17185[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	TRC-GCA9-3, TRC-GCA9-4 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	ABCB8, ABCF2 +737 more	Copy number loss	See cases	GPathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	LOC129999721, LOC129999722 +707 more	Copy number loss	See cases	GPathogenic
Select item 60302	GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1	LOC129999681, LOC129999682 +573 more	Copy number loss	See cases	GPathogenic
Select item 57118	GRCh38/hg38 7q35-36.1(chr7:143884559-152674271)x1	ABCB8, ABCF2 +358 more	Copy number loss	See cases	GPathogenic
Select item 148943	GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1	ABCB8, ABCF2 +540 more	Copy number loss	See cases	GPathogenic
Select item 148263	GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1	LOC129999684, LOC129999685 +538 more	Copy number loss	See cases	GLikely pathogenic
Select item 60312	GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1	LOC129999655, LOC129999656 +533 more	Copy number loss	See cases	GPathogenic
Select item 148715	GRCh38/hg38 7q35-36.3(chr7:146047157-157522158)x1	ABCB8, ABCF2 +473 more	Copy number loss	See cases	GPathogenic
Select item 155436	GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1	UBE3C, VIPR2 +526 more	Copy number loss	See cases	GPathogenic
Select item 57408	GRCh38/hg38 7q35-36.3(chr7:147250465-159325876)x1	ABCB8, ABCF2 +526 more	Copy number loss	See cases	GPathogenic
Select item 146558	GRCh38/hg38 7q35-36.2(chr7:147345844-153833351)x3	ABCB8, ABCF2 +329 more	Copy number gain	See cases	GPathogenic
Select item 60313	GRCh38/hg38 7q36.1(chr7:148256584-152332535)x1	ABCB8, ABCF2 +293 more	Copy number loss	See cases	GPathogenic
Select item 149569	GRCh38/hg38 7q36.1-36.2(chr7:150113232-154162779)x3	ABCB8, ABCF2 +212 more	Copy number gain	See cases	GLikely pathogenic
Select item 154525	GRCh38/hg38 7q36.1-36.3(chr7:150260297-159325876)x1	ABCB8, ABCF2 +407 more	Copy number loss	See cases	GPathogenic
Select item 150864	GRCh38/hg38 7q36.1-36.2(chr7:150275734-153342804)x3	ABCB8, ABCF2 +205 more	Copy number gain	See cases	GUncertain significance
Select item 57001	GRCh38/hg38 7q36.1(chr7:150319864-152674271)x1	ABCB8, ABCF2 +191 more	Copy number loss	See cases	GPathogenic
Select item 146852	GRCh38/hg38 7q36.1-36.3(chr7:150486071-159335865)x1	ABCB8, ABCF2 +375 more	Copy number loss	See cases	GPathogenic
Select item 148391	GRCh38/hg38 7q36.1-36.3(chr7:150802801-159335866)x1	ABCB8, ABCF2 +351 more	Copy number loss	See cases	GPathogenic
Select item 147505	GRCh38/hg38 7q36.1-36.3(chr7:151104277-159325876)x3	ABCF2, ABCF2-H2BK1 +315 more	Copy number gain	See cases	GPathogenic
Select item 1221472	NM_001142459.2(ASB10):c.*8T>C	ASB10	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1297556	NM_001142459.2(ASB10):c.1386T>G (p.Phe462Leu)	ASB10 (F424L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1233189	NM_001142459.2(ASB10):c.1357C>T (p.Arg453Cys)	ASB10 (R415C +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3130078	NM_001142459.2(ASB10):c.1352C>T (p.Pro451Leu)	ASB10 (P413L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1945680	NM_001142459.2(ASB10):c.1319G>T (p.Ser440Ile)	ASB10 (S402I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 99952	NM_001142459.2(ASB10):c.1318A>G (p.Ser440Gly)	ASB10 (S425G +2 more)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, F	Gnot provided
Select item 1661042	NM_001142459.2(ASB10):c.1306C>A (p.His436Asn)	ASB10 (H398N +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2193163	NM_001142459.2(ASB10):c.1300C>T (p.Arg434Cys)	ASB10 (R396C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 99951	NM_001142459.2(ASB10):c.1272G>A (p.Ser424=)	ASB10	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2614790	NM_001142459.2(ASB10):c.1265C>A (p.Pro422His)	ASB10 (P384H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1905788	NM_001142459.2(ASB10):c.1265C>G (p.Pro422Arg)	ASB10 (P407R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1357422	NM_001142459.2(ASB10):c.1246T>C (p.Phe416Leu)	ASB10 (F401L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1317501	NM_001142459.2(ASB10):c.1218+84G>A	ASB10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1244215	NM_001142459.2(ASB10):c.1218+42T>C	ASB10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317556	NM_001142459.2(ASB10):c.1218+26G>C	ASB10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234767	NM_001142459.2(ASB10):c.1204C>A (p.Pro402Thr)	ASB10 (P387T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3039317	NM_001142459.2(ASB10):c.1197G>T (p.Leu399=)	ASB10	Single nucleotide variant (synonymous variant +1 more)	ASB10-related disorder	GLikely benign
Select item 3130076	NM_001142459.2(ASB10):c.1189G>A (p.Val397Ile)	ASB10 (V397I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354499	NM_001142459.2(ASB10):c.1168G>A (p.Val390Met)	ASB10 (V390M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3020811	NM_001142459.2(ASB10):c.1165_1166del (p.Val389fs)	ASB10 (V389fs +1 more)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2760142	NM_001142459.2(ASB10):c.1155C>T (p.Asn385=)	ASB10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3130075	NM_001142459.2(ASB10):c.1140C>G (p.Ile380Met)	ASB10 (I365M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293021	NM_001142459.2(ASB10):c.1138A>T (p.Ile380Phe)	ASB10 (I365F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 728668	NM_001142459.2(ASB10):c.1132C>T (p.Arg378Trp)	ASB10 (R378W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 677160	NM_001142459.2(ASB10):c.1114C>T (p.Arg372Cys)	ASB10 (R372C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1264027	NM_001142459.2(ASB10):c.1104+252T>C	ASB10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296559	NM_001142459.2(ASB10):c.1104+220A>G	ASB10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260788	NM_001142459.2(ASB10):c.1104+144C>T	ASB10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 99948	NM_001142459.2(ASB10):c.1096C>T (p.Leu366Phe)	ASB10 (L351F +1 more)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, F	Gnot provided
Select item 99980	NM_001142459.2(ASB10):c.1092G>T (p.Gly364=)	ASB10	Single nucleotide variant (synonymous variant)	Glaucoma 1, open angle, F	Gnot provided
Select item 2411549	NM_001142459.2(ASB10):c.1091G>T (p.Gly364Val)	ASB10 (G349V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 99979	NM_001142459.2(ASB10):c.1079G>A (p.Arg360His)	ASB10 (R345H +1 more)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, F	Gnot provided
Select item 99947	NM_001142459.2(ASB10):c.1078C>T (p.Arg360Cys)	ASB10 (R345C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1228005	NM_001142459.2(ASB10):c.1075G>A (p.Val359Ile)	ASB10 (V344I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2378789	NM_001142459.2(ASB10):c.1072G>A (p.Ala358Thr)	ASB10 (A343T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 99978	NM_001142459.2(ASB10):c.1066C>T (p.His356Tyr)	ASB10 (H341Y +1 more)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, F	Gnot provided
Select item 99946	NM_001142459.2(ASB10):c.1046T>C (p.Val349Ala)	ASB10 (V334A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1360949	NM_001142459.2(ASB10):c.1036C>T (p.Pro346Ser)	ASB10 (P346S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2958862	NM_001142459.2(ASB10):c.1029C>T (p.Ala343=)	ASB10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 99990	NM_001142459.2(ASB10):c.1024C>T (p.Leu342=)	ASB10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2555043	NM_001142459.2(ASB10):c.1008G>C (p.Gln336His)	ASB10 (Q336H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 99969	NM_001142459.2(ASB10):c.996C>G (p.His332Gln)	ASB10 (H317Q +1 more)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, F	Gnot provided
Select item 99967	NM_001142459.2(ASB10):c.986C>T (p.Thr329Met)	ASB10 (T314M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 99989	NM_001142459.2(ASB10):c.958G>A (p.Ala320Thr)	ASB10 (A305T +1 more)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, F	Gnot provided
Select item 2378023	NM_001142459.2(ASB10):c.928G>A (p.Val310Met)	ASB10 (V310M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057865	NM_001142459.2(ASB10):c.927C>T (p.Val309=)	ASB10	Single nucleotide variant (synonymous variant)	ASB10-related disorder	GLikely benign
Select item 2595795	NM_001142459.2(ASB10):c.911G>A (p.Arg304His)	ASB10 (R304H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 99966	NM_001142459.2(ASB10):c.910C>T (p.Arg304Cys)	ASB10 (R289C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 99965	NM_001142459.2(ASB10):c.908G>A (p.Arg303His)	ASB10 (R288H +1 more)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, F	Gnot provided
Select item 2247428	NM_001142459.2(ASB10):c.907C>T (p.Arg303Cys)	ASB10 (R288C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722946	NM_001142459.2(ASB10):c.886C>T (p.Arg296Ter)	ASB10 (R296* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 99988	NM_001142459.2(ASB10):c.884A>T (p.Gln295Leu)	ASB10 (Q280L +1 more)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, F	Gnot provided
Select item 1447085	NM_001142459.2(ASB10):c.872A>G (p.Asp291Gly)	ASB10 (D276G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 667623	NM_001142459.2(ASB10):c.870G>C (p.Ala290=)	ASB10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3130087	NM_001142459.2(ASB10):c.869C>T (p.Ala290Val)	ASB10 (A275V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334199	NM_001142459.2(ASB10):c.859G>A (p.Ala287Thr)	ASB10 (A287T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534156	NM_001142459.2(ASB10):c.856G>A (p.Asp286Asn)	ASB10 (D271N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130086	NM_001142459.2(ASB10):c.826C>A (p.Leu276Met)	ASB10 (L276M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 99987	NM_001142459.2(ASB10):c.815G>A (p.Arg272His)	ASB10 (R257H +1 more)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, F	Gnot provided
Select item 50951	NM_001142459.2(ASB10):c.810C>T (p.Thr270=)	ASB10	Single nucleotide variant (synonymous variant)	Glaucoma 1, open angle, F	GPathogenic
Select item 677216	NM_001142459.2(ASB10):c.798C>T (p.Ala266=)	ASB10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2168421	NM_001142459.2(ASB10):c.738C>T (p.Ala246=)	ASB10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 99964	NM_001142459.2(ASB10):c.737C>A (p.Ala246Asp)	ASB10 (A231D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 99963	NM_001142459.2(ASB10):c.731G>A (p.Arg244His)	ASB10 (R229H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 99986	NM_001142459.2(ASB10):c.714G>A (p.Gly238=)	ASB10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 783008	NM_001142459.2(ASB10):c.709C>G (p.Arg237Gly)	ASB10 (R222G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign

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