ClinVar for Gene (Select 51720) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3330911	NM_001199298.2(UIMC1):c.506A>T (p.His169Leu)	UIMC1 (H169L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330910	NM_001199298.2(UIMC1):c.1057A>G (p.Met353Val)	UIMC1 (M353V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3330909	NM_001199298.2(UIMC1):c.1502A>G (p.Asn501Ser)	UIMC1 (N335S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330908	NM_001199298.2(UIMC1):c.967C>A (p.Pro323Thr)	UIMC1 (P323T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3330907	NM_001199298.2(UIMC1):c.385A>G (p.Thr129Ala)	UIMC1 (T129A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330906	NM_001199298.2(UIMC1):c.705A>T (p.Glu235Asp)	UIMC1 (E235D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3330905	NM_001199298.2(UIMC1):c.1577G>C (p.Gly526Ala)	UIMC1 (G360A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242320	GRCh37/hg19 5q35.2-35.3(chr5:175470000-177450000)x1	ARL10, B4GALT7 +37 more	Copy number loss	not provided	GPathogenic
Select item 3186292	NM_001199298.2(UIMC1):c.904G>A (p.Val302Ile)	UIMC1 (V302I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3186291	NM_001199298.2(UIMC1):c.768C>G (p.His256Gln)	UIMC1 (H256Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3186290	NM_001199298.2(UIMC1):c.578C>T (p.Pro193Leu)	UIMC1 (P193L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186289	NM_001199298.2(UIMC1):c.495T>G (p.Phe165Leu)	UIMC1 (F165L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186288	NM_001199298.2(UIMC1):c.44G>A (p.Arg15Gln)	UIMC1 (R15Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3186287	NM_001199298.2(UIMC1):c.2122C>T (p.Arg708Trp)	UIMC1 (R542W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186286	NM_001199298.2(UIMC1):c.2012G>A (p.Arg671His)	UIMC1 (R671H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3186285	NM_001199298.2(UIMC1):c.1928C>T (p.Ser643Phe)	UIMC1 (S643F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186284	NM_001199298.2(UIMC1):c.1919A>T (p.Asp640Val)	UIMC1 (D640V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186283	NM_001199298.2(UIMC1):c.1813G>C (p.Glu605Gln)	UIMC1 (E439Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186282	NM_001199298.2(UIMC1):c.1807A>C (p.Thr603Pro)	UIMC1 (T437P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186280	NM_001199298.2(UIMC1):c.1090T>C (p.Ser364Pro)	UIMC1 (S364P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3062859	GRCh37/hg19 5q35.2(chr5:175822822-176520008)x1	CDHR2, CLTB +11 more	Copy number loss	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 2685186	GRCh37/hg19 5q35.2-35.3(chr5:175332333-177469711)x1	ARL10, B4GALT7 +38 more	Copy number loss	not provided	GPathogenic
Select item 2685184	GRCh37/hg19 5q35.1-35.2(chr5:171836503-176517734)x1	ARL10, ATP6V0E1 +37 more	Copy number loss	not provided	GPathogenic
Select item 2671584	Single allele	FAM193B, GPRIN1 +36 more	Deletion	not provided	GPathogenic
Select item 2664825	NM_001199298.2(UIMC1):c.1732del (p.His578fs)	UIMC1 (H412fs +1 more)	Deletion (frameshift variant +1 more)	Intellectual disability	GUncertain significance
Select item 2611794	NM_001199298.2(UIMC1):c.1887G>C (p.Leu629Phe)	UIMC1 (L463F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2587912	NM_001199298.2(UIMC1):c.1503C>G (p.Asn501Lys)	UIMC1 (N501K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2579264	GRCh38/hg38 5q35.2-35.3(chr5:176447531-177312407)x1	LOC129995352, LOC129995353 +65 more	Copy number loss	Sotos syndrome	GPathogenic
Select item 2465698	NM_001199298.2(UIMC1):c.719G>T (p.Gly240Val)	UIMC1 (G240V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2465669	NM_001199298.2(UIMC1):c.671C>G (p.Ser224Trp)	UIMC1 (S224W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458382	NM_001199298.2(UIMC1):c.278A>T (p.Glu93Val)	UIMC1 (E93V)	Single nucleotide variant (missense variant +1 more)	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 2424617	NC_000005.9:g.(?_176289625)_(177151363_?)del	B4GALT7, DBN1 +22 more	Deletion	Sotos syndrome	GPathogenic
Select item 2401963	NM_001199298.2(UIMC1):c.1202C>T (p.Ser401Phe)	UIMC1 (S235F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397735	NM_001199298.2(UIMC1):c.1607G>A (p.Arg536Gln)	UIMC1 (R370Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397650	NM_001199298.2(UIMC1):c.622G>T (p.Val208Leu)	UIMC1 (V208L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397578	NM_001199298.2(UIMC1):c.999G>T (p.Gln333His)	UIMC1 (Q333H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2397563	NM_001199298.2(UIMC1):c.1714T>G (p.Phe572Val)	UIMC1 (F406V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385064	NM_001199298.2(UIMC1):c.1742C>G (p.Ser581Cys)	UIMC1 (S415C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369173	NM_001199298.2(UIMC1):c.1756G>T (p.Ala586Ser)	UIMC1 (A420S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364980	NM_001199298.2(UIMC1):c.37G>A (p.Glu13Lys)	UIMC1 (E13K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349693	NM_001199298.2(UIMC1):c.1943C>G (p.Ala648Gly)	UIMC1 (A482G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311999	NM_001199298.2(UIMC1):c.1672G>A (p.Asp558Asn)	UIMC1 (D392N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311752	NM_001199298.2(UIMC1):c.413C>T (p.Pro138Leu)	UIMC1 (P138L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311573	NM_001199298.2(UIMC1):c.7C>T (p.Arg3Trp)	UIMC1 (R3W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295609	NM_001199298.2(UIMC1):c.587G>T (p.Gly196Val)	UIMC1 (G196V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273787	NM_001199298.2(UIMC1):c.724G>A (p.Ala242Thr)	UIMC1 (A242T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2268273	NM_001199298.2(UIMC1):c.295G>C (p.Val99Leu)	UIMC1 (V99L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243473	NM_001199298.2(UIMC1):c.1469A>G (p.Lys490Arg)	UIMC1 (K324R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209526	NM_001199298.2(UIMC1):c.1517C>T (p.Pro506Leu)	UIMC1 (P506L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1789075	NM_001199298.2(UIMC1):c.228C>T (p.Ile76=)	UIMC1	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign
Select item 1770419	NM_001199298.2(UIMC1):c.1344C>A (p.Thr448=)	UIMC1	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign
Select item 1735245	NM_001199298.2(UIMC1):c.381C>T (p.Ser127=)	UIMC1	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign
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 1707460	Single allele	CDHR2, EIF4E1B +71 more	Duplication	5q35 microduplication syndrome	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 1437053	NC_000005.9:g.(?_176047812)_(177422934_?)del	GRK6, HK3 +26 more	Deletion	Ehlers-Danlos syndrome progeroid type	GUncertain significance
Select item 1275697	NM_001199298.2(UIMC1):c.1304C>T (p.Pro435Leu)	UIMC1 (P269L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 979537	GRCh37/hg19 5q35.2-35.3(chr5:175394616-177436413)x3	ARL10, B4GALT7 +38 more	Copy number gain	not provided	GPathogenic
Select item 979536	GRCh37/hg19 5q35.2-35.3(chr5:175570677-177114151)x3	ARL10, B4GALT7 +34 more	Copy number gain	not provided	GPathogenic
Select item 975831	GRCh37/hg19 5q35.2-35.3(chr5:175346695-177469711)x1	CDHR2, CLTB +38 more	Copy number loss	Sotos syndrome	GPathogenic
Select item 690278	Single allele	UNC5A, ZNF346 +28 more	Deletion	Marfanoid habitus and intellectual disability	GLikely pathogenic
Select item 685440	GRCh37/hg19 5q35.2-35.3(chr5:175570677-177439550)x3	ARL10, B4GALT7 +36 more	Copy number gain	not provided	GPathogenic
Select item 626286	Single allele	ADAMTS2, B4GALT7 +80 more	Duplication	not provided	GLikely pathogenic
Select item 625704	GRCh37/hg19 5q35.2-35.3(chr5:176305543-177422876)	B4GALT7, DBN1 +23 more	Copy number gain	not provided	GPathogenic
Select item 625703	GRCh37/hg19 5q35.2-35.3(chr5:174990352-180690937)	ADAMTS2, ARL10 +90 more	Copy number gain	not provided	GPathogenic
Select item 563129	GRCh37/hg19 5q35.2-35.3(chr5:176044976-177023859)x1	DBN1, DDX41 +23 more	Copy number loss	not provided	GPathogenic
Select item 563128	GRCh37/hg19 5q35.2(chr5:175668563-176401296)x1	TSPAN17, EIF4E1B +14 more	Copy number loss	not provided	GUncertain significance
Select item 563126	GRCh37/hg19 5q35.2-35.3(chr5:175570677-177436413)x1	ARL10, B4GALT7 +36 more	Copy number loss	not provided	GPathogenic
Select item 563125	GRCh37/hg19 5q35.2-35.3(chr5:175438045-177481250)x1	ARL10, B4GALT7 +37 more	Copy number loss	not provided	GPathogenic
Select item 546991	NM_001199298.2(UIMC1):c.1677-1G>A	UIMC1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 443960	GRCh37/hg19 5q35.2-35.3(chr5:175570678-177437340)x1	ARL10, B4GALT7 +36 more	Copy number loss	See cases	GPathogenic
Select item 443249	GRCh37/hg19 5q35.2-35.3(chr5:175570677-177439550)x3	ARL10, B4GALT7 +36 more	Copy number gain	See cases	GPathogenic
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 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 442010	GRCh37/hg19 5q35.2-35.3(chr5:175438045-177392885)x1	ARL10, B4GALT7 +36 more	Copy number loss	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 437212	NM_001199298.2(UIMC1):c.1138T>C (p.Ser380Pro)	UIMC1 (S380P)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
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 394090	GRCh37/hg19 5q35.2-35.3(chr5:175722788-177423091)x3	ARL10, B4GALT7 +36 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 155396	GRCh38/hg38 5q35.2-35.3(chr5:176143674-178009412)x1	ARL10, B4GALT7 +141 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 154471	GRCh38/hg38 5q35.2-35.3(chr5:176517339-177709289)x1	B4GALT7, CDHR2 +113 more	Copy number loss	See cases	GPathogenic
Select item 154443	GRCh38/hg38 5q35.2-35.3(chr5:176132340-177995759)x1	ARL10, B4GALT7 +142 more	Copy number loss	See cases	GPathogenic
Select item 154297	GRCh38/hg38 5q35.2-35.3(chr5:175989092-178009412)x1	ARL10, B4GALT7 +145 more	Copy number loss	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 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 59634	GRCh38/hg38 5q35.2-35.3(chr5:176149599-177716401)x3	ARL10, B4GALT7 +137 more	Copy number gain	See cases	GPathogenic
Select item 59303	GRCh38/hg38 5q35.2-35.3(chr5:176152073-177646633)x1	ARL10, B4GALT7 +134 more	Copy number loss	See cases	GPathogenic
Select item 59302	GRCh38/hg38 5q35.2-35.3(chr5:176152073-177986213)x1	ARL10, B4GALT7 +140 more	Copy number loss	See cases	GPathogenic
Select item 59301	GRCh38/hg38 5q35.2-35.3(chr5:176115257-177646633)x1	LOC129995374, LOC129995375 +136 more	Copy number loss	See cases	GPathogenic

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