ClinVar for MedGen (Select 356049) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3727750	NM_024665.7(TBL1XR1):c.1167A>G (p.Ala389=)	TBL1XR1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 3727667	NM_024665.7(TBL1XR1):c.1518+8T>C	TBL1XR1	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 3725361	NM_024665.7(TBL1XR1):c.427+16A>G	TBL1XR1	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 3716602	NM_024665.7(TBL1XR1):c.1518+14dup	TBL1XR1	Duplication (intron variant)	Pierpont syndrome	GLikely benign
Select item 3713200	NM_024665.7(TBL1XR1):c.560+13A>G	TBL1XR1	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 3708860	NM_024665.7(TBL1XR1):c.424G>A (p.Ala142Thr)	TBL1XR1 (A55T +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 3706563	NM_024665.7(TBL1XR1):c.1048-11A>G	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 3697205	NM_024665.7(TBL1XR1):c.926-16C>T	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Pierpont syndrome	GLikely benign
Select item 3686438	NM_024665.7(TBL1XR1):c.345_353dup (p.Ala118_Ser119insAlaAlaAla)	TBL1XR1	Duplication	Pierpont syndrome	GUncertain significance
Select item 3676698	NM_024665.7(TBL1XR1):c.1078A>G (p.Thr360Ala)	LOC126806878, TBL1XR1 +1 more (T273A +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 3673967	NM_024665.7(TBL1XR1):c.1251-4T>C	TBL1XR1	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 3673032	NM_024665.7(TBL1XR1):c.428-14G>A	TBL1XR1	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 3665439	NM_024665.7(TBL1XR1):c.1123A>G (p.Ile375Val)	TBL1XR1 (I375V +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 3661125	NM_024665.7(TBL1XR1):c.1250+16C>T	TBL1XR1	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 3651057	NM_024665.7(TBL1XR1):c.504T>C (p.His168=)	TBL1XR1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 3645711	NM_024665.7(TBL1XR1):c.865-17T>C	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 3644321	NM_024665.7(TBL1XR1):c.1098C>A (p.Ser366=)	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 3640472	NM_024665.7(TBL1XR1):c.377dup (p.Asn126fs)	TBL1XR1 (N126fs +1 more)	Duplication (frameshift variant)	Pierpont syndrome	GPathogenic
Select item 3640457	NM_024665.7(TBL1XR1):c.865-9del	TBL1XR1, TBL1XR1-AS1	Deletion (intron variant)	Pierpont syndrome	GBenign
Select item 3639988	NM_024665.7(TBL1XR1):c.886C>T (p.His296Tyr)	TBL1XR1, TBL1XR1-AS1 (H296Y +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 3639263	NM_024665.7(TBL1XR1):c.703-9C>G	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 3635805	NM_024665.7(TBL1XR1):c.444G>T (p.Met148Ile)	TBL1XR1 (M148I +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 3635804	NM_024665.7(TBL1XR1):c.649G>C (p.Glu217Gln)	TBL1XR1 (E130Q +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 3635803	NM_024665.7(TBL1XR1):c.859G>C (p.Asp287His)	TBL1XR1, TBL1XR1-AS1 (D200H +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 3635802	NM_024665.7(TBL1XR1):c.1000T>A (p.Cys334Ser)	LOC126806878, TBL1XR1 +1 more (C247S +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 3635801	NM_024665.7(TBL1XR1):c.1078A>T (p.Thr360Ser)	LOC126806878, TBL1XR1 +1 more (T273S +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 3635800	NM_024665.7(TBL1XR1):c.1132A>T (p.Met378Leu)	TBL1XR1 (M378L +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 3635799	NM_024665.7(TBL1XR1):c.1159T>A (p.Leu387Met)	TBL1XR1 (L387M +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 3623677	NM_024665.7(TBL1XR1):c.926-9C>G	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Pierpont syndrome	GLikely benign
Select item 3622813	NM_024665.7(TBL1XR1):c.867T>C (p.Thr289=)	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 3622506	NM_024665.7(TBL1XR1):c.205-24TC[2]	TBL1XR1	Microsatellite (intron variant)	Pierpont syndrome	GLikely benign
Select item 3621247	NM_024665.7(TBL1XR1):c.1214G>A (p.Gly405Glu)	TBL1XR1 (G318E +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 3620813	NM_024665.7(TBL1XR1):c.205-17del	TBL1XR1	Deletion (intron variant)	Pierpont syndrome	GLikely benign
Select item 3619930	NM_024665.7(TBL1XR1):c.1123-14del	TBL1XR1	Deletion (intron variant)	Pierpont syndrome	GBenign
Select item 3611673	NM_024665.7(TBL1XR1):c.427+15G>T	TBL1XR1	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 3608160	NM_024665.7(TBL1XR1):c.303T>C (p.Asp101=)	TBL1XR1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 3607711	NM_024665.7(TBL1XR1):c.428-4G>T	TBL1XR1	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 3588945	NM_024665.7(TBL1XR1):c.538G>A (p.Val180Ile)	TBL1XR1 (V93I +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 41 +1 more	GUncertain significance
Select item 3588944	NM_024665.7(TBL1XR1):c.922T>C (p.Ser308Pro)	TBL1XR1, TBL1XR1-AS1 (S308P +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 41 +1 more	GLikely pathogenic
Select item 3382188	NM_024665.7(TBL1XR1):c.853G>A (p.Gly285Arg)	TBL1XR1, TBL1XR1-AS1 (G198R +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome +1 more	GLikely pathogenic
Select item 3339953	NM_024665.7(TBL1XR1):c.1048-15T>G	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
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 3068347	NM_024665.7(TBL1XR1):c.1010G>A (p.Gly337Glu)	LOC126806878, TBL1XR1 +1 more (G250E +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 41 +1 more	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	GLikely pathogenic
Select item 2772237	NM_024665.7(TBL1XR1):c.1346C>T (p.Ala449Val)	TBL1XR1 (A362V +1 more)	Single nucleotide variant (missense variant)	not provided +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

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