"Ambry Genetics"[submitter] AND "EXOSC8"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2328413	NM_181503.3(EXOSC8):c.7G>T (p.Ala3Ser)	EXOSC8 (A3S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276847	NM_181503.3(EXOSC8):c.15C>G (p.Phe5Leu)	EXOSC8, LOC130009581 (F5L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091223	NM_181503.3(EXOSC8):c.104C>T (p.Thr35Ile)	EXOSC8 (T35I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232172	NM_181503.3(EXOSC8):c.166A>G (p.Thr56Ala)	EXOSC8 (T56A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1904238	NM_181503.3(EXOSC8):c.211A>G (p.Thr71Ala)	EXOSC8 (T71A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2085440	NM_181503.3(EXOSC8):c.427G>A (p.Asp143Asn)	EXOSC8 (D143N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2346167	NM_181503.3(EXOSC8):c.460T>C (p.Phe154Leu)	EXOSC8 (F154L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261988	NM_181503.3(EXOSC8):c.488T>C (p.Val163Ala)	EXOSC8 (V163A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2081448	NM_181503.3(EXOSC8):c.508A>G (p.Ile170Val)	EXOSC8 (I170V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2599392	NM_181503.3(EXOSC8):c.761G>A (p.Arg254Gln)	EXOSC8 (R254Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211128	NM_181503.3(EXOSC8):c.766G>T (p.Val256Phe)	EXOSC8 (V256F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 218859	NM_181503.3(EXOSC8):c.808A>T (p.Ile270Phe)	EXOSC8 (I270F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335152	NM_181503.3(EXOSC8):c.815G>T (p.Ser272Ile)	EXOSC8 (S272I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495234	NM_181503.3(EXOSC8):c.824C>T (p.Pro275Leu)	EXOSC8 (P275L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance