C3554366[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1168371	NM_018706.7(DHTKD1):c.58T>C (p.Phe20Leu)	DHTKD1 (F20L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1239760	NM_018706.7(DHTKD1):c.310+40C>T	DHTKD1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1168372	NM_018706.7(DHTKD1):c.814T>G (p.Tyr272Asp)	DHTKD1 (Y272D)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1255482	NM_018706.7(DHTKD1):c.1671+35C>G	DHTKD1	Single nucleotide variant (intron variant)	2-aminoadipic 2-oxoadipic aciduria +2 more	GBenign
Select item 1170352	NM_018706.7(DHTKD1):c.1821C>G (p.Ile607Met)	DHTKD1 (I607M)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1170353	NM_018706.7(DHTKD1):c.1911A>C (p.Pro637=)	DHTKD1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1170354	NM_018706.7(DHTKD1):c.1938T>C (p.Phe646=)	DHTKD1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1170355	NM_018706.7(DHTKD1):c.2079C>T (p.Ile693=)	DHTKD1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1252136	NM_018706.7(DHTKD1):c.2320-25A>G	DHTKD1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2Q +2 more	GBenign

ClinVar