10395[geneid] - ClinVar - NCBI

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	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 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC130000015, LOC130000016 +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	DEFA1B, DEFA3 +3658 more	Copy number gain	See cases	GPathogenic
Select item 152917	GRCh38/hg38 8p23.3-22(chr8:226452-16280146)x3	AGPAT5, ANGPT2 +448 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC129999850, LOC129999851 +1038 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	ADAM28, ADAM7 +1103 more	Copy number gain	See cases	GPathogenic
Select item 146718	GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3	LOC126860290, LOC126860291 +687 more	Copy number gain	See cases	GPathogenic
Select item 59739	GRCh38/hg38 8p23.3-22(chr8:241530-17678697)x3	AGPAT5, ANGPT2 +471 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	LOC110121192, LOC110121196 +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	AARD, ABRA +3652 more	Copy number gain	See cases	GPathogenic
Select item 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC129999981, LOC129999982 +996 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	LOC130000067, LOC130000068 +3656 more	Copy number gain	See cases	GPathogenic
Select item 146786	GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3	ADAM28, ADAM7 +736 more	Copy number gain	See cases	GPathogenic
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	DMTN, DOK2 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	MTUS1-DT, NAT1 +773 more	Copy number loss	See cases	GPathogenic
Select item 32400	GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1	LOC126860289, LOC126860290 +773 more	Copy number loss	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	LOC129999803, LOC129999804 +1018 more	Copy number gain	See cases	GPathogenic
Select item 150733	GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	LOC129999922, LOC129999923 +694 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	LOC130000263, LOC130000264 +935 more	Copy number gain	See cases	GPathogenic
Select item 149191	GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3	ADAM28, ADAM7 +499 more	Copy number gain	See cases	GPathogenic
Select item 154449	GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1	LOC113788274, LOC114827823 +510 more	Copy number loss	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	ADAM18, ADAM2 +932 more	Copy number gain	See cases	GPathogenic
Select item 57442	GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3	LOC132089594, LOC132089595 +663 more	Copy number gain	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	ADAM18, ADAM2 +868 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	LOC130000231, LOC130000232 +927 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC126860340, LOC126860341 +927 more	Copy number gain	See cases	GPathogenic
Select item 59763	GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3	LOC130000118, LOC130000119 +703 more	Copy number gain	See cases	GPathogenic
Select item 34276	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC130000005, LOC130000006 +868 more	Copy number gain	See cases	GPathogenic
Select item 149287	GRCh38/hg38 8p23.1-22(chr8:12633363-13767233)x3	C8orf48, DLC1 +24 more	Copy number gain	See cases	GUncertain significance
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	LOC121740715, LOC124049166 +816 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC130000093, LOC130000094 +927 more	Copy number gain	See cases	GPathogenic
Select item 155085	GRCh38/hg38 8p23.1-22(chr8:12698495-13381340)x1	DLC1, LINC00681 +18 more	Copy number loss	See cases	GLikely benign
Select item 148997	GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3	LOC124153130, LOC124153131 +651 more	Copy number gain	See cases	GPathogenic
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 147664	GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3	ADAM28, ADAM7 +567 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +920 more	Copy number gain	See cases	GPathogenic
Select item 148067	GRCh38/hg38 8p23.1-22(chr8:12728904-14368722)x3	C8orf48, DLC1 +39 more	Copy number gain	See cases	GUncertain significance
Select item 147303	GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	LOC130000259, LOC130000260 +805 more	Copy number gain	See cases	GPathogenic
Select item 57410	GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	LOC129999968, LOC129999969 +855 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC130000066, LOC130000067 +920 more	Copy number gain	See cases	GPathogenic
Select item 150985	GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	LOC130000067, LOC130000068 +789 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 145968	GRCh38/hg38 8p23.1-21.3(chr8:12732530-20436882)x3	ASAH1, ASAH1-AS1 +144 more	Copy number gain	See cases	GPathogenic
Select item 59767	GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3	RHOBTB2, SCARA3 +523 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	TNFRSF10A, TNFRSF10A-DT +920 more	Copy number gain	See cases	GPathogenic
Select item 59768	GRCh38/hg38 8p23.1-21.3(chr8:12787272-20952389)x3	ASAH1, ASAH1-AS1 +140 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 3041217	NM_182643.3(DLC1):c.*10C>G	DLC1	Single nucleotide variant (3 prime UTR variant +1 more)	DLC1-related condition	GLikely benign
Select item 2322897	NM_182643.3(DLC1):c.4583G>A (p.Arg1528Lys)	DLC1 (R1091K +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 373548	NM_182643.3(DLC1):c.4582A>T (p.Arg1528Trp)	DLC1 (R1528W +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2483710	NM_182643.3(DLC1):c.4580C>T (p.Ser1527Phe)	DLC1 (S1016F +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3057869	NM_182643.3(DLC1):c.4542C>T (p.Ser1514=)	DLC1	Single nucleotide variant (synonymous variant +1 more)	DLC1-related condition	GLikely benign
Select item 2041358	NM_182643.3(DLC1):c.4537G>A (p.Asp1513Asn)	DLC1 (D1002N +9 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2052332	NM_182643.3(DLC1):c.4525G>A (p.Val1509Ile)	DLC1 (V1033I +9 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2249439	NM_182643.3(DLC1):c.4513G>T (p.Ala1505Ser)	DLC1 (A1029S +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2011608	NM_182643.3(DLC1):c.4505A>G (p.His1502Arg)	DLC1 (H1502R +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2529595	NM_182643.3(DLC1):c.4490C>T (p.Thr1497Ile)	DLC1 (T1021I +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2087420	NM_182643.3(DLC1):c.4488C>T (p.Tyr1496=)	DLC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2172546	NM_182643.3(DLC1):c.4466+10G>C	DLC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2704357	NM_182643.3(DLC1):c.4466+9T>C	DLC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2055308	NM_182643.3(DLC1):c.4466+8C>G	DLC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2074937	NM_182643.3(DLC1):c.4466+4T>A	DLC1	Single nucleotide variant (intron variant)	DLC1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2783280	NM_182643.3(DLC1):c.4449G>T (p.Met1483Ile)	DLC1 (M1046I +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2170835	NM_182643.3(DLC1):c.4410T>G (p.Ile1470Met)	DLC1 (I1067M +9 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2065100	NM_182643.3(DLC1):c.4360G>A (p.Ala1454Thr)	DLC1 (A934T +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2180899	NM_182643.3(DLC1):c.4351C>G (p.His1451Asp)	DLC1 (H975D +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2019479	NM_182643.3(DLC1):c.4314C>T (p.Pro1438=)	DLC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2181927	NM_182643.3(DLC1):c.4293A>G (p.Arg1431=)	DLC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1972290	NM_182643.3(DLC1):c.4293-3C>T	DLC1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3046658	NM_182643.3(DLC1):c.4293-10G>C	DLC1	Single nucleotide variant (intron variant)	DLC1-related condition	GLikely benign
Select item 1273365	NM_182643.3(DLC1):c.4292+144C>T	DLC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2050411	NM_182643.3(DLC1):c.4292+7G>A	DLC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1977221	NM_182643.3(DLC1):c.4292+3G>A	DLC1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2172547	NM_182643.3(DLC1):c.4282G>A (p.Val1428Ile)	DLC1 (V1428I +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1380122	NM_182643.3(DLC1):c.4274G>A (p.Arg1425Gln)	DLC1 (R1425Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2195152	NM_182643.3(DLC1):c.4207G>A (p.Glu1403Lys)	DLC1 (E1045K +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2298897	NM_182643.3(DLC1):c.4205T>C (p.Ile1402Thr)	DLC1 (I1044T +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2765826	NM_182643.3(DLC1):c.4188G>T (p.Leu1396=)	DLC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1974465	NM_182643.3(DLC1):c.4160A>T (p.Lys1387Ile)	DLC1 (K1029I +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2187219	NM_182643.3(DLC1):c.4155A>G (p.Leu1385=)	DLC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2107818	NM_182643.3(DLC1):c.4135G>A (p.Glu1379Lys)	DLC1 (E868K +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2283546	NM_182643.3(DLC1):c.4130T>C (p.Val1377Ala)	DLC1 (V1377A +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2633767	NM_182643.3(DLC1):c.4124C>T (p.Pro1375Leu)	DLC1 (P1017L +9 more)	Single nucleotide variant (missense variant +1 more)	DLC1-related condition	GUncertain significance
Select item 2070239	NM_182643.3(DLC1):c.4080C>T (p.Ser1360=)	DLC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 724888	NM_182643.3(DLC1):c.4062G>A (p.Leu1354=)	DLC1, LOC126860305	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2636814	NM_182643.3(DLC1):c.4046C>G (p.Ser1349Trp)	DLC1, LOC126860305 (S1349W +7 more)	Single nucleotide variant (missense variant +1 more)	DLC1-related condition +1 more	GUncertain significance
Select item 2039491	NM_182643.3(DLC1):c.4046C>T (p.Ser1349Leu)	DLC1, LOC126860305 (S838L +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2401839	NM_182643.3(DLC1):c.4025G>C (p.Gly1342Ala)	DLC1, LOC126860305 (G822A +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2758964	NM_182643.3(DLC1):c.4006G>C (p.Val1336Leu)	DLC1, LOC126860305 (V1336L +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2065763	NM_182643.3(DLC1):c.3979G>T (p.Asp1327Tyr)	DLC1, LOC126860305 (D807Y +7 more)	Single nucleotide variant (missense variant)	DLC1-related condition +1 more	GBenign
Select item 2130938	NM_182643.3(DLC1):c.3977A>G (p.Gln1326Arg)	DLC1, LOC126860305 (Q1326R +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2764500	NM_182643.3(DLC1):c.3968A>T (p.His1323Leu)	DLC1, LOC126860305 (H803L +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2403624	NM_182643.3(DLC1):c.3960C>A (p.Asp1320Glu)	DLC1, LOC126860305 (D928E +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2123502	NM_182643.3(DLC1):c.3951C>A (p.Asp1317Glu)	DLC1, LOC126860305 (D797E +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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