"GeneDx"[submitter] AND "UPF3B"[gene] - ClinVar

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Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145168	GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	LOC125467786, LOC125467787 +1203 more	Copy number loss	See cases	GPathogenic
Select item 58661	GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3	LOC126863293, LOC126863294 +478 more	Copy number gain	See cases	GPathogenic
Select item 1218420	NM_080632.3(UPF3B):c.1405A>G (p.Lys469Glu)	UPF3B (K456E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372474	NM_080632.3(UPF3B):c.1346G>A (p.Arg449Gln)	UPF3B (R436Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 670829	NM_080632.3(UPF3B):c.1303-85T>G	UPF3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281706	NM_080632.3(UPF3B):c.1302+281G>A	UPF3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229607	NM_080632.3(UPF3B):c.1302+122dup	UPF3B	Duplication (intron variant)	not provided	GBenign
Select item 1188326	NM_080632.3(UPF3B):c.1302+122_1302+123dup	UPF3B	Duplication (intron variant)	not provided	GLikely benign
Select item 1259359	NM_080632.3(UPF3B):c.1302+141del	UPF3B	Deletion (intron variant)	not provided	GBenign
Select item 11400	NM_080632.3(UPF3B):c.1288C>T (p.Arg430Ter)	UPF3B (R430* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 420716	NM_080632.3(UPF3B):c.1286A>G (p.Asp429Gly)	UPF3B (D429G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1701844	NM_080632.3(UPF3B):c.1265AAG[2] (p.Glu424del)	UPF3B (E411del +1 more)	Microsatellite (inframe_deletion)	Neurodevelopmental disorder +1 more	GUncertain significance
Select item 1190148	NM_080632.3(UPF3B):c.1235C>T (p.Ser412Leu)	UPF3B (S399L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2572924	NM_080632.3(UPF3B):c.1211G>T (p.Gly404Val)	UPF3B (G391V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 449270	NM_080632.3(UPF3B):c.1189A>G (p.Lys397Glu)	UPF3B (K397E +1 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 14 +1 more	GUncertain significance
Select item 1809983	NM_080632.3(UPF3B):c.1178T>C (p.Met393Thr)	UPF3B (M380T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430883	NM_080632.3(UPF3B):c.1157_1158del (p.Thr385_Phe386insTer)	UPF3B	Deletion (nonsense)	not provided	GPathogenic
Select item 212546	NM_080632.3(UPF3B):c.1121G>A (p.Arg374His)	UPF3B (R374H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1704989	NM_080632.3(UPF3B):c.1107AGA[2] (p.Glu372del)	UPF3B (E359del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 513888	NM_080632.3(UPF3B):c.1104G>A (p.Arg368=)	UPF3B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2430487	NM_080632.3(UPF3B):c.1091_1094del (p.Glu364fs)	UPF3B (E351fs +1 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1342827	NM_080632.3(UPF3B):c.1087A>G (p.Arg363Gly)	UPF3B (R350G +1 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 14 +2 more	GConflicting classifications of pathogenicity
Select item 3368866	NM_080632.3(UPF3B):c.1036A>T (p.Arg346Trp)	UPF3B (R333W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1212945	NM_080632.3(UPF3B):c.1007+27G>C	UPF3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 423278	NM_080632.3(UPF3B):c.1006A>G (p.Arg336Gly)	UPF3B (R336G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306567	NM_080632.3(UPF3B):c.982G>A (p.Glu328Lys)	UPF3B (E315K +1 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 14 +1 more	GUncertain significance
Select item 1710635	NM_080632.3(UPF3B):c.937A>G (p.Arg313Gly)	UPF3B (R300G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2579943	NM_080632.3(UPF3B):c.932A>G (p.Asp311Gly)	UPF3B (D298G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343781	NM_080632.3(UPF3B):c.893G>C (p.Arg298Thr)	UPF3B (R285T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 384722	NM_080632.3(UPF3B):c.883T>C (p.Leu295=)	UPF3B	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability 14 +2 more	GBenign/Likely benign
Select item 2499273	NM_080632.3(UPF3B):c.869G>A (p.Gly290Glu)	UPF3B (G277E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 684056	NM_080632.3(UPF3B):c.847-292T>C	UPF3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673766	NM_080632.3(UPF3B):c.846+102T>G	UPF3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257406	NM_080632.3(UPF3B):c.807+120G>C	UPF3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1029871	NM_080632.3(UPF3B):c.763A>G (p.Arg255Gly)	UPF3B (R255G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 284394	NM_080632.3(UPF3B):c.758T>C (p.Ile253Thr)	UPF3B (I253T)	Single nucleotide variant (missense variant)	Cataract +4 more	GConflicting classifications of pathogenicity
Select item 3340750	NM_080632.3(UPF3B):c.756G>T (p.Lys252Asn)	UPF3B (K252N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311996	NM_080632.3(UPF3B):c.727A>G (p.Lys243Glu)	UPF3B (K243E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 420043	NM_080632.3(UPF3B):c.697_698del (p.Arg233fs)	UPF3B (R233fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 429957	NM_080632.3(UPF3B):c.690_697del (p.Arg233fs)	UPF3B (R233fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1312407	NM_080632.3(UPF3B):c.696G>T (p.Glu232Asp)	UPF3B (E232D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1199884	NM_080632.3(UPF3B):c.684_687del (p.Arg229fs)	UPF3B (R229fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 198608	NM_080632.3(UPF3B):c.674_677del (p.Arg225fs)	UPF3B (R225fs)	Microsatellite (frameshift variant)	Syndromic X-linked intellectual disability 14 +1 more	GPathogenic
Select item 1196751	NM_080632.3(UPF3B):c.581-41G>A	UPF3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204134	NM_080632.3(UPF3B):c.580+235G>A	UPF3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296207	NM_080632.3(UPF3B):c.580+177G>A	UPF3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260922	NM_080632.3(UPF3B):c.580+127T>A	UPF3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202252	NM_080632.3(UPF3B):c.580+118T>C	UPF3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3371715	NM_080632.3(UPF3B):c.512A>T (p.Asn171Ile)	UPF3B (N171I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1801178	NM_080632.3(UPF3B):c.506C>T (p.Thr169Ile)	UPF3B (T169I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504551	NM_080632.3(UPF3B):c.470-5_470-2del	UPF3B	Deletion (splice acceptor variant)	not provided	GUncertain significance
Select item 1209266	NM_080632.3(UPF3B):c.470-53_470-51del	UPF3B	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1292633	NM_080632.3(UPF3B):c.470-67G>A	UPF3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673765	NM_080632.3(UPF3B):c.470-68T>C	UPF3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268206	NM_080632.3(UPF3B):c.371-58A>G	UPF3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267194	NM_080632.3(UPF3B):c.371-276G>A	UPF3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1298177	NM_080632.3(UPF3B):c.370+167_370+169del	UPF3B	Microsatellite (intron variant)	not provided	GBenign
Select item 675717	NM_080632.3(UPF3B):c.370+63C>T	UPF3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268582	NM_080632.3(UPF3B):c.370+36T>A	UPF3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 506445	NM_080632.3(UPF3B):c.352G>A (p.Val118Ile)	UPF3B (V118I)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 451790	NM_080632.3(UPF3B):c.283G>A (p.Ala95Thr)	UPF3B (A95T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308963	NM_080632.3(UPF3B):c.272C>T (p.Pro91Leu)	UPF3B (P91L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 670475	NM_080632.3(UPF3B):c.264-34G>A	UPF3B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1229980	NM_080632.3(UPF3B):c.264-65A>G	UPF3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2446159	NM_080632.3(UPF3B):c.159_160delinsTAC (p.Val54fs)	UPF3B (V54fs)	Indel (frameshift variant)	not provided	GPathogenic
Select item 1244521	NM_080632.3(UPF3B):c.157-189dup	UPF3B	Duplication (intron variant)	not provided	GBenign
Select item 3370086	NM_080632.3(UPF3B):c.56C>G (p.Pro19Arg)	UPF3B (P19R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 367732	NM_080632.3(UPF3B):c.-13G>C	LOC130068620, UPF3B	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
Select item 670828	NM_080632.1(UPF3B):c.-160C>T	UPF3B	Single nucleotide variant	not provided	GBenign
Select item 684051	NM_080632.1(UPF3B):c.-286A>G	UPF3B	Single nucleotide variant	not provided	GBenign
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253616	GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253572	GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic

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Items: 85