HMGXB3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 3106310	NM_014983.3(HMGXB3):c.5A>G (p.Asp2Gly)	HMGXB3 (D2G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284504	NM_014983.3(HMGXB3):c.38T>G (p.Val13Gly)	HMGXB3 (V13G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1676516	NM_014983.3(HMGXB3):c.137+2T>C	HMGXB3	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2308797	NM_014983.3(HMGXB3):c.227T>C (p.Ile76Thr)	HMGXB3 (I76T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219394	NM_014983.3(HMGXB3):c.300A>T (p.Glu100Asp)	HMGXB3 (E100D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480083	NM_014983.3(HMGXB3):c.310C>T (p.Pro104Ser)	HMGXB3 (P104S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546583	NM_014983.3(HMGXB3):c.410G>C (p.Ser137Thr)	HMGXB3 (S137T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106307	NM_014983.3(HMGXB3):c.424C>T (p.Arg142Trp)	HMGXB3 (R142W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468013	NM_014983.3(HMGXB3):c.425G>A (p.Arg142Gln)	HMGXB3 (R142Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106308	NM_014983.3(HMGXB3):c.428G>T (p.Ser143Ile)	HMGXB3 (S143I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3284506	NM_014983.3(HMGXB3):c.464A>G (p.Gln155Arg)	HMGXB3 (Q155R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557188	NM_014983.3(HMGXB3):c.470C>A (p.Ser157Tyr)	HMGXB3 (S157Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402169	NM_014983.3(HMGXB3):c.505C>T (p.Pro169Ser)	HMGXB3 (P169S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412359	NM_014983.3(HMGXB3):c.532A>T (p.Met178Leu)	HMGXB3 (M178L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106309	NM_014983.3(HMGXB3):c.535G>A (p.Ala179Thr)	HMGXB3 (A179T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539970	NM_014983.3(HMGXB3):c.551C>T (p.Ala184Val)	HMGXB3 (A184V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 774635	NM_014983.3(HMGXB3):c.607G>A (p.Glu203Lys)	HMGXB3 (E203K)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3106311	NM_014983.3(HMGXB3):c.655G>A (p.Ala219Thr)	HMGXB3 (A219T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537648	NM_014983.3(HMGXB3):c.718T>G (p.Leu240Val)	HMGXB3 (L240V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485846	NM_014983.3(HMGXB3):c.799A>G (p.Thr267Ala)	HMGXB3 (T267A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 773464	NM_014983.3(HMGXB3):c.838C>T (p.Pro280Ser)	HMGXB3 (P114S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3106312	NM_014983.3(HMGXB3):c.853A>G (p.Ile285Val)	HMGXB3 (I119V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106313	NM_014983.3(HMGXB3):c.856A>C (p.Met286Leu)	HMGXB3 (M120L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 151662	GRCh38/hg38 5q32(chr5:150017045-150043507)x1	HMGXB3, LOC129994979 +1 more	Copy number loss	See cases	GLikely benign
Select item 2277582	NM_014983.3(HMGXB3):c.950G>T (p.Ser317Ile)	HMGXB3 (S151I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546419	NM_014983.3(HMGXB3):c.973G>A (p.Val325Ile)	HMGXB3 (V159I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106290	NM_014983.3(HMGXB3):c.1181C>T (p.Ser394Leu)	HMGXB3 (S394L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106291	NM_014983.3(HMGXB3):c.1189G>C (p.Val397Leu)	HMGXB3 (V397L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106292	NM_014983.3(HMGXB3):c.1258A>G (p.Ile420Val)	HMGXB3 (I420V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316677	NM_014983.3(HMGXB3):c.1297A>T (p.Asn433Tyr)	HMGXB3 (N267Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403086	NM_014983.3(HMGXB3):c.1348C>T (p.Pro450Ser)	HMGXB3 (P284S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259811	NM_014983.3(HMGXB3):c.1369A>G (p.Thr457Ala)	HMGXB3 (T291A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 768044	NM_014983.3(HMGXB3):c.1410C>T (p.Ser470=)	HMGXB3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3106293	NM_014983.3(HMGXB3):c.1517G>A (p.Gly506Asp)	HMGXB3 (G340D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106294	NM_014983.3(HMGXB3):c.1549A>G (p.Met517Val)	HMGXB3 (M351V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550867	NM_014983.3(HMGXB3):c.1562T>G (p.Leu521Trp)	HMGXB3 (L355W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106295	NM_014983.3(HMGXB3):c.1586G>A (p.Arg529Gln)	HMGXB3 (R363Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553430	NM_014983.3(HMGXB3):c.1613C>T (p.Ala538Val)	HMGXB3 (A372V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272769	NM_014983.3(HMGXB3):c.1628C>G (p.Ser543Cys)	HMGXB3 (S377C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106296	NM_014983.3(HMGXB3):c.1667T>C (p.Leu556Pro)	HMGXB3 (L390P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771384	NM_014983.3(HMGXB3):c.1750T>A (p.Ser584Thr)	HMGXB3 (S584T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2482916	NM_014983.3(HMGXB3):c.1792G>A (p.Asp598Asn)	HMGXB3 (D598N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403573	NM_014983.3(HMGXB3):c.1795A>G (p.Met599Val)	HMGXB3 (M433V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548980	NM_014983.3(HMGXB3):c.1904A>G (p.Asn635Ser)	HMGXB3 (N635S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548981	NM_014983.3(HMGXB3):c.1905C>A (p.Asn635Lys)	HMGXB3 (N469K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293955	NM_014983.3(HMGXB3):c.1943A>T (p.Asn648Ile)	HMGXB3 (N648I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284511	NM_014983.3(HMGXB3):c.1957C>T (p.Arg653Trp)	HMGXB3 (R653W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367675	NM_014983.3(HMGXB3):c.1982T>C (p.Ile661Thr)	HMGXB3 (I661T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387280	NM_014983.3(HMGXB3):c.2056C>T (p.Arg686Cys)	HMGXB3 (R520C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106297	NM_014983.3(HMGXB3):c.2057G>A (p.Arg686His)	HMGXB3 (R520H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358721	NM_014983.3(HMGXB3):c.2131G>A (p.Ala711Thr)	HMGXB3 (A711T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284508	NM_014983.3(HMGXB3):c.2165T>C (p.Ile722Thr)	HMGXB3 (I556T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106298	NM_014983.3(HMGXB3):c.2174A>G (p.Asn725Ser)	HMGXB3 (N725S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284509	NM_014983.3(HMGXB3):c.2200G>A (p.Glu734Lys)	HMGXB3 (E568K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284512	NM_014983.3(HMGXB3):c.2216C>T (p.Ser739Leu)	HMGXB3 (S739L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284505	NM_014983.3(HMGXB3):c.2282A>C (p.Gln761Pro)	HMGXB3 (Q595P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106299	NM_014983.3(HMGXB3):c.2330G>A (p.Arg777His)	HMGXB3 (R611H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600978	NM_014983.3(HMGXB3):c.2464G>A (p.Ala822Thr)	HMGXB3 (A656T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284513	NM_014983.3(HMGXB3):c.2467A>G (p.Ile823Val)	HMGXB3 (I657V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307720	NM_014983.3(HMGXB3):c.2503G>C (p.Val835Leu)	HMGXB3 (V835L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515086	NM_014983.3(HMGXB3):c.2725G>A (p.Val909Met)	HMGXB3 (V743M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556808	NM_014983.3(HMGXB3):c.2877C>G (p.Phe959Leu)	HMGXB3 (F793L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533635	NM_014983.3(HMGXB3):c.2899G>A (p.Val967Met)	HMGXB3 (V801M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595568	NM_014983.3(HMGXB3):c.2957G>A (p.Gly986Asp)	HMGXB3 (G986D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106300	NM_014983.3(HMGXB3):c.3051G>C (p.Gln1017His)	HMGXB3 (Q851H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284503	NM_014983.3(HMGXB3):c.3122C>A (p.Ser1041Tyr)	HMGXB3 (S875Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106301	NM_014983.3(HMGXB3):c.3124G>C (p.Val1042Leu)	HMGXB3 (V876L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490564	NM_014983.3(HMGXB3):c.3143C>G (p.Ala1048Gly)	HMGXB3 (A1048G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106302	NM_014983.3(HMGXB3):c.3178A>G (p.Ile1060Val)	HMGXB3 (I1060V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284510	NM_014983.3(HMGXB3):c.3305T>C (p.Met1102Thr)	HMGXB3 (M936T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294280	NM_014983.3(HMGXB3):c.3344C>G (p.Pro1115Arg)	HMGXB3 (P949R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106303	NM_014983.3(HMGXB3):c.3511C>T (p.Arg1171Cys)	HMGXB3 (R1005C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457897	NM_014983.3(HMGXB3):c.3536C>G (p.Pro1179Arg)	HMGXB3 (P1179R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211701	NM_014983.3(HMGXB3):c.3536C>T (p.Pro1179Leu)	HMGXB3 (P1013L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106304	NM_014983.3(HMGXB3):c.3564C>G (p.His1188Gln)	HMGXB3 (H1188Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784631	NM_014983.3(HMGXB3):c.3600C>T (p.Tyr1200=)	HMGXB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2407253	NM_014983.3(HMGXB3):c.3601G>A (p.Ala1201Thr)	HMGXB3 (A1201T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2371021	NM_014983.3(HMGXB3):c.3622G>A (p.Val1208Met)	HMGXB3 (V1042M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401269	NM_014983.3(HMGXB3):c.3652C>T (p.Arg1218Trp)	HMGXB3 (R1052W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350161	NM_014983.3(HMGXB3):c.3655C>T (p.Pro1219Ser)	HMGXB3 (P1053S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484575	NM_014983.3(HMGXB3):c.3666C>G (p.Phe1222Leu)	HMGXB3 (F1056L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351891	NM_014983.3(HMGXB3):c.3671A>G (p.Asn1224Ser)	HMGXB3 (N1058S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106305	NM_014983.3(HMGXB3):c.3673G>A (p.Ala1225Thr)	HMGXB3 (A1225T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404287	NM_014983.3(HMGXB3):c.3736C>T (p.Arg1246Cys)	HMGXB3 (R1246C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106306	NM_014983.3(HMGXB3):c.3769C>T (p.Pro1257Ser)	HMGXB3 (P1091S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655901	NM_014983.3(HMGXB3):c.3798C>T (p.Leu1266=)	HMGXB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2361622	NM_014983.3(HMGXB3):c.3802C>T (p.Arg1268Cys)	HMGXB3 (R1268C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3284502	NM_014983.3(HMGXB3):c.3865G>A (p.Ala1289Thr)	HMGXB3 (A1123T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2309967	NM_014983.3(HMGXB3):c.3872C>T (p.Ala1291Val)	HMGXB3 (A1291V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425319	NC_000005.9:g.(?_147774340)_(149681936_?)del	ABLIM3, ADRB2 +23 more	Deletion	not provided	GUncertain significance
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 814751	GRCh37/hg19 5q32(chr5:148953230-149414017)x3	ARHGEF37, MIR378A +5 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	HARS1, HARS2 +385 more	Deletion	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 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

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