PBX1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC132088675, LOC132088682 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 60043	GRCh38/hg38 1q23.3-24.2(chr1:162040050-167480663)x1	LOC129931815, LOC129931816 +151 more	Copy number loss	See cases	GPathogenic
Select item 155225	GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1	ADCY10, ALDH9A1 +407 more	Copy number loss	See cases	GPathogenic
Select item 59374	GRCh38/hg38 1q23.3-24.1(chr1:164547546-165689403)x1	ALDH9A1, LMX1A +28 more	Copy number loss	See cases	GUncertain significance
Select item 2630022	NM_002585.4(PBX1):c.22_37dup (p.Gly13fs)	PBX1 (G13fs)	Duplication (frameshift variant +1 more)	PBX1-related condition	GUncertain significance
Select item 2729396	NM_002585.4(PBX1):c.30C>G (p.Ser10=)	PBX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1810475	NM_002585.4(PBX1):c.32A>G (p.His11Arg)	PBX1 (H11R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2882941	NM_002585.4(PBX1):c.51C>T (p.Ala17=)	PBX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1098351	NM_002585.4(PBX1):c.52G>T (p.Gly18Ter)	PBX1 (G18*)	Single nucleotide variant (nonsense +1 more)	See cases	GPathogenic
Select item 1288942	NM_002585.4(PBX1):c.61G>A (p.Gly21Ser)	PBX1 (G21S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1251927	NM_002585.4(PBX1):c.67del (p.Ser23fs)	PBX1 (S23fs)	Deletion (frameshift variant +1 more)	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	GPathogenic
Select item 2629883	NM_002585.4(PBX1):c.77T>A (p.Leu26Ter)	PBX1 (L26*)	Single nucleotide variant (nonsense +1 more)	PBX1-related condition	GLikely pathogenic
Select item 2073241	NM_002585.4(PBX1):c.78G>A (p.Leu26=)	PBX1	Single nucleotide variant (synonymous variant +1 more)	PBX1-related condition +1 more	GBenign/Likely benign
Select item 1048952	NM_002585.4(PBX1):c.92G>T (p.Gly31Val)	PBX1 (G31V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2582616	NM_002585.4(PBX1):c.121C>T (p.Gln41Ter)	PBX1 (Q41*)	Single nucleotide variant (nonsense +1 more)	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	GPathogenic
Select item 1074696	NM_002585.4(PBX1):c.140del (p.Leu47fs)	PBX1 (L47fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 666556	NM_002585.4(PBX1):c.145C>T (p.Gln49Ter)	PBX1 (Q49*)	Single nucleotide variant (nonsense +1 more)	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	GLikely pathogenic
Select item 1920925	NM_002585.4(PBX1):c.187G>T (p.Ala63Ser)	PBX1 (A63S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2958131	NM_002585.4(PBX1):c.192-15_192-13del	PBX1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2355071	NM_002585.4(PBX1):c.192A>G (p.Arg64=)	PBX1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 872515	NM_002585.4(PBX1):c.265+2_265+5del	PBX1	Deletion (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 1179136	NM_002585.4(PBX1):c.265+1G>A	PBX1	Single nucleotide variant (splice donor variant +1 more)	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	GLikely pathogenic
Select item 1599700	NM_002585.4(PBX1):c.266-15_266-14insTT	PBX1	Insertion (intron variant)	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay +1 more	GBenign
Select item 2824762	NM_002585.4(PBX1):c.271A>C (p.Ser91Arg)	PBX1 (S8R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1705458	NM_002585.4(PBX1):c.277C>T (p.Arg93Ter)	PBX1 (R10* +1 more)	Single nucleotide variant (nonsense)	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay +1 more	GPathogenic/Likely pathogenic
Select item 2990353	NM_002585.4(PBX1):c.303A>G (p.Thr101=)	PBX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2633093	NM_002585.4(PBX1):c.314T>A (p.Leu105Gln)	PBX1 (L105Q +1 more)	Single nucleotide variant (missense variant)	PBX1-related condition	GUncertain significance
Select item 1686006	NM_002585.4(PBX1):c.318dup (p.Arg107fs)	PBX1 (R107fs +1 more)	Duplication (frameshift variant)	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	GPathogenic
Select item 1710913	NM_002585.4(PBX1):c.320G>A (p.Arg107Gln)	PBX1 (R107Q +1 more)	Single nucleotide variant (missense variant)	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	GLikely pathogenic
Select item 1164014	NM_002585.4(PBX1):c.320G>C (p.Arg107Pro)	PBX1 (R107P +1 more)	Single nucleotide variant (missense variant)	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	GLikely pathogenic
Select item 1805951	NM_002585.4(PBX1):c.331A>G (p.Met111Val)	PBX1 (M111V +1 more)	Single nucleotide variant (missense variant)	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	GUncertain significance
Select item 2501956	NM_002585.4(PBX1):c.349G>C (p.Val117Leu)	PBX1 (V117L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 817312	NM_002585.4(PBX1):c.370_371dup (p.Gly125fs)	PBX1 (G42fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2061338	NM_002585.4(PBX1):c.384AGCGGCGGC[3] (p.Ala135_Ser136insAlaAlaAla)	PBX1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2639523	NM_002585.4(PBX1):c.378G>A (p.Ser126=)	PBX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 817451	NM_002585.4(PBX1):c.392del (p.Ala131fs)	PBX1 (A131fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2158220	NM_002585.4(PBX1):c.396GGC[4] (p.Ala135_Ser136insAla)	PBX1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 488567	NM_002585.4(PBX1):c.413_419del (p.Gly138fs)	PBX1 (G138fs +1 more)	Deletion (frameshift variant)	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	GPathogenic
Select item 620254	NM_002585.4(PBX1):c.422C>G (p.Ser141Ter)	PBX1 (S141* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 437835	NM_002585.4(PBX1):c.428del (p.Asn143fs)	PBX1 (N143fs +1 more)	Deletion (frameshift variant)	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	GPathogenic
Select item 1994821	NM_002585.4(PBX1):c.503A>T (p.Tyr168Phe)	PBX1 (Y168F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1928876	NM_002585.4(PBX1):c.511-10G>C	PBX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 437837	NM_002585.4(PBX1):c.511-2A>G	PBX1	Single nucleotide variant (splice acceptor variant)	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	GPathogenic
Select item 1722912	NM_002585.4(PBX1):c.542A>G (p.Asn181Ser)	PBX1 (N181S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430588	NM_002585.4(PBX1):c.545T>C (p.Leu182Pro)	PBX1 (L182P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 437836	NM_002585.4(PBX1):c.550C>T (p.Arg184Ter)	PBX1 (R184* +1 more)	Single nucleotide variant (nonsense)	Autism spectrum disorder	GPathogenic
Select item 2009732	NM_002585.4(PBX1):c.582A>G (p.Pro194=)	PBX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1710476	NM_002585.4(PBX1):c.608_619del (p.Ile203_Arg206del)	PBX1	Deletion (inframe_deletion)	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	GLikely pathogenic
Select item 1339930	NM_002585.4(PBX1):c.616del (p.Arg206fs)	PBX1 (R123fs +1 more)	Deletion (frameshift variant)	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	Gnot provided
Select item 829839	NM_002585.4(PBX1):c.618dup (p.Lys207fs)	PBX1 (K124fs +1 more)	Duplication (frameshift variant)	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	GLikely pathogenic
Select item 1695602	NM_002585.4(PBX1):c.627C>A (p.Ser209Arg)	PBX1 (S126R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441873	NM_002585.4(PBX1):c.630_631del (p.Ile211fs)	PBX1 (I128fs +1 more)	Deletion (frameshift variant)	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	GPathogenic
Select item 992378	NM_002585.4(PBX1):c.634C>T (p.Gln212Ter)	PBX1 (Q129* +1 more)	Single nucleotide variant (nonsense)	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	GLikely pathogenic
Select item 2639524	NM_002585.4(PBX1):c.645C>T (p.Leu215=)	PBX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1324849	NM_002585.4(PBX1):c.646A>T (p.Lys216Ter)	PBX1 (K133* +1 more)	Single nucleotide variant (nonsense)	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	GLikely pathogenic
Select item 2963057	NM_002585.4(PBX1):c.660C>T (p.Cys220=)	PBX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2505899	NM_002585.4(PBX1):c.660C>A (p.Cys220Ter)	PBX1 (C137* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 807456	NM_002585.4(PBX1):c.661G>T (p.Glu221Ter)	PBX1 (E221* +1 more)	Single nucleotide variant (nonsense)	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	GPathogenic
Select item 523088	NM_002585.4(PBX1):c.680G>C (p.Arg227Pro)	PBX1 (R227P +1 more)	Single nucleotide variant (missense variant)	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	GPathogenic
Select item 985448	NM_002585.4(PBX1):c.685C>T (p.Arg229Ter)	PBX1 (R146* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 1698904	NM_002585.4(PBX1):c.700C>T (p.Arg234Trp)	PBX1 (R151W +1 more)	Single nucleotide variant (missense variant)	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	GConflicting classifications of pathogenicity
Select item 559855	NM_002585.4(PBX1):c.701G>A (p.Arg234Gln)	PBX1 (R234Q +1 more)	Single nucleotide variant (missense variant)	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	GLikely pathogenic
Select item 523089	NM_002585.4(PBX1):c.701G>C (p.Arg234Pro)	PBX1 (R234P +1 more)	Single nucleotide variant (missense variant)	PBX1-related intellectual disability and pleiotropic developmental defects	GLikely pathogenic
Select item 2500961	NM_002585.4(PBX1):c.701+2T>G	PBX1	Single nucleotide variant (splice donor variant)	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	GLikely pathogenic
Select item 3030100	NM_002585.4(PBX1):c.701+9C>G	PBX1	Single nucleotide variant (intron variant)	PBX1-related condition	GLikely benign
Select item 1582563	NM_002585.4(PBX1):c.701+13T>G	PBX1	Single nucleotide variant (intron variant)	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay +1 more	GBenign
Select item 829999	NM_002585.4(PBX1):c.703C>T (p.Arg235Trp)	PBX1 (R152W +1 more)	Single nucleotide variant (missense variant)	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	GLikely pathogenic
Select item 523090	NM_002585.4(PBX1):c.704G>A (p.Arg235Gln)	PBX1 (R235Q +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2581161	NM_002585.4(PBX1):c.712C>T (p.Arg238Trp)	PBX1 (R155W +1 more)	Single nucleotide variant (missense variant)	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	GLikely pathogenic
Select item 1801344	NM_002585.4(PBX1):c.758A>C (p.Tyr253Ser)	PBX1 (Y170S +1 more)	Single nucleotide variant (missense variant)	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	GLikely pathogenic
Select item 985388	NM_002585.4(PBX1):c.760T>C (p.Ser254Pro)	PBX1 (S171P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 523091	NM_002585.4(PBX1):c.783dup (p.Ser262fs)	PBX1 (S179fs +1 more)	Duplication (frameshift variant)	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	GPathogenic
Select item 1430515	NM_002585.4(PBX1):c.790G>T (p.Glu264Ter)	PBX1 (E181* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2446149	NM_002585.4(PBX1):c.801G>C (p.Glu267Asp)	PBX1 (E184D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1065505	NM_002585.4(PBX1):c.817T>C (p.Cys273Arg)	PBX1 (C190R +1 more)	Single nucleotide variant (missense variant)	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	GLikely pathogenic
Select item 598775	NM_002585.4(PBX1):c.818G>A (p.Cys273Tyr)	PBX1 (C273Y +1 more)	Single nucleotide variant (missense variant)	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	GLikely pathogenic
Select item 974860	NM_002585.4(PBX1):c.836A>G (p.Gln279Arg)	PBX1 (Q196R +1 more)	Single nucleotide variant (missense variant)	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	GLikely pathogenic
Select item 1987180	NM_002585.4(PBX1):c.837+14C>G	PBX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1918260	NM_002585.4(PBX1):c.838-15C>T	PBX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 916112	NM_002585.4(PBX1):c.838-1G>C	PBX1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2576953	NM_002585.4(PBX1):c.844A>G (p.Asn282Asp)	PBX1 (N199D +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2430577	NM_002585.4(PBX1):c.862C>T (p.Arg288Ter)	PBX1 (R205* +1 more)	Single nucleotide variant (nonsense)	PBX1-related condition +2 more	GPathogenic
Select item 2227546	NM_002585.4(PBX1):c.863G>A (p.Arg288Gln)	PBX1 (R205Q +1 more)	Single nucleotide variant (missense variant)	PBX1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2689662	NM_002585.4(PBX1):c.865A>C (p.Ile289Leu)	PBX1 (I206L +1 more)	Single nucleotide variant (missense variant)	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	GUncertain significance
Select item 1254734	NM_002585.4(PBX1):c.868C>T (p.Arg290Trp)	PBX1 (R207W +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1315177	NM_002585.4(PBX1):c.891A>C (p.Lys297Asn)	PBX1 (K214N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663051	NM_002585.4(PBX1):c.898G>A (p.Glu300Lys)	PBX1 (E217K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1910110	NM_002585.4(PBX1):c.997+11dup	PBX1	Duplication (intron variant)	not provided	GBenign
Select item 2994275	NM_002585.4(PBX1):c.997+20G>C	PBX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1924894	NM_002585.4(PBX1):c.997+20G>A	PBX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975745	NM_002585.4(PBX1):c.1002T>C (p.Ser334=)	PBX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2223891	NM_002585.4(PBX1):c.1046G>A (p.Ser349Asn)	PBX1 (S266N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2919727	NM_002585.4(PBX1):c.1048G>A (p.Val350Met)	PBX1 (V267M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1897873	NM_002585.4(PBX1):c.1071T>C (p.Ser357=)	PBX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2726545	NM_002585.4(PBX1):c.1099G>A (p.Val367Met)	PBX1 (V284M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2000300	NM_002585.4(PBX1):c.1110+14C>T	PBX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1896902	NM_002585.4(PBX1):c.1110+16A>T	PBX1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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