"Ambry Genetics"[submitter] AND "LOC130067394"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2231655	NM_138797.4(ANKRD54):c.323T>G (p.Val108Gly)	ANKRD54, LOC130067394 (V108G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2229632	NM_138797.4(ANKRD54):c.302T>G (p.Leu101Arg)	ANKRD54, LOC130067394 (L101R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3126897	NM_138797.4(ANKRD54):c.262G>A (p.Ala88Thr)	ANKRD54, LOC130067394 (A88T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2246269	NM_138797.4(ANKRD54):c.259C>A (p.Pro87Thr)	ANKRD54, LOC130067394 (P87T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2405660	NM_138797.4(ANKRD54):c.185A>C (p.Gln62Pro)	ANKRD54, LOC130067394 (Q62P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2611601	NM_138797.4(ANKRD54):c.127G>A (p.Gly43Arg)	ANKRD54, LOC130067394 (G43R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2531336	NM_138797.4(ANKRD54):c.118G>A (p.Ala40Thr)	ANKRD54, LOC130067394 (A40T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

ClinVar