28130[HGNC] - ClinVar

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Search results

Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 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 3219559	NM_030567.5(PRR7):c.73G>C (p.Val25Leu)	PRR7 (V25L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278537	NM_030567.5(PRR7):c.118C>T (p.Arg40Trp)	PRR7 (R40W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219555	NM_030567.5(PRR7):c.199G>A (p.Gly67Arg)	LOC121099717, PRR7 (G67R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219556	NM_030567.5(PRR7):c.284A>T (p.His95Leu)	LOC121099717, PRR7 (H95L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298857	NM_030567.5(PRR7):c.285C>A (p.His95Gln)	LOC121099717, PRR7 (H95Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261686	NM_030567.5(PRR7):c.293T>C (p.Val98Ala)	LOC121099717, PRR7 (V98A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310514	NM_030567.5(PRR7):c.312C>G (p.His104Gln)	LOC121099717, PRR7 (H104Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310516	NM_030567.5(PRR7):c.349C>A (p.Pro117Thr)	LOC121099717, PRR7 (P117T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557806	NM_030567.5(PRR7):c.368C>G (p.Pro123Arg)	LOC121099717, PRR7 (P123R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535580	NM_030567.5(PRR7):c.372C>G (p.His124Gln)	LOC121099717, PRR7 (H124Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361464	NM_030567.5(PRR7):c.379C>T (p.Pro127Ser)	LOC121099717, PRR7 (P127S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219558	NM_030567.5(PRR7):c.569G>C (p.Ser190Thr)	PRR7 (S190T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312225	NM_030567.5(PRR7):c.659C>A (p.Pro220His)	LOC129995383, PRR7 (P220H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310515	NM_030567.5(PRR7):c.731C>A (p.Thr244Asn)	LOC129995383, PRR7 (T244N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305711	NM_030567.5(PRR7):c.746G>A (p.Ser249Asn)	LOC129995383, PRR7 (S249N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310636	NM_030567.5(PRR7):c.757C>A (p.Pro253Thr)	PRR7 (P253T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219560	NM_030567.5(PRR7):c.765G>C (p.Glu255Asp)	PRR7 (E255D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242320	GRCh37/hg19 5q35.2-35.3(chr5:175470000-177450000)x1	ARL10, B4GALT7 +37 more	Copy number loss	not provided	GPathogenic
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	PDLIM7, PFN3 +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	GRK6, HK3 +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	ARL10, B4GALT7 +38 more	Copy number loss	Sotos syndrome	GPathogenic
Select item 690278	Single allele	UNC5A, ZNF346 +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 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
Select item 442010	GRCh37/hg19 5q35.2-35.3(chr5:175438045-177392885)x1	ARL10, B4GALT7 +36 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 394090	GRCh37/hg19 5q35.2-35.3(chr5:175722788-177423091)x3	ARL10, B4GALT7 +36 more	Copy number gain	See cases	GPathogenic
Select item 187821	GRCh37/hg19 5q35.2-35.3(chr5:174397487-180686444)x1	BTNL9, C5orf60 +92 more	Copy number loss	See cases	GPathogenic

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Items: 81