"GeneDx"[submitter] AND "DLC1"[gene] - ClinVar

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

Search results

Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 151551	GRCh38/hg38 8p23.1-22(chr8:12732530-13130114)x3	DLC1, LINC00681 +11 more	Copy number gain	See cases	GLikely benign
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 1234529	NM_182643.3(DLC1):c.*234del	DLC1	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 373548	NM_182643.3(DLC1):c.4582A>T (p.Arg1528Trp)	DLC1 (R1528W +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1234582	NM_182643.3(DLC1):c.4466+174G>C	DLC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222600	NM_182643.3(DLC1):c.4466+108G>A	DLC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 422387	NM_182643.3(DLC1):c.4414C>T (p.Pro1472Ser)	DLC1 (P1472S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1273365	NM_182643.3(DLC1):c.4292+144C>T	DLC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 422632	NM_182643.3(DLC1):c.4151G>A (p.Arg1384His)	DLC1 (R1384H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1275883	NM_182643.3(DLC1):c.4075-79T>C	DLC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279655	NM_182643.3(DLC1):c.4074+55del	DLC1, LOC126860305	Deletion (intron variant)	not provided	GBenign
Select item 1178749	NM_182643.3(DLC1):c.3856-126G>T	DLC1, LOC126860305	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243092	NM_182643.3(DLC1):c.3856-157A>C	DLC1, LOC126860305	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294629	NM_182643.3(DLC1):c.3855+214C>T	DLC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247846	NM_182643.3(DLC1):c.3741-68T>G	DLC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225505	NM_182643.3(DLC1):c.3740+31_3740+32del	DLC1	Deletion (intron variant)	not provided	GBenign
Select item 1220844	NM_182643.3(DLC1):c.3740+11C>T	DLC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 430555	NM_182643.3(DLC1):c.3715C>G (p.Leu1239Val)	DLC1 (L1239V +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1282045	NM_182643.3(DLC1):c.3546C>A (p.Arg1182=)	DLC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1283606	NM_182643.3(DLC1):c.3527-152A>G	DLC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230434	NM_182643.3(DLC1):c.3526+152T>C	DLC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235351	NM_182643.3(DLC1):c.3526+93del	DLC1	Deletion (intron variant)	not provided	GBenign
Select item 1177994	NM_182643.3(DLC1):c.3526+38G>A	DLC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179905	NM_182643.3(DLC1):c.3501G>A (p.Ser1167=)	DLC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1245029	NM_182643.3(DLC1):c.2990+158A>T	DLC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 422271	NM_182643.3(DLC1):c.2836T>C (p.Ser946Pro)	DLC1 (S946P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 430439	NM_182643.3(DLC1):c.2753G>C (p.Arg918Pro)	DLC1 (R918P +3 more)	Single nucleotide variant (missense variant)	Colorectal cancer +1 more	GUncertain significance
Select item 1280889	NM_182643.3(DLC1):c.1821G>T (p.Ala607=)	DLC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1236939	NM_182643.3(DLC1):c.1701A>C (p.Pro567=)	DLC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1271059	NM_182643.3(DLC1):c.1567-153dup	DLC1	Duplication (intron variant)	not provided	GBenign
Select item 1235402	NM_182643.3(DLC1):c.1567-136_1567-135del	DLC1	Deletion (intron variant)	not provided	GBenign
Select item 1228850	NM_182643.3(DLC1):c.1567-135del	DLC1	Duplication (intron variant)	not provided	GBenign
Select item 1261186	NM_182643.3(DLC1):c.1567-155T>C	DLC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237000	NM_182643.3(DLC1):c.1566+18A>G	DLC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 421909	NM_182643.3(DLC1):c.1529C>T (p.Ala510Val)	DLC1 (A510V +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1248540	NM_182643.3(DLC1):c.1420+149G>C	DLC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180111	NM_182643.3(DLC1):c.1420+115dup	DLC1	Duplication (intron variant)	not provided	GBenign
Select item 1238285	NM_182643.3(DLC1):c.1420+114T>A	DLC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278324	NM_182643.3(DLC1):c.1420+17A>G	DLC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278615	NM_182643.3(DLC1):c.1349-35A>G	DLC1	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 1294997	NM_182643.3(DLC1):c.1349-112T>G	DLC1	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 1224640	NM_182643.3(DLC1):c.1349-113A>T	DLC1	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 1294654	NM_182643.3(DLC1):c.1349-17104G>C	DLC1	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 1270187	NM_182643.3(DLC1):c.1349-17188G>A	DLC1	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 1234906	NM_182643.3(DLC1):c.1349-17256T>C	DLC1	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 1221314	NM_182643.3(DLC1):c.1349-17352A>T	DLC1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1274445	NM_182643.3(DLC1):c.1349-17400G>T	DLC1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1282428	NM_182643.3(DLC1):c.1349-17493C>T	DLC1	Single nucleotide variant (genic upstream transcript variant +2 more)	not provided	GBenign
Select item 1287321	NM_182643.3(DLC1):c.1349-17568G>T	DLC1, LOC129999924	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1234194	NM_182643.3(DLC1):c.1349-17648G>C	DLC1, LOC129999924	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 1247809	NM_182643.3(DLC1):c.1349-17652T>C	DLC1, LOC129999924	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 1239046	NM_182643.3(DLC1):c.1349-17773A>T	DLC1	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 1262995	NM_182643.3(DLC1):c.1349-17774G>A	DLC1	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 1269266	NM_182643.3(DLC1):c.1349-17782G>C	DLC1	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 1282681	NM_182643.3(DLC1):c.1349-17867G>A	DLC1	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 151552	GRCh38/hg38 8p22(chr8:13234021-13254671)x1	DLC1	Copy number loss	See cases	GLikely benign
Select item 1290040	NM_182643.3(DLC1):c.1348+237G>A	DLC1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1280789	NM_182643.3(DLC1):c.1315-71G>A	DLC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244719	NM_182643.3(DLC1):c.1315-135T>C	DLC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226707	NM_182643.3(DLC1):c.1174-33G>A	DLC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225715	NM_182643.3(DLC1):c.1174-195C>T	DLC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294601	NM_182643.3(DLC1):c.1174-220T>C	DLC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286595	NM_182643.3(DLC1):c.1173+221T>A	DLC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294787	NM_182643.3(DLC1):c.1173+52C>G	DLC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258043	NM_182643.3(DLC1):c.1173+43A>T	DLC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 58403	GRCh38/hg38 8p22(chr8:13421415-14228782)x3	C8orf48, DLC1 +23 more	Copy number gain	See cases	GUncertain significance
Select item 1235151	NM_182643.3(DLC1):c.1023+134C>A	DLC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229649	NM_182643.3(DLC1):c.1023+73G>C	DLC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222723	NM_182643.3(DLC1):c.960A>C (p.Gln320His)	DLC1 (Q320H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 432679	NM_182643.3(DLC1):c.857A>G (p.Asn286Ser)	DLC1 (N286S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1246243	NM_182643.3(DLC1):c.779C>T (p.Thr260Ile)	DLC1 (T260I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1280137	NM_182643.3(DLC1):c.774G>A (p.Leu258=)	DLC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1175502	NM_182643.3(DLC1):c.763A>G (p.Asn255Asp)	DLC1 (N255D)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1222558	NM_182643.3(DLC1):c.762A>C (p.Gln254His)	DLC1 (Q254H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1267459	NM_182643.3(DLC1):c.-7C>T	DLC1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1276676	NM_182643.3(DLC1):c.-47C>T	DLC1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 253407	GRCh37/hg19 8p23.3-22(chr8:158991-13304906)x3	DEFB135, DEFB136 +73 more	Copy number gain	See cases	GPathogenic
Select item 253392	GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3	ADAM28, ADAM7 +82 more	Copy number gain	See cases	GPathogenic

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: 80