"GeneDx"[submitter] AND "SLFN14"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1239057	NM_001129820.2(SLFN14):c.2713C>T (p.Leu905Phe)	SLFN14 (L905F)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 453121	NM_001129820.2(SLFN14):c.2692G>C (p.Ala898Pro)	SLFN14 (A898P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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
Select item 1282113	NM_001129820.2(SLFN14):c.1190-121T>C	LOC107985033, SLFN14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238811	NM_001129820.2(SLFN14):c.1190-173T>C	LOC107985033, SLFN14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255166	NM_001129820.2(SLFN14):c.1190-213C>A	LOC107985033, SLFN14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297842	NM_001129820.2(SLFN14):c.1189+142A>C	LOC107985033, SLFN14	Single nucleotide variant (intron variant)	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 3373748	NM_001129820.2(SLFN14):c.1103C>T (p.Ser368Leu)	LOC107985033, SLFN14 (S368L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	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 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 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 1289811	NM_001129820.2(SLFN14):c.-44-306C>T	SLFN14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3361779	NM_001129820.2(SLFN14):c.2506dup (p.Met836fs)	SLFN14 (M836fs)	Duplication (frameshift variant)	not provided	GUncertain significance