ClinVar for Gene (Select 5087) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 133

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236777	NM_002585.4(PBX1):c.152_155dup (p.Ile53fs)	PBX1 (I53fs)	Duplication (frameshift 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 3235971	NM_002585.4(PBX1):c.667dup (p.Val223fs)	PBX1 (V140fs +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 3209023	NM_002585.4(PBX1):c.986C>A (p.Pro329His)	PBX1 (P329H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3209022	NM_002585.4(PBX1):c.1204A>C (p.Asn402His)	PBX1 (N319H +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3209021	NM_002585.4(PBX1):c.113G>A (p.Gly38Glu)	PBX1 (G38E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3062633	GRCh37/hg19 1q23.3(chr1:163815650-164647742)x3	PBX1	Copy number gain	not specified	GUncertain significance
Select item 3054476	NM_002585.4(PBX1):c.*2733T>C	PBX1	Single nucleotide variant (3 prime UTR variant +1 more)	PBX1-related disorder	GLikely benign
Select item 3038609	NM_002585.4(PBX1):c.*2672C>T	PBX1	Single nucleotide variant (3 prime UTR variant +2 more)	PBX1-related disorder	GLikely benign
Select item 3030724	NM_002585.4(PBX1):c.1111-9T>C	PBX1	Single nucleotide variant (intron variant)	PBX1-related disorder	GLikely benign
Select item 3030205	NM_002585.4(PBX1):c.*2673del	PBX1 (R404fs)	Deletion (3 prime UTR variant +2 more)	PBX1-related disorder	GUncertain significance
Select item 3030100	NM_002585.4(PBX1):c.701+9C>G	PBX1	Single nucleotide variant (intron variant)	PBX1-related disorder	GLikely benign
Select item 3014327	NM_002585.4(PBX1):c.1175A>G (p.Gln392Arg)	PBX1 (Q392R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3011172	NM_002585.4(PBX1):c.1206T>C (p.Asn402=)	PBX1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 2994275	NM_002585.4(PBX1):c.997+20G>C	PBX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990353	NM_002585.4(PBX1):c.303A>G (p.Thr101=)	PBX1	Single nucleotide variant (synonymous 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 2963057	NM_002585.4(PBX1):c.660C>T (p.Cys220=)	PBX1	Single nucleotide variant (synonymous 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 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 2882941	NM_002585.4(PBX1):c.51C>T (p.Ala17=)	PBX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2760720	NM_002585.4(PBX1):c.1263T>C (p.Pro421=)	PBX1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
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 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 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 2685754	GRCh37/hg19 1q23.3-25.1(chr1:164571371-175708060)x1	ADCY10, ALDH9A1 +81 more	Copy number loss	not provided	GPathogenic
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 2663011	NM_002585.4(PBX1):c.1123C>T (p.Arg375Cys)	PBX1 (R292C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2639524	NM_002585.4(PBX1):c.645C>T (p.Leu215=)	PBX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639523	NM_002585.4(PBX1):c.378G>A (p.Ser126=)	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 disorder	GUncertain significance
Select item 2630022	NM_002585.4(PBX1):c.22_37dup (p.Gly13fs)	PBX1 (G13fs)	Duplication (frameshift variant +1 more)	PBX1-related disorder	GUncertain significance
Select item 2629883	NM_002585.4(PBX1):c.77T>A (p.Leu26Ter)	PBX1 (L26*)	Single nucleotide variant (nonsense +1 more)	PBX1-related disorder	GLikely pathogenic
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 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 2576953	NM_002585.4(PBX1):c.844A>G (p.Asn282Asp)	PBX1 (N199D +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2551815	NM_002585.4(PBX1):c.1265G>A (p.Gly422Asp)	PBX1 (G339D +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GUncertain significance
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 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 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 2490091	NM_002585.4(PBX1):c.1246T>A (p.Ser416Thr)	PBX1 (S333T +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
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 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 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 2430577	NM_002585.4(PBX1):c.862C>T (p.Arg288Ter)	PBX1 (R205* +1 more)	Single nucleotide variant (nonsense)	PBX1-related disorder +2 more	GPathogenic
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 2227546	NM_002585.4(PBX1):c.863G>A (p.Arg288Gln)	PBX1 (R205Q +1 more)	Single nucleotide variant (missense variant)	PBX1-related disorder +1 more	GConflicting classifications of pathogenicity
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 2158220	NM_002585.4(PBX1):c.396GGC[4] (p.Ala135_Ser136insAla)	PBX1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2073241	NM_002585.4(PBX1):c.78G>A (p.Leu26=)	PBX1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2061338	NM_002585.4(PBX1):c.384AGCGGCGGC[3] (p.Ala135_Ser136insAlaAlaAla)	PBX1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2009732	NM_002585.4(PBX1):c.582A>G (p.Pro194=)	PBX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2000300	NM_002585.4(PBX1):c.1110+14C>T	PBX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1987180	NM_002585.4(PBX1):c.837+14C>G	PBX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1928876	NM_002585.4(PBX1):c.511-10G>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 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 1918260	NM_002585.4(PBX1):c.838-15C>T	PBX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1910110	NM_002585.4(PBX1):c.997+11dup	PBX1	Duplication (intron variant)	not provided	GBenign
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 1896902	NM_002585.4(PBX1):c.1110+16A>T	PBX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1895638	NM_002585.4(PBX1):c.1200+20C>T	PBX1	Single nucleotide variant (intron variant)	not provided	GBenign
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 1808712	GRCh37/hg19 1q23.3(chr1:161924068-164761399)x1	ATF6, C1orf226 +13 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808475	GRCh37/hg19 1q23.3(chr1:164749028-165296253)x3	LMX1A, PBX1	Copy number gain	not provided	GUncertain significance
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 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 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 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 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 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 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 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 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 1622165	NM_002585.4(PBX1):c.1188G>A (p.Pro396=)	PBX1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
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 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 1527348	GRCh37/hg19 1q23.3-24.3(chr1:162330810-171532331)	ADCY10, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1527326	GRCh37/hg19 1q23.2-24.1(chr1:160417296-166197042)	ADAMTS4, ALDH9A1 +62 more	Copy number loss	not specified	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 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 1326990	NM_002585.4(PBX1):c.1110+23A>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	GBenign
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 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 1288942	NM_002585.4(PBX1):c.61G>A (p.Gly21Ser)	PBX1 (G21S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 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 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 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 1098351	NM_002585.4(PBX1):c.52G>T (p.Gly18Ter)	PBX1 (G18*)	Single nucleotide variant (nonsense +1 more)	See cases	GPathogenic
Select item 1074696	NM_002585.4(PBX1):c.140del (p.Leu47fs)	PBX1 (L47fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
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 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 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	CA14, CACNA1E +956 more	Duplication	Gastrointestinal stromal tumor +2 more	GUncertain significance
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 985448	NM_002585.4(PBX1):c.685C>T (p.Arg229Ter)	PBX1 (R146* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
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 979302	GRCh37/hg19 1q23.3-24.2(chr1:164608682-169216098)x1	STYXL2, GPR161 +30 more	Copy number loss	not provided	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

<< First< Prev

Page of 2