ClinVar for Gene (Select 29997) - ClinVar

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Links from Gene

Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3201248	NM_015710.5(NOP53):c.985G>A (p.Ala329Thr)	NOP53 (A329T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201247	NM_015710.5(NOP53):c.895G>A (p.Glu299Lys)	NOP53 (E299K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201246	NM_015710.5(NOP53):c.743A>G (p.Asn248Ser)	NOP53 (N248S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201245	NM_015710.5(NOP53):c.679C>T (p.Arg227Cys)	NOP53 (R227C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201244	NM_015710.5(NOP53):c.668A>G (p.Lys223Arg)	NOP53 (K223R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201243	NM_015710.5(NOP53):c.614C>G (p.Pro205Arg)	NOP53 (P205R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201242	NM_015710.5(NOP53):c.578A>T (p.Tyr193Phe)	NOP53 (Y193F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201241	NM_015710.5(NOP53):c.487C>T (p.Arg163Trp)	NOP53 (R163W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201240	NM_015710.5(NOP53):c.359T>C (p.Leu120Pro)	NOP53 (L120P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201239	NM_015710.5(NOP53):c.33G>T (p.Lys11Asn)	LOC130064829, NOP53 (K11N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201237	NM_015710.5(NOP53):c.1420C>T (p.Arg474Cys)	NOP53 (R474C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201236	NM_015710.5(NOP53):c.1412G>A (p.Arg471Gln)	NOP53 (R471Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201235	NM_015710.5(NOP53):c.1369G>A (p.Ala457Thr)	NOP53 (A457T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201234	NM_015710.5(NOP53):c.1356G>T (p.Glu452Asp)	NOP53 (E452D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201233	NM_015710.5(NOP53):c.1292T>G (p.Leu431Arg)	NOP53 (L431R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201232	NM_015710.5(NOP53):c.1265C>T (p.Ser422Leu)	NOP53 (S422L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201231	NM_015710.5(NOP53):c.1208C>T (p.Pro403Leu)	NOP53 (P403L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201230	NM_015710.5(NOP53):c.1183C>T (p.Arg395Trp)	NOP53 (R395W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201229	NM_015710.5(NOP53):c.1174C>T (p.Arg392Trp)	NOP53 (R392W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201228	NM_015710.5(NOP53):c.116G>C (p.Arg39Pro)	LOC130064829, NOP53 (R39P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201227	NM_015710.5(NOP53):c.1162C>T (p.Arg388Trp)	NOP53 (R388W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201226	NM_015710.5(NOP53):c.1142G>A (p.Arg381Lys)	NOP53 (R381K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201225	NM_015710.5(NOP53):c.1109G>A (p.Arg370Gln)	NOP53 (R370Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201224	NM_015710.5(NOP53):c.1075C>T (p.Arg359Trp)	NOP53 (R359W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201223	NM_015710.5(NOP53):c.1069G>A (p.Ala357Thr)	NOP53 (A357T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201222	NM_015710.5(NOP53):c.1054C>A (p.Arg352=)	NOP53	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3201221	NM_015710.5(NOP53):c.1031G>A (p.Arg344Gln)	NOP53 (R344Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201220	NM_015710.5(NOP53):c.1010A>C (p.Lys337Thr)	NOP53 (K337T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624106	NM_015710.5(NOP53):c.132G>C (p.Lys44Asn)	LOC130064829, NOP53 (K44N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616051	NM_015710.5(NOP53):c.688A>G (p.Thr230Ala)	NOP53 (T230A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608571	NM_015710.5(NOP53):c.686A>G (p.His229Arg)	NOP53 (H229R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598156	NM_015710.5(NOP53):c.1210C>G (p.Arg404Gly)	NOP53 (R404G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592566	NM_015710.5(NOP53):c.1204A>G (p.Lys402Glu)	NOP53 (K402E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592510	NM_015710.5(NOP53):c.389C>T (p.Ala130Val)	NOP53 (A130V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589258	NM_015710.5(NOP53):c.862G>A (p.Ala288Thr)	NOP53 (A288T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588965	NM_015710.5(NOP53):c.187T>C (p.Phe63Leu)	LOC130064829, NOP53 (F63L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579250	GRCh38/hg38 19q13.32-13.33(chr19:47257435-47886413)x1	BICRA, BICRA-AS2 +56 more	Copy number loss	Cone-rod dystrophy 2	GUncertain significance
Select item 2559240	NM_015710.5(NOP53):c.278C>G (p.Ser93Cys)	NOP53 (S93C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547040	NM_015710.5(NOP53):c.7G>A (p.Ala3Thr)	LOC130064829, NOP53 (A3T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541140	NM_015710.5(NOP53):c.5C>T (p.Ala2Val)	LOC130064829, NOP53 (A2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538975	NM_015710.5(NOP53):c.865A>C (p.Thr289Pro)	NOP53 (T289P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537724	NM_015710.5(NOP53):c.712G>A (p.Val238Met)	NOP53 (V238M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537309	NM_015710.5(NOP53):c.413A>G (p.Gln138Arg)	NOP53 (Q138R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532096	NM_015710.5(NOP53):c.406G>T (p.Ala136Ser)	NOP53 (A136S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526161	NM_015710.5(NOP53):c.482T>C (p.Leu161Pro)	NOP53 (L161P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525013	NM_015710.5(NOP53):c.704C>T (p.Ala235Val)	NOP53 (A235V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2521153	NM_015710.5(NOP53):c.454T>C (p.Trp152Arg)	NOP53 (W152R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518364	NM_015710.5(NOP53):c.1421G>A (p.Arg474His)	NOP53 (R474H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479305	NM_015710.5(NOP53):c.1187G>A (p.Arg396Gln)	NOP53 (R396Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468654	NM_015710.5(NOP53):c.439C>T (p.Arg147Trp)	NOP53 (R147W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457874	NM_015710.5(NOP53):c.722C>T (p.Ala241Val)	NOP53 (A241V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455298	NM_015710.5(NOP53):c.244C>G (p.Pro82Ala)	NOP53 (P82A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455055	NM_015710.5(NOP53):c.1091G>A (p.Arg364Gln)	NOP53 (R364Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	FUZ, GARIN5A +228 more	Copy number gain	not provided	Gnot provided
Select item 816088	GRCh37/hg19 19q13.33(chr19:48043102-48402210)x3	NOP53, EHD2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	CLDND2, IGSF23 +293 more	Copy number gain	not provided	GPathogenic
Select item 788027	NM_015710.5(NOP53):c.309C>G (p.Thr103=)	NOP53	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 715381	NM_015710.5(NOP53):c.789G>A (p.Glu263=)	NOP53	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 715380	NM_015710.5(NOP53):c.714G>A (p.Val238=)	NOP53	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688109	GRCh37/hg19 19q13.33(chr19:48119589-49595956)x3	BAX, BCAT2 +58 more	Copy number gain	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 625762	GRCh37/hg19 19q13.32-13.33(chr19:47036361-48525536)	AP2S1, ARHGAP35 +33 more	Copy number gain	not provided	GPathogenic
Select item 564586	GRCh37/hg19 19q13.33(chr19:48206212-48431087)x3	SULT2A1, NOP53 +5 more	Copy number gain	not provided	GUncertain significance
Select item 493601	GRCh37/hg19 19q13.33(chr19:48242225-48399399)x3	EHD2, NOP53 +4 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 441540	GRCh37/hg19 19q13.32-13.33(chr19:46404248-48488721)x1	AP2S1, ARHGAP35 +46 more	Copy number loss	See cases	GLikely pathogenic
Select item 221768	GRCh38/hg38 19q13.33(chr19:47559877-47778812)x1	BICRA, BICRA-AS2 +25 more	Copy number loss	Premature ovarian failure	GUncertain significance
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	PLA2G4C, PLA2G4C-AS1 +363 more	Copy number gain	See cases	GPathogenic
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	AP2S1, ARHGAP35 +290 more	Copy number gain	See cases	GPathogenic
Select item 58801	GRCh38/hg38 19q13.33(chr19:47751322-47767410)x3	LOC125371540, NOP53 +2 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Links from Gene

Items: 71