"Baylor Genetics"[submitter] AND "DHTKD1"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1029713	NM_018706.7(DHTKD1):c.71A>G (p.Tyr24Cys)	DHTKD1 (Y24C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1033499	NM_018706.7(DHTKD1):c.446G>A (p.Arg149Gln)	DHTKD1 (R149Q)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria +1 more	GUncertain significance
Select item 1033500	NM_018706.7(DHTKD1):c.920C>T (p.Ser307Phe)	DHTKD1 (S307F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2Q +1 more	GUncertain significance
Select item 1033496	NM_018706.7(DHTKD1):c.1363C>T (p.Arg455Ter)	DHTKD1 (R455*)	Single nucleotide variant (nonsense)	2-aminoadipic 2-oxoadipic aciduria +1 more	GPathogenic/Likely pathogenic
Select item 1029712	NM_018706.7(DHTKD1):c.1382C>G (p.Thr461Arg)	DHTKD1 (T461R)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 1029711	NM_018706.7(DHTKD1):c.1382C>A (p.Thr461Lys)	DHTKD1 (T461K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1029714	NM_018706.7(DHTKD1):c.1594C>T (p.Arg532Trp)	DHTKD1 (R532W)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 467824	NM_018706.7(DHTKD1):c.1897-1G>A	DHTKD1	Single nucleotide variant (splice acceptor variant)	2-aminoadipic 2-oxoadipic aciduria +1 more	GPathogenic/Likely pathogenic
Select item 39564	NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg)	DHTKD1 (G729R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 1033497	NM_018706.7(DHTKD1):c.2266A>T (p.Asn756Tyr)	DHTKD1 (N756Y)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2442096	NM_018706.7(DHTKD1):c.2320-2A>T	DHTKD1	Single nucleotide variant (splice acceptor variant)	2-aminoadipic 2-oxoadipic aciduria	GLikely pathogenic
Select item 585057	NM_018706.7(DHTKD1):c.2747A>G (p.Lys916Arg)	DHTKD1 (K916R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance