Related gene-specific medical variations for Gene (Select 342618) - ClinVar

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Links from Gene

Items: 31

	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 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 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 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 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 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 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 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 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 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 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 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 1297842	NM_001129820.2(SLFN14):c.1189+142A>C	LOC107985033, 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 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 1238811	NM_001129820.2(SLFN14):c.1190-173T>C	LOC107985033, SLFN14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 988844	NM_001129820.2(SLFN14):c.916G>C (p.Asp306His)	SLFN14 (D306H)	Single nucleotide variant (missense variant)	Abnormal bleeding +1 more	GUncertain significance
Select item 988815	NM_001129820.2(SLFN14):c.3_4insCTAGTCGACTATA (p.Glu2fs)	SLFN14 (E2fs)	Insertion (frameshift variant +1 more)	Abnormal bleeding +1 more	GPathogenic
Select item 988814	NM_001129820.2(SLFN14):c.859A>G (p.Lys287Glu)	SLFN14 (K287E)	Single nucleotide variant (missense variant)	Abnormal bleeding +1 more	GUncertain significance
Select item 988813	NM_001129820.2(SLFN14):c.1481A>G (p.Gln494Arg)	SLFN14 (Q494R)	Single nucleotide variant (missense variant)	Abnormal bleeding +1 more	GUncertain significance
Select item 988812	NM_001129820.2(SLFN14):c.2686T>C (p.Ser896Pro)	SLFN14 (S896P)	Single nucleotide variant (missense variant)	Abnormal bleeding +1 more	GUncertain significance
Select item 436775	NM_001129820.2(SLFN14):c.1358A>G (p.Asn453Ser)	LOC107985033, SLFN14 (N453S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 429635	NM_001129820.2(SLFN14):c.1427C>G (p.Pro476Arg)	LOC107985033, SLFN14 (P476R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance

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Links from Gene

Items: 31