"GeneDx"[submitter] AND "KDF1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59928	GRCh38/hg38 1p36.11-35.3(chr1:26807012-27685191)x1	AHDC1, CD164L2 +98 more	Copy number loss	See cases	GPathogenic
Select item 1810123	NM_152365.3(KDF1):c.22C>T (p.Arg8Cys)	KDF1 (R8C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1722844	NM_152365.3(KDF1):c.8G>A (p.Arg3His)	KDF1 (R3H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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