"Ambry Genetics"[submitter] AND "JMJD7"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3112404	NM_005090.4(JMJD7-PLA2G4B):c.34G>C (p.Glu12Gln)	JMJD7, JMJD7-PLA2G4B +1 more (E12Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342031	NM_001114632.2(JMJD7):c.66G>T (p.Glu22Asp)	JMJD7, JMJD7-PLA2G4B (E22D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374400	NM_005090.4(JMJD7-PLA2G4B):c.253G>A (p.Val85Met)	JMJD7, JMJD7-PLA2G4B (V85M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315298	NM_005090.4(JMJD7-PLA2G4B):c.292C>T (p.Arg98Cys)	JMJD7, JMJD7-PLA2G4B (R98C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260629	NM_001114632.2(JMJD7):c.738C>G (p.Asp246Glu)	JMJD7, JMJD7-PLA2G4B (D246E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287207	NM_001114632.2(JMJD7):c.805C>G (p.Leu269Val)	JMJD7, JMJD7-PLA2G4B (L269V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294729	NM_001114632.2(JMJD7):c.829C>T (p.His277Tyr)	JMJD7, JMJD7-PLA2G4B (H277Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287206	NM_001114632.2(JMJD7):c.904T>A (p.Tyr302Asn)	JMJD7, JMJD7-PLA2G4B (Y302N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525960	NM_001114632.2(JMJD7):c.919G>T (p.Asp307Tyr)	JMJD7, JMJD7-PLA2G4B (D307Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311110	NM_001114632.2(JMJD7):c.925C>G (p.Leu309Val)	JMJD7, JMJD7-PLA2G4B (L309V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance