RUFY1[gene] - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995188, LOC129995189 +863 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	LOC129995377, LOC129995378 +676 more	Copy number gain	See cases	GPathogenic
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	ADAMTS2, ARL10 +622 more	Copy number gain	See cases	GPathogenic
Select item 153687	GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1	ADAMTS2, ARL10 +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	LOC129995370, LOC129995371 +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 155523	GRCh38/hg38 5q35.3(chr5:178983149-179627701)x3	ADAMTS2, GRM6 +20 more	Copy number gain	See cases	GLikely benign
Select item 148408	GRCh38/hg38 5q35.3(chr5:178988364-179593557)x3	ADAMTS2, GRM6 +14 more	Copy number gain	See cases	GLikely benign
Select item 59474	GRCh38/hg38 5q35.3(chr5:179242296-179562686)x3	ADAMTS2, LOC100289470 +8 more	Copy number gain	See cases	GUncertain significance
Select item 2224556	NM_025158.5(RUFY1):c.26C>T (p.Ala9Val)	LOC128966623, LOC129995430 +1 more (A9V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398393	NM_025158.5(RUFY1):c.47T>G (p.Leu16Arg)	RUFY1, LOC128966623 +1 more (L16R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512995	NM_025158.5(RUFY1):c.98G>A (p.Gly33Glu)	LOC128966623, LOC129995430 +1 more (G33E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511098	NM_025158.5(RUFY1):c.212G>T (p.Arg71Leu)	LOC128966623, LOC129995430 +1 more (R71L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609041	NM_025158.5(RUFY1):c.232T>C (p.Ser78Pro)	RUFY1, LOC128966623 +1 more (S78P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234967	NM_025158.5(RUFY1):c.268G>A (p.Gly90Arg)	LOC128966623, LOC129995430 +1 more (G90R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552057	NM_025158.5(RUFY1):c.275G>T (p.Gly92Val)	LOC128966623, LOC129995430 +1 more (G92V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599073	NM_025158.5(RUFY1):c.277G>A (p.Gly93Ser)	LOC128966623, LOC129995430 +1 more (G93S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362075	NM_025158.5(RUFY1):c.280G>T (p.Gly94Trp)	LOC128966623, LOC129995430 +1 more (G94W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490899	NM_025158.5(RUFY1):c.295G>A (p.Gly99Ser)	LOC128966623, LOC129995430 +1 more (G99S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532903	NM_025158.5(RUFY1):c.374A>G (p.Lys125Arg)	LOC128966623, RUFY1 (K125R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491574	NM_025158.5(RUFY1):c.376G>A (p.Val126Met)	LOC128966623, RUFY1 (V126M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270594	NM_025158.5(RUFY1):c.389C>T (p.Ser130Leu)	LOC128966623, RUFY1 (S130L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532753	NM_025158.5(RUFY1):c.569T>C (p.Ile190Thr)	LOC128966623, RUFY1 (I82T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261656	NM_025158.5(RUFY1):c.698T>G (p.Leu233Arg)	LOC128966623, RUFY1 (L233R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521695	NM_025158.5(RUFY1):c.705C>T (p.Ser235=)	LOC128966623, RUFY1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2275430	NM_025158.5(RUFY1):c.705C>G (p.Ser235Arg)	LOC128966623, RUFY1 (S127R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598162	NM_025158.5(RUFY1):c.779A>G (p.Asn260Ser)	LOC128966623, RUFY1 (N260S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319121	NM_025158.5(RUFY1):c.877G>A (p.Asp293Asn)	LOC126807625, LOC128966623 +1 more (D185N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247068	NM_025158.5(RUFY1):c.1003A>T (p.Thr335Ser)	LOC128966623, RUFY1 (T335S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309217	NM_025158.5(RUFY1):c.1136A>G (p.Lys379Arg)	LOC128966623, RUFY1 (K379R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490346	NM_025158.5(RUFY1):c.1151T>G (p.Val384Gly)	LOC128966623, RUFY1 (V276G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218338	NM_025158.5(RUFY1):c.1241G>A (p.Arg414Gln)	LOC128966623, RUFY1 (R306Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489238	NM_025158.5(RUFY1):c.1423A>G (p.Ser475Gly)	RUFY1, LOC128966623 (S367G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377294	NM_025158.5(RUFY1):c.1528C>T (p.Arg510Trp)	LOC128966623, RUFY1 +1 more (R402W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2303932	NM_025158.5(RUFY1):c.1529G>A (p.Arg510Gln)	LOC128966623, RUFY1 +1 more (R402Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2558698	NM_025158.5(RUFY1):c.1543G>A (p.Ala515Thr)	LOC128966623, RUFY1 +1 more (A407T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2382367	NM_025158.5(RUFY1):c.1594G>A (p.Ala532Thr)	LOC128966623, RUFY1 +1 more (A532T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264105	NM_025158.5(RUFY1):c.1666G>C (p.Glu556Gln)	LOC128966623, RUFY1 +1 more (E448Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599264	NM_025158.5(RUFY1):c.1735C>A (p.Leu579Met)	LOC128966623, RUFY1 +1 more (L471M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523266	NM_025158.5(RUFY1):c.1810G>A (p.Glu604Lys)	LOC128966623, RUFY1 +1 more (E496K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455205	NM_025158.5(RUFY1):c.1958A>G (p.Lys653Arg)	LOC128966623, RUFY1 (K545R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245969	NM_025158.5(RUFY1):c.2077G>A (p.Asp693Asn)	LOC128966623, RUFY1 (D585N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241983	NM_025158.5(RUFY1):c.2105G>A (p.Arg702His)	LOC128966623, RUFY1 (R702H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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	RGS14, RMND5B +63 more	Duplication	not provided	GUncertain significance
Select item 2424787	NC_000005.9:g.(?_178413111)_(179263593_?)dup	ADAMTS2, C5orf60 +11 more	Duplication	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +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 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	CBY3, ADAMTS2 +8 more	Duplication	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 1023048	NC_000005.9:g.(?_178770758)_(179263603_?)dup	ADAMTS2, C5orf60 +8 more	Duplication	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +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 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 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 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 442504	GRCh37/hg19 5q35.3(chr5:178410737-179061393)x3	ADAMTS2, GRM6 +4 more	Copy number gain	See cases	GUncertain significance
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	FAT2, FAXDC2 +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	ABLIM3, CBY3 +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: 81