ANKRD42-DT[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	LOC130006570, LOC130006571 +474 more	Copy number loss	See cases	GPathogenic
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	See cases	GPathogenic
Select item 59771	GRCh38/hg38 11q14.1-14.2(chr11:78362208-86165380)x3	ANKRD42, ANKRD42-DT +117 more	Copy number gain	See cases	GPathogenic
Select item 155228	GRCh38/hg38 11q14.1(chr11:83066124-84475390)x3	ANKRD42, ANKRD42-DT +28 more	Copy number gain	See cases	GUncertain significance
Select item 2390959	NM_001346413.3(PCF11):c.4849T>C (p.Ser1617Pro)	PCF11, ANKRD42-DT (S1486P +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2538490	NM_001346413.3(PCF11):c.4993T>C (p.Cys1665Arg)	ANKRD42-DT, PCF11 (C1534R +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2553041	NM_001346413.3(PCF11):c.5033C>T (p.Thr1678Ile)	ANKRD42-DT, PCF11 (T1546I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372824	NM_001346413.3(PCF11):c.5050G>A (p.Glu1684Lys)	ANKRD42-DT, PCF11 (E1684K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar