"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "DHTKD1"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1163325	NM_018706.7(DHTKD1):c.8C>G (p.Ser3Cys)	DHTKD1 (S3C)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria +1 more	GUncertain significance
Select item 1163326	NM_018706.7(DHTKD1):c.127C>A (p.Pro43Thr)	DHTKD1, LOC130003343 (P43T)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria +1 more	GUncertain significance
Select item 1163327	NM_018706.7(DHTKD1):c.420G>C (p.Gln140His)	DHTKD1 (Q140H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1694020	NM_018706.7(DHTKD1):c.522G>C (p.Gln174His)	DHTKD1 (Q174H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1371283	NM_018706.7(DHTKD1):c.700_701delinsGG (p.Leu234Gly)	DHTKD1 (L234G)	Indel (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 439598	NM_018706.7(DHTKD1):c.721A>T (p.Met241Leu)	DHTKD1 (M241L)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria +2 more	GConflicting classifications of pathogenicity
Select item 1694021	NM_018706.7(DHTKD1):c.1304A>G (p.His435Arg)	DHTKD1 (H435R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 574714	NM_018706.7(DHTKD1):c.1309G>T (p.Glu437Ter)	DHTKD1 (E437*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 1163328	NM_018706.7(DHTKD1):c.1508T>C (p.Leu503Pro)	DHTKD1 (L503P)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria +1 more	GUncertain significance
Select item 1694022	NM_018706.7(DHTKD1):c.1681G>C (p.Glu561Gln)	DHTKD1 (E561Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1421491	NM_018706.7(DHTKD1):c.1742C>G (p.Ser581Cys)	DHTKD1 (S581C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2419711	NM_018706.7(DHTKD1):c.2096A>G (p.His699Arg)	DHTKD1 (H699R)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria +1 more	GUncertain significance
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 2683095	NM_018706.7(DHTKD1):c.2302A>T (p.Met768Leu)	DHTKD1 (M768L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 420289	NM_018706.7(DHTKD1):c.2318C>T (p.Pro773Leu)	DHTKD1 (P773L)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria +2 more	GUncertain significance
Select item 1694023	NM_018706.7(DHTKD1):c.2377G>A (p.Gly793Ser)	DHTKD1 (G793S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance