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

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2392629	NM_004402.4(DFFB):c.54G>T (p.Lys18Asn)	DFFB, LOC129929205 (K18N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3271674	NM_004402.4(DFFB):c.149A>G (p.Glu50Gly)	DFFB (E50G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2254588	NM_004402.4(DFFB):c.167C>T (p.Thr56Met)	DFFB (T56M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3081811	NM_004402.4(DFFB):c.179T>G (p.Phe60Cys)	DFFB (F60C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3271673	NM_004402.4(DFFB):c.181C>T (p.Pro61Ser)	DFFB (P61S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2544488	NM_004402.4(DFFB):c.190C>T (p.Pro64Ser)	DFFB (P64S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3271677	NM_004402.4(DFFB):c.259C>T (p.Arg87Cys)	DFFB (R23C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205857	NM_004402.4(DFFB):c.307G>A (p.Ala103Thr)	DFFB (A127T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480215	NM_004402.4(DFFB):c.371A>G (p.His124Arg)	DFFB (H124R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209014	NM_004402.4(DFFB):c.392C>T (p.Ala131Val)	DFFB (A131V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611010	NM_004402.4(DFFB):c.506G>A (p.Arg169Lys)	DFFB (R120K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271672	NM_004402.4(DFFB):c.523C>A (p.Pro175Thr)	DFFB (P126T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381697	NM_004402.4(DFFB):c.529A>G (p.Thr177Ala)	DFFB (T128A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271675	NM_004402.4(DFFB):c.547C>G (p.Gln183Glu)	DFFB (Q183E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382413	NM_004402.4(DFFB):c.631G>A (p.Ala211Thr)	DFFB (A235T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081812	NM_004402.4(DFFB):c.695T>G (p.Met232Arg)	DFFB (M256R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527552	NM_004402.4(DFFB):c.696G>T (p.Met232Ile)	DFFB (M256I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081813	NM_004402.4(DFFB):c.920A>G (p.His307Arg)	DFFB (H258R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517111	NM_004402.4(DFFB):c.932C>T (p.Thr311Ile)	DFFB (T262I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2208600	NM_004402.4(DFFB):c.962T>C (p.Ile321Thr)	DFFB (I272T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 20