"Ambry Genetics"[submitter] AND "LOC130058122"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2495086	NM_001005920.4(JMJD8):c.155C>T (p.Thr52Ile)	JMJD8, LOC130058122 (T52I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2211480	NM_001005920.4(JMJD8):c.139C>T (p.Arg47Cys)	JMJD8, LOC130058122 (R47C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2247926	NM_001005920.4(JMJD8):c.137A>G (p.Glu46Gly)	JMJD8, LOC130058122 (E46G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2394390	NM_001005920.4(JMJD8):c.134T>G (p.Val45Gly)	JMJD8, LOC130058122 (V45G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2345209	NM_001005920.4(JMJD8):c.107C>T (p.Ala36Val)	JMJD8, LOC130058122 (A36V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2210884	NM_001005920.4(JMJD8):c.101C>T (p.Pro34Leu)	JMJD8, LOC130058122 (P34L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2285565	NM_001005920.4(JMJD8):c.97G>A (p.Gly33Arg)	JMJD8, LOC130058122 (G33R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2623316	NM_001005920.4(JMJD8):c.92C>A (p.Pro31Gln)	JMJD8, LOC130058122 (P31Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2361018	NM_001005920.4(JMJD8):c.67G>A (p.Ala23Thr)	JMJD8, LOC130058122 (A23T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209306	NM_001005920.4(JMJD8):c.62C>T (p.Ser21Phe)	JMJD8, LOC130058122 (S21F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112428	NM_001005920.4(JMJD8):c.34G>A (p.Ala12Thr)	JMJD8, LOC130058122 (A12T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3112425	NM_001005920.4(JMJD8):c.16C>G (p.Arg6Gly)	JMJD8, LOC130058122 (R6G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241193	NM_001005920.4(JMJD8):c.16C>T (p.Arg6Trp)	JMJD8, LOC130058122 (R6W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance