9008[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	LOC112340388, LOC112441449 +821 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	LOC130058535, LOC130058536 +916 more	Copy number gain	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	LOC105371046, LOC105371050 +842 more	Copy number gain	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	LOC130058149, LOC130058150 +925 more	Copy number gain	See cases	GPathogenic
Select item 58600	GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3	BAIAP3, BRICD5 +162 more	Copy number gain	See cases	GPathogenic
Select item 146395	GRCh38/hg38 16p13.3(chr16:1850978-2116369)x3	GFER, HS3ST6 +44 more	Copy number gain	See cases	GUncertain significance
Select item 978603	NC_000016.10:g.1851807_2093151del	GFER, HS3ST6 +43 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 1696839	NC_000016.10:g.1903155_2093402del	GFER, HS3ST6 +40 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 1696837	NC_000016.10:g.2047157_2220112del	BRICD5, CASKIN1 +28 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 417366	NC_000016.9:g.(?_2098588)_(2138713_?)dup	PKD1, TSC2	Duplication	Tuberous sclerosis 2	GUncertain significance
Select item 646381	NC_000016.10:g.(?_2048596)_(2119398_?)del	MIR1225, MIR6511B1 +3 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 584071	NC_000016.10:g.(?_2048596)_(2106697_?)del	MIR1225, MIR6511B1 +3 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 584353	NC_000016.10:g.(?_2053322)_(2092208_?)del	MIR1225, PKD1 +2 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 665473	NM_000548.3(TSC2):c.482_*102del	PKD1, TSC2	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 584259	NC_000016.10:g.(?_2055382)_(2119398_?)del	MIR1225, MIR6511B1 +3 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 417367	NC_000016.9:g.(?_2114273)_(2138713_?)dup	PKD1, TSC2	Duplication	Tuberous sclerosis 2	GUncertain significance
Select item 1696838	NC_000016.10:g.2066081_2241220del	BRICD5, CASKIN1 +33 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 495325	NC_000016.10:g.2077605_2284389dup	ABCA3, BRICD5 +44 more	Duplication	Endometrial carcinoma	GUncertain significance
Select item 583474	NC_000016.10:g.(?_2079012)_(2092208_?)del	PKD1-AS1, MIR1225 +2 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 650711	NC_000016.10:g.(?_2081575)_(2104662_?)del	MIR1225, PKD1 +2 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 151642	GRCh38/hg38 16p13.3(chr16:2084201-2092088)x3	MIR1225, PKD1 +2 more	Copy number gain	See cases	GUncertain significance
Select item 536115	NC_000016.10:g.(?_2086173)_(2112493_?)del	MIR1225, MIR6511B1 +3 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 65276	NM_000548.5(TSC2):c.*127T>G	PKD1, TSC2	Single nucleotide variant (3 prime UTR variant)	Tuberous sclerosis syndrome	Gnot provided
Select item 65144	NM_000548.5(TSC2):c.*127T>C	PKD1, TSC2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 65208	NM_000548.5(TSC2):c.*128G>A	PKD1, TSC2	Single nucleotide variant (3 prime UTR variant)	Tuberous sclerosis syndrome	Gnot provided
Select item 65179	NM_000548.5(TSC2):c.*145del	PKD1, TSC2	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 64862	NM_000548.5(TSC2):c.*154dup	PKD1, TSC2	Duplication (3 prime UTR variant)	Tuberous sclerosis syndrome	Gnot provided
Select item 1230996	NM_000548.5(TSC2):c.*256C>T	PKD1, TSC2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1178576	NM_000548.5(TSC2):c.*256CG[1]	PKD1, TSC2	Microsatellite (3 prime UTR variant)	not provided	GLikely benign
Select item 1245044	NM_000548.5(TSC2):c.*258C>T	PKD1, TSC2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1180280	NM_000548.5(TSC2):c.*263GC[7]	PKD1, TSC2	Microsatellite (3 prime UTR variant)	not provided	GLikely benign
Select item 1194539	NM_000548.5(TSC2):c.270_271insAC	PKD1, TSC2	Insertion (3 prime UTR variant)	not provided	GLikely benign
Select item 1279025	NM_000548.5(TSC2):c.272_273insGCACACAC	PKD1, TSC2	Insertion (3 prime UTR variant)	not provided	GBenign
Select item 1229544	NM_000548.5(TSC2):c.272_273insGCACAC	PKD1, TSC2	Insertion (3 prime UTR variant)	not provided	GBenign
Select item 1217705	NM_000548.5(TSC2):c.*272CA[10]	PKD1, TSC2	Microsatellite (3 prime UTR variant)	not provided	GLikely benign
Select item 1271867	NM_000548.5(TSC2):c.*272CA[7]	PKD1, TSC2	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 1218888	NM_000548.5(TSC2):c.*272CA[8]	PKD1, TSC2	Microsatellite (3 prime UTR variant)	not provided	GLikely benign
Select item 1049696	NM_000548.5(TSC2):c.*272CA[6]	PKD1, TSC2	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 1216114	NM_000548.5(TSC2):c.*275A>G	PKD1, TSC2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1242684	NM_000548.5(TSC2):c.*278del	PKD1, TSC2	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1272212	NM_000548.5(TSC2):c.280_282del	PKD1, TSC2	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1219448	NM_000548.5(TSC2):c.*280del	PKD1, TSC2	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 1218692	NM_000548.5(TSC2):c.*282del	PKD1, TSC2	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 58227	GRCh38/hg38 16p13.3(chr16:2089462-2092132)x1	MIR1225, PKD1 +2 more	Copy number loss	See cases	GLikely pathogenic
Select item 58246	GRCh38/hg38 16p13.3(chr16:2089647-2096105)x1	MIR1225, PKD1 +1 more	Copy number loss	See cases	GLikely pathogenic
Select item 256884	NM_001009944.3(PKD1):c.*15G>A	PKD1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant polycystic kidney disease +2 more	GBenign/Likely benign
Select item 3047625	NM_001009944.3(PKD1):c.*10C>G	PKD1	Single nucleotide variant (3 prime UTR variant)	PKD1-related disorder	GLikely benign
Select item 3054230	NM_001009944.3(PKD1):c.*8T>G	PKD1	Single nucleotide variant (3 prime UTR variant)	PKD1-related disorder	GLikely benign
Select item 2317597	NM_001009944.3(PKD1):c.12905G>A (p.Ser4302Asn)	PKD1 (S4302N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2634127	NM_001009944.3(PKD1):c.12899C>T (p.Pro4300Leu)	PKD1 (P4299L +1 more)	Single nucleotide variant (missense variant)	PKD1-related disorder	GUncertain significance
Select item 3213441	NM_001009944.3(PKD1):c.12895C>T (p.His4299Tyr)	PKD1 (H4298Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 586251	NM_001009944.3(PKD1):c.12888C>G (p.Asn4296Lys)	PKD1 (N4295K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1806056	NM_001009944.3(PKD1):c.12878G>A (p.Arg4293Gln)	PKD1 (R4292Q +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 2662111	NM_001009944.3(PKD1):c.12873_12874del (p.Leu4292fs)	PKD1 (L4291fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2407750	NM_001009944.3(PKD1):c.12871C>A (p.Pro4291Thr)	PKD1 (P4291T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282211	NM_001009944.3(PKD1):c.12864C>G (p.Ser4288Arg)	PKD1 (S4288R +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +1 more	GUncertain significance
Select item 2407890	NM_001009944.3(PKD1):c.12862A>G (p.Ser4288Gly)	PKD1 (S4287G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 447967	NM_001009944.3(PKD1):c.12853A>G (p.Thr4285Ala)	PKD1 (T4284A +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2633681	NM_001009944.3(PKD1):c.12844G>T (p.Asp4282Tyr)	PKD1 (D4281Y +1 more)	Single nucleotide variant (missense variant)	PKD1-related disorder	GUncertain significance
Select item 997393	NM_001009944.3(PKD1):c.12843G>A (p.Val4281=)	PKD1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease	GLikely benign
Select item 2672605	NM_001009944.3(PKD1):c.12836G>A (p.Arg4279Gln)	PKD1 (R4278Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 994714	NM_001009944.3(PKD1):c.12835C>A (p.Arg4279=)	PKD1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 447966	NM_001009944.3(PKD1):c.12827G>A (p.Arg4276Gln)	PKD1 (R4275Q +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +2 more	GUncertain significance
Select item 618821	NM_001009944.3(PKD1):c.12826C>T (p.Arg4276Trp)	PKD1 (R4275W +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +2 more	GBenign/Likely benign
Select item 2645974	NM_001009944.3(PKD1):c.12825C>T (p.Ala4275=)	PKD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 997224	NM_001009944.3(PKD1):c.12824C>T (p.Ala4275Val)	PKD1 (A4274V +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease	GUncertain significance
Select item 997166	NM_001009944.3(PKD1):c.12819C>T (p.Arg4273=)	PKD1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease	GLikely benign
Select item 2377542	NM_001009944.3(PKD1):c.12818G>A (p.Arg4273His)	PKD1 (R4273H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 811062	NM_001009944.3(PKD1):c.12816C>T (p.Ser4272=)	PKD1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2319298	NM_001009944.3(PKD1):c.12811C>T (p.Pro4271Ser)	PKD1 (P4270S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 447965	NM_001009944.3(PKD1):c.12803C>T (p.Pro4268Leu)	PKD1 (P4267L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3213439	NM_001009944.3(PKD1):c.12800G>A (p.Arg4267Gln)	PKD1 (R4266Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3213438	NM_001009944.3(PKD1):c.12799C>T (p.Arg4267Trp)	PKD1 (R4267W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 997333	NM_001009944.3(PKD1):c.12781G>A (p.Gly4261Ser)	PKD1 (G4260S +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease	GUncertain significance
Select item 2293664	NM_001009944.3(PKD1):c.12778C>A (p.Arg4260Ser)	PKD1 (R4259S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 871744	NM_001009944.3(PKD1):c.12778C>T (p.Arg4260Cys)	PKD1 (R4259C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 447964	NM_001009944.3(PKD1):c.12769G>A (p.Gly4257Arg)	PKD1 (G4256R +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +3 more	GBenign/Likely benign
Select item 256922	NM_001009944.3(PKD1):c.12768C>T (p.Ala4256=)	PKD1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1702950	NM_001009944.3(PKD1):c.12766G>A (p.Ala4256Thr)	PKD1 (A4255T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 434011	NM_001009944.3(PKD1):c.12765C>T (p.Pro4255=)	PKD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2499301	NM_001009944.3(PKD1):c.12758G>A (p.Arg4253Gln)	PKD1 (R4252Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2259829	NM_001009944.3(PKD1):c.12748A>T (p.Arg4250Trp)	PKD1 (R4249W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3061238	NM_001009944.3(PKD1):c.12739C>T (p.Gln4247Ter)	PKD1 (Q4246* +1 more)	Single nucleotide variant (nonsense)	PKD1-related disorder	GPathogenic
Select item 1255656	NM_001009944.3(PKD1):c.12725_12735dup (p.Leu4246fs)	PKD1 (L4245fs +1 more)	Duplication (frameshift variant)	Autosomal dominant polycystic kidney disease	GPathogenic
Select item 2253819	NM_001009944.3(PKD1):c.12730C>T (p.His4244Tyr)	PKD1 (H4244Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 618309	NM_001009944.3(PKD1):c.12724C>T (p.Gln4242Ter)	PKD1 (Q4241* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GLikely pathogenic
Select item 993934	NM_001009944.3(PKD1):c.12721C>T (p.Gln4241Ter)	PKD1 (Q4240* +1 more)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic/Likely pathogenic
Select item 2578167	NM_001009944.3(PKD1):c.12720G>C (p.Glu4240Asp)	PKD1 (E4239D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 562309	NM_001009944.3(PKD1):c.12718G>T (p.Glu4240Ter)	PKD1 (E4240* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3055707	NM_001009944.3(PKD1):c.12714G>A (p.Gln4238=)	PKD1	Single nucleotide variant (synonymous variant)	PKD1-related disorder	GLikely benign
Select item 434010	NM_001009944.3(PKD1):c.12712C>T (p.Gln4238Ter)	PKD1 (Q4238* +1 more)	Single nucleotide variant (nonsense)	PKD1-related disorder +2 more	GPathogenic
Select item 994713	NM_001009944.3(PKD1):c.12711C>G (p.Tyr4237Ter)	PKD1 (Y4236* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 994712	NM_001009944.3(PKD1):c.12709T>C (p.Tyr4237His)	PKD1 (Y4236H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3047803	NM_001009944.3(PKD1):c.12705C>T (p.Asp4235=)	PKD1	Single nucleotide variant (synonymous variant)	PKD1-related disorder	GLikely benign
Select item 636785	NM_001009944.3(PKD1):c.12701_12702del (p.Glu4234fs)	PKD1 (E4234fs +1 more)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 2645975	NM_001009944.3(PKD1):c.12699A>G (p.Thr4233=)	PKD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 586250	NM_001009944.3(PKD1):c.12697A>C (p.Thr4233Pro)	PKD1 (T4232P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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