"Ambry Genetics"[submitter] AND "DEF8"[gene] - ClinVar

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

Search results

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2309641	NM_001242818.2(DEF8):c.-54C>T	DEF8 (A2V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 3081274	NM_001242818.2(DEF8):c.-11+22T>G	DEF8 (L24V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348426	NM_001242818.2(DEF8):c.-11+51G>C	DEF8 (Q33H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310128	NM_001242818.2(DEF8):c.-11+101C>T	DEF8 (A50V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403849	NM_001242818.2(DEF8):c.-11+113C>A	DEF8 (T54K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396590	NM_001242818.2(DEF8):c.-11+113C>T	DEF8 (T54M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549347	NM_001242818.2(DEF8):c.31C>T (p.Arg11Trp)	DEF8 (R11W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604938	NM_001242818.2(DEF8):c.71C>T (p.Pro24Leu)	DEF8 (P24L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271439	NM_001242818.2(DEF8):c.107C>T (p.Pro36Leu)	DEF8 (P97L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2267755	NM_001242818.2(DEF8):c.112G>A (p.Val38Ile)	DEF8 (V99I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2324123	NM_001242818.2(DEF8):c.116C>A (p.Thr39Asn)	DEF8 (T100N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219359	NM_001242818.2(DEF8):c.118C>T (p.Pro40Ser)	DEF8 (P40S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3081271	NM_001242818.2(DEF8):c.164G>A (p.Arg55His)	DEF8 (R116H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2515671	NM_001242818.2(DEF8):c.175C>T (p.Arg59Cys)	DEF8 (R120C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081272	NM_001242818.2(DEF8):c.190G>A (p.Gly64Ser)	DEF8 (G4S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081273	NM_001242818.2(DEF8):c.301G>A (p.Glu101Lys)	DEF8 (E101K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268238	NM_001242818.2(DEF8):c.343C>T (p.His115Tyr)	DEF8 (H115Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303597	NM_001242818.2(DEF8):c.349C>T (p.Arg117Trp)	DEF8 (R57W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410490	NM_001242818.2(DEF8):c.380A>G (p.Asn127Ser)	DEF8 (N117S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350303	NM_001242818.2(DEF8):c.445G>A (p.Val149Ile)	DEF8 (V89I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271440	NM_001242818.2(DEF8):c.512C>G (p.Thr171Arg)	DEF8 (T161R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551486	NM_001242818.2(DEF8):c.527G>A (p.Arg176His)	DEF8 (R176H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223567	NM_001242818.2(DEF8):c.578A>G (p.Lys193Arg)	DEF8 (K193R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081275	NM_001242818.2(DEF8):c.646C>T (p.Arg216Cys)	DEF8 (R206C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081276	NM_001242818.2(DEF8):c.668C>T (p.Pro223Leu)	DEF8 (P223L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263898	NM_001242818.2(DEF8):c.775G>A (p.Val259Ile)	DEF8 (V259I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230897	NM_001242818.2(DEF8):c.869G>A (p.Arg290Gln)	DEF8 (R290Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488105	NM_001242818.2(DEF8):c.1000C>A (p.Gln334Lys)	DEF8 (Q274K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553577	NM_001242818.2(DEF8):c.1012C>T (p.Arg338Trp)	DEF8 (R338W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320376	NM_001242818.2(DEF8):c.1061T>C (p.Leu354Pro)	DEF8 (L344P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369495	NM_001242818.2(DEF8):c.1078C>T (p.Arg360Cys)	DEF8 (R300C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271438	NM_001242818.2(DEF8):c.1079G>A (p.Arg360His)	DEF8 (R343H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081269	NM_001242818.2(DEF8):c.1148G>A (p.Cys383Tyr)	DEF8 (C373Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271442	NM_001242818.2(DEF8):c.1160G>C (p.Gly387Ala)	DEF8 (G327A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271441	NM_001242818.2(DEF8):c.1162T>A (p.Phe388Ile)	DEF8 (F328I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211179	NM_001242818.2(DEF8):c.1207G>A (p.Asp403Asn)	DEF8 (D343N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217151	NM_001242818.2(DEF8):c.1240G>A (p.Ala414Thr)	DEF8 (A397T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562871	NM_001242818.2(DEF8):c.1319C>T (p.Ser440Leu)	DEF8 (S423L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409103	NM_001242818.2(DEF8):c.1345G>A (p.Val449Met)	DEF8 (V439M +4 more)	Single nucleotide variant (missense variant)	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: 39