DEF8[gene] - ClinVar

Search results

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059149, LOC130059150 +1738 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059618, LOC130059619 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	AARS1, ACD +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	HSBP1, HSD17B2 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	LOC126862439, LOC126862440 +1031 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	ACSF3, ADAD2 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC130059708, LOC130059709 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	LINC01081, LINC01082 +781 more	Copy number gain	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	ACSF3, ADAD2 +719 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	ACSF3, ADAD2 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	ACSF3, ADAD2 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	ACSF3, ADAD2 +670 more	Copy number gain	See cases	GPathogenic
Select item 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	LOC130059691, LOC130059692 +566 more	Copy number gain	See cases	GPathogenic
Select item 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
Select item 150862	GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3	ACSF3, ANKRD11 +420 more	Copy number gain	See cases	GPathogenic
Select item 149103	GRCh38/hg38 16q24.2-24.3(chr16:87848216-90096995)x3	ACSF3, ANKRD11 +268 more	Copy number gain	See cases	GLikely pathogenic
Select item 58651	GRCh38/hg38 16q24.2-24.3(chr16:87853401-90081985)x3	ACSF3, ANKRD11 +267 more	Copy number gain	See cases	GPathogenic
Select item 60065	GRCh38/hg38 16q24.3(chr16:89665706-90081985)x3	CDK10, CENPBD1 +68 more	Copy number gain	See cases	GUncertain significance
Select item 58271	GRCh38/hg38 16q24.3(chr16:89730086-90081985)x1	CENPBD1, DBNDD1 +51 more	Copy number loss	See cases	GUncertain significance
Select item 58272	GRCh38/hg38 16q24.3(chr16:89791645-90000807)x1	FANCA, LOC112486223 +30 more	Copy number loss	See cases	GUncertain significance
Select item 34317	GRCh38/hg38 16q24.3(chr16:89830573-90044855)x1	CENPBD1, DBNDD1 +30 more	Copy number loss	See cases	GUncertain significance
Select item 148919	GRCh38/hg38 16q24.3(chr16:89939453-90096995)x1	CENPBD1, DBNDD1 +20 more	Copy number loss	See cases	GUncertain significance
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 755844	NM_001242818.2(DEF8):c.-26C>T	DEF8	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
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 768807	NM_001242818.2(DEF8):c.85C>G (p.Gln29Glu)	DEF8 (Q90E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 773059	NM_001242818.2(DEF8):c.366G>A (p.Glu122=)	DEF8	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 717054	NM_001242818.2(DEF8):c.954G>A (p.Pro318=)	DEF8	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 729694	NM_001242818.2(DEF8):c.1066G>A (p.Val356Met)	DEF8 (V296M +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 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 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
Select item 2422433	NC_000016.9:g.(?_89611036)_(90106937_?)dup	SPIRE2, TCF25 +18 more	Duplication	Fanconi anemia	GUncertain significance
Select item 2422362	NC_000016.9:g.(?_87636753)_(90109753_?)dup	FANCA, MC1R +45 more	Duplication	Primary ciliary dyskinesia 33 +1 more	GUncertain significance
Select item 1707627	GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	IL17C, ZFHX3 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	SYCE1L, TAF1C +368 more	Copy number gain	not provided	GPathogenic
Select item 1341097	GRCh37/hg19 16q24.2-24.3(chr16:88000389-90155062)x3	ACSF3, ANKRD11 +42 more	Copy number gain	not provided	GUncertain significance
Select item 1340329	GRCh37/hg19 16q24.3(chr16:89337891-90155062)x3	CDK10, ANKRD11 +21 more	Copy number gain	not provided	GUncertain significance
Select item 1328115	GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3	BCO1, ACSF3 +102 more	Copy number gain	not provided	GPathogenic
Select item 980110	GRCh37/hg19 16q24.3(chr16:89499489-90125146)x3	DEF8, FANCA +21 more	Copy number gain	not provided	GUncertain significance
Select item 979491	GRCh37/hg19 16q24.3(chr16:89156662-90023446)x3	ACSF3, DEF8 +20 more	Copy number gain	not provided	GUncertain significance
Select item 979487	GRCh37/hg19 16q24.2-24.3(chr16:88222732-90155062)x3	SLC22A31, SNAI3 +41 more	Copy number gain	not provided	GUncertain significance
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 687183	GRCh37/hg19 16q24.3(chr16:89991078-90155062)x3	CENPBD1, DBNDD1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 625611	GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381)	ACSF3, ADAD2 +83 more	Copy number gain	not provided	GPathogenic
Select item 564372	GRCh37/hg19 16q24.3(chr16:89828398-90155062)x3	GAS8, GAS8-AS1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 564356	GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3	ACSF3, ADAD2 +103 more	Copy number gain	not provided	GPathogenic
Select item 564342	GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3	ACSF3, ADAD2 +136 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	AARS1, ABCC11 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	ADCY7, ADGRG1 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 442884	GRCh37/hg19 16q24.1-24.3(chr16:85838574-90155062)x3	ACSF3, ANKRD11 +59 more	Copy number gain	See cases	GPathogenic
Select item 441696	GRCh37/hg19 16q23.3-24.3(chr16:83001540-90155062)x3	ACSF3, ADAD2 +87 more	Copy number gain	See cases	GLikely pathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	DPEP2, DPEP3 +811 more	Copy number gain	See cases	GPathogenic
Select item 394978	GRCh37/hg19 16q24.3(chr16:90016428-90030233)x3	DEF8	Copy number gain	See cases	GBenign/Likely benign
Select item 393929	GRCh37/hg19 16q24.3(chr16:89880964-90133246)x3	CENPBD1, DBNDD1 +9 more	Copy number gain	See cases	GUncertain significance
Select item 253944	GRCh37/hg19 16q24.3(chr16:89696893-90103214)x3	ZNF276, SPIRE2 +15 more	Copy number gain	See cases	GUncertain significance
Select item 253762	GRCh37/hg19 16q24.3(chr16:89836157-90127980)x1	SPIRE2, TUBB3 +9 more	Copy number loss	See cases	GUncertain significance
Select item 253554	GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3	ACSF3, ADAD2 +127 more	Copy number gain	See cases	GPathogenic
Select item 221527	GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1	ACSF3, ADAD2 +140 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	GALNS, GAN +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	SLC7A6, SLC7A6OS +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 218968	t(5;16)(p15.31;q23.1)	ACSF3, ADAD2 +150 more	Translocation	not provided	GLikely pathogenic

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Items: 94