"Invitae"[submitter] AND "PBX1"[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2882941	NM_002585.4(PBX1):c.51C>T (p.Ala17=)	PBX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 1074696	NM_002585.4(PBX1):c.140del (p.Leu47fs)	PBX1 (L47fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
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 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 2990353	NM_002585.4(PBX1):c.303A>G (p.Thr101=)	PBX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2061338	NM_002585.4(PBX1):c.384AGCGGCGGC[3] (p.Ala135_Ser136insAlaAlaAla)	PBX1	Microsatellite (inframe_insertion)	not provided	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 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 2009732	NM_002585.4(PBX1):c.582A>G (p.Pro194=)	PBX1	Single nucleotide variant (synonymous variant)	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 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 1430515	NM_002585.4(PBX1):c.790G>T (p.Glu264Ter)	PBX1 (E181* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 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 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
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 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 1895638	NM_002585.4(PBX1):c.1200+20C>T	PBX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3011172	NM_002585.4(PBX1):c.1206T>C (p.Asn402=)	PBX1	Single nucleotide variant (3 prime UTR variant +2 more)	PBX1-related condition +1 more	GBenign/Likely benign
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 2551815	NM_002585.4(PBX1):c.1265G>A (p.Gly422Asp)	PBX1 (G339D +1 more)	Single nucleotide variant (intron variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance

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Items: 37