"PreventionGenetics, part of Exact Sciences"[submitter] AND "HLTF"[gen - ClinVar

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Search results

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3052330	NM_003071.4(HLTF):c.2797-7T>C	HLTF	Single nucleotide variant (intron variant)	HLTF-related disorder	GLikely benign
Select item 2464676	NM_003071.4(HLTF):c.2732C>G (p.Ser911Cys)	HLTF (S910C +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3030640	NM_003071.4(HLTF):c.2511G>A (p.Ala837=)	HLTF	Single nucleotide variant (synonymous variant)	HLTF-related disorder	GLikely benign
Select item 3049166	NM_003071.4(HLTF):c.2471A>C (p.Lys824Thr)	HLTF (K823T +1 more)	Single nucleotide variant (missense variant)	HLTF-related disorder	GLikely benign
Select item 3041292	NM_003071.4(HLTF):c.2440C>T (p.Pro814Ser)	HLTF (P813S +1 more)	Single nucleotide variant (missense variant)	HLTF-related disorder	GLikely benign
Select item 3056755	NM_003071.4(HLTF):c.2411T>C (p.Ile804Thr)	HLTF (I803T +1 more)	Single nucleotide variant (missense variant)	HLTF-related disorder	GLikely benign
Select item 2634181	NM_003071.4(HLTF):c.2189G>A (p.Gly730Asp)	HLTF (G729D +1 more)	Single nucleotide variant (missense variant)	HLTF-related disorder	GUncertain significance
Select item 2381994	NM_003071.4(HLTF):c.2186A>G (p.Asn729Ser)	HLTF (N728S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 3036939	NM_003071.4(HLTF):c.2059G>A (p.Ala687Thr)	HLTF (A686T +1 more)	Single nucleotide variant (missense variant)	HLTF-related disorder	GUncertain significance
Select item 2635823	NM_003071.4(HLTF):c.1555G>A (p.Ala519Thr)	HLTF (A518T +1 more)	Single nucleotide variant (missense variant)	HLTF-related disorder	GUncertain significance
Select item 3051879	NM_003071.4(HLTF):c.1304T>C (p.Ile435Thr)	HLTF (I434T +1 more)	Single nucleotide variant (missense variant)	HLTF-related disorder	GLikely benign
Select item 2633347	NM_003071.4(HLTF):c.1256T>C (p.Val419Ala)	HLTF (V419A)	Single nucleotide variant (missense variant)	HLTF-related disorder	GUncertain significance
Select item 3051658	NM_003071.4(HLTF):c.1255G>A (p.Val419Ile)	HLTF (V419I)	Single nucleotide variant (missense variant)	HLTF-related disorder	GLikely benign
Select item 3036937	NM_003071.4(HLTF):c.1227G>A (p.Pro409=)	HLTF	Single nucleotide variant (synonymous variant)	HLTF-related disorder	GLikely benign
Select item 3053768	NM_003071.4(HLTF):c.1151G>A (p.Arg384His)	HLTF (R384H)	Single nucleotide variant (missense variant)	HLTF-related disorder	GUncertain significance
Select item 3050310	NM_003071.4(HLTF):c.1068C>T (p.Asp356=)	HLTF	Single nucleotide variant (synonymous variant)	HLTF-related disorder	GLikely benign
Select item 3061131	NM_003071.4(HLTF):c.1032C>A (p.Asn344Lys)	HLTF (N344K)	Single nucleotide variant (missense variant)	HLTF-related disorder	GUncertain significance
Select item 2456084	NM_003071.4(HLTF):c.1019A>C (p.Lys340Thr)	HLTF (K340T)	Single nucleotide variant (missense variant)	HLTF-related disorder +1 more	GUncertain significance
Select item 3041528	NM_003071.4(HLTF):c.990+6G>A	HLTF	Single nucleotide variant (intron variant)	HLTF-related disorder	GLikely benign
Select item 2629091	NM_003071.4(HLTF):c.855A>T (p.Glu285Asp)	HLTF (E285D)	Single nucleotide variant (missense variant)	HLTF-related disorder	GUncertain significance
Select item 3054258	NM_003071.4(HLTF):c.760C>T (p.Arg254Trp)	HLTF (R254W)	Single nucleotide variant (missense variant)	HLTF-related disorder	GUncertain significance

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Items: 21