ClinVar for Gene (Select 342618) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361779	NM_001129820.2(SLFN14):c.2506dup (p.Met836fs)	SLFN14 (M836fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3353474	NM_001129820.2(SLFN14):c.2524C>A (p.His842Asn)	SLFN14 (H842N)	Single nucleotide variant (missense variant)	SLFN14-related disorder	GUncertain significance
Select item 3353157	NM_001129820.2(SLFN14):c.1089C>T (p.Asn363=)	LOC107985033, SLFN14	Single nucleotide variant (non-coding transcript variant +1 more)	SLFN14-related disorder	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 3320458	NM_001129820.2(SLFN14):c.2543T>G (p.Val848Gly)	SLFN14 (V848G)	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 3320456	NM_001129820.2(SLFN14):c.489G>T (p.Arg163Ser)	SLFN14 (R163S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3320453	NM_001129820.2(SLFN14):c.2200T>G (p.Cys734Gly)	SLFN14 (C734G)	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 3320451	NM_001129820.2(SLFN14):c.2576A>G (p.His859Arg)	SLFN14 (H859R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3243102	NC_000017.10:g.(?_33445500)_(34079869_?)del	AP2B1, FNDC8 +13 more	Deletion	Peroxisome biogenesis disorder 3A (Zellweger)	GPathogenic
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
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 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 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 3165971	NM_001129820.2(SLFN14):c.2625C>T (p.Val875=)	SLFN14	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
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 3165968	NM_001129820.2(SLFN14):c.1783C>T (p.Pro595Ser)	SLFN14 (P595S)	Single nucleotide variant (missense variant)	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 3165965	NM_001129820.2(SLFN14):c.1025A>G (p.Glu342Gly)	SLFN14 (E342G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063495	GRCh37/hg19 17q12(chr17:33316754-33890206)x1	FNDC8, LIG3 +11 more	Copy number loss	not specified	GUncertain significance
Select item 3059654	NM_001129820.2(SLFN14):c.1914C>T (p.Thr638=)	SLFN14	Single nucleotide variant (synonymous variant)	SLFN14-related disorder	GBenign
Select item 3058998	NM_001129820.2(SLFN14):c.1650G>C (p.Val550=)	SLFN14	Single nucleotide variant (synonymous variant)	SLFN14-related disorder	GBenign
Select item 3043801	NM_001129820.2(SLFN14):c.394C>T (p.Arg132Trp)	SLFN14 (R132W)	Single nucleotide variant (missense variant)	SLFN14-related disorder	GLikely benign
Select item 3043276	NM_001129820.2(SLFN14):c.588C>T (p.Leu196=)	SLFN14	Single nucleotide variant (synonymous variant)	SLFN14-related disorder	GLikely benign
Select item 3041348	NM_001129820.2(SLFN14):c.861G>A (p.Lys287=)	SLFN14	Single nucleotide variant (synonymous variant)	SLFN14-related disorder	GLikely benign
Select item 3038068	NM_001129820.2(SLFN14):c.2309A>T (p.Tyr770Phe)	SLFN14 (Y770F)	Single nucleotide variant (missense variant)	SLFN14-related disorder	GLikely benign
Select item 3034606	NM_001129820.2(SLFN14):c.1190-10G>A	LOC107985033, SLFN14	Single nucleotide variant (non-coding transcript variant +1 more)	SLFN14-related disorder	GBenign
Select item 3033299	NM_001129820.2(SLFN14):c.1986T>C (p.Asp662=)	SLFN14	Single nucleotide variant (synonymous variant)	SLFN14-related disorder	GBenign
Select item 2684845	GRCh37/hg19 17q12(chr17:33769812-33983362)x3	AP2B1, PEX12 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2684844	GRCh37/hg19 17q12(chr17:33758250-34082140)x3	AP2B1, GAS2L2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2664215	NM_001129820.2(SLFN14):c.1382T>A (p.Ile461Lys)	LOC107985033, SLFN14 (I461K)	Single nucleotide variant (non-coding transcript variant +1 more)	Platelet-type bleeding disorder 20	GUncertain significance
Select item 2647670	NM_001129820.2(SLFN14):c.379C>T (p.Arg127Cys)	SLFN14 (R127C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2631433	NM_001129820.2(SLFN14):c.496A>T (p.Lys166Ter)	SLFN14 (K166*)	Single nucleotide variant (nonsense)	SLFN14-related disorder	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 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 2591499	NM_001129820.2(SLFN14):c.485C>A (p.Pro162Gln)	SLFN14 (P162Q)	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 2588469	NM_001129820.2(SLFN14):c.1012C>T (p.Arg338Trp)	SLFN14 (R338W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2584871	NM_001129820.2(SLFN14):c.574A>T (p.Lys192Ter)	SLFN14 (K192*)	Single nucleotide variant (nonsense)	Platelet-type bleeding disorder 20	GUncertain significance
Select item 2579302	NM_001129820.2(SLFN14):c.1840T>C (p.Phe614Leu)	SLFN14 (F614L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2574697	GRCh37/hg19 17q11.2-12(chr17:30572862-35843988)	AATF, ACACA +66 more	Copy number loss	Chromosome 17q12 deletion syndrome	GPathogenic
Select item 2567198	NM_001129820.2(SLFN14):c.7A>G (p.Ser3Gly)	SLFN14 (S3G)	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 2540301	NM_001129820.2(SLFN14):c.1964A>C (p.Lys655Thr)	SLFN14 (K655T)	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 2522862	NM_001129820.2(SLFN14):c.539A>G (p.Glu180Gly)	SLFN14 (E180G)	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 2466395	NM_001129820.2(SLFN14):c.2560G>A (p.Gly854Ser)	SLFN14 (G854S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2422813	NC_000017.10:g.(?_33475283)_(34079869_?)dup	AP2B1, GAS2L2 +10 more	Duplication	Peroxisome biogenesis disorder 3A (Zellweger)	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 2411186	NM_001129820.2(SLFN14):c.528C>G (p.Cys176Trp)	SLFN14 (C176W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 2388017	NM_001129820.2(SLFN14):c.1718T>C (p.Met573Thr)	SLFN14 (M573T)	Single nucleotide variant (missense variant)	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 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 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 2312101	NM_001129820.2(SLFN14):c.46A>G (p.Ile16Val)	SLFN14 (I16V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 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 2300854	NM_001129820.2(SLFN14):c.2174G>A (p.Arg725Gln)	SLFN14 (R725Q)	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 2234517	NM_001129820.2(SLFN14):c.1799C>G (p.Thr600Arg)	SLFN14 (T600R)	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 2221483	NM_001129820.2(SLFN14):c.2074G>A (p.Glu692Lys)	SLFN14 (E692K)	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 2210655	NM_001129820.2(SLFN14):c.173G>C (p.Gly58Ala)	SLFN14 (G58A)	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 1803221	NM_001129820.2(SLFN14):c.2637del (p.Ser880fs)	SLFN14 (S880fs)	Deletion (frameshift variant)	Platelet-type bleeding disorder 20	GUncertain significance
Select item 1707622	GRCh37/hg19 17q12(chr17:33766040-34001896)x3	SLFN12, SLFN12L +4 more	Copy number gain	Isolated anorectal malformation	GUncertain significance
Select item 1704375	NM_001129820.2(SLFN14):c.1759C>T (p.Arg587Cys)	SLFN14 (R587C)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 20	GUncertain significance
Select item 1703796	NM_001129820.2(SLFN14):c.643T>C (p.Phe215Leu)	SLFN14 (F215L)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 20	GUncertain significance
Select item 1339709	NM_001129820.2(SLFN14):c.1904+1G>T	SLFN14	Single nucleotide variant (splice donor variant)	not specified	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 1338131	NM_001129820.2(SLFN14):c.1583G>A (p.Arg528His)	SLFN14 (R528H)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
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 1336064	NM_001129820.2(SLFN14):c.1559G>A (p.Ser520Asn)	SLFN14 (S520N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1336063	NM_001129820.2(SLFN14):c.1277C>A (p.Thr426Asn)	LOC107985033, SLFN14 (T426N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1333129	NM_001129820.2(SLFN14):c.278A>G (p.Gln93Arg)	SLFN14 (Q93R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1333128	NM_001129820.2(SLFN14):c.1348A>G (p.Lys450Glu)	LOC107985033, SLFN14 (K450E)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 1331705	NM_001129820.2(SLFN14):c.426T>G (p.Ser142Arg)	SLFN14 (S142R)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 20	GLikely benign
Select item 1310115	NM_001129820.2(SLFN14):c.2552C>T (p.Pro851Leu)	SLFN14 (P851L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1297842	NM_001129820.2(SLFN14):c.1189+142A>C	LOC107985033, SLFN14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289811	NM_001129820.2(SLFN14):c.-44-306C>T	SLFN14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286606	NM_001129820.2(SLFN14):c.1061-11T>C	LOC107985033, SLFN14	Single nucleotide variant (non-coding transcript variant +1 more)	Platelet-type bleeding disorder 20 +1 more	GBenign
Select item 1282113	NM_001129820.2(SLFN14):c.1190-121T>C	LOC107985033, SLFN14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275748	NM_001129820.2(SLFN14):c.1356G>T (p.Gln452His)	LOC107985033, SLFN14 (Q452H)	Single nucleotide variant (non-coding transcript variant +1 more)	Platelet-type bleeding disorder 20	GUncertain significance
Select item 1255166	NM_001129820.2(SLFN14):c.1190-213C>A	LOC107985033, SLFN14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246755	NM_001129820.2(SLFN14):c.1066C>T (p.Pro356Ser)	LOC107985033, SLFN14 (P356S)	Single nucleotide variant (non-coding transcript variant +1 more)	Platelet-type bleeding disorder 20 +1 more	GBenign
Select item 1245979	NM_001129820.2(SLFN14):c.1061-184G>C	LOC107985033, SLFN14	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1245977	NM_001129820.2(SLFN14):c.2735A>T (p.Tyr912Phe)	SLFN14 (Y912F)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1244326	NM_001129820.2(SLFN14):c.1153A>G (p.Lys385Glu)	LOC107985033, SLFN14 (K385E)	Single nucleotide variant (non-coding transcript variant +1 more)	Platelet-type bleeding disorder 20 +1 more	GBenign
Select item 1239057	NM_001129820.2(SLFN14):c.2713C>T (p.Leu905Phe)	SLFN14 (L905F)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign

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