"Ambry Genetics"[submitter] AND "SLFN14"[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3165971	NM_001129820.2(SLFN14):c.2625C>T (p.Val875=)	SLFN14	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3320451	NM_001129820.2(SLFN14):c.2576A>G (p.His859Arg)	SLFN14 (H859R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466395	NM_001129820.2(SLFN14):c.2560G>A (p.Gly854Ser)	SLFN14 (G854S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3320458	NM_001129820.2(SLFN14):c.2543T>G (p.Val848Gly)	SLFN14 (V848G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 756570	NM_001129820.2(SLFN14):c.2472C>A (p.Asp824Glu)	SLFN14 (D824E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2305913	NM_001129820.2(SLFN14):c.2455T>C (p.Cys819Arg)	SLFN14 (C819R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1337507	NM_001129820.2(SLFN14):c.2419C>A (p.Gln807Lys)	SLFN14 (Q807K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3165970	NM_001129820.2(SLFN14):c.2291T>C (p.Leu764Ser)	SLFN14 (L764S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3165969	NM_001129820.2(SLFN14):c.2261C>T (p.Pro754Leu)	SLFN14 (P754L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254545	NM_001129820.2(SLFN14):c.2216C>T (p.Ala739Val)	SLFN14 (A739V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229409	NM_001129820.2(SLFN14):c.2207T>C (p.Leu736Pro)	SLFN14 (L736P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3320453	NM_001129820.2(SLFN14):c.2200T>G (p.Cys734Gly)	SLFN14 (C734G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300854	NM_001129820.2(SLFN14):c.2174G>A (p.Arg725Gln)	SLFN14 (R725Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3320457	NM_001129820.2(SLFN14):c.2131G>T (p.Ala711Ser)	SLFN14 (A711S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221483	NM_001129820.2(SLFN14):c.2074G>A (p.Glu692Lys)	SLFN14 (E692K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540301	NM_001129820.2(SLFN14):c.1964A>C (p.Lys655Thr)	SLFN14 (K655T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3320452	NM_001129820.2(SLFN14):c.1894G>T (p.Asp632Tyr)	SLFN14 (D632Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472523	NM_001129820.2(SLFN14):c.1853C>A (p.Pro618Gln)	SLFN14 (P618Q)	Single nucleotide variant (missense variant)	SLFN14-related disorder +1 more	GUncertain significance
Select item 2234517	NM_001129820.2(SLFN14):c.1799C>G (p.Thr600Arg)	SLFN14 (T600R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3165968	NM_001129820.2(SLFN14):c.1783C>T (p.Pro595Ser)	SLFN14 (P595S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388017	NM_001129820.2(SLFN14):c.1718T>C (p.Met573Thr)	SLFN14 (M573T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213245	NM_001129820.2(SLFN14):c.1396C>T (p.Pro466Ser)	LOC107985033, SLFN14 (P466S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2303878	NM_001129820.2(SLFN14):c.1387G>A (p.Val463Ile)	LOC107985033, SLFN14 (V463I)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165967	NM_001129820.2(SLFN14):c.1372G>A (p.Ala458Thr)	LOC107985033, SLFN14 (A458T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165966	NM_001129820.2(SLFN14):c.1195C>A (p.Gln399Lys)	LOC107985033, SLFN14 (Q399K)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2383522	NM_001129820.2(SLFN14):c.1192A>G (p.Thr398Ala)	LOC107985033, SLFN14 (T398A)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2411278	NM_001129820.2(SLFN14):c.1190T>G (p.Val397Gly)	LOC107985033, SLFN14 (V397G)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2340240	NM_001129820.2(SLFN14):c.1143A>G (p.Ile381Met)	LOC107985033, SLFN14 (I381M)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2345438	NM_001129820.2(SLFN14):c.1126A>T (p.Ser376Cys)	LOC107985033, SLFN14 (S376C)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1339107	NM_001129820.2(SLFN14):c.1108G>A (p.Ala370Thr)	LOC107985033, SLFN14 (A370T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2389627	NM_001129820.2(SLFN14):c.1048G>C (p.Asp350His)	SLFN14 (D350H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3165965	NM_001129820.2(SLFN14):c.1025A>G (p.Glu342Gly)	SLFN14 (E342G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588469	NM_001129820.2(SLFN14):c.1012C>T (p.Arg338Trp)	SLFN14 (R338W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3320455	NM_001129820.2(SLFN14):c.962T>C (p.Val321Ala)	SLFN14 (V321A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536845	NM_001129820.2(SLFN14):c.907G>C (p.Asp303His)	SLFN14 (D303H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3165976	NM_001129820.2(SLFN14):c.784G>A (p.Val262Met)	SLFN14 (V262M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597369	NM_001129820.2(SLFN14):c.775T>C (p.Trp259Arg)	SLFN14 (W259R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2592025	NM_001129820.2(SLFN14):c.770G>A (p.Cys257Tyr)	SLFN14 (C257Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3165975	NM_001129820.2(SLFN14):c.742G>A (p.Asp248Asn)	SLFN14 (D248N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3165974	NM_001129820.2(SLFN14):c.694G>T (p.Val232Phe)	SLFN14 (V232F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 225535	NM_001129820.2(SLFN14):c.652A>G (p.Lys218Glu)	SLFN14 (K218E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 2390856	NM_001129820.2(SLFN14):c.611T>A (p.Phe204Tyr)	SLFN14 (F204Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599234	NM_001129820.2(SLFN14):c.548T>G (p.Met183Arg)	SLFN14 (M183R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522862	NM_001129820.2(SLFN14):c.539A>G (p.Glu180Gly)	SLFN14 (E180G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411186	NM_001129820.2(SLFN14):c.528C>G (p.Cys176Trp)	SLFN14 (C176W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3320456	NM_001129820.2(SLFN14):c.489G>T (p.Arg163Ser)	SLFN14 (R163S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591499	NM_001129820.2(SLFN14):c.485C>A (p.Pro162Gln)	SLFN14 (P162Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3165973	NM_001129820.2(SLFN14):c.386A>G (p.Asn129Ser)	SLFN14 (N129S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3165972	NM_001129820.2(SLFN14):c.380G>A (p.Arg127His)	SLFN14 (R127H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556737	NM_001129820.2(SLFN14):c.379C>A (p.Arg127Ser)	SLFN14 (R127S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208411	NM_001129820.2(SLFN14):c.307C>A (p.His103Asn)	SLFN14 (H103N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210655	NM_001129820.2(SLFN14):c.173G>C (p.Gly58Ala)	SLFN14 (G58A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589712	NM_001129820.2(SLFN14):c.139C>T (p.Arg47Trp)	SLFN14 (R47W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312101	NM_001129820.2(SLFN14):c.46A>G (p.Ile16Val)	SLFN14 (I16V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3320459	NM_001129820.2(SLFN14):c.22A>G (p.Thr8Ala)	SLFN14 (T8A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2567198	NM_001129820.2(SLFN14):c.7A>G (p.Ser3Gly)	SLFN14 (S3G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 56