UPF3B[gene] and "single gene"[properties] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 263

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2499151	NC_000023.11:g.119815258C>T	UPF3B	Single nucleotide variant (genic downstream transcript variant)	not provided	GLikely benign
Select item 2661302	NC_000023.11:g.119815271G>C	UPF3B	Single nucleotide variant (genic downstream transcript variant)	not provided	GLikely benign
Select item 2661303	NC_000023.11:g.119831544C>A	UPF3B	Single nucleotide variant (genic downstream transcript variant)	not provided	GLikely benign
Select item 3344600	NM_080632.3(UPF3B):c.*7C>A	UPF3B	Single nucleotide variant (3 prime UTR variant)	UPF3B-related disorder	GLikely benign
Select item 2818848	NM_080632.3(UPF3B):c.1440A>G (p.Gly480=)	UPF3B	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability 14	GLikely benign
Select item 986262	NM_080632.3(UPF3B):c.1421T>A (p.Ile474Asn)	UPF3B (I461N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3014425	NM_080632.3(UPF3B):c.1383dup (p.Gly462fs)	UPF3B (G462fs +1 more)	Duplication (frameshift variant)	Syndromic X-linked intellectual disability 14	GUncertain significance
Select item 2661304	NM_080632.3(UPF3B):c.1380G>C (p.Lys460Asn)	UPF3B (K447N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2635742	NM_080632.3(UPF3B):c.1372A>G (p.Ser458Gly)	UPF3B (S445G +1 more)	Single nucleotide variant (missense variant)	UPF3B-related disorder +1 more	GUncertain significance
Select item 1940279	NM_080632.3(UPF3B):c.1352G>A (p.Arg451Gln)	UPF3B (R451Q +1 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 14	GUncertain significance
Select item 488634	NM_080632.3(UPF3B):c.1351del (p.Arg451fs)	UPF3B (R451fs +1 more)	Deletion (frameshift variant)	Syndromic X-linked intellectual disability 14	GPathogenic
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 1770075	NM_080632.3(UPF3B):c.1329A>G (p.Gln443=)	UPF3B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2884552	NM_080632.3(UPF3B):c.1303-19A>G	UPF3B	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability 14	GLikely benign
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 1587318	NM_080632.3(UPF3B):c.1302+8T>C	UPF3B	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability 14 +1 more	GBenign/Likely benign
Select item 1351231	NM_080632.3(UPF3B):c.1302+6G>A	UPF3B	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability 14	GUncertain significance
Select item 2661305	NM_080632.3(UPF3B):c.1289G>A (p.Arg430Gln)	UPF3B (R417Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336057	NM_080632.3(UPF3B):c.1288C>A (p.Arg430=)	UPF3B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 444823	NM_080632.3(UPF3B):c.1275G>C (p.Val425=)	UPF3B	Single nucleotide variant (synonymous 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 3336985	NM_080632.3(UPF3B):c.1266_1269del (p.Glu423fs)	UPF3B (E410fs +1 more)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 2040802	NM_080632.3(UPF3B):c.1264_1266del (p.Lys422del)	UPF3B (K422del +1 more)	Deletion (inframe_deletion)	Syndromic X-linked intellectual disability 14	GUncertain significance
Select item 2661306	NM_080632.3(UPF3B):c.1263_1265del (p.Lys422del)	UPF3B (K409del +1 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1763970	NM_080632.3(UPF3B):c.1265A>G (p.Lys422Arg)	UPF3B (K422R +1 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 14 +1 more	GUncertain significance
Select item 697581	NM_080632.3(UPF3B):c.1260A>G (p.Glu420=)	UPF3B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 588932	NM_080632.3(UPF3B):c.1260A>C (p.Glu420Asp)	UPF3B (E420D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2032196	NM_080632.3(UPF3B):c.1255dup (p.Thr419fs)	UPF3B (T406fs +1 more)	Duplication (frameshift variant)	Syndromic X-linked intellectual disability 14	GUncertain significance
Select item 2316209	NM_080632.3(UPF3B):c.1243A>G (p.Ser415Gly)	UPF3B (S402G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 2630272	NM_080632.3(UPF3B):c.1230A>G (p.Thr410=)	UPF3B	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability 14 +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 581972	NM_080632.3(UPF3B):c.1202G>A (p.Arg401Gln)	UPF3B (R401Q +1 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 14	GUncertain significance
Select item 1601042	NM_080632.3(UPF3B):c.1201C>T (p.Arg401Trp)	UPF3B (R388W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2898772	NM_080632.3(UPF3B):c.1197A>G (p.Thr399=)	UPF3B	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability 14	GBenign
Select item 1919245	NM_080632.3(UPF3B):c.1196C>T (p.Thr399Ile)	UPF3B (T399I +1 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 14	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 2140595	NM_080632.3(UPF3B):c.1168GAA[2] (p.Glu392del)	UPF3B (E392del +1 more)	Microsatellite (inframe_deletion)	Syndromic X-linked intellectual disability 14	GUncertain significance
Select item 992291	NM_080632.3(UPF3B):c.1174G>T (p.Glu392Ter)	UPF3B (E379* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1699417	NM_080632.3(UPF3B):c.1166_1167del (p.Lys389fs)	UPF3B (K376fs +1 more)	Deletion (frameshift variant)	Syndromic X-linked intellectual disability 14	GPathogenic
Select item 2430883	NM_080632.3(UPF3B):c.1157_1158del (p.Thr385_Phe386insTer)	UPF3B	Deletion (nonsense)	not provided	GPathogenic
Select item 1554503	NM_080632.3(UPF3B):c.1158T>C (p.Phe386=)	UPF3B	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability 14	GLikely benign
Select item 871633	NM_080632.3(UPF3B):c.1149_1150del (p.Lys384fs)	UPF3B (K371fs +1 more)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 1733008	NM_080632.3(UPF3B):c.1148A>T (p.Glu383Val)	UPF3B (E370V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1804141	NM_080632.3(UPF3B):c.1147G>T (p.Glu383Ter)	UPF3B (E370* +1 more)	Single nucleotide variant (nonsense)	Syndromic X-linked intellectual disability 14	GLikely pathogenic
Select item 1597732	NM_080632.3(UPF3B):c.1136G>A (p.Arg379His)	UPF3B (R366H +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 212546	NM_080632.3(UPF3B):c.1121G>A (p.Arg374His)	UPF3B (R374H +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2143484	NM_080632.3(UPF3B):c.1120C>T (p.Arg374Cys)	UPF3B (R361C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 547850	NM_080632.3(UPF3B):c.1118G>A (p.Arg373His)	UPF3B (R373H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1560636	NM_080632.3(UPF3B):c.1117C>T (p.Arg373Cys)	UPF3B (R360C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
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 2149414	NM_080632.3(UPF3B):c.1103G>A (p.Arg368Gln)	UPF3B (R355Q +1 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 14	GUncertain significance
Select item 1041099	NM_080632.3(UPF3B):c.1102C>T (p.Arg368Trp)	UPF3B (R355W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 804079	NM_080632.3(UPF3B):c.1101G>C (p.Lys367Asn)	UPF3B (K354N +1 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 14	GBenign/Likely 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 743409	NM_080632.3(UPF3B):c.1092G>A (p.Glu364=)	UPF3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3186787	NM_080632.3(UPF3B):c.1090G>A (p.Glu364Lys)	UPF3B (E364K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1981929	NM_080632.3(UPF3B):c.1075A>G (p.Ile359Val)	UPF3B (I359V +1 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 14	GUncertain significance
Select item 437213	NM_080632.3(UPF3B):c.1073G>A (p.Arg358His)	UPF3B (R358H +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 700934	NM_080632.3(UPF3B):c.1072C>T (p.Arg358Cys)	UPF3B (R345C +1 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 14	GBenign
Select item 3337731	NM_080632.3(UPF3B):c.1069G>A (p.Glu357Lys)	UPF3B (E344K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 981402	NM_080632.3(UPF3B):c.1060C>T (p.Arg354Ter)	UPF3B (R341* +1 more)	Single nucleotide variant (nonsense)	Syndromic X-linked intellectual disability 14 +1 more	GLikely pathogenic
Select item 1954813	NM_080632.3(UPF3B):c.1052A>G (p.Glu351Gly)	UPF3B (E338G +1 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 14	GUncertain significance
Select item 1469888	NM_080632.3(UPF3B):c.1049G>A (p.Arg350Gln)	UPF3B (R337Q +1 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 14	GUncertain significance
Select item 2181504	NM_080632.3(UPF3B):c.1048C>T (p.Arg350Trp)	UPF3B (R337W +1 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 14	GUncertain significance
Select item 2661307	NM_080632.3(UPF3B):c.1044G>A (p.Arg348=)	UPF3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 871634	NM_080632.3(UPF3B):c.1035T>C (p.Tyr345=)	UPF3B	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability 14 +1 more	GLikely benign
Select item 807807	NM_080632.3(UPF3B):c.1030G>A (p.Asp344Asn)	UPF3B (D331N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3020225	NM_080632.3(UPF3B):c.1024G>A (p.Gly342Ser)	UPF3B (G342S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3234270	NM_080632.3(UPF3B):c.1008-6A>G	UPF3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1906332	NM_080632.3(UPF3B):c.1008-18_1008-17del	UPF3B	Deletion (intron variant)	Syndromic X-linked intellectual disability 14	GLikely benign
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 1769242	NM_080632.3(UPF3B):c.1001C>T (p.Pro334Leu)	UPF3B (P321L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2183599	NM_080632.3(UPF3B):c.989A>G (p.Lys330Arg)	UPF3B (K330R +1 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 14	GBenign
Select item 1325336	NM_080632.3(UPF3B):c.982G>T (p.Glu328Ter)	UPF3B (E315* +1 more)	Single nucleotide variant (nonsense)	Syndromic X-linked intellectual disability 14	GLikely pathogenic
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 3009812	NM_080632.3(UPF3B):c.981C>T (p.Ser327=)	UPF3B	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability 14	GLikely benign
Select item 212548	NM_080632.3(UPF3B):c.962T>C (p.Leu321Ser)	UPF3B (L321S +1 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 14 +1 more	GConflicting classifications of pathogenicity
Select item 1657808	NM_080632.3(UPF3B):c.960A>C (p.Thr320=)	UPF3B	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability 14	GLikely benign
Select item 3349207	NM_080632.3(UPF3B):c.956G>T (p.Cys319Phe)	UPF3B (C306F +1 more)	Single nucleotide variant (missense variant)	UPF3B-related disorder	GUncertain significance
Select item 2900967	NM_080632.3(UPF3B):c.950A>G (p.Gln317Arg)	UPF3B (Q317R +1 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 14	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 2133301	NM_080632.3(UPF3B):c.912G>A (p.Leu304=)	UPF3B	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability 14	GLikely benign
Select item 2755195	NM_080632.3(UPF3B):c.903C>T (p.Ala301=)	UPF3B	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability 14	GLikely benign
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

<< First< Prev

Page of 3