"PreventionGenetics, part of Exact Sciences"[submitter] AND "DHTKD1"[g - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3030141	NM_018706.7(DHTKD1):c.57C>T (p.Leu19=)	DHTKD1	Single nucleotide variant (synonymous variant)	DHTKD1-related condition	GLikely benign
Select item 716684	NM_018706.7(DHTKD1):c.234C>T (p.Thr78=)	DHTKD1	Single nucleotide variant (synonymous variant)	2-aminoadipic 2-oxoadipic aciduria +1 more	GBenign/Likely benign
Select item 729952	NM_018706.7(DHTKD1):c.443A>C (p.Lys148Thr)	DHTKD1 (K148T)	Single nucleotide variant (missense variant)	DHTKD1-related condition +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 930452	NM_018706.7(DHTKD1):c.718-5A>G	DHTKD1	Single nucleotide variant (intron variant)	DHTKD1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2730782	NM_018706.7(DHTKD1):c.825G>A (p.Ala275=)	DHTKD1	Single nucleotide variant (synonymous variant)	DHTKD1-related condition +1 more	GLikely benign
Select item 810965	NM_018706.7(DHTKD1):c.876C>T (p.Ala292=)	DHTKD1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 791712	NM_018706.7(DHTKD1):c.987+10G>C	DHTKD1	Single nucleotide variant (intron variant)	2-aminoadipic 2-oxoadipic aciduria +2 more	GBenign
Select item 618592	NM_018706.7(DHTKD1):c.1048A>G (p.Asn350Asp)	DHTKD1 (N350D)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria +2 more	GBenign/Likely benign
Select item 374604	NM_018706.7(DHTKD1):c.1079T>C (p.Val360Ala)	DHTKD1 (V360A)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 743045	NM_018706.7(DHTKD1):c.1262A>G (p.Lys421Arg)	DHTKD1 (K421R)	Single nucleotide variant (missense variant)	DHTKD1-related condition +1 more	GLikely benign
Select item 716397	NM_018706.7(DHTKD1):c.1284G>A (p.Leu428=)	DHTKD1	Single nucleotide variant (synonymous variant)	DHTKD1-related condition +1 more	GBenign
Select item 445842	NM_018706.7(DHTKD1):c.1550C>T (p.Ala517Val)	DHTKD1 (A517V)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria +2 more	GBenign/Likely benign
Select item 779601	NM_018706.7(DHTKD1):c.1641G>A (p.Met547Ile)	DHTKD1 (M547I)	Single nucleotide variant (missense variant)	DHTKD1-related condition +1 more	GBenign
Select item 1659409	NM_018706.7(DHTKD1):c.1695C>T (p.Asp565=)	DHTKD1	Single nucleotide variant (synonymous variant)	DHTKD1-related condition +1 more	GBenign/Likely benign
Select item 725320	NM_018706.7(DHTKD1):c.1956T>C (p.Ile652=)	DHTKD1	Single nucleotide variant (synonymous variant)	DHTKD1-related condition +1 more	GLikely benign
Select item 2633452	NM_018706.7(DHTKD1):c.2061G>A (p.Trp687Ter)	DHTKD1 (W687*)	Single nucleotide variant (nonsense)	DHTKD1-related condition +1 more	GPathogenic/Likely pathogenic
Select item 733551	NM_018706.7(DHTKD1):c.2184C>T (p.Asp728=)	DHTKD1	Single nucleotide variant (synonymous variant)	DHTKD1-related condition +2 more	GBenign/Likely benign
Select item 783569	NM_018706.7(DHTKD1):c.2340A>G (p.Gln780=)	DHTKD1	Single nucleotide variant (synonymous variant)	DHTKD1-related condition +1 more	GLikely benign
Select item 1324228	NM_018706.7(DHTKD1):c.2396_2397del (p.Pro799fs)	DHTKD1 (P799fs)	Deletion (frameshift variant)	DHTKD1-related condition +1 more	GLikely pathogenic
Select item 2164699	NM_018706.7(DHTKD1):c.2572+1G>A	DHTKD1	Single nucleotide variant (splice donor variant)	DHTKD1-related condition +1 more	GLikely pathogenic
Select item 714449	NM_018706.7(DHTKD1):c.2722C>A (p.His908Asn)	DHTKD1 (H908N)	Single nucleotide variant (missense variant)	DHTKD1-related condition +1 more	GLikely benign
Select item 770761	NM_018706.7(DHTKD1):c.2742C>T (p.Leu914=)	DHTKD1	Single nucleotide variant (synonymous variant)	2-aminoadipic 2-oxoadipic aciduria +2 more	GConflicting classifications of pathogenicity

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Items: 23