9364[HGNC] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 209

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932075, LOC129932076 +560 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	ANGPTL1, APOBEC4 +455 more	Copy number loss	See cases	GPathogenic
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129388668, LOC129388669 +477 more	Copy number loss	See cases	GPathogenic
Select item 60077	GRCh38/hg38 1q25.3-31.1(chr1:182137726-186931125)x1	APOBEC4, ARPC5 +160 more	Copy number loss	See cases	GPathogenic
Select item 144456	GRCh38/hg38 1q25.3-31.1(chr1:184888428-186622330)x1	GS1-204I12.4, HMCN1 +44 more	Copy number loss	See cases	GPathogenic
Select item 149055	GRCh38/hg38 1q31.1(chr1:185959703-187743891)x3	PLA2G4A, PRG4 +32 more	Copy number gain	See cases	GUncertain significance
Select item 154645	GRCh38/hg38 1q31.1(chr1:185977899-187712734)x3	HMCN1, LINC01036 +32 more	Copy number gain	See cases	GUncertain significance
Select item 1327442	NM_005807.6(PRG4):c.-30-30T>A	PRG4	Single nucleotide variant (intron variant)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GBenign
Select item 3051358	NM_005807.6(PRG4):c.-1G>A	PRG4	Single nucleotide variant (5 prime UTR variant)	PRG4-related disorder	GLikely benign
Select item 3062118	NM_005807.6(PRG4):c.23_26dup (p.Leu11fs)	PRG4 (L11fs)	Duplication (frameshift variant)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GLikely pathogenic
Select item 3049072	NM_005807.6(PRG4):c.77-9T>C	PRG4	Single nucleotide variant (intron variant)	PRG4-related disorder	GLikely benign
Select item 3045263	NM_005807.6(PRG4):c.96G>A (p.Gly32=)	PRG4	Single nucleotide variant (synonymous variant +1 more)	PRG4-related disorder	GLikely benign
Select item 3034776	NM_005807.6(PRG4):c.185G>A (p.Arg62Lys)	PRG4 (R62K)	Single nucleotide variant (missense variant +1 more)	PRG4-related disorder	GLikely benign
Select item 2639648	NM_005807.6(PRG4):c.198G>A (p.Ala66=)	PRG4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2535579	NM_005807.6(PRG4):c.202C>G (p.Leu68Val)	PRG4 (L27V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2639649	NM_005807.6(PRG4):c.267A>G (p.Gln89=)	PRG4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2357404	NM_005807.6(PRG4):c.277T>G (p.Tyr93Asp)	PRG4 (Y52D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309925	NM_005807.6(PRG4):c.299A>T (p.Tyr100Phe)	PRG4 (Y100F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1526151	NM_005807.6(PRG4):c.301G>T (p.Glu101Ter)	PRG4 (E101* +1 more)	Single nucleotide variant (nonsense)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GPathogenic
Select item 2435241	NM_005807.6(PRG4):c.308T>C (p.Phe103Ser)	PRG4 (F103S +1 more)	Single nucleotide variant (missense variant)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GUncertain significance
Select item 2519390	NM_005807.6(PRG4):c.316G>A (p.Glu106Lys)	PRG4 (E106K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373249	NM_005807.6(PRG4):c.341C>A (p.Pro114Gln)	PRG4 (P114Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2551873	NM_005807.6(PRG4):c.354A>C (p.Lys118Asn)	PRG4 (K118N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1722860	NM_005807.6(PRG4):c.403C>G (p.Arg135Gly)	PRG4 (R135G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3218630	NM_005807.6(PRG4):c.431A>C (p.Lys144Thr)	PRG4 (K144T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 518309	NM_005807.6(PRG4):c.538C>T (p.Arg180Trp)	PRG4 (R180W +1 more)	Single nucleotide variant (missense variant +1 more)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome +1 more	GBenign
Select item 2206527	NM_005807.6(PRG4):c.539G>A (p.Arg180Gln)	PRG4 (R180Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2342827	NM_005807.6(PRG4):c.560A>C (p.Asn187Thr)	PRG4 (N146T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3051195	NM_005807.6(PRG4):c.634C>T (p.Pro212Ser)	PRG4 (P119S +4 more)	Single nucleotide variant (missense variant)	PRG4-related disorder	GLikely benign
Select item 767737	NM_005807.6(PRG4):c.659A>C (p.Asp220Ala)	PRG4 (D179A +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3218631	NM_005807.6(PRG4):c.707C>A (p.Pro236His)	PRG4 (P143H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3037150	NM_005807.6(PRG4):c.713C>T (p.Thr238Met)	PRG4 (T104M +4 more)	Single nucleotide variant (missense variant)	PRG4-related disorder	GBenign
Select item 3036604	NM_005807.6(PRG4):c.720C>T (p.Thr240=)	PRG4	Single nucleotide variant (synonymous variant)	PRG4-related disorder	GLikely benign
Select item 3218632	NM_005807.6(PRG4):c.731A>G (p.Asn244Ser)	PRG4 (N151S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3046155	NM_005807.6(PRG4):c.756C>T (p.Ile252=)	PRG4	Single nucleotide variant (synonymous variant)	PRG4-related disorder	GBenign
Select item 3045729	NM_005807.6(PRG4):c.807T>C (p.Asp269=)	PRG4	Single nucleotide variant (synonymous variant)	PRG4-related disorder	GLikely benign
Select item 2406398	NM_005807.6(PRG4):c.848C>T (p.Thr283Ile)	PRG4 (T190I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 684672	NM_005807.6(PRG4):c.849del (p.Val284fs)	PRG4 (V191fs +4 more)	Deletion (frameshift variant)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GPathogenic
Select item 1292012	NM_005807.6(PRG4):c.867TAC[1] (p.Thr292del)	PRG4 (T158del +4 more)	Microsatellite (inframe_deletion)	PRG4-related disorder +1 more	GBenign
Select item 2639650	NM_005807.6(PRG4):c.879T>C (p.Asn293=)	PRG4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3218633	NM_005807.6(PRG4):c.892A>G (p.Thr298Ala)	PRG4 (T257A +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618028	NM_005807.6(PRG4):c.905A>T (p.Glu302Val)	PRG4 (E209V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597239	NM_005807.6(PRG4):c.919G>A (p.Ala307Thr)	PRG4 (A214T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535502	NM_005807.6(PRG4):c.931C>A (p.Gln311Lys)	PRG4 (Q177K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302399	NM_005807.6(PRG4):c.933A>C (p.Gln311His)	PRG4 (Q177H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1695913	NM_005807.6(PRG4):c.962T>A (p.Leu321Ter)	PRG4 (L187* +4 more)	Single nucleotide variant (nonsense)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GLikely pathogenic
Select item 2639651	NM_005807.6(PRG4):c.978A>G (p.Lys326=)	PRG4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3218634	NM_005807.6(PRG4):c.985G>A (p.Ala329Thr)	PRG4 (A288T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2639652	NM_005807.6(PRG4):c.996A>G (p.Thr332=)	PRG4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639653	NM_005807.6(PRG4):c.1006G>A (p.Glu336Lys)	PRG4 (E202K +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2577870	NM_005807.6(PRG4):c.1134dup (p.Lys379fs)	PRG4 (K245fs +4 more)	Duplication (frameshift variant)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GPathogenic
Select item 2558322	NM_005807.6(PRG4):c.1132C>T (p.Pro378Ser)	PRG4 (P337S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218615	NM_005807.6(PRG4):c.1162T>C (p.Ser388Pro)	PRG4 (S254P +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 684664	NM_005807.6(PRG4):c.1194del (p.Thr399fs)	PRG4 (T265fs +4 more)	Deletion (frameshift variant)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GPathogenic
Select item 2213878	NM_005807.6(PRG4):c.1211C>G (p.Pro404Arg)	PRG4 (P361R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308510	NM_005807.6(PRG4):c.1226C>T (p.Pro409Leu)	PRG4 (P366L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218616	NM_005807.6(PRG4):c.1230G>T (p.Lys410Asn)	PRG4 (K276N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541221	NM_005807.6(PRG4):c.1262C>T (p.Ala421Val)	PRG4 (A287V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2639654	NM_005807.6(PRG4):c.1272C>T (p.Thr424=)	PRG4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3218617	NM_005807.6(PRG4):c.1295C>A (p.Pro432His)	PRG4 (P298H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454329	NM_005807.6(PRG4):c.1306G>A (p.Ala436Thr)	PRG4 (A302T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 987918	NM_005807.6(PRG4):c.1320dup (p.Lys441fs)	PRG4 (K307fs +4 more)	Duplication (frameshift variant)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GPathogenic
Select item 770858	NM_005807.6(PRG4):c.1431_1454del (p.Thr478_Thr485del)	PRG4	Deletion (inframe_deletion)	not provided	GBenign
Select item 2482299	NM_005807.6(PRG4):c.1421C>T (p.Pro474Leu)	PRG4 (P340L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531914	NM_005807.6(PRG4):c.1441G>A (p.Glu481Lys)	PRG4 (E481K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2520899	NM_005807.6(PRG4):c.1457C>T (p.Ala486Val)	PRG4 (A393V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218618	NM_005807.6(PRG4):c.1547C>T (p.Pro516Leu)	PRG4 (P423L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495329	NM_005807.6(PRG4):c.1550C>T (p.Thr517Ile)	PRG4 (T517I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527811	NM_005807.6(PRG4):c.1576A>T (p.Thr526Ser)	PRG4 (T485S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2639655	NM_005807.6(PRG4):c.1578C>T (p.Thr526=)	PRG4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2316361	NM_005807.6(PRG4):c.1609C>A (p.Pro537Thr)	PRG4 (P496T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2639656	NM_005807.6(PRG4):c.1668C>T (p.Thr556=)	PRG4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2392354	NM_005807.6(PRG4):c.1669A>C (p.Thr557Pro)	PRG4 (T464P +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2577871	NM_005807.6(PRG4):c.1699del (p.Glu567fs)	PRG4 (E433fs +4 more)	Deletion (frameshift variant)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GPathogenic
Select item 518310	NM_005807.6(PRG4):c.1737T>C (p.Thr579=)	PRG4	Single nucleotide variant (synonymous variant)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome +1 more	GBenign/Likely benign
Select item 2508999	NM_005807.6(PRG4):c.1757C>T (p.Pro586Leu)	PRG4 (P493L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218619	NM_005807.6(PRG4):c.1765C>T (p.Pro589Ser)	PRG4 (P546S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218620	NM_005807.6(PRG4):c.1802C>T (p.Ala601Val)	PRG4 (A508V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1327443	NM_005807.6(PRG4):c.1810A>G (p.Thr604Ala)	PRG4 (T470A +4 more)	Single nucleotide variant (missense variant)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GBenign
Select item 2336432	NM_005807.6(PRG4):c.1811C>T (p.Thr604Ile)	PRG4 (T561I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308305	NM_005807.6(PRG4):c.1813C>T (p.Pro605Ser)	PRG4 (P512S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603818	NM_005807.6(PRG4):c.1856C>A (p.Thr619Asn)	PRG4 (T526N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214677	NM_005807.6(PRG4):c.1870C>T (p.Leu624Phe)	PRG4 (L490F +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331127	NM_005807.6(PRG4):c.1873A>C (p.Thr625Pro)	PRG4 (T532P +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1218909	NM_005807.6(PRG4):c.1887_1891delinsTGAGAAGCCCGCACCCACCACCCCTGAGG (p.Lys631_Leu632insProAlaProThrThrProGluGlu)	PRG4	Indel (inframe_insertion)	not provided	GLikely benign
Select item 2305216	NM_005807.6(PRG4):c.1897G>C (p.Ala633Pro)	PRG4 (A499P +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 684670	NM_005807.6(PRG4):c.1910_1911del (p.Pro637fs)	PRG4 (P637fs +4 more)	Deletion (frameshift variant)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GPathogenic
Select item 684669	NM_005807.6(PRG4):c.1911del (p.Glu638fs)	PRG4 (E504fs +4 more)	Deletion (frameshift variant)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GPathogenic
Select item 2639657	NM_005807.6(PRG4):c.1935T>A (p.Pro645=)	PRG4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1323496	NM_005807.6(PRG4):c.1935del (p.Glu646fs)	PRG4 (E512fs +4 more)	Deletion (frameshift variant)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GPathogenic
Select item 2350097	NM_005807.6(PRG4):c.1979C>A (p.Thr660Asn)	PRG4 (T567N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303127	NM_005807.6(PRG4):c.1990C>G (p.Pro664Ala)	PRG4 (P530A +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 781600	NM_005807.6(PRG4):c.1992T>C (p.Pro664=)	PRG4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2410863	NM_005807.6(PRG4):c.2015C>T (p.Ala672Val)	PRG4 (A538V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525084	NM_005807.6(PRG4):c.2044C>T (p.Pro682Ser)	PRG4 (P639S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278517	NM_005807.6(PRG4):c.2059G>A (p.Glu687Lys)	PRG4 (E553K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218621	NM_005807.6(PRG4):c.2062C>T (p.Pro688Ser)	PRG4 (P554S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240330	NM_005807.6(PRG4):c.2177A>G (p.Lys726Arg)	PRG4 (K683R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

<< First< Prev

Page of 3