ClinVar for MedGen (Select 356049) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246898	NC_000003.11:g.(?_176743286)_(176769534_?)dup	TBL1XR1	Duplication	Pierpont syndrome	GUncertain significance
Select item 3246897	NC_000003.11:g.(?_176782688)_(176782765_?)dup	TBL1XR1	Duplication	Pierpont syndrome	GUncertain significance
Select item 3024291	NM_024665.7(TBL1XR1):c.699_700delinsTT (p.Trp233_Asn234delinsCysTyr)	TBL1XR1	Indel (missense variant)	Pierpont syndrome +1 more	GUncertain significance
Select item 3021487	NM_024665.7(TBL1XR1):c.703A>G (p.Ser235Gly)	TBL1XR1, TBL1XR1-AS1 (S235G +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 3015648	NM_024665.7(TBL1XR1):c.766+17C>T	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 3015047	NM_024665.7(TBL1XR1):c.865-14C>T	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 3013772	NM_024665.7(TBL1XR1):c.712A>G (p.Thr238Ala)	TBL1XR1, TBL1XR1-AS1 (T238A +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 3012985	NM_024665.7(TBL1XR1):c.1161G>A (p.Leu387=)	TBL1XR1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 3012984	NM_024665.7(TBL1XR1):c.1383T>C (p.Ser461=)	TBL1XR1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 3006117	NM_024665.7(TBL1XR1):c.204+8A>G	TBL1XR1	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 3004810	NM_024665.7(TBL1XR1):c.321_338dup (p.Ala118_Ser119insAlaAlaAlaAlaAlaAla)	TBL1XR1	Duplication (inframe_insertion)	Pierpont syndrome	GUncertain significance
Select item 3004634	NM_024665.7(TBL1XR1):c.428-20_428-17del	TBL1XR1	Deletion (intron variant)	Pierpont syndrome	GLikely benign
Select item 2997389	NM_024665.7(TBL1XR1):c.585A>C (p.Ile195=)	TBL1XR1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 2981947	NM_024665.7(TBL1XR1):c.360A>G (p.Gln120=)	TBL1XR1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 2975280	NM_024665.7(TBL1XR1):c.780C>T (p.Ser260=)	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 2969313	NM_024665.7(TBL1XR1):c.549C>T (p.Leu183=)	TBL1XR1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 2960177	NM_024665.7(TBL1XR1):c.1104T>G (p.Ser368=)	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 2920494	NM_024665.7(TBL1XR1):c.145T>C (p.Leu49=)	TBL1XR1	Single nucleotide variant (synonymous variant +1 more)	Pierpont syndrome	GLikely benign
Select item 2920058	NM_024665.7(TBL1XR1):c.732C>T (p.Ser244=)	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 2918891	NM_024665.7(TBL1XR1):c.417T>C (p.His139=)	TBL1XR1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 2918492	NM_024665.7(TBL1XR1):c.1173T>C (p.Asn391=)	TBL1XR1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 2911978	NM_024665.7(TBL1XR1):c.1250+6A>T	TBL1XR1	Single nucleotide variant (intron variant)	Pierpont syndrome	GUncertain significance
Select item 2896930	NM_024665.7(TBL1XR1):c.434A>T (p.His145Leu)	TBL1XR1 (H58L +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 2892945	NM_024665.7(TBL1XR1):c.1022C>T (p.Pro341Leu)	LOC126806878, TBL1XR1 +1 more (P254L +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 2892099	NM_024665.7(TBL1XR1):c.1518A>C (p.Ser506=)	TBL1XR1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GUncertain significance
Select item 2891435	NM_024665.7(TBL1XR1):c.59-5T>G	TBL1XR1	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 2886546	NM_024665.7(TBL1XR1):c.561-13C>T	TBL1XR1	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 2885114	NM_024665.7(TBL1XR1):c.427+15_427+17del	TBL1XR1	Deletion (intron variant)	Pierpont syndrome	GLikely benign
Select item 2883105	NM_024665.7(TBL1XR1):c.59-8G>T	TBL1XR1	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 2883104	NM_024665.7(TBL1XR1):c.59-8_59-7insGT	TBL1XR1	Insertion (intron variant)	Pierpont syndrome	GLikely benign
Select item 2880374	NM_024665.7(TBL1XR1):c.887A>G (p.His296Arg)	TBL1XR1, TBL1XR1-AS1 (H209R +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 2878545	NM_024665.7(TBL1XR1):c.365G>A (p.Gly122Glu)	TBL1XR1 (G122E +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 2878471	NM_024665.7(TBL1XR1):c.1519-17A>G	TBL1XR1	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 2856653	NM_024665.7(TBL1XR1):c.204_204+2dup	TBL1XR1	Duplication (splice donor variant)	Pierpont syndrome	GUncertain significance
Select item 2854416	NM_024665.7(TBL1XR1):c.830_831del (p.Lys277fs)	TBL1XR1, TBL1XR1-AS1 (K190fs +1 more)	Deletion (frameshift variant)	Pierpont syndrome	GPathogenic
Select item 2850020	NM_024665.7(TBL1XR1):c.1333G>A (p.Val445Met)	TBL1XR1 (V358M +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 2847528	NM_024665.7(TBL1XR1):c.549_551del (p.Leu184del)	TBL1XR1 (L97del +1 more)	Deletion (inframe_deletion)	Pierpont syndrome	GUncertain significance
Select item 2842574	NM_024665.7(TBL1XR1):c.671G>T (p.Ser224Ile)	TBL1XR1 (S137I +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 2841006	NM_024665.7(TBL1XR1):c.629T>G (p.Val210Gly)	TBL1XR1 (V123G +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 2838903	NM_024665.7(TBL1XR1):c.205-15A>G	TBL1XR1	Single nucleotide variant (intron variant)	Pierpont syndrome	GUncertain significance
Select item 2828742	NM_024665.7(TBL1XR1):c.1518+8_1518+12del	TBL1XR1	Deletion (intron variant)	Pierpont syndrome	GLikely benign
Select item 2823338	NM_024665.7(TBL1XR1):c.560+19T>C	TBL1XR1	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 2820009	NM_024665.7(TBL1XR1):c.959A>C (p.Asn320Thr)	LOC126806878, TBL1XR1 +1 more (N233T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pierpont syndrome	GUncertain significance
Select item 2819963	NM_024665.7(TBL1XR1):c.533A>G (p.Asn178Ser)	TBL1XR1 (N91S +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 2817997	NM_024665.7(TBL1XR1):c.1518+18T>A	TBL1XR1	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 2812076	NM_024665.7(TBL1XR1):c.1518+3A>G	TBL1XR1	Single nucleotide variant (intron variant)	Pierpont syndrome	GUncertain significance
Select item 2810556	NM_024665.7(TBL1XR1):c.327_353del (p.Ala110_Ala118del)	TBL1XR1	Deletion (inframe_deletion)	Pierpont syndrome	GUncertain significance
Select item 2798965	NM_024665.7(TBL1XR1):c.156C>T (p.Ile52=)	TBL1XR1	Single nucleotide variant (synonymous variant +1 more)	Pierpont syndrome	GLikely benign
Select item 2798880	NM_024665.7(TBL1XR1):c.1026T>A (p.Ile342=)	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 2797614	NM_024665.7(TBL1XR1):c.205-13T>A	TBL1XR1	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 2795716	NM_024665.7(TBL1XR1):c.1048-7T>C	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 2790091	NM_024665.7(TBL1XR1):c.428-20A>G	TBL1XR1	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 2788994	NM_024665.7(TBL1XR1):c.999C>T (p.Val333=)	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 2787783	NM_024665.7(TBL1XR1):c.561-11T>C	TBL1XR1	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 2785014	NM_024665.7(TBL1XR1):c.1122+5T>C	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (intron variant)	Pierpont syndrome	GUncertain significance
Select item 2772384	NM_024665.7(TBL1XR1):c.1385T>C (p.Phe462Ser)	TBL1XR1 (F462S +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 2772237	NM_024665.7(TBL1XR1):c.1346C>T (p.Ala449Val)	TBL1XR1 (A362V +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome +1 more	GUncertain significance
Select item 2769031	NM_024665.7(TBL1XR1):c.925+3A>G	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (intron variant)	Pierpont syndrome	GUncertain significance
Select item 2768040	NM_024665.7(TBL1XR1):c.621A>G (p.Thr207=)	TBL1XR1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 2766844	NM_024665.7(TBL1XR1):c.395A>G (p.Asn132Ser)	TBL1XR1 (N45S +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 2763859	NM_024665.7(TBL1XR1):c.354C>T (p.Ala118=)	TBL1XR1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 2763824	NM_024665.7(TBL1XR1):c.1542A>G (p.Lys514=)	TBL1XR1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 2760864	NM_024665.7(TBL1XR1):c.526G>T (p.Ala176Ser)	TBL1XR1 (A89S +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 2760511	NM_024665.7(TBL1XR1):c.776_780dup (p.Thr261fs)	TBL1XR1, TBL1XR1-AS1 (T174fs +1 more)	Duplication (frameshift variant)	Pierpont syndrome	GPathogenic
Select item 2749407	NM_024665.7(TBL1XR1):c.1488C>T (p.Asp496=)	TBL1XR1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 2743187	NM_024665.7(TBL1XR1):c.124G>A (p.Ala42Thr)	TBL1XR1 (A42T)	Single nucleotide variant (missense variant +1 more)	Pierpont syndrome	GUncertain significance
Select item 2739451	NM_024665.7(TBL1XR1):c.257_271del (p.Ala86_Asp90del)	TBL1XR1	Deletion (inframe_deletion +1 more)	Pierpont syndrome	GUncertain significance
Select item 2731344	NM_024665.7(TBL1XR1):c.513A>G (p.Glu171=)	TBL1XR1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 2730156	NM_024665.7(TBL1XR1):c.1302C>T (p.Cys434=)	TBL1XR1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 2729164	NM_024665.7(TBL1XR1):c.1046C>T (p.Thr349Met)	LOC126806878, TBL1XR1 +1 more (T262M +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 2719189	NM_024665.7(TBL1XR1):c.277C>G (p.Gln93Glu)	TBL1XR1 (Q93E +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 2712432	NM_024665.7(TBL1XR1):c.198T>A (p.Ile66=)	TBL1XR1	Single nucleotide variant (synonymous variant +1 more)	Pierpont syndrome	GLikely benign
Select item 2709795	NM_024665.7(TBL1XR1):c.204+10A>G	TBL1XR1	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 2701433	NM_024665.7(TBL1XR1):c.59-3dup	TBL1XR1	Duplication (intron variant)	Pierpont syndrome	GBenign
Select item 2695182	NM_024665.7(TBL1XR1):c.678G>C (p.Lys226Asn)	TBL1XR1 (K226N +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 2691645	NM_024665.7(TBL1XR1):c.1251-19T>C	TBL1XR1	Single nucleotide variant (intron variant)	Pierpont syndrome +1 more	GLikely benign
Select item 2628582	NM_024665.7(TBL1XR1):c.208G>T (p.Gly70Cys)	TBL1XR1 (G70C)	Single nucleotide variant (missense variant +1 more)	TBL1XR1-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 2581100	NM_024665.7(TBL1XR1):c.420dup (p.Ile141fs)	TBL1XR1 (I141fs +1 more)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 41 +1 more	GPathogenic
Select item 2578384	GRCh37/hg19 3q26.32(chr3:176755939-176756243)x1	TBL1XR1	Copy number loss	Intellectual disability, autosomal dominant 41 +1 more	Gnot provided
Select item 2501310	NM_024665.7(TBL1XR1):c.665T>A (p.Val222Asp)	TBL1XR1 (V135D +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2500267	NM_024665.7(TBL1XR1):c.1047+1G>C	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (splice donor variant)	Pierpont syndrome	GPathogenic
Select item 2494686	NM_024665.7(TBL1XR1):c.595A>C (p.Ser199Arg)	TBL1XR1 (S199R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2441990	NM_024665.7(TBL1XR1):c.956ACA[1] (p.Asn320del)	LOC126806878, TBL1XR1 +1 more (N233del +1 more)	Microsatellite (non-coding transcript variant +1 more)	Pierpont syndrome	GUncertain significance
Select item 2421761	NM_024665.7(TBL1XR1):c.428-19C>T	TBL1XR1	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 2420983	NM_024665.7(TBL1XR1):c.1416+20A>G	TBL1XR1	Single nucleotide variant (intron variant)	Pierpont syndrome	GUncertain significance
Select item 2419645	NM_024665.7(TBL1XR1):c.1150G>T (p.Val384Phe)	TBL1XR1 (V297F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2414811	NM_024665.7(TBL1XR1):c.1425T>C (p.Ala475=)	TBL1XR1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 2413867	NM_024665.7(TBL1XR1):c.926-4G>T	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Pierpont syndrome	GLikely benign
Select item 2201792	NM_024665.7(TBL1XR1):c.138C>G (p.Pro46=)	TBL1XR1	Single nucleotide variant (synonymous variant +1 more)	Pierpont syndrome	GLikely benign
Select item 2200612	NM_024665.7(TBL1XR1):c.355A>G (p.Ser119Gly)	TBL1XR1 (S119G +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 2196150	NM_024665.7(TBL1XR1):c.75A>G (p.Ala25=)	TBL1XR1	Single nucleotide variant (synonymous variant +1 more)	Pierpont syndrome	GLikely benign
Select item 2193978	NM_024665.7(TBL1XR1):c.549C>G (p.Leu183=)	TBL1XR1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 2184798	NM_024665.7(TBL1XR1):c.846A>G (p.Leu282=)	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 2180104	NM_024665.7(TBL1XR1):c.767-23_767-18del	TBL1XR1, TBL1XR1-AS1	Microsatellite (intron variant)	Pierpont syndrome	GLikely benign
Select item 2179332	NM_024665.7(TBL1XR1):c.1344A>G (p.Val448=)	TBL1XR1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 2165835	NM_024665.7(TBL1XR1):c.459G>A (p.Gly153=)	TBL1XR1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 2160917	NM_024665.7(TBL1XR1):c.1047+5G>T	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (intron variant)	Pierpont syndrome	GUncertain significance
Select item 2159305	NM_024665.7(TBL1XR1):c.351A>T (p.Ala117=)	TBL1XR1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2151345	NM_024665.7(TBL1XR1):c.619A>G (p.Thr207Ala)	TBL1XR1 (T120A +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 2150908	NM_024665.7(TBL1XR1):c.249G>C (p.Leu83=)	TBL1XR1	Single nucleotide variant (synonymous variant +1 more)	Pierpont syndrome	GUncertain significance

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