"Ambry Genetics"[submitter] AND "LOC126861109"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 985250	NM_021008.4(DEAF1):c.1503+3A>G	LOC126861109, DEAF1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1353158	NM_021008.4(DEAF1):c.1382A>G (p.Asn461Ser)	DEAF1, LOC126861109 (N219S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1439428	NM_021008.4(DEAF1):c.1349C>T (p.Pro450Leu)	DEAF1, LOC126861109 (P208L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1573602	NM_021008.4(DEAF1):c.1318G>A (p.Ala440Thr)	DEAF1, LOC126861109 (A198T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1473843	NM_021008.4(DEAF1):c.1312C>A (p.Pro438Thr)	DEAF1, LOC126861109 (P196T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1487853	NM_021008.4(DEAF1):c.1292C>T (p.Pro431Leu)	DEAF1, LOC126861109 (P189L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

ClinVar