ClinVar for Gene (Select 91522) - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3268655	NM_173465.4(COL23A1):c.440C>T (p.Pro147Leu)	COL23A1 (P147L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268654	NM_173465.4(COL23A1):c.1081G>C (p.Asp361His)	COL23A1 (D361H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268653	NM_173465.4(COL23A1):c.927C>G (p.Ile309Met)	COL23A1 (I309M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268652	NM_173465.4(COL23A1):c.667G>A (p.Gly223Ser)	COL23A1 (G223S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147462	NM_173465.4(COL23A1):c.881G>A (p.Arg294Gln)	COL23A1 (R294Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147461	NM_173465.4(COL23A1):c.835A>C (p.Lys279Gln)	COL23A1 (K279Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147460	NM_173465.4(COL23A1):c.718C>A (p.Pro240Thr)	COL23A1 (P240T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147459	NM_173465.4(COL23A1):c.598G>A (p.Asp200Asn)	COL23A1 (D200N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147458	NM_173465.4(COL23A1):c.428G>A (p.Arg143Gln)	COL23A1 (R143Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147457	NM_173465.4(COL23A1):c.269C>T (p.Pro90Leu)	COL23A1 (P90L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147456	NM_173465.4(COL23A1):c.247G>T (p.Ala83Ser)	COL23A1 (A83S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147455	NM_173465.4(COL23A1):c.235G>C (p.Gly79Arg)	COL23A1 (G79R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147454	NM_173465.4(COL23A1):c.1547C>T (p.Pro516Leu)	COL23A1 (P516L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147453	NM_173465.4(COL23A1):c.1502G>A (p.Arg501Gln)	COL23A1 (R501Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147452	NM_173465.4(COL23A1):c.1315G>A (p.Gly439Arg)	COL23A1 (G439R)	Single nucleotide variant (missense variant)	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 3062841	GRCh37/hg19 5q35.2-35.3(chr5:176385815-178410738)x1	B4GALT7, CLK4 +33 more	Copy number loss	not specified	GPathogenic
Select item 3062813	GRCh37/hg19 5q35.3(chr5:177944162-180198875)x3	ZNF354A, ZNF354B +27 more	Copy number gain	not specified	GPathogenic
Select item 2656127	NM_173465.4(COL23A1):c.1266G>A (p.Pro422=)	COL23A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656126	NM_173465.4(COL23A1):c.1422C>T (p.Pro474=)	COL23A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2595663	NM_173465.4(COL23A1):c.590C>G (p.Pro197Arg)	COL23A1 (P197R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559065	NM_173465.4(COL23A1):c.745C>T (p.Pro249Ser)	COL23A1 (P249S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552198	NM_173465.4(COL23A1):c.782C>T (p.Pro261Leu)	COL23A1 (P261L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525430	NM_173465.4(COL23A1):c.377G>A (p.Arg126His)	COL23A1 (R126H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513097	NM_173465.4(COL23A1):c.238C>T (p.Pro80Ser)	COL23A1 (P80S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492635	NM_173465.4(COL23A1):c.280C>A (p.Arg94Ser)	COL23A1 (R94S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488188	NM_173465.4(COL23A1):c.1304A>G (p.Asp435Gly)	COL23A1 (D435G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463101	NM_173465.4(COL23A1):c.338C>T (p.Pro113Leu)	COL23A1 (P113L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425922	NC_000005.9:g.(?_175158654)_(179263593_?)dup	ADAMTS2, ARL10 +63 more	Duplication	not provided	GUncertain significance
Select item 2425705	NC_000005.9:g.(?_177031160)_(178414004_?)dup	B4GALT7, CLK4 +13 more	Duplication		GUncertain significance
Select item 2343023	NM_173465.4(COL23A1):c.119G>T (p.Cys40Phe)	COL23A1 (C40F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336067	NM_173465.4(COL23A1):c.433G>C (p.Gly145Arg)	COL23A1 (G145R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334204	NM_173465.4(COL23A1):c.928G>A (p.Asp310Asn)	COL23A1 (D310N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327273	NM_173465.4(COL23A1):c.1094C>T (p.Pro365Leu)	COL23A1 (P365L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317188	NM_173465.4(COL23A1):c.343G>A (p.Glu115Lys)	COL23A1 (E115K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305014	NM_173465.4(COL23A1):c.1224A>G (p.Ile408Met)	COL23A1 (I408M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250084	NM_173465.4(COL23A1):c.863A>G (p.Asp288Gly)	COL23A1 (D288G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246371	NM_173465.4(COL23A1):c.229C>T (p.Arg77Cys)	COL23A1 (R77C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240961	NM_173465.4(COL23A1):c.1492A>C (p.Lys498Gln)	COL23A1 (K498Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230649	NM_173465.4(COL23A1):c.970G>A (p.Gly324Arg)	COL23A1 (G324R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215044	NM_173465.4(COL23A1):c.665A>G (p.Asp222Gly)	COL23A1 (D222G)	Single nucleotide variant (missense variant)	not specified	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 1808750	GRCh37/hg19 5q35.2-35.3(chr5:176516440-177773252)x3	B4GALT7, COL23A1 +25 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 1691114	NM_173465.4(COL23A1):c.362-13771A>G	COL23A1	Single nucleotide variant (intron variant)	Vascular endothelial growth factor (VEGF) inhibitor response	Gassociation
Select item 1527207	GRCh37/hg19 5q35.3(chr5:177954576-180198875)	ADAMTS2, C5orf60 +27 more	Copy number gain	not specified	GUncertain significance
Select item 1527206	GRCh37/hg19 5q35.3(chr5:177926393-178613706)	ADAMTS2, CLK4 +8 more	Copy number loss	not specified	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 979538	GRCh37/hg19 5q35.3(chr5:177383384-177926234)x3	RMND5B, N4BP3 +5 more	Copy number gain	not provided	GUncertain significance
Select item 687207	GRCh37/hg19 5q35.3(chr5:177788681-178982549)x3	ADAMTS2, CLK4 +9 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 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 563133	GRCh37/hg19 5q35.3(chr5:177622252-178478398)x1	ZFP2, GRM6 +8 more	Copy number loss	not provided	GUncertain significance
Select item 563132	GRCh37/hg19 5q35.3(chr5:177532379-178306035)x3	CLK4, COL23A1 +7 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 563130	GRCh37/hg19 5q35.3(chr5:176918345-179061393)x1	RUFY1, TMED9 +23 more	Copy number loss	not provided	GPathogenic
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 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 187821	GRCh37/hg19 5q35.2-35.3(chr5:174397487-180686444)x1	BTNL9, C5orf60 +92 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 154193	GRCh38/hg38 5q35.3(chr5:178235909-181292788)x3	ADAMTS2, BTNL3 +207 more	Copy number gain	See cases	GLikely pathogenic
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 153687	GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1	LOC129995359, LOC129995360 +386 more	Copy number loss	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 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 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 58123	GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3	ADAMTS2, ARL10 +292 more	Copy number gain	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 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 57495	GRCh38/hg38 5q35.3(chr5:178529878-181269805)x3	ADAMTS2, BTNL3 +203 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 80