4056[Gene ID] - ClinVar

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Items: 55

	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 58123	GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3	ADAMTS2, ARL10 +292 more	Copy number gain	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 154193	GRCh38/hg38 5q35.3(chr5:178235909-181292788)x3	ADAMTS2, BTNL3 +207 more	Copy number gain	See cases	GLikely pathogenic
Select item 57495	GRCh38/hg38 5q35.3(chr5:178529878-181269805)x3	ADAMTS2, BTNL3 +203 more	Copy number gain	See cases	GUncertain significance
Select item 145959	GRCh38/hg38 5q35.3(chr5:179669736-180897169)x1	CANX, CBY3 +85 more	Copy number loss	See cases	GLikely pathogenic
Select item 718414	NM_145867.2(LTC4S):c.24G>A (p.Leu8=)	LTC4S	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2433540	NM_145867.2(LTC4S):c.158+4A>C	LTC4S	Single nucleotide variant (intron variant)	Hypotonia-failure to thrive-microcephaly syndrome	GUncertain significance
Select item 2621818	NM_145867.2(LTC4S):c.166T>C (p.Cys56Arg)	LTC4S (C56R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065885	NM_145867.2(LTC4S):c.229+1G>A	LTC4S	Single nucleotide variant (splice donor variant)	Asthma, nasal polyps, and aspirin intolerance	GUncertain significance
Select item 736274	NM_145867.2(LTC4S):c.229+7G>A	LTC4S	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2291067	NM_145867.2(LTC4S):c.271C>T (p.Leu91Phe)	LTC4S (L91F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238365	NM_145867.2(LTC4S):c.272T>G (p.Leu91Arg)	LTC4S (L91R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121469	NM_145867.2(LTC4S):c.322C>A (p.Leu108Met)	LTC4S (L108M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292279	NM_145867.2(LTC4S):c.391C>T (p.Leu131Phe)	LTC4S (L131F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246409	NC_000005.9:g.(?_179220638)_(179263593_?)dup	LTC4S, MGAT4B +1 more	Duplication	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 3062874	GRCh37/hg19 5q35.3(chr5:178974997-179632637)x3	C5orf60, CANX +11 more	Copy number gain	not specified	GUncertain significance
Select item 3062850	GRCh37/hg19 5q35.3(chr5:177944162-180183615)x3	ADAMTS2, C5orf60 +27 more	Copy number gain	not specified	GUncertain significance
Select item 3062813	GRCh37/hg19 5q35.3(chr5:177944162-180198875)x3	ZNF354A, ZNF354B +27 more	Copy number gain	not specified	GPathogenic
Select item 2684437	GRCh37/hg19 5q35.3(chr5:178991938-179400807)x3	C5orf60, CANX +10 more	Copy number gain	not provided	GUncertain significance
Select item 2684436	GRCh37/hg19 5q35.3(chr5:178581633-180719789)x3	ADAMTS2, BTNL3 +34 more	Copy number gain	not provided	GUncertain significance
Select item 2425922	NC_000005.9:g.(?_175158654)_(179263593_?)dup	ADAMTS2, ARL10 +63 more	Duplication	not provided	GUncertain significance
Select item 2424787	NC_000005.9:g.(?_178413111)_(179263593_?)dup	ADAMTS2, CANX +11 more	Duplication	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 1809328	GRCh37/hg19 5q35.3(chr5:177746012-179975280)x3	ADAMTS2, C5orf60 +24 more	Copy number gain	not provided	GUncertain significance
Select item 1809056	GRCh37/hg19 5q35.3(chr5:178947702-179645244)x3	C5orf60, CANX +11 more	Copy number gain	not provided	GUncertain significance
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 1527211	GRCh37/hg19 5q35.3(chr5:179217944-179694141)	LTC4S, MAPK9 +6 more	Copy number gain	not specified	GUncertain significance
Select item 1527210	GRCh37/hg19 5q35.3(chr5:179082801-179409280)	CANX, CBY3 +7 more	Copy number gain	not specified	GUncertain significance
Select item 1527209	GRCh37/hg19 5q35.3(chr5:178860745-179534363)	C5orf60, CANX +11 more	Copy number loss	not specified	GUncertain significance
Select item 1527207	GRCh37/hg19 5q35.3(chr5:177954576-180198875)	ADAMTS2, C5orf60 +27 more	Copy number gain	not specified	GUncertain significance
Select item 1042381	NC_000005.9:g.(?_178699902)_(179263603_?)dup	ADAMTS2, CANX +8 more	Duplication	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 1023048	NC_000005.9:g.(?_178770758)_(179263603_?)dup	ADAMTS2, CANX +8 more	Duplication	Paget disease of bone 2, early-onset +1 more	GUncertain significance
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 814763	GRCh37/hg19 5q35.3(chr5:178487249-180622216)x4	ADAMTS2, BTNL3 +30 more	Copy number gain	not provided	GUncertain significance
Select item 689251	GRCh37/hg19 5q35.3(chr5:179180782-179231973)x3	LTC4S, MAML1 +1 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 635776	GRCh37/hg19 5q35.3(chr5:179085554-179524010)x3	MGAT4B, MRNIP +9 more	Copy number gain	Sensorineural hearing loss disorder	GUncertain significance
Select item 626286	Single allele	ADAMTS2, B4GALT7 +80 more	Duplication	not provided	GLikely pathogenic
Select item 625703	GRCh37/hg19 5q35.2-35.3(chr5:174990352-180690937)	ADAMTS2, ARL10 +90 more	Copy number gain	not provided	GPathogenic
Select item 625655	GRCh37/hg19 5q35.3(chr5:177776148-180687012)	ADAMTS2, BTNL3 +43 more	Copy number loss	not provided	GLikely pathogenic
Select item 563135	GRCh37/hg19 5q35.3(chr5:179016558-179409873)x3	CANX, CBY3 +10 more	Copy number gain	not provided	GUncertain significance
Select item 563134	GRCh37/hg19 5q35.3(chr5:178904345-179529124)x3	C5orf60, CANX +11 more	Copy number gain	not provided	GUncertain significance
Select item 563131	GRCh37/hg19 5q35.3(chr5:177114088-180719789)x1	ADAMTS2, BTNL3 +50 more	Copy number loss	not provided	GUncertain significance
Select item 443453	GRCh37/hg19 5q35.3(chr5:177535168-180719789)x3	ADAMTS2, BTNL3 +48 more	Copy number gain	See cases	GUncertain significance
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 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 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 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: 55