ClinVar for MedGen (Select 934764) - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 1803221	NM_001129820.2(SLFN14):c.2637del (p.Ser880fs)	SLFN14 (S880fs)	Deletion (frameshift variant)	Platelet-type bleeding disorder 20	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 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 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 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 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 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 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
Select item 1033310	NM_001129820.2(SLFN14):c.2153del (p.Pro718fs)	SLFN14 (P718fs)	Deletion (frameshift variant)	Platelet-type bleeding disorder 20	GUncertain significance
Select item 1033309	NM_001129820.2(SLFN14):c.2146C>T (p.Leu716Phe)	SLFN14 (L716F)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 20	GUncertain significance
Select item 1030178	NM_001129820.2(SLFN14):c.1904C>T (p.Thr635Ile)	SLFN14 (T635I)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 20	GUncertain significance
Select item 732258	NM_001129820.2(SLFN14):c.1456C>T (p.Arg486Ter)	SLFN14 (R486*)	Single nucleotide variant (nonsense)	Platelet-type bleeding disorder 20 +1 more	GConflicting classifications of pathogenicity
Select item 225536	NM_001129820.2(SLFN14):c.667C>T (p.Arg223Trp)	SLFN14 (R223W)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 20	GPathogenic
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 225534	NM_001129820.2(SLFN14):c.657A>T (p.Lys219Asn)	SLFN14 (K219N)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 20 +2 more	GConflicting classifications of pathogenicity
Select item 225533	NM_001129820.2(SLFN14):c.659T>A (p.Val220Asp)	SLFN14 (V220D)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 20 +2 more	GPathogenic/Likely pathogenic

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Items: 25