1473[HGNC] - ClinVar

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

Search results

Items: 89

	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 2590528	NM_001164444.2(CBY3):c.590T>C (p.Met197Thr)	CANX, CBY3 (M197T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600649	NM_001164444.2(CBY3):c.582G>A (p.Met194Ile)	CANX, CBY3 (M194I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613803	NM_001164444.2(CBY3):c.581T>A (p.Met194Lys)	CANX, CBY3 (M194K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291051	NM_001164444.2(CBY3):c.563A>T (p.Asp188Val)	CANX, CBY3 (D188V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371566	NM_001164444.2(CBY3):c.541C>G (p.Leu181Val)	CANX, CBY3 (L181V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310584	NM_001164444.2(CBY3):c.421A>C (p.Thr141Pro)	CANX, CBY3 (T141P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269094	NM_001164444.2(CBY3):c.387C>G (p.Asn129Lys)	CANX, CBY3 (N129K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263697	NM_001164444.2(CBY3):c.350G>A (p.Gly117Asp)	CANX, CBY3 (G117D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138113	NM_001164444.2(CBY3):c.329A>G (p.Asn110Ser)	CANX, CBY3 (N110S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138112	NM_001164444.2(CBY3):c.223A>G (p.Thr75Ala)	CBY3, CANX (T75A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349617	NM_001164444.2(CBY3):c.217T>G (p.Trp73Gly)	CANX, CBY3 (W73G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354327	NM_001164444.2(CBY3):c.210C>A (p.Ser70Arg)	CANX, CBY3 (S70R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138111	NM_001164444.2(CBY3):c.202C>T (p.His68Tyr)	CANX, CBY3 (H68Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216559	NM_001164444.2(CBY3):c.197C>T (p.Thr66Met)	CANX, CBY3 (T66M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263422	NM_001164444.2(CBY3):c.142A>T (p.Ser48Cys)	CANX, CBY3 (S48C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538383	NM_001164444.2(CBY3):c.86G>A (p.Gly29Glu)	CANX, CBY3 (G29E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600148	NM_001164444.2(CBY3):c.58G>A (p.Gly20Ser)	CANX, CBY3 (G20S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263131	NM_001746.4(CANX):c.58G>T (p.Ala20Ser)	CANX (A55S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2406083	NM_001746.4(CANX):c.87T>G (p.Ile29Met)	CANX (I64M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2308584	NM_001746.4(CANX):c.100G>C (p.Asp34His)	CANX (D69H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3136984	NM_001746.4(CANX):c.146C>T (p.Thr49Ile)	CANX (T103I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2362067	NM_001746.4(CANX):c.241T>G (p.Ser81Ala)	CANX (S116A +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3263128	NM_001746.4(CANX):c.280G>A (p.Asp94Asn)	CANX (D148N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3136986	NM_001746.4(CANX):c.419T>A (p.Leu140Gln)	CANX (L140Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136987	NM_001746.4(CANX):c.425A>G (p.Asp142Gly)	CANX (D177G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529785	NM_001746.4(CANX):c.617A>G (p.His206Arg)	CANX (H260R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238837	NM_001746.4(CANX):c.620A>G (p.Lys207Arg)	CANX (K207R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604306	NM_001746.4(CANX):c.766G>A (p.Val256Met)	CANX (V310M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136988	NM_001746.4(CANX):c.805C>T (p.Pro269Ser)	CANX (P161S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252617	NM_001746.4(CANX):c.830A>G (p.Glu277Gly)	CANX (E311G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215229	NM_001746.4(CANX):c.961G>A (p.Glu321Lys)	CANX (E355K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136989	NM_001746.4(CANX):c.991G>A (p.Val331Ile)	CANX (V385I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543819	NM_001746.4(CANX):c.1004A>G (p.Asp335Gly)	CANX (D227G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136980	NM_001746.4(CANX):c.1006G>A (p.Ala336Thr)	CANX (A336T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136981	NM_001746.4(CANX):c.1063A>G (p.Ile355Val)	CANX (I247V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367941	NM_001746.4(CANX):c.1102G>A (p.Val368Ile)	CANX (V368I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136982	NM_001746.4(CANX):c.1195C>G (p.Pro399Ala)	CANX (P399A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263130	NM_001746.4(CANX):c.1214C>A (p.Pro405Gln)	CANX (P439Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318803	NM_001746.4(CANX):c.1262C>T (p.Ala421Val)	CANX (A455V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537696	NM_001746.4(CANX):c.1355A>G (p.Asn452Ser)	CANX (N506S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3136983	NM_001746.4(CANX):c.1405G>A (p.Val469Ile)	CANX (V503I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263127	NM_001746.4(CANX):c.1442C>T (p.Pro481Leu)	CANX (P515L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263129	NM_001746.4(CANX):c.1490T>C (p.Leu497Pro)	CANX (L531P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279242	NM_001746.4(CANX):c.1532G>A (p.Gly511Asp)	CANX (G403D +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136985	NM_001746.4(CANX):c.1670A>C (p.Glu557Ala)	CANX (E592A +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388347	NM_001746.4(CANX):c.1678G>A (p.Gly560Ser)	CANX (G594S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 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 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

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: 89