC130059325 (L97H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597356	NM_058219.3(EXOSC6):c.562G>A (p.Ala188Thr)	EXOSC6, LOC130059324 (A188T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555140	NM_058219.3(EXOSC6):c.740G>C (p.Gly247Ala)	EXOSC6, LOC130059324 (G247A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526594	NM_058219.3(EXOSC6):c.656T>C (p.Leu219Pro)	EXOSC6, LOC130059324 (L219P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482609	NM_058219.3(EXOSC6):c.530A>G (p.Tyr177Cys)	EXOSC6, LOC130059324 (Y177C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394412	NM_058219.3(EXOSC6):c.622G>A (p.Ala208Thr)	EXOSC6, LOC130059324 (A208T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385715	NM_058219.3(EXOSC6):c.502G>T (p.Ala168Ser)	EXOSC6, LOC130059324 (A168S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378027	NM_058219.3(EXOSC6):c.601C>T (p.Arg201Trp)	EXOSC6, LOC130059324 (R201W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272458	NM_058219.3(EXOSC6):c.217G>C (p.Glu73Gln)	EXOSC6, LOC130059325 (E73Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 395413	GRCh37/hg19 16q22.1(chr16:70284178-70285129)x3	EXOSC6	Copy number gain	See cases	GBenign