"Ambry Genetics"[submitter] AND "SPDYE2"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2288956	NM_001396242.1(SPDYE2):c.44C>T (p.Thr15Met)	POLR2J3-UPK3BL2, SPDYE2 (T15M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168756	NM_001396242.1(SPDYE2):c.131T>A (p.Val44Glu)	POLR2J3-UPK3BL2, SPDYE2 (V44E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3168757	NM_001396242.1(SPDYE2):c.175C>A (p.Pro59Thr)	POLR2J3-UPK3BL2, SPDYE2 (P59T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342628	NM_001396242.1(SPDYE2):c.185C>T (p.Pro62Leu)	POLR2J3-UPK3BL2, SPDYE2 (P62L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366662	NM_001396242.1(SPDYE2):c.241G>A (p.Glu81Lys)	POLR2J3-UPK3BL2, SPDYE2 (E81K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168758	NM_001396242.1(SPDYE2):c.245C>T (p.Pro82Leu)	POLR2J3-UPK3BL2, SPDYE2 (P82L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168759	NM_001396242.1(SPDYE2):c.259G>A (p.Ala87Thr)	POLR2J3-UPK3BL2, SPDYE2 (A87T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359002	NM_001396242.1(SPDYE2):c.442T>G (p.Trp148Gly)	POLR2J3-UPK3BL2, SPDYE2 (W148G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168755	NM_001396242.1(SPDYE2):c.1192C>T (p.Arg398Cys)	POLR2J3-UPK3BL2, SPDYE2 (R398C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance