"Clinical Genetics, Academic Medical Center"[submitter] AND "DHTKD1"[g - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 719446	NM_018706.7(DHTKD1):c.33G>A (p.Arg11=)	DHTKD1	Single nucleotide variant (synonymous variant)	2-aminoadipic 2-oxoadipic aciduria +1 more	GLikely benign
Select item 1168371	NM_018706.7(DHTKD1):c.58T>C (p.Phe20Leu)	DHTKD1 (F20L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2Q +1 more	GBenign
Select item 774680	NM_018706.7(DHTKD1):c.209C>G (p.Ala70Gly)	DHTKD1 (A70G)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria +1 more	GLikely benign
Select item 785771	NM_018706.7(DHTKD1):c.628G>T (p.Ala210Ser)	DHTKD1 (A210S)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria +2 more	GBenign/Likely benign
Select item 1168372	NM_018706.7(DHTKD1):c.814T>G (p.Tyr272Asp)	DHTKD1 (Y272D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2Q +1 more	GBenign
Select item 1169828	NM_018706.7(DHTKD1):c.951C>T (p.Asn317=)	DHTKD1	Single nucleotide variant (synonymous variant)	not provided +1 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)	Charcot-Marie-Tooth disease axonal type 2Q +1 more	GBenign
Select item 1170354	NM_018706.7(DHTKD1):c.1938T>C (p.Phe646=)	DHTKD1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2Q +1 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 1206333	NM_018706.7(DHTKD1):c.2303T>C (p.Met768Thr)	DHTKD1 (M768T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1169829	NM_018706.7(DHTKD1):c.2320-4G>A	DHTKD1	Single nucleotide variant (intron variant)	2-aminoadipic 2-oxoadipic aciduria	GBenign