DIS3L[gene] - ClinVar

Search results

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 2613069	NM_001143688.3(DIS3L):c.5T>G (p.Leu2Arg)	DIS3L, LOC130057336 (L2R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2386812	NM_001143688.3(DIS3L):c.8A>C (p.Gln3Pro)	DIS3L, LOC130057336 (Q3P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2489699	NM_001143688.3(DIS3L):c.16G>C (p.Glu6Gln)	DIS3L, LOC130057336 (E6Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2367133	NM_001143688.3(DIS3L):c.67C>T (p.Arg23Cys)	DIS3L, LOC130057336 (R23C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2595091	NM_001143688.3(DIS3L):c.74A>G (p.His25Arg)	DIS3L, LOC130057336 (H25R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2612864	NM_001143688.3(DIS3L):c.146A>G (p.Lys49Arg)	DIS3L (K49R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591360	NM_001143688.3(DIS3L):c.148C>G (p.Leu50Val)	DIS3L (L33V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082562	NM_001143688.3(DIS3L):c.266A>G (p.Gln89Arg)	DIS3L (Q89R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380391	NM_001143688.3(DIS3L):c.311G>A (p.Arg104Gln)	DIS3L (R87Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2466262	NM_001143688.3(DIS3L):c.416A>C (p.Gln139Pro)	DIS3L (Q122P +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3082567	NM_001143688.3(DIS3L):c.428T>G (p.Ile143Arg)	DIS3L (I143R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328961	NM_001143688.3(DIS3L):c.533A>G (p.Glu178Gly)	DIS3L (E44G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279015	NM_001143688.3(DIS3L):c.599A>T (p.His200Leu)	DIS3L (H200L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328894	NM_001143688.3(DIS3L):c.685C>G (p.Leu229Val)	DIS3L (L229V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301074	NM_001143688.3(DIS3L):c.725G>T (p.Arg242Leu)	DIS3L (R116L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527787	NM_001143688.3(DIS3L):c.749T>A (p.Val250Asp)	DIS3L (V233D +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082568	NM_001143688.3(DIS3L):c.840C>A (p.His280Gln)	DIS3L (H154Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3272146	NM_001143688.3(DIS3L):c.925G>A (p.Val309Ile)	DIS3L (V292I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517352	NM_001143688.3(DIS3L):c.952G>A (p.Asp318Asn)	DIS3L (D184N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082569	NM_001143688.3(DIS3L):c.997C>G (p.Arg333Gly)	DIS3L (R333G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556307	NM_001143688.3(DIS3L):c.1000G>T (p.Val334Leu)	DIS3L (V200L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3272148	NM_001143688.3(DIS3L):c.1028G>A (p.Arg343Gln)	DIS3L (R217Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381942	NM_001143688.3(DIS3L):c.1062G>C (p.Glu354Asp)	DIS3L (E220D +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336158	NM_001143688.3(DIS3L):c.1099G>A (p.Val367Ile)	DIS3L (V233I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465833	NM_001143688.3(DIS3L):c.1115A>G (p.Tyr372Cys)	DIS3L (Y238C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291423	NM_001143688.3(DIS3L):c.1133G>A (p.Arg378Gln)	DIS3L (R244Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291873	NM_001143688.3(DIS3L):c.1165G>A (p.Asp389Asn)	DIS3L (D255N +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298404	NM_001143688.3(DIS3L):c.1173G>C (p.Arg391Ser)	DIS3L (R257S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316372	NM_001143688.3(DIS3L):c.1183C>T (p.Arg395Cys)	DIS3L (R25C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511637	NM_001143688.3(DIS3L):c.1187T>G (p.Ile396Ser)	DIS3L (I26S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328753	NM_001143688.3(DIS3L):c.1192T>G (p.Ser398Ala)	DIS3L (S28A +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551652	NM_001143688.3(DIS3L):c.1234C>T (p.Arg412Cys)	DIS3L (R278C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272147	NM_001143688.3(DIS3L):c.1250T>C (p.Ile417Thr)	DIS3L (I291T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272150	NM_001143688.3(DIS3L):c.1252G>A (p.Gly418Arg)	DIS3L (G292R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279931	NM_001143688.3(DIS3L):c.1265G>A (p.Gly422Glu)	DIS3L (G362E +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082555	NM_001143688.3(DIS3L):c.1338G>A (p.Met446Ile)	DIS3L (M320I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375702	NM_001143688.3(DIS3L):c.1345A>C (p.Asn449His)	DIS3L (N79H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367226	NM_001143688.3(DIS3L):c.1345A>G (p.Asn449Asp)	DIS3L (N315D +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408014	NM_001143688.3(DIS3L):c.1393C>T (p.Arg465Cys)	DIS3L (R339C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518685	NM_001143688.3(DIS3L):c.1394G>T (p.Arg465Leu)	DIS3L (R405L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524161	NM_001143688.3(DIS3L):c.1449A>C (p.Glu483Asp)	DIS3L (E113D +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082556	NM_001143688.3(DIS3L):c.1480T>G (p.Leu494Val)	DIS3L (L124V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302303	NM_001143688.3(DIS3L):c.1493A>C (p.Asn498Thr)	DIS3L (N372T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536874	NM_001143688.3(DIS3L):c.1513A>G (p.Ile505Val)	DIS3L (I379V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248640	NM_001143688.3(DIS3L):c.1601G>A (p.Arg534His)	DIS3L (R164H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082557	NM_001143688.3(DIS3L):c.1603C>T (p.Arg535Cys)	DIS3L (R518C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328905	NM_001143688.3(DIS3L):c.1604G>A (p.Arg535His)	DIS3L (R452H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250205	NM_001143688.3(DIS3L):c.1612A>C (p.Met538Leu)	DIS3L (M168L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260988	NM_001143688.3(DIS3L):c.1660G>A (p.Val554Ile)	DIS3L (V184I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265988	NM_001143688.3(DIS3L):c.1768T>C (p.Tyr590His)	DIS3L (Y507H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272151	NM_001143688.3(DIS3L):c.1844A>C (p.Glu615Ala)	DIS3L (E489A +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082558	NM_001143688.3(DIS3L):c.1851C>G (p.Ser617Arg)	DIS3L (S247R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272149	NM_001143688.3(DIS3L):c.1900G>A (p.Asp634Asn)	DIS3L (D500N +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289490	NM_001143688.3(DIS3L):c.1903A>G (p.Ile635Val)	DIS3L (I265V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358797	NM_001143688.3(DIS3L):c.1970G>A (p.Cys657Tyr)	DIS3L (C531Y +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329000	NM_001143688.3(DIS3L):c.2165A>C (p.Glu722Ala)	DIS3L (E588A +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245549	NM_001143688.3(DIS3L):c.2194G>C (p.Asp732His)	DIS3L (D362H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082559	NM_001143688.3(DIS3L):c.2219C>T (p.Ala740Val)	DIS3L (A614V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024738	NM_001143688.3(DIS3L):c.2276G>A (p.Arg759His)	DIS3L (R699H +6 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2292053	NM_001143688.3(DIS3L):c.2397A>G (p.Ile799Met)	DIS3L (I429M +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291565	NM_001143688.3(DIS3L):c.2426G>A (p.Arg809His)	DIS3L (R675H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568488	NM_001143688.3(DIS3L):c.2545C>A (p.His849Asn)	DIS3L (H715N +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371442	NM_001143688.3(DIS3L):c.2560T>G (p.Ser854Ala)	DIS3L (S720A +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082560	NM_001143688.3(DIS3L):c.2581A>G (p.Met861Val)	DIS3L (M727V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535686	NM_001143688.3(DIS3L):c.2590A>G (p.Lys864Glu)	DIS3L (K494E +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229476	NM_001143688.3(DIS3L):c.2612A>T (p.Glu871Val)	DIS3L (E854V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082561	NM_001143688.3(DIS3L):c.2613G>T (p.Glu871Asp)	DIS3L (E871D +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361594	NM_001143688.3(DIS3L):c.2617C>T (p.Arg873Cys)	DIS3L (R503C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520623	NM_001143688.3(DIS3L):c.2623A>G (p.Ile875Val)	DIS3L (I815V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256962	NM_001143688.3(DIS3L):c.2684T>C (p.Phe895Ser)	DIS3L (F769S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339991	NM_001143688.3(DIS3L):c.2719G>A (p.Asp907Asn)	DIS3L (D537N +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308989	NM_001143688.3(DIS3L):c.2748T>A (p.Asp916Glu)	DIS3L (D833E +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347409	NM_001143688.3(DIS3L):c.2831C>T (p.Thr944Met)	DIS3L (T574M +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210568	NM_001143688.3(DIS3L):c.3016G>C (p.Glu1006Gln)	DIS3L (E1006Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082563	NM_001143688.3(DIS3L):c.3076C>T (p.Arg1026Cys)	DIS3L (R900C +6 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2512227	NM_001143688.3(DIS3L):c.3077G>C (p.Arg1026Pro)	DIS3L (R1026P +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082565	NM_001143688.3(DIS3L):c.3086A>G (p.Lys1029Arg)	DIS3L (K659R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161529	NM_001143688.3(DIS3L):c.3089G>A (p.Gly1030Glu)	DIS3L (G1030E +6 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 3082566	NM_001143688.3(DIS3L):c.3137T>C (p.Leu1046Pro)	DIS3L (L1029P +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684761	GRCh37/hg19 15q22.31(chr15:66349832-66790693)x3	DIS3L, MAP2K1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1512687	NC_000015.9:g.(?_66161924)_(69018313_?)dup	AAGAB, C15orf61 +21 more	Duplication	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980528	GRCh37/hg19 15q22.31(chr15:66563992-66625470)x1	DIS3L	Copy number loss	not provided	GUncertain significance
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic

ClinVar

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Items: 91