83463[Gene ID] - ClinVar

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

Search results

Items: 92

	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 2579264	GRCh38/hg38 5q35.2-35.3(chr5:176447531-177312407)x1	LOC129995352, LOC129995353 +65 more	Copy number loss	Sotos syndrome	GPathogenic
Select item 1707460	Single allele	CDHR2, EIF4E1B +71 more	Duplication	5q35 microduplication syndrome	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 3338422	Single allele	F12, FGFR4 +34 more	Duplication	Russell-Silver syndrome	GPathogenic
Select item 152817	GRCh38/hg38 5q35.3(chr5:177118445-177374609)x3	LMAN2, LOC121099716 +26 more	Copy number gain	See cases	GLikely pathogenic
Select item 149867	GRCh38/hg38 5q35.3(chr5:177261458-177651722)x3	B4GALT7, DBN1 +65 more	Copy number gain	See cases	GUncertain significance
Select item 3218511	NM_013237.4(PRELID1):c.475A>G (p.Met159Val)	MXD3, PRELID1 (M159V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493102	NM_013237.4(PRELID1):c.611C>T (p.Ala204Val)	MXD3, PRELID1 (A193V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271082	NM_013237.4(PRELID1):c.634C>A (p.Gln212Lys)	MXD3, PRELID1 (Q212K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592703	NM_013237.4(PRELID1):c.651G>T (p.Gln217His)	MXD3, PRELID1 (Q206H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459785	NM_013237.4(PRELID1):c.653T>G (p.Phe218Cys)	MXD3, PRELID1 (F207C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3297107	NM_031300.4(MXD3):c.607G>A (p.Gly203Ser)	MXD3 (G193S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598744	NM_031300.4(MXD3):c.571G>A (p.Val191Ile)	MXD3 (V181I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540018	NM_031300.4(MXD3):c.512T>C (p.Leu171Pro)	MXD3 (L171P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487899	NM_031300.4(MXD3):c.490T>C (p.Ser164Pro)	MXD3 (S164P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255973	NM_031300.4(MXD3):c.476T>C (p.Leu159Pro)	MXD3 (L149P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246763	NM_031300.4(MXD3):c.455A>G (p.Asp152Gly)	MXD3 (D142G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521647	NM_031300.4(MXD3):c.433G>A (p.Glu145Lys)	MXD3 (E135K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152115	NM_031300.4(MXD3):c.413G>C (p.Arg138Pro)	MXD3 (R128P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152113	NM_031300.4(MXD3):c.413G>A (p.Arg138Gln)	MXD3 (R128Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2309147	NM_031300.4(MXD3):c.382C>G (p.Gln128Glu)	MXD3 (Q128E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152107	NM_031300.4(MXD3):c.370C>T (p.Arg124Cys)	MXD3 (R114C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220997	NM_031300.4(MXD3):c.284C>T (p.Thr95Met)	MXD3 (T95M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656114	NM_031300.4(MXD3):c.264C>T (p.Ala88=)	MXD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2338833	NM_031300.4(MXD3):c.236G>A (p.Arg79Gln)	MXD3 (R69Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3152103	NM_031300.4(MXD3):c.235C>T (p.Arg79Trp)	MXD3 (R69W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243163	NM_031300.4(MXD3):c.227G>A (p.Cys76Tyr)	MXD3 (C76Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461009	NM_031300.4(MXD3):c.203G>A (p.Arg68His)	MXD3 (R68H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152093	NM_031300.4(MXD3):c.202C>T (p.Arg68Cys)	MXD3 (R68C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350206	NM_031300.4(MXD3):c.154C>T (p.Pro52Ser)	MXD3 (P52S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518574	NM_031300.4(MXD3):c.143C>T (p.Pro48Leu)	MXD3 (P48L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152133	NM_031300.4(MXD3):c.92C>A (p.Ser31Tyr)	MXD3 (S31Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525765	NM_031300.4(MXD3):c.89C>T (p.Ala30Val)	MXD3 (A30V)	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 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	ADAMTS2, ARL10 +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	SLC34A1, THOC3 +38 more	Copy number loss	Sotos syndrome	GPathogenic
Select item 830214	NC_000005.10:g.(177090796_177094455)_(177346090_177352856)dup	FGFR4, LMAN2 +4 more	Duplication	5q35 microduplication syndrome	GPathogenic
Select item 690278	Single allele	UNC5A, ZNF346 +28 more	Deletion	Marfanoid habitus and intellectual disability	GLikely pathogenic
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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 92