ClinVar for Gene (Select 8602) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3201199	NM_001291978.2(NOP14):c.947A>T (p.Asp316Val)	NOP14 (D316V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201198	NM_001291978.2(NOP14):c.836C>T (p.Ala279Val)	NOP14 (A279V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201197	NM_001291978.2(NOP14):c.557C>T (p.Pro186Leu)	NOP14 (P186L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201196	NM_001291978.2(NOP14):c.547C>T (p.Arg183Trp)	NOP14 (R183W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201195	NM_001291978.2(NOP14):c.38C>A (p.Ala13Asp)	NOP14 (A13D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201194	NM_001291978.2(NOP14):c.2469G>A (p.Met823Ile)	NOP14, NOP14-AS1 (M823I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201193	NM_001291978.2(NOP14):c.2392C>T (p.Arg798Cys)	NOP14, NOP14-AS1 (R798C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201192	NM_001291978.2(NOP14):c.2090G>A (p.Arg697His)	NOP14, NOP14-AS1 (R697H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201191	NM_001291978.2(NOP14):c.2015T>A (p.Leu672Gln)	NOP14, NOP14-AS1 (L672Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201189	NM_001291978.2(NOP14):c.152A>T (p.Asp51Val)	NOP14 (D51V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201188	NM_001291978.2(NOP14):c.1384C>G (p.Leu462Val)	NOP14, NOP14-AS1 (L462V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201187	NM_001291978.2(NOP14):c.1357A>G (p.Arg453Gly)	NOP14, NOP14-AS1 (R453G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201186	NM_001291978.2(NOP14):c.1255A>G (p.Arg419Gly)	NOP14, NOP14-AS1 (R419G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3201185	NM_001291978.2(NOP14):c.1252A>G (p.Thr418Ala)	NOP14, NOP14-AS1 (T418A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3201184	NM_001291978.2(NOP14):c.1151C>G (p.Ser384Cys)	NOP14, NOP14-AS1 (S384C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201183	NM_001291978.2(NOP14):c.1099G>C (p.Gly367Arg)	NOP14, NOP14-AS1 (G367R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3062809	GRCh37/hg19 4p16.3(chr4:68346-3122209)x1	ADD1, ATP5ME +46 more	Copy number loss	not specified	GPathogenic
Select item 3062783	GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	ABLIM2, ACOX3 +140 more	Copy number loss	not specified	GPathogenic
Select item 3062781	GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1	ABLIM2, ACOX3 +120 more	Copy number loss	not specified	GPathogenic
Select item 3062779	GRCh37/hg19 4p16.3-16.2(chr4:68345-4611819)x1	ADD1, ADRA2C +58 more	Copy number loss	not specified	GPathogenic
Select item 3062771	GRCh37/hg19 4p16.3-16.1(chr4:68345-7923907)x1	ADD1, ADRA2C +82 more	Copy number loss	not specified	GPathogenic
Select item 3062770	GRCh37/hg19 4p16.3(chr4:68345-3510024)x1	ADD1, ATP5ME +51 more	Copy number loss	not specified	GPathogenic
Select item 3062759	GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	ABLIM2, ACOX3 +143 more	Copy number loss	not specified	GPathogenic
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3024912	NM_001291978.2(NOP14):c.1478C>G (p.Thr493Arg)	LOC126806948, NOP14 +1 more (T493R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3024630	GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1	JAKMIP1, KIAA0232 +117 more	Copy number loss	not provided	GPathogenic
Select item 2685956	GRCh37/hg19 4p16.3(chr4:2841240-3197933)x3	ADD1, GRK4 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2685952	GRCh37/hg19 4p16.3-16.1(chr4:68346-7171784)x3	ADD1, ADRA2C +79 more	Copy number gain	not provided	GPathogenic
Select item 2623090	NM_001291978.2(NOP14):c.219G>C (p.Glu73Asp)	NOP14 (E73D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600339	NM_001291978.2(NOP14):c.1733C>T (p.Thr578Ile)	NOP14, NOP14-AS1 (T578I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594410	NM_001291978.2(NOP14):c.2102T>C (p.Met701Thr)	NOP14, NOP14-AS1 (M701T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588864	NM_001291978.2(NOP14):c.89A>G (p.Asn30Ser)	NOP14 (N30S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2583026	GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1	ABLIM2, ACOX3 +132 more	Copy number loss	not provided	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2574695	GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	ABLIM2, ACOX3 +162 more	Copy number gain	4p16.3 microduplication syndrome	GPathogenic
Select item 2570070	NM_001291978.2(NOP14):c.1121A>G (p.Asp374Gly)	NOP14, NOP14-AS1 (D374G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562790	NM_001291978.2(NOP14):c.473C>T (p.Ala158Val)	NOP14 (A158V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553921	NM_001291978.2(NOP14):c.16A>G (p.Lys6Glu)	NOP14 (K6E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540920	NM_001291978.2(NOP14):c.1099G>A (p.Gly367Arg)	NOP14, NOP14-AS1 (G367R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2540705	NM_001291978.2(NOP14):c.964G>A (p.Val322Met)	NOP14 (V322M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507508	NM_001291978.2(NOP14):c.19G>C (p.Val7Leu)	NOP14 (V7L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496125	NM_001291978.2(NOP14):c.1741C>T (p.Pro581Ser)	NOP14, NOP14-AS1 (P581S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482706	NM_001291978.2(NOP14):c.2401A>G (p.Lys801Glu)	NOP14, NOP14-AS1 (K801E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463602	NM_001291978.2(NOP14):c.565C>T (p.Arg189Trp)	NOP14 (R189W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454826	NM_001291978.2(NOP14):c.1105G>A (p.Asp369Asn)	NOP14, NOP14-AS1 (D369N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424606	NC_000004.11:g.(?_493125)_(3495228_?)dup	GRK4, HAUS3 +46 more	Duplication	Fibrous dysplasia of jaw	GUncertain significance
Select item 2412308	NM_001291978.2(NOP14):c.1610G>A (p.Arg537Gln)	NOP14, NOP14-AS1 (R537Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404862	NM_001291978.2(NOP14):c.445G>A (p.Asp149Asn)	NOP14 (D149N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403759	NM_001291978.2(NOP14):c.22G>C (p.Gly8Arg)	NOP14 (G8R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399796	NM_001291978.2(NOP14):c.2245C>T (p.Leu749Phe)	NOP14, NOP14-AS1 (L749F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2396961	NM_001291978.2(NOP14):c.2251C>T (p.Arg751Trp)	NOP14, NOP14-AS1 (R751W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385076	NM_001291978.2(NOP14):c.1919C>T (p.Ala640Val)	NOP14, NOP14-AS1 (A640V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376672	NM_001291978.2(NOP14):c.1031T>G (p.Val344Gly)	NOP14, NOP14-AS1 (V344G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2374239	NM_001291978.2(NOP14):c.1379C>T (p.Pro460Leu)	NOP14, NOP14-AS1 (P460L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371623	NM_001291978.2(NOP14):c.797C>T (p.Ala266Val)	NOP14 (A266V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356191	NM_001291978.2(NOP14):c.2491C>T (p.Arg831Trp)	NOP14, NOP14-AS1 (R831W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354306	NM_001291978.2(NOP14):c.2323G>A (p.Glu775Lys)	NOP14, NOP14-AS1 (E775K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350077	NM_001291978.2(NOP14):c.772C>T (p.Arg258Cys)	NOP14 (R258C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345261	NM_001291978.2(NOP14):c.2480C>T (p.Ala827Val)	NOP14, NOP14-AS1 (A827V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344827	NM_001291978.2(NOP14):c.1571C>G (p.Ala524Gly)	NOP14, NOP14-AS1 (A524G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334722	NM_001291978.2(NOP14):c.1658G>A (p.Gly553Glu)	NOP14, NOP14-AS1 (G553E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323262	NM_001291978.2(NOP14):c.1228G>A (p.Gly410Ser)	NOP14, NOP14-AS1 (G410S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308965	NM_001291978.2(NOP14):c.169G>A (p.Val57Met)	NOP14 (V57M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298845	NM_001291978.2(NOP14):c.371A>G (p.Asp124Gly)	NOP14 (D124G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293964	NM_001291978.2(NOP14):c.964G>C (p.Val322Leu)	NOP14 (V322L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284714	NM_001291978.2(NOP14):c.1397A>T (p.Asn466Ile)	NOP14, NOP14-AS1 (N466I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279513	NM_001291978.2(NOP14):c.2134A>G (p.Met712Val)	NOP14, NOP14-AS1 (M712V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2264324	NM_001291978.2(NOP14):c.1229G>T (p.Gly410Val)	NOP14, NOP14-AS1 (G410V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259692	NM_001291978.2(NOP14):c.1107C>G (p.Asp369Glu)	NOP14, NOP14-AS1 (D369E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259691	NM_001291978.2(NOP14):c.1106A>G (p.Asp369Gly)	NOP14, NOP14-AS1 (D369G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258571	NM_001291978.2(NOP14):c.2422C>T (p.Arg808Cys)	NOP14, NOP14-AS1 (R808C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257905	NM_001291978.2(NOP14):c.2492G>A (p.Arg831Gln)	NOP14, NOP14-AS1 (R831Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253117	NM_001291978.2(NOP14):c.2185C>G (p.Pro729Ala)	NOP14, NOP14-AS1 (P729A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248927	NM_001291978.2(NOP14):c.2273G>C (p.Ser758Thr)	NOP14, NOP14-AS1 (S758T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232612	NM_001291978.2(NOP14):c.769G>A (p.Val257Ile)	NOP14 (V257I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210305	NM_001291978.2(NOP14):c.2224G>A (p.Glu742Lys)	NOP14, NOP14-AS1 (E742K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808621	GRCh37/hg19 4p16.3-15.33(chr4:1-12785001)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1808552	GRCh37/hg19 4p16.3-15.33(chr4:68346-12369983)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1808376	GRCh37/hg19 4p16.3(chr4:2906453-3225478)x3	ADD1, GRK4 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1707444	GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1	ABLIM2, ACOX3 +143 more	Copy number loss	See cases	GPathogenic
Select item 1707423	GRCh37/hg19 4p16.3-16.2(chr4:68345-5579467)x1	ADD1, ADRA2C +63 more	Copy number loss	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 1421534	NC_000004.11:g.(?_493125)_(3495228_?)del	IDUA, LETM1 +46 more	Deletion	Fibrous dysplasia of jaw	GUncertain significance
Select item 1374044	NC_000004.11:g.(?_2822345)_(3495228_?)dup	ADD1, DOK7 +8 more	Duplication	not provided	GUncertain significance
Select item 1341125	GRCh37/hg19 4p16.3(chr4:2930651-3362806)x3	ADD1, GRK4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1341071	GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1	HGFAC, UVSSA +141 more	Copy number loss	not provided	GPathogenic
Select item 1180546	GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3	CRMP1, RNF212 +161 more	Copy number gain	not provided	GPathogenic
Select item 1180545	GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1	RGS12, RNF212 +140 more	Copy number loss	not provided	GPathogenic
Select item 1073308	NC_000004.11:g.(?_2200251)_(5710240_?)del	ADRA2C, CYTL1 +28 more	Deletion	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 1047903	GRCh37/hg19 4p16.3(chr4:388344-3872380)	HGFAC, HTT +48 more	Copy number loss	Generalized hypotonia +2 more	GPathogenic
Select item 979468	GRCh37/hg19 4p16.3-16.2(chr4:68345-5831521)x1	ZFYVE28, CRMP1 +65 more	Copy number loss	not provided	GPathogenic
Select item 979467	GRCh37/hg19 4p16.3-16.2(chr4:68345-5046326)x1	HGFAC, NOP14 +60 more	Copy number loss	not provided	GPathogenic
Select item 979457	GRCh37/hg19 4p16.3(chr4:1941633-3879802)x1	RGS12, LRPAP1 +21 more	Copy number loss	not provided	GPathogenic
Select item 977788	GRCh37/hg19 4p16.3-16.1(chr4:2909440-6871516)	PPP2R2C, RGS12 +32 more	Copy number loss	microdeletion 4p16.3p16.1	GLikely pathogenic
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 816497	GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1	ADD1, ABLIM2 +146 more	Copy number loss	See cases	GPathogenic
Select item 814524	GRCh37/hg19 4p16.3-16.1(chr4:68345-10312798)x1	ABLIM2, ACOX3 +114 more	Copy number loss	not provided	GPathogenic

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