"Ambry Genetics"[submitter] AND "LOC126863014"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 643310	NM_006892.4(DNMT3B):c.1586C>T (p.Pro529Leu)	DNMT3B, LOC126863014 (P467L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 639128	NM_006892.4(DNMT3B):c.1591C>T (p.Arg531Cys)	DNMT3B, LOC126863014 (R511C +4 more)	Single nucleotide variant (missense variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 +2 more	GUncertain significance
Select item 946912	NM_006892.4(DNMT3B):c.1592G>A (p.Arg531His)	DNMT3B, LOC126863014 (R531H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2150334	NM_006892.4(DNMT3B):c.1609C>T (p.Arg537Trp)	DNMT3B, LOC126863014 (R475W +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1943203	NM_006892.4(DNMT3B):c.1664G>T (p.Gly555Val)	DNMT3B, LOC126863014 (G547V +4 more)	Single nucleotide variant (missense variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency +1 more	GUncertain significance
Select item 2231788	NM_006892.4(DNMT3B):c.1705G>A (p.Ala569Thr)	DNMT3B, LOC126863014 (A473T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

ClinVar