ClinVar for Gene (Select 5087) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3599786	NM_002585.4(PBX1):c.1179G>A (p.Met393Ile)	PBX1 (M310I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	GUncertain significance
Select item 3599784	NM_002585.4(PBX1):c.1169C>T (p.Ala390Val)	PBX1 (A307V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	GUncertain significance
Select item 3599783	NM_002585.4(PBX1):c.1124G>A (p.Arg375His)	PBX1 (R375H +1 more)	Single nucleotide variant (synonymous variant +1 more)	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	GUncertain significance
Select item 3599781	NM_002585.4(PBX1):c.1067A>T (p.Asp356Val)	PBX1 (D356V +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	GUncertain significance
Select item 3599777	NM_002585.4(PBX1):c.943A>G (p.Asn315Asp)	PBX1 (N232D +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 3599774	NM_002585.4(PBX1):c.940A>G (p.Thr314Ala)	PBX1 (T231A +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 3599770	NM_002585.4(PBX1):c.919G>T (p.Ala307Ser)	PBX1 (A307S +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 3599769	NM_002585.4(PBX1):c.838-8del	PBX1	Deletion (intron variant)	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	GUncertain significance
Select item 3599764	NM_002585.4(PBX1):c.702-11T>A	PBX1	Single nucleotide variant (intron variant)	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	GUncertain significance
Select item 3599756	NM_002585.4(PBX1):c.661G>A (p.Glu221Lys)	PBX1 (E138K +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 3599742	NM_002585.4(PBX1):c.607A>G (p.Ile203Val)	PBX1 (I120V +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 3599739	NM_002585.4(PBX1):c.595C>T (p.Arg199Trp)	PBX1 (R199W +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 3599733	NM_002585.4(PBX1):c.511-19G>T	PBX1	Single nucleotide variant (intron variant)	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	GUncertain significance
Select item 3599723	NM_002585.4(PBX1):c.348C>T (p.Gly116=)	PBX1	Single nucleotide variant (synonymous variant)	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	GUncertain significance
Select item 3599718	NM_002585.4(PBX1):c.325dup (p.Asp109fs)	PBX1 (D26fs +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 3599712	NM_002585.4(PBX1):c.304_305del (p.Asp102fs)	PBX1 (D19fs +1 more)	Deletion (frameshift variant)	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	GLikely pathogenic
Select item 3599709	NM_002585.4(PBX1):c.303A>C (p.Thr101=)	PBX1	Single nucleotide variant (synonymous variant)	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	GUncertain significance
Select item 3599704	NM_002585.4(PBX1):c.119A>G (p.Lys40Arg)	PBX1 (K40R)	Single nucleotide variant (missense variant +1 more)	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	GUncertain significance
Select item 3414609	NM_002585.4(PBX1):c.1275C>G (p.His425Gln)	PBX1 (H342Q +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3414608	NM_002585.4(PBX1):c.1081G>T (p.Ala361Ser)	PBX1 (A278S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3414607	NM_002585.4(PBX1):c.518del (p.Asn173fs)	PBX1 (N90fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 3414606	NM_002585.4(PBX1):c.415G>A (p.Ala139Thr)	PBX1 (A139T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3393572	NM_002585.4(PBX1):c.227C>T (p.Ala76Val)	PBX1 (A76V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3391975	GRCh37/hg19 1q23.3(chr1:164368453-164683201)x3	PBX1	Copy number gain	not provided	GUncertain significance
Select item 3377008	NM_002585.4(PBX1):c.694G>C (p.Asp232His)	PBX1 (D149H +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 3375285	NM_002585.4(PBX1):c.657G>A (p.Thr219=)	PBX1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3374741	NM_002585.4(PBX1):c.191+1G>A	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	GPathogenic
Select item 3370763	NM_002585.4(PBX1):c.731C>T (p.Ala244Val)	PBX1 (A161V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370534	NM_002585.4(PBX1):c.616C>G (p.Arg206Gly)	PBX1 (R123G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364801	NM_002585.4(PBX1):c.698C>T (p.Ala233Val)	PBX1 (A150V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363551	NM_002585.4(PBX1):c.974C>G (p.Ser325Trp)	PBX1 (S242W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361983	NM_002585.4(PBX1):c.485A>G (p.His162Arg)	PBX1 (H162R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360321	NM_002585.4(PBX1):c.866T>A (p.Ile289Asn)	PBX1 (I206N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3351551	NM_002585.4(PBX1):c.2668_2676del	PBX1	Deletion (3 prime UTR variant +2 more)	PBX1-related disorder	GUncertain significance
Select item 3350227	NM_002585.4(PBX1):c.567C>G (p.Thr189=)	PBX1	Single nucleotide variant (synonymous variant)	PBX1-related disorder	GLikely benign
Select item 3343259	NM_002585.4(PBX1):c.451A>G (p.Arg151Gly)	PBX1 (R151G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342249	NM_002585.4(PBX1):c.939dup (p.Thr314fs)	PBX1 (T231fs +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 3252733	NM_002585.4(PBX1):c.*2717G>A	PBX1 (W418*)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3251438	NM_002585.4(PBX1):c.*13C>T	PBX1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3247942	NC_000001.10:g.(?_164761711)_(164815913_?)del	PBX1	Deletion	not provided	GUncertain significance
Select item 3238760	NM_002585.4(PBX1):c.332T>A (p.Met111Lys)	PBX1 (M111K +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 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	GBenign
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)	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay +1 more	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)	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay +1 more	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)	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay +1 more	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)	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay +3 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)	not provided +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)	Inborn genetic diseases +1 more	GLikely pathogenic
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	GBenign
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

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