22958[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	ADAM19, ADAMTS2 +863 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	LOC129995246, LOC129995247 +622 more	Copy number gain	See cases	GPathogenic
Select item 153687	GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1	LOC129995359, LOC129995360 +386 more	Copy number loss	See cases	GPathogenic
Select item 58122	GRCh38/hg38 5q35.2-35.3(chr5:175851047-178365049)x3	FAM153A, FAM153B +176 more	Copy number gain	See cases	GPathogenic
Select item 58123	GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3	ADAMTS2, ARL10 +292 more	Copy number gain	See cases	GPathogenic
Select item 154297	GRCh38/hg38 5q35.2-35.3(chr5:175989092-178009412)x1	ARL10, B4GALT7 +145 more	Copy number loss	See cases	GPathogenic
Select item 59300	GRCh38/hg38 5q35.2-35.3(chr5:176043476-177995759)x1	ARL10, B4GALT7 +145 more	Copy number loss	See cases	GPathogenic
Select item 59301	GRCh38/hg38 5q35.2-35.3(chr5:176115257-177646633)x1	LOC129995374, LOC129995375 +136 more	Copy number loss	See cases	GPathogenic
Select item 154443	GRCh38/hg38 5q35.2-35.3(chr5:176132340-177995759)x1	ARL10, B4GALT7 +142 more	Copy number loss	See cases	GPathogenic
Select item 57051	GRCh38/hg38 5q35.2-35.3(chr5:176132340-177586960)x1	ARL10, CDHR2 +129 more	Copy number loss	See cases	GPathogenic
Select item 155396	GRCh38/hg38 5q35.2-35.3(chr5:176143674-178009412)x1	ARL10, B4GALT7 +141 more	Copy number loss	See cases	GPathogenic
Select item 59634	GRCh38/hg38 5q35.2-35.3(chr5:176149599-177716401)x3	ARL10, B4GALT7 +137 more	Copy number gain	See cases	GPathogenic
Select item 59303	GRCh38/hg38 5q35.2-35.3(chr5:176152073-177646633)x1	ARL10, B4GALT7 +134 more	Copy number loss	See cases	GPathogenic
Select item 59302	GRCh38/hg38 5q35.2-35.3(chr5:176152073-177986213)x1	ARL10, B4GALT7 +140 more	Copy number loss	See cases	GPathogenic
Select item 153772	GRCh38/hg38 5q35.2-35.3(chr5:176291838-178662699)x1	ARL10, B4GALT7 +172 more	Copy number loss	See cases	GPathogenic
Select item 154471	GRCh38/hg38 5q35.2-35.3(chr5:176517339-177709289)x1	B4GALT7, CDHR2 +113 more	Copy number loss	See cases	GPathogenic
Select item 154581	GRCh38/hg38 5q35.2-35.3(chr5:176700128-181269805)x1	ADAMTS2, B4GALT7 +325 more	Copy number loss	See cases	GPathogenic
Select item 149867	GRCh38/hg38 5q35.3(chr5:177261458-177651722)x3	B4GALT7, DBN1 +65 more	Copy number gain	See cases	GUncertain significance
Select item 3211017	NM_005451.5(PDLIM7):c.1331A>G (p.Lys444Arg)	PDLIM7 (K410R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211016	NM_005451.5(PDLIM7):c.1330A>G (p.Lys444Glu)	PDLIM7 (K444E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 717548	NM_005451.5(PDLIM7):c.1302C>T (p.Asn434=)	PDLIM7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2326026	NM_005451.5(PDLIM7):c.1186T>A (p.Phe396Ile)	PDLIM7 (F362I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537389	NM_005451.5(PDLIM7):c.1160A>G (p.Tyr387Cys)	PDLIM7 (Y353C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211015	NM_005451.5(PDLIM7):c.1153G>A (p.Val385Met)	PDLIM7 (V351M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255952	NM_005451.5(PDLIM7):c.1141A>G (p.Met381Val)	PDLIM7 (M347V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289118	NM_005451.5(PDLIM7):c.1115C>T (p.Thr372Met)	PDLIM7 (T372M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 720469	NM_005451.5(PDLIM7):c.1086G>T (p.Val362=)	PDLIM7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2366518	NM_005451.5(PDLIM7):c.1003G>A (p.Val335Met)	PDLIM7 (V301M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211027	NM_005451.5(PDLIM7):c.868C>T (p.Arg290Trp)	PDLIM7 (R256W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211026	NM_005451.5(PDLIM7):c.860A>G (p.Lys287Arg)	PDLIM7 (K253R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211025	NM_005451.5(PDLIM7):c.841G>A (p.Val281Met)	PDLIM7 (V281M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 724049	NM_005451.5(PDLIM7):c.798C>T (p.Ala266=)	PDLIM7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2387777	NM_005451.5(PDLIM7):c.752C>T (p.Thr251Met)	PDLIM7 (T217M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605268	NM_005451.5(PDLIM7):c.721A>G (p.Thr241Ala)	PDLIM7 (T207A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211024	NM_005451.5(PDLIM7):c.712A>G (p.Lys238Glu)	PDLIM7 (K238E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545912	NM_005451.5(PDLIM7):c.711C>G (p.Asp237Glu)	PDLIM7 (D203E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 783626	NM_005451.5(PDLIM7):c.708G>A (p.Pro236=)	PDLIM7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2513573	NM_005451.5(PDLIM7):c.694G>C (p.Glu232Gln)	PDLIM7 (E198Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602050	NM_005451.5(PDLIM7):c.685G>A (p.Ala229Thr)	PDLIM7 (A229T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211023	NM_005451.5(PDLIM7):c.665C>T (p.Pro222Leu)	PDLIM7 (P222L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593959	NM_005451.5(PDLIM7):c.661C>T (p.Arg221Cys)	PDLIM7 (R187C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622885	NM_005451.5(PDLIM7):c.631C>T (p.Pro211Ser)	PDLIM7 (P211S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211021	NM_005451.5(PDLIM7):c.614C>T (p.Thr205Ile)	PDLIM7 (T171I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359577	NM_005451.5(PDLIM7):c.542A>G (p.Asp181Gly)	LOC121099718, PDLIM7 (D181G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 733996	NM_005451.5(PDLIM7):c.536-8C>T	LOC121099718, PDLIM7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 727280	NM_005451.5(PDLIM7):c.477G>A (p.Pro159=)	LOC121099718, PDLIM7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2294812	NM_005451.5(PDLIM7):c.473G>A (p.Arg158Gln)	LOC121099718, PDLIM7 (R124Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306802	NM_005451.5(PDLIM7):c.470C>T (p.Pro157Leu)	LOC121099718, PDLIM7 (P123L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211020	NM_005451.5(PDLIM7):c.418G>C (p.Val140Leu)	LOC121099718, PDLIM7 (V106L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302608	NM_005451.5(PDLIM7):c.418G>A (p.Val140Ile)	LOC121099718, PDLIM7 (V140I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545480	NM_005451.5(PDLIM7):c.382G>T (p.Ala128Ser)	PDLIM7 (A128S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3211019	NM_005451.5(PDLIM7):c.349C>T (p.Arg117Trp)	PDLIM7 (R117W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3211018	NM_005451.5(PDLIM7):c.304C>T (p.Pro102Ser)	PDLIM7 (P102S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2274049	NM_005451.5(PDLIM7):c.256C>G (p.Pro86Ala)	PDLIM7 (P86A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364265	NM_005451.5(PDLIM7):c.226C>A (p.Arg76Ser)	PDLIM7 (R76S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325035	NM_005451.5(PDLIM7):c.211C>T (p.Arg71Trp)	PDLIM7 (R71W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466934	NM_005451.5(PDLIM7):c.166G>A (p.Glu56Lys)	PDLIM7 (E56K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600177	NM_005451.5(PDLIM7):c.127G>A (p.Gly43Arg)	PDLIM7 (G43R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217878	NM_005451.5(PDLIM7):c.74A>G (p.Asn25Ser)	PDLIM7 (N25S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206025	NM_005451.5(PDLIM7):c.67G>T (p.Asp23Tyr)	PDLIM7 (D23Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301131	NM_005451.5(PDLIM7):c.44G>A (p.Gly15Asp)	PDLIM7 (G15D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062847	GRCh37/hg19 5q35.3(chr5:176744569-177107777)x3	B4GALT7, DBN1 +12 more	Copy number gain	not specified	GUncertain significance
Select item 3062841	GRCh37/hg19 5q35.2-35.3(chr5:176385815-178410738)x1	B4GALT7, CLK4 +33 more	Copy number loss	not specified	GPathogenic
Select item 2685186	GRCh37/hg19 5q35.2-35.3(chr5:175332333-177469711)x1	ARL10, B4GALT7 +38 more	Copy number loss	not provided	GPathogenic
Select item 2671584	Single allele	FAM193B, GPRIN1 +36 more	Deletion	not provided	GPathogenic
Select item 2426758	NC_000005.9:g.(?_176618865)_(177036696_?)dup	B4GALT7, DBN1 +16 more	Duplication	Sotos syndrome	GUncertain significance
Select item 2425922	NC_000005.9:g.(?_175158654)_(179263593_?)dup	C5orf60, CANX +63 more	Duplication	not provided	GUncertain significance
Select item 2424617	NC_000005.9:g.(?_176289625)_(177151363_?)del	B4GALT7, DBN1 +22 more	Deletion	Sotos syndrome	GPathogenic
Select item 1808750	GRCh37/hg19 5q35.2-35.3(chr5:176516440-177773252)x3	B4GALT7, COL23A1 +25 more	Copy number gain	not provided	GLikely pathogenic
Select item 1807957	GRCh37/hg19 5q35.3(chr5:176616151-177107778)x3	B4GALT7, DBN1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 1807876	GRCh37/hg19 5q35.3(chr5:176718361-176957659)x3	DBN1, DDX41 +14 more	Copy number gain	not provided	GUncertain significance
Select item 1807722	GRCh37/hg19 5q35.2-35.3(chr5:176547912-177126647)x3	B4GALT7, DBN1 +16 more	Copy number gain	not provided	GLikely pathogenic
Select item 1711097	GRCh37/hg19 5q35.1-35.3(chr5:170350336-180719789)x3	ADAMTS2, ARL10 +117 more	Copy number gain	See cases	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1437053	NC_000005.9:g.(?_176047812)_(177422934_?)del	B4GALT7, DBN1 +26 more	Deletion	Ehlers-Danlos syndrome progeroid type	GUncertain significance
Select item 1340213	GRCh37/hg19 5q35.2-35.3(chr5:176497464-177776599)x3	B4GALT7, COL23A1 +25 more	Copy number gain	not provided	GLikely pathogenic
Select item 981214	GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3	ADAMTS2, ARL10 +115 more	Copy number gain	5q35 microduplication syndrome	GPathogenic
Select item 979537	GRCh37/hg19 5q35.2-35.3(chr5:175394616-177436413)x3	ARL10, B4GALT7 +38 more	Copy number gain	not provided	GPathogenic
Select item 979536	GRCh37/hg19 5q35.2-35.3(chr5:175570677-177114151)x3	ARL10, B4GALT7 +34 more	Copy number gain	not provided	GPathogenic
Select item 975831	GRCh37/hg19 5q35.2-35.3(chr5:175346695-177469711)x1	UIMC1, UNC5A +38 more	Copy number loss	Sotos syndrome	GPathogenic
Select item 690278	Single allele	B4GALT7, CDHR2 +28 more	Deletion	Marfanoid habitus and intellectual disability	GLikely pathogenic
Select item 687644	GRCh37/hg19 5q35.3(chr5:176774402-177064884)x4	B4GALT7, DBN1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 686512	GRCh37/hg19 5q35.3(chr5:176848982-180719789)x3	ADAMTS2, B4GALT7 +59 more	Copy number gain	not provided	GPathogenic
Select item 685882	GRCh37/hg19 5q35.3(chr5:176643613-179085551)x3	COL23A1, ADAMTS2 +36 more	Copy number gain	not provided	GUncertain significance
Select item 685440	GRCh37/hg19 5q35.2-35.3(chr5:175570677-177439550)x3	ARL10, B4GALT7 +36 more	Copy number gain	not provided	GPathogenic
Select item 684934	GRCh37/hg19 5q35.3(chr5:176732536-177260046)x1	B4GALT7, DBN1 +15 more	Copy number loss	not provided	GUncertain significance
Select item 626286	Single allele	ADAMTS2, B4GALT7 +80 more	Duplication	not provided	GLikely pathogenic
Select item 625704	GRCh37/hg19 5q35.2-35.3(chr5:176305543-177422876)	B4GALT7, DBN1 +23 more	Copy number gain	not provided	GPathogenic
Select item 625703	GRCh37/hg19 5q35.2-35.3(chr5:174990352-180690937)	ADAMTS2, ARL10 +90 more	Copy number gain	not provided	GPathogenic
Select item 563130	GRCh37/hg19 5q35.3(chr5:176918345-179061393)x1	RUFY1, TMED9 +23 more	Copy number loss	not provided	GPathogenic
Select item 563129	GRCh37/hg19 5q35.2-35.3(chr5:176044976-177023859)x1	DBN1, DDX41 +23 more	Copy number loss	not provided	GPathogenic
Select item 563126	GRCh37/hg19 5q35.2-35.3(chr5:175570677-177436413)x1	ARL10, B4GALT7 +36 more	Copy number loss	not provided	GPathogenic
Select item 563125	GRCh37/hg19 5q35.2-35.3(chr5:175438045-177481250)x1	ARL10, B4GALT7 +37 more	Copy number loss	not provided	GPathogenic
Select item 560112	Single allele	B4GALT7, DBN1 +13 more	Duplication	not provided	GUncertain significance
Select item 443960	GRCh37/hg19 5q35.2-35.3(chr5:175570678-177437340)x1	ARL10, B4GALT7 +36 more	Copy number loss	See cases	GPathogenic
Select item 443249	GRCh37/hg19 5q35.2-35.3(chr5:175570677-177439550)x3	ARL10, B4GALT7 +36 more	Copy number gain	See cases	GPathogenic
Select item 443005	GRCh37/hg19 5q35.2-35.3(chr5:175570677-180719789)x1	ADAMTS2, ARL10 +86 more	Copy number loss	See cases	GPathogenic
Select item 442855	GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3	ADAMTS2, ARL10 +106 more	Copy number gain	See cases	GPathogenic

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