5034[HGNC] - ClinVar

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Items: 59

	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 153772	GRCh38/hg38 5q35.2-35.3(chr5:176291838-178662699)x1	ARL10, B4GALT7 +172 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 2348630	NM_031266.3(HNRNPAB):c.19G>A (p.Glu7Lys)	HNRNPAB, LOC129995413 (E7K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243452	NM_031266.3(HNRNPAB):c.30G>A (p.Met10Ile)	HNRNPAB, LOC129995413 (M10I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284546	NM_031266.3(HNRNPAB):c.35C>T (p.Thr12Met)	HNRNPAB, LOC129995413 (T12M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309401	NM_031266.3(HNRNPAB):c.55G>C (p.Gly19Arg)	HNRNPAB, LOC129995413 (G19R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284549	NM_031266.3(HNRNPAB):c.67G>A (p.Val23Ile)	HNRNPAB, LOC129995413 (V23I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249174	NM_031266.3(HNRNPAB):c.88G>C (p.Ala30Pro)	HNRNPAB, LOC129995413 (A30P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106382	NM_031266.3(HNRNPAB):c.127G>A (p.Ala43Thr)	HNRNPAB, LOC129995414 (A43T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562086	NM_031266.3(HNRNPAB):c.134C>T (p.Ala45Val)	HNRNPAB, LOC129995414 (A45V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332251	NM_031266.3(HNRNPAB):c.201G>C (p.Glu67Asp)	HNRNPAB, LOC129995414 (E67D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106383	NM_031266.3(HNRNPAB):c.395A>G (p.Glu132Gly)	HNRNPAB (E132G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106384	NM_031266.3(HNRNPAB):c.413G>A (p.Arg138His)	HNRNPAB (R138H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106385	NM_031266.3(HNRNPAB):c.502G>C (p.Glu168Gln)	HNRNPAB (E168Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106386	NM_031266.3(HNRNPAB):c.511A>G (p.Arg171Gly)	HNRNPAB (R171G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106387	NM_031266.3(HNRNPAB):c.559A>G (p.Met187Val)	HNRNPAB (M187V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270522	NM_031266.3(HNRNPAB):c.616G>C (p.Glu206Gln)	HNRNPAB, PHYKPL (E206Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270523	NM_031266.3(HNRNPAB):c.617A>C (p.Glu206Ala)	HNRNPAB, PHYKPL (E206A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284548	NM_031266.3(HNRNPAB):c.733C>T (p.Arg245Cys)	HNRNPAB, PHYKPL (R245C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3284551	NM_031266.3(HNRNPAB):c.734G>A (p.Arg245His)	HNRNPAB, PHYKPL (R245H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106388	NM_031266.3(HNRNPAB):c.743G>A (p.Arg248His)	HNRNPAB, PHYKPL (R248H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615995	NM_031266.3(HNRNPAB):c.818G>A (p.Gly273Asp)	HNRNPAB, PHYKPL (G273D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214165	NM_031266.3(HNRNPAB):c.880G>A (p.Asp294Asn)	HNRNPAB, PHYKPL (D294N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570303	NM_031266.3(HNRNPAB):c.899A>G (p.Tyr300Cys)	HNRNPAB, PHYKPL (Y300C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3284550	NM_031266.3(HNRNPAB):c.901T>C (p.Tyr301His)	HNRNPAB, PHYKPL (Y301H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3284547	NM_031266.3(HNRNPAB):c.904G>A (p.Gly302Ser)	HNRNPAB, PHYKPL (G302S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602147	NM_031266.3(HNRNPAB):c.916G>A (p.Gly306Ser)	HNRNPAB, PHYKPL (G306S)	Single nucleotide variant (missense variant +1 more)	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 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	CLK4, COL23A1 +13 more	Duplication		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 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 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 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

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Items: 59