ClinVar for Gene (Select 10636) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338422	Single allele	F12, FGFR4 +34 more	Duplication	Russell-Silver syndrome	GPathogenic
Select item 3314097	NM_006480.5(RGS14):c.1004G>A (p.Arg335Gln)	RGS14 (R335Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314096	NM_006480.5(RGS14):c.380C>G (p.Ser127Cys)	RGS14 (S127C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314094	NM_006480.5(RGS14):c.1172A>G (p.Lys391Arg)	RGS14 (K392R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314093	NM_006480.5(RGS14):c.546G>C (p.Glu182Asp)	RGS14 (E182D)	Single nucleotide variant (missense variant)	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 3153841	NM_006480.5(RGS14):c.94G>T (p.Gly32Cys)	RGS14 (G32C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153840	NM_006480.5(RGS14):c.779C>T (p.Ser260Phe)	RGS14 (S260F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153839	NM_006480.5(RGS14):c.41G>T (p.Arg14Leu)	RGS14 (R14L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153838	NM_006480.5(RGS14):c.418G>A (p.Ala140Thr)	RGS14 (A140T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153837	NM_006480.5(RGS14):c.173A>G (p.Glu58Gly)	RGS14 (E58G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153836	NM_006480.5(RGS14):c.172G>A (p.Glu58Lys)	RGS14 (E58K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153835	NM_006480.5(RGS14):c.1364A>G (p.Lys455Arg)	RGS14 (K456R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153834	NM_006480.5(RGS14):c.1283G>A (p.Gly428Glu)	RGS14 (G429E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3153833	NM_006480.5(RGS14):c.1213G>A (p.Glu405Lys)	RGS14 (E406K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153832	NM_006480.5(RGS14):c.1156G>A (p.Val386Ile)	RGS14 (V387I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153831	NM_006480.5(RGS14):c.1117A>G (p.Ile373Val)	RGS14 (I374V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153829	NM_006480.5(RGS14):c.1013C>G (p.Ser338Cys)	RGS14 (S338C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062847	GRCh37/hg19 5q35.3(chr5:176744569-177107777)x3	B4GALT7, DBN1 +12 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 2685186	GRCh37/hg19 5q35.2-35.3(chr5:175332333-177469711)x1	ARL10, B4GALT7 +38 more	Copy number loss	not provided	GPathogenic
Select item 2671584	Single allele	FAM193B, GPRIN1 +36 more	Deletion	not provided	GPathogenic
Select item 2569119	NM_006480.5(RGS14):c.1685C>T (p.Thr562Ile)	RGS14 (T562I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510685	NM_006480.5(RGS14):c.1175C>G (p.Pro392Arg)	RGS14 (P393R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510355	NM_006480.5(RGS14):c.41G>A (p.Arg14His)	RGS14 (R14H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490161	NM_006480.5(RGS14):c.707G>A (p.Gly236Glu)	RGS14 (G236E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488480	NM_006480.5(RGS14):c.1417C>T (p.His473Tyr)	RGS14 (H473Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487421	NM_006480.5(RGS14):c.880G>T (p.Gly294Cys)	RGS14 (G294C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475694	NM_006480.5(RGS14):c.743T>G (p.Leu248Arg)	RGS14 (L248R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475693	NM_006480.5(RGS14):c.742C>G (p.Leu248Val)	RGS14 (L248V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470413	NM_006480.5(RGS14):c.658C>T (p.Pro220Ser)	RGS14 (P220S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460749	NM_006480.5(RGS14):c.659C>T (p.Pro220Leu)	RGS14 (P220L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426758	NC_000005.9:g.(?_176618865)_(177036696_?)dup	B4GALT7, DBN1 +16 more	Duplication	Sotos syndrome	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 2410419	NM_006480.5(RGS14):c.1178C>G (p.Thr393Ser)	RGS14 (T393S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401311	NM_006480.5(RGS14):c.1069C>G (p.Gln357Glu)	RGS14 (Q357E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400096	NM_006480.5(RGS14):c.1621G>C (p.Glu541Gln)	RGS14 (E541Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2399995	NM_006480.5(RGS14):c.1642A>G (p.Lys548Glu)	RGS14 (K548E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2396023	NM_006480.5(RGS14):c.1604C>T (p.Ala535Val)	RGS14 (A535V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381832	NM_006480.5(RGS14):c.1430C>T (p.Ala477Val)	RGS14 (A477V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2273979	NM_006480.5(RGS14):c.103G>A (p.Glu35Lys)	RGS14 (E35K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227910	NM_006480.5(RGS14):c.1282G>A (p.Gly428Arg)	RGS14 (G428R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220387	NM_006480.5(RGS14):c.1081G>A (p.Val361Met)	RGS14 (V361M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212390	NM_006480.5(RGS14):c.1438A>G (p.Ser480Gly)	RGS14 (S481G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 1807957	GRCh37/hg19 5q35.3(chr5:176616151-177107778)x3	B4GALT7, DBN1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 1807876	GRCh37/hg19 5q35.3(chr5:176718361-176957659)x3	DBN1, DDX41 +14 more	Copy number gain	not provided	GUncertain significance
Select item 1807722	GRCh37/hg19 5q35.2-35.3(chr5:176547912-177126647)x3	B4GALT7, DBN1 +16 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 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 1340213	GRCh37/hg19 5q35.2-35.3(chr5:176497464-177776599)x3	B4GALT7, COL23A1 +25 more	Copy number gain	not provided	GLikely pathogenic
Select item 1235110	NC_000005.10:g.177357511G>A	RGS14	Single nucleotide variant	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	SLC34A1, THOC3 +38 more	Copy number loss	Sotos syndrome	GPathogenic
Select item 769674	NM_006480.5(RGS14):c.1621G>A (p.Glu541Lys)	RGS14 (E541K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 690278	Single allele	UNC5A, ZNF346 +28 more	Deletion	Marfanoid habitus and intellectual disability	GLikely pathogenic
Select item 687644	GRCh37/hg19 5q35.3(chr5:176774402-177064884)x4	B4GALT7, DBN1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 685882	GRCh37/hg19 5q35.3(chr5:176643613-179085551)x3	COL23A1, ADAMTS2 +36 more	Copy number gain	not provided	GUncertain significance
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 684934	GRCh37/hg19 5q35.3(chr5:176732536-177260046)x1	B4GALT7, DBN1 +15 more	Copy number loss	not provided	GUncertain significance
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 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 560112	Single allele	B4GALT7, DBN1 +13 more	Duplication	not provided	GUncertain significance
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 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 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 152817	GRCh38/hg38 5q35.3(chr5:177118445-177374609)x3	LMAN2, LOC121099716 +26 more	Copy number gain	See cases	GLikely pathogenic
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 149867	GRCh38/hg38 5q35.3(chr5:177261458-177651722)x3	B4GALT7, DBN1 +65 more	Copy number gain	See cases	GUncertain significance
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
Select item 59300	GRCh38/hg38 5q35.2-35.3(chr5:176043476-177995759)x1	ARL10, B4GALT7 +145 more	Copy number loss	See cases	GPathogenic

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