INVS[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC126860768, LOC126860769 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC124310660, LOC124310661 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC111413024, LOC111413033 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC116216098, LOC116216099 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LCN15, LCN2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC126860765, LOC126860766 +3785 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	LOC130002043, LOC130002044 +1072 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	LOC126860637, LOC126860638 +1188 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 144971	GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	LOC130002205, LOC130002206 +417 more	Copy number loss	See cases	GPathogenic
Select item 149230	GRCh38/hg38 9q22.33-31.3(chr9:99024205-109947890)x1	ABCA1, ABITRAM +253 more	Copy number loss	See cases	GPathogenic
Select item 161058	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	ABCA1, ABITRAM +514 more	Copy number loss	See cases	GPathogenic
Select item 32222	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	ABCA1, ABITRAM +514 more	Copy number loss	See cases	GPathogenic
Select item 59123	GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1	CT70, CTNNAL1 +509 more	Copy number loss	See cases	GPathogenic
Select item 57370	GRCh38/hg38 9q22.33-31.1(chr9:99465640-100281736)x1	ERP44, INVS +21 more	Copy number loss	See cases	GUncertain significance
Select item 364217	NM_014425.5(INVS):c.-178G>A	INVS	Single nucleotide variant (5 prime UTR variant +1 more)	Infantile nephronophthisis	GUncertain significance
Select item 914933	NM_014425.5(INVS):c.-176C>T	INVS	Single nucleotide variant (5 prime UTR variant +1 more)	Infantile nephronophthisis	GUncertain significance
Select item 364218	NM_014425.5(INVS):c.-155C>T	INVS	Single nucleotide variant (5 prime UTR variant +1 more)	Infantile nephronophthisis	GLikely benign
Select item 364219	NM_014425.5(INVS):c.-129C>A	INVS, LOC130002251	Single nucleotide variant (5 prime UTR variant +1 more)	Infantile nephronophthisis	GUncertain significance
Select item 364220	NM_014425.5(INVS):c.-110T>G	LOC130002251, INVS	Single nucleotide variant (5 prime UTR variant +1 more)	Infantile nephronophthisis +3 more	GBenign
Select item 417554	NC_000009.12:g.(?_100104498)_(100104627_?)del	INVS	Deletion	Nephronophthisis	GPathogenic
Select item 95593	NM_014425.5(INVS):c.-17C>T	INVS	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1517475	NM_014425.5(INVS):c.6C>A (p.Asn2Lys)	INVS (N2K)	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis	GUncertain significance
Select item 1518018	NM_014425.5(INVS):c.10T>G (p.Ser4Ala)	INVS (S4A)	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis	GUncertain significance
Select item 698486	NM_014425.5(INVS):c.27T>C (p.Phe9=)	INVS	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis	GLikely benign
Select item 497875	NM_014425.5(INVS):c.33T>C (p.Gly11=)	INVS	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis +1 more	GConflicting classifications of pathogenicity
Select item 2890731	NM_014425.5(INVS):c.39A>G (p.Ser13=)	INVS	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis	GLikely benign
Select item 2885343	NM_014425.5(INVS):c.48A>T (p.Ser16=)	INVS	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis	GLikely benign
Select item 1639291	NM_014425.5(INVS):c.48A>G (p.Ser16=)	INVS	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis	GLikely benign
Select item 2793565	NM_014425.5(INVS):c.66C>A (p.Ala22=)	INVS	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis	GLikely benign
Select item 1541912	NM_014425.5(INVS):c.66C>T (p.Ala22=)	INVS	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis	GLikely benign
Select item 842184	NM_014425.5(INVS):c.67G>C (p.Val23Leu)	INVS (V23L)	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis	GUncertain significance
Select item 596755	NM_014425.5(INVS):c.67G>A (p.Val23Ile)	INVS (V23I)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GUncertain significance
Select item 1455250	NM_014425.5(INVS):c.83del (p.Gly28fs)	INVS (G28fs)	Deletion (5 prime UTR variant +2 more)	Nephronophthisis	GPathogenic
Select item 2918936	NM_014425.5(INVS):c.88C>T (p.Leu30=)	INVS	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis	GLikely benign
Select item 2579069	NM_014425.5(INVS):c.90A>G (p.Leu30=)	INVS	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis +1 more	GLikely benign
Select item 1398336	NM_014425.5(INVS):c.92A>G (p.Gln31Arg)	INVS (Q31R)	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis	GUncertain significance
Select item 704514	NM_014425.5(INVS):c.96G>A (p.Arg32=)	INVS	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis +1 more	GLikely benign
Select item 2888803	NM_014425.5(INVS):c.99C>G (p.Leu33=)	INVS	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis	GLikely benign
Select item 167194	NM_014425.5(INVS):c.102C>T (p.Ile34=)	INVS	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis +1 more	GBenign
Select item 1010223	NM_014425.5(INVS):c.103G>A (p.Val35Ile)	INVS (V35I)	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis +1 more	GUncertain significance
Select item 1929210	NM_014425.5(INVS):c.104T>C (p.Val35Ala)	INVS (V35A)	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis	GUncertain significance
Select item 1025089	NM_014425.5(INVS):c.106+3A>C	INVS	Single nucleotide variant (intron variant)	Nephronophthisis	GUncertain significance
Select item 859154	NM_014425.5(INVS):c.106+6C>T	INVS	Single nucleotide variant (intron variant)	Nephronophthisis	GUncertain significance
Select item 2712418	NM_014425.5(INVS):c.106+7A>G	INVS	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 2699797	NM_014425.5(INVS):c.106+14_106+15insAC	INVS	Insertion (intron variant)	Nephronophthisis	GLikely benign
Select item 2699798	NM_014425.5(INVS):c.106+15T>G	INVS	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 2699800	NM_014425.5(INVS):c.106+17A>T	INVS	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 2738314	NM_014425.5(INVS):c.106+18G>A	INVS	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 1617137	NM_014425.5(INVS):c.106+19dup	INVS	Duplication (intron variant)	Nephronophthisis	GLikely benign
Select item 2772357	NM_014425.5(INVS):c.106+20A>G	INVS	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 583808	NC_000009.12:g.(?_100126363)_(100126569_?)del	INVS	Deletion	Nephronophthisis	GPathogenic
Select item 2113631	NM_014425.5(INVS):c.107-17G>A	INVS	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 2720704	NM_014425.5(INVS):c.107-9T>C	INVS	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 593045	NM_014425.5(INVS):c.107-7C>T	INVS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2841043	NM_014425.5(INVS):c.107-1G>A	INVS	Single nucleotide variant (splice acceptor variant)	Nephronophthisis	GLikely pathogenic
Select item 196466	NM_014425.5(INVS):c.114T>C (p.Ser38=)	INVS	Single nucleotide variant (5 prime UTR variant +2 more)	INVS-related condition +2 more	GConflicting classifications of pathogenicity
Select item 963850	NM_014425.5(INVS):c.118C>T (p.Leu40Phe)	INVS (L40F)	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis +1 more	GUncertain significance
Select item 364221	NM_014425.5(INVS):c.118C>G (p.Leu40Val)	INVS (L40V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1386237	NM_014425.5(INVS):c.127_129del (p.Lys43del)	INVS (K43del)	Deletion (5 prime UTR variant +2 more)	Nephronophthisis	GUncertain significance
Select item 597626	NM_014425.5(INVS):c.131A>C (p.Glu44Ala)	INVS (E44A)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2077493	NM_014425.5(INVS):c.132A>G (p.Glu44=)	INVS	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis	GLikely benign
Select item 2911448	NM_014425.5(INVS):c.149C>T (p.Thr50Ile)	INVS (T50I)	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis	GUncertain significance
Select item 1604808	NM_014425.5(INVS):c.153A>G (p.Pro51=)	INVS	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis	GLikely benign
Select item 1439018	NM_014425.5(INVS):c.154C>T (p.Leu52Phe)	INVS (L52F)	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis	GUncertain significance
Select item 1495019	NM_014425.5(INVS):c.158T>C (p.Met53Thr)	INVS (M53T)	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis +1 more	GUncertain significance
Select item 2201840	NM_014425.5(INVS):c.162T>C (p.Tyr54=)	INVS	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis	GLikely benign
Select item 2728436	NM_014425.5(INVS):c.165C>T (p.Cys55=)	INVS	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis	GLikely benign
Select item 862437	NM_014425.5(INVS):c.166G>A (p.Val56Met)	INVS (V56M)	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis	GUncertain significance
Select item 568738	NM_014425.5(INVS):c.177_180dup (p.Leu61fs)	INVS (L61fs)	Duplication (5 prime UTR variant +2 more)	Nephronophthisis	GPathogenic
Select item 970180	NM_014425.5(INVS):c.178A>G (p.Arg60Gly)	INVS (R60G)	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis	GUncertain significance
Select item 260407	NM_014425.5(INVS):c.178A>C (p.Arg60=)	INVS	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2884878	NM_014425.5(INVS):c.186T>C (p.Asp62=)	INVS	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis	GLikely benign
Select item 2087776	NM_014425.5(INVS):c.194A>G (p.Asp65Gly)	INVS (D65G)	Single nucleotide variant (missense variant +2 more)	Nephronophthisis	GUncertain significance
Select item 597300	NM_014425.5(INVS):c.197C>T (p.Ala66Val)	INVS (A66V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 502574	NM_014425.5(INVS):c.198T>C (p.Ala66=)	INVS	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis +1 more	GConflicting classifications of pathogenicity
Select item 2817530	NM_014425.5(INVS):c.234C>T (p.Asp78=)	INVS	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis	GLikely benign
Select item 1443321	NM_014425.5(INVS):c.239G>A (p.Ser80Asn)	INVS (S80N)	Single nucleotide variant (5 prime UTR variant +2 more)	Infantile nephronophthisis +1 more	GUncertain significance
Select item 2821717	NM_014425.5(INVS):c.245del (p.Arg82fs)	INVS (R82fs)	Deletion (5 prime UTR variant +2 more)	Nephronophthisis	GPathogenic
Select item 2116766	NM_014425.5(INVS):c.256C>G (p.His86Asp)	INVS (H86D)	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis	GUncertain significance
Select item 598170	NM_014425.5(INVS):c.266C>T (p.Ala89Val)	INVS (A89V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1024543	NM_014425.5(INVS):c.269A>G (p.Gln90Arg)	INVS (Q90R)	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis	GUncertain significance
Select item 2766080	NM_014425.5(INVS):c.273+1G>A	INVS	Single nucleotide variant (splice donor variant)	Nephronophthisis	GLikely pathogenic
Select item 1465038	NM_014425.5(INVS):c.273+3G>A	INVS	Single nucleotide variant (intron variant)	Infantile nephronophthisis +1 more	GUncertain significance
Select item 1448741	NM_014425.5(INVS):c.273+5G>A	INVS	Single nucleotide variant (intron variant)	Nephronophthisis	GUncertain significance
Select item 2712101	NM_014425.5(INVS):c.273+13del	INVS	Deletion (intron variant)	Nephronophthisis	GBenign
Select item 2036536	NM_014425.5(INVS):c.273+15T>A	INVS	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 2854321	NM_014425.5(INVS):c.273+16T>C	INVS	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 260411	NM_014425.5(INVS):c.273+46C>T	INVS	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1239238	NM_014425.5(INVS):c.274-316A>T	INVS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230921	NM_014425.5(INVS):c.274-304del	INVS	Deletion (intron variant)	not provided	GBenign
Select item 1281931	NM_014425.5(INVS):c.274-308_274-307insG	INVS	Insertion (intron variant)	not provided	GBenign
Select item 1179223	NM_014425.5(INVS):c.274-153_274-152insTCTCA	INVS	Insertion (intron variant)	not provided	GBenign
Select item 1284167	NM_014425.5(INVS):c.274-110G>A	INVS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2856190	NM_014425.5(INVS):c.274-20_274-16del	INVS	Deletion (intron variant)	Nephronophthisis	GLikely benign
Select item 531639	NC_000009.12:g.(?_100226042)_(100226255_?)del	INVS	Deletion	Nephronophthisis	GUncertain significance
Select item 2738488	NM_014425.5(INVS):c.274-16_274-15del	INVS	Microsatellite (intron variant)	Nephronophthisis	GLikely benign

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