"KDF1-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2040700	NM_152365.3(KDF1):c.1167G>A (p.Ser389=)	KDF1	Single nucleotide variant (synonymous variant)	KDF1-related disorder +1 more	GBenign/Likely benign
Select item 782077	NM_152365.3(KDF1):c.1040-6C>T	KDF1	Single nucleotide variant (intron variant)	KDF1-related disorder +1 more	GBenign/Likely benign
Select item 3052313	NM_152365.3(KDF1):c.897C>T (p.Arg299=)	KDF1	Single nucleotide variant (synonymous variant)	KDF1-related disorder	GLikely benign
Select item 1594784	NM_152365.3(KDF1):c.849G>A (p.Thr283=)	KDF1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2049806	NM_152365.3(KDF1):c.657C>A (p.Phe219Leu)	KDF1 (F219L)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 782681	NM_152365.3(KDF1):c.433C>T (p.Arg145Trp)	KDF1 (R145W)	Single nucleotide variant (missense variant)	KDF1-related disorder +1 more	GBenign
Select item 3043086	NM_152365.3(KDF1):c.321G>T (p.Arg107=)	KDF1	Single nucleotide variant (synonymous variant)	KDF1-related disorder	GLikely benign
Select item 2857743	NM_152365.3(KDF1):c.302G>A (p.Arg101His)	KDF1 (R101H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3041332	NM_152365.3(KDF1):c.273C>T (p.Cys91=)	KDF1	Single nucleotide variant (synonymous variant)	KDF1-related disorder	GLikely benign
Select item 2067962	NM_152365.3(KDF1):c.200C>T (p.Pro67Leu)	KDF1 (P67L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign