ClinVar for Gene (Select 7082) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3177666	NM_001330239.4(TJP1):c.974A>T (p.His325Leu)	LOC126862086, TJP1 (H418L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177665	NM_001330239.4(TJP1):c.961G>A (p.Glu321Lys)	LOC126862086, TJP1 (E325K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177664	NM_001330239.4(TJP1):c.892G>C (p.Asp298His)	LOC126862086, TJP1 (D298H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177663	NM_001330239.4(TJP1):c.799A>T (p.Thr267Ser)	LOC126862086, TJP1 (T267S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177662	NM_001330239.4(TJP1):c.5248G>A (p.Gly1750Arg)	TJP1 (G1650R +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177661	NM_001330239.4(TJP1):c.4522G>A (p.Ala1508Thr)	TJP1 (A1432T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177660	NM_001330239.4(TJP1):c.4436A>G (p.Gln1479Arg)	TJP1 (Q1479R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177659	NM_001330239.4(TJP1):c.4312C>T (p.Pro1438Ser)	TJP1 (P1358S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177658	NM_001330239.4(TJP1):c.4301A>G (p.Gln1434Arg)	TJP1 (Q1358R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177657	NM_001330239.4(TJP1):c.4286C>T (p.Pro1429Leu)	TJP1 (P1349L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177656	NM_001330239.4(TJP1):c.4246G>A (p.Glu1416Lys)	TJP1 (E1336K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177655	NM_001330239.4(TJP1):c.4235G>A (p.Arg1412Lys)	TJP1 (R1336K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177654	NM_001330239.4(TJP1):c.4226G>A (p.Gly1409Asp)	TJP1 (G1409D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177653	NM_001330239.4(TJP1):c.4042C>T (p.Pro1348Ser)	TJP1 (P1348S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177651	NM_001330239.4(TJP1):c.3623C>T (p.Thr1208Ile)	LOC126862085, TJP1 (T1208I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177650	NM_001330239.4(TJP1):c.3307C>T (p.Arg1103Trp)	LOC126862085, TJP1 (R1023W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177648	NM_001330239.4(TJP1):c.3197A>G (p.Tyr1066Cys)	LOC126862085, TJP1 (Y1070C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177647	NM_001330239.4(TJP1):c.2981C>T (p.Ser994Leu)	TJP1 (S994L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177646	NM_001330239.4(TJP1):c.2980T>C (p.Ser994Pro)	TJP1 (S1087P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177645	NM_001330239.4(TJP1):c.2825C>T (p.Thr942Ile)	TJP1 (T1035I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177644	NM_001330239.4(TJP1):c.2765A>G (p.Lys922Arg)	TJP1 (K1015R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177643	NM_001330239.4(TJP1):c.2723A>G (p.His908Arg)	TJP1 (H912R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177642	NM_001330239.4(TJP1):c.2687C>A (p.Pro896His)	TJP1 (P896H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177641	NM_001330239.4(TJP1):c.2591A>G (p.Asp864Gly)	TJP1 (D868G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177639	NM_001330239.4(TJP1):c.2263T>A (p.Tyr755Asn)	TJP1 (Y759N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177638	NM_001330239.4(TJP1):c.2215A>G (p.Met739Val)	TJP1 (M743V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177637	NM_001330239.4(TJP1):c.2179T>C (p.Phe727Leu)	TJP1 (F727L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177636	NM_001330239.4(TJP1):c.1885A>G (p.Lys629Glu)	TJP1 (K722E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177635	NM_001330239.4(TJP1):c.1754G>C (p.Ser585Thr)	TJP1 (S589T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177634	NM_001330239.4(TJP1):c.1619G>A (p.Gly540Glu)	TJP1 (G540E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177632	NM_001330239.4(TJP1):c.160A>G (p.Ile54Val)	TJP1 (I54V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063391	GRCh37/hg19 15q11.2-13.3(chr15:23748021-32444261)x1	APBA2, ARHGAP11B +37 more	Copy number loss	not specified	GPathogenic
Select item 3063381	GRCh37/hg19 15q11.2-14(chr15:22836883-39108014)x1	ACTC1, APBA2 +72 more	Copy number loss	not specified	GPathogenic
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 3063348	GRCh37/hg19 15q11.2-13.3(chr15:22770421-32446830)x3	APBA2, ARHGAP11B +42 more	Copy number gain	not specified	GPathogenic
Select item 3062004	GRCh38/hg38 15q11.2-13.1(chr15:22612582-29993699)	APBA2, ATP10A +189 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 3062003	GRCh38/hg38 15q11.2-13.3(chr15:22612582-32116118)	APBA2, ARHGAP11B +227 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 3060817	NM_001330239.4(TJP1):c.4161G>T (p.Ala1387=)	TJP1	Single nucleotide variant (synonymous variant)	TJP1-related disorder	GBenign
Select item 3060777	NM_001330239.4(TJP1):c.3877-8_3877-7del	LOC126862085, TJP1	Deletion (intron variant)	TJP1-related disorder	GBenign
Select item 3059277	NM_001330239.4(TJP1):c.4128C>T (p.Ala1376=)	TJP1	Single nucleotide variant (synonymous variant)	TJP1-related disorder	GBenign
Select item 3056901	NM_001355012.2(TJP1):c.60C>G (p.Arg20=)	TJP1	Single nucleotide variant (synonymous variant)	TJP1-related disorder	GBenign
Select item 3056593	NM_001330239.4(TJP1):c.4040A>C (p.Asp1347Ala)	TJP1 (D1267A +4 more)	Single nucleotide variant (missense variant)	TJP1-related disorder	GBenign
Select item 3056576	NM_001330239.4(TJP1):c.1086C>T (p.His362=)	TJP1	Single nucleotide variant (synonymous variant)	TJP1-related disorder	GBenign
Select item 3056383	NM_001330239.4(TJP1):c.3111G>C (p.Leu1037=)	LOC126862085, TJP1	Single nucleotide variant (synonymous variant)	TJP1-related disorder	GBenign
Select item 3056098	NM_001330239.4(TJP1):c.2368A>G (p.Ile790Val)	TJP1 (I790V +2 more)	Single nucleotide variant (missense variant)	TJP1-related disorder	GBenign
Select item 3052496	NM_001330239.4(TJP1):c.3333T>G (p.Ser1111=)	LOC126862085, TJP1	Single nucleotide variant (synonymous variant)	TJP1-related disorder	GLikely benign
Select item 3050288	NM_001330239.4(TJP1):c.4464A>G (p.Pro1488=)	TJP1	Single nucleotide variant (synonymous variant)	TJP1-related disorder	GLikely benign
Select item 3048847	NM_001330239.4(TJP1):c.3519G>A (p.Pro1173=)	LOC126862085, TJP1	Single nucleotide variant (synonymous variant)	TJP1-related disorder	GLikely benign
Select item 3047597	NM_001330239.4(TJP1):c.5094G>A (p.Val1698=)	TJP1	Single nucleotide variant (synonymous variant)	TJP1-related disorder	GLikely benign
Select item 3046397	NM_001330239.4(TJP1):c.5157G>A (p.Ala1719=)	TJP1	Single nucleotide variant (synonymous variant +1 more)	TJP1-related disorder	GLikely benign
Select item 3044275	NM_001330239.4(TJP1):c.1737-9C>G	TJP1	Single nucleotide variant (intron variant)	TJP1-related disorder	GBenign
Select item 3044171	NM_001330239.4(TJP1):c.2241T>G (p.Ser747=)	TJP1	Single nucleotide variant (synonymous variant)	TJP1-related disorder	GLikely benign
Select item 3044006	NM_001330239.4(TJP1):c.4032T>C (p.Asn1344=)	TJP1	Single nucleotide variant (synonymous variant)	TJP1-related disorder	GLikely benign
Select item 3043949	NM_001330239.4(TJP1):c.3230G>A (p.Arg1077His)	LOC126862085, TJP1 (R1001H +4 more)	Single nucleotide variant (missense variant)	TJP1-related disorder	GLikely benign
Select item 3043274	NM_001330239.4(TJP1):c.2017+9C>A	TJP1	Single nucleotide variant (intron variant)	TJP1-related disorder	GLikely benign
Select item 3042194	NM_001355012.2(TJP1):c.156G>C (p.Pro52=)	TJP1	Single nucleotide variant (synonymous variant)	TJP1-related disorder	GBenign
Select item 3041919	NM_001330239.4(TJP1):c.822T>C (p.Leu274=)	LOC126862086, TJP1	Single nucleotide variant (synonymous variant)	TJP1-related disorder	GBenign
Select item 3041572	NM_001355012.2(TJP1):c.173+7C>G	TJP1	Single nucleotide variant (intron variant)	TJP1-related disorder	GLikely benign
Select item 3041210	NM_001330239.4(TJP1):c.3877-9_3877-7del	LOC126862085, TJP1	Deletion (intron variant)	TJP1-related disorder	GBenign
Select item 3040102	NM_001330239.4(TJP1):c.2559C>T (p.Tyr853=)	TJP1	Single nucleotide variant (synonymous variant)	TJP1-related disorder	GBenign
Select item 3039763	NM_001330239.4(TJP1):c.3070G>A (p.Val1024Ile)	LOC126862085, TJP1 (V1024I +4 more)	Single nucleotide variant (missense variant)	TJP1-related disorder	GLikely benign
Select item 3038792	NM_001330239.4(TJP1):c.5016T>C (p.Tyr1672=)	TJP1	Single nucleotide variant (synonymous variant)	TJP1-related disorder	GLikely benign
Select item 3035457	NM_001330239.4(TJP1):c.5106C>T (p.Pro1702=)	TJP1	Single nucleotide variant (synonymous variant)	TJP1-related disorder	GLikely benign
Select item 3033497	NM_001330239.4(TJP1):c.313-4G>T	TJP1	Single nucleotide variant (intron variant)	TJP1-related disorder	GLikely benign
Select item 2685504	GRCh37/hg19 15q13.1-13.2(chr15:29010256-30386553)x1	APBA2, ENTREP2 +3 more	Copy number loss	not provided	GUncertain significance
Select item 2684751	GRCh37/hg19 15q13.1(chr15:29307904-30212730)x3	APBA2, ENTREP2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2684749	GRCh37/hg19 15q11.2-13.3(chr15:22770422-32915593)x3	APBA2, ARHGAP11A +45 more	Copy number gain	not provided	GPathogenic
Select item 2684748	GRCh37/hg19 15q11.2-14(chr15:22770422-36556562)x3	ACTC1, APBA2 +65 more	Copy number gain	not provided	GPathogenic
Select item 2672599	GRCh37/hg19 15q13.1-13.3(chr15:29488634-31342785)x1	FAN1, ARHGAP11B +8 more	Copy number loss	not provided	GPathogenic
Select item 2671594	Single allele	APBA2, ARHGAP11B +42 more	Duplication	not provided	GPathogenic
Select item 2645099	NM_001330239.4(TJP1):c.2071C>T (p.Leu691=)	TJP1	Single nucleotide variant (synonymous variant)	TJP1-related disorder +1 more	GBenign/Likely benign
Select item 2645098	NM_001330239.4(TJP1):c.2415G>A (p.Ala805=)	TJP1	Single nucleotide variant (synonymous variant)	TJP1-related disorder +1 more	GLikely benign
Select item 2645097	NM_001330239.4(TJP1):c.2712A>C (p.Pro904=)	TJP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2623171	NM_001330239.4(TJP1):c.3700C>T (p.Pro1234Ser)	LOC126862085, TJP1 (P1158S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622784	NM_001330239.4(TJP1):c.3928C>T (p.Pro1310Ser)	LOC126862085, TJP1 (P1234S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622556	NM_001330239.4(TJP1):c.919C>T (p.Pro307Ser)	LOC126862086, TJP1 (P311S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618444	NM_001330239.4(TJP1):c.2375A>T (p.Gln792Leu)	TJP1 (Q796L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615542	NM_001330239.4(TJP1):c.5042T>C (p.Ile1681Thr)	TJP1 (I1681T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609780	NM_001330239.4(TJP1):c.70G>C (p.Val24Leu)	TJP1 (V117L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609125	NM_001330239.4(TJP1):c.3308G>A (p.Arg1103Gln)	LOC126862085, TJP1 (R1196Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600586	NM_001330239.4(TJP1):c.1523G>A (p.Arg508His)	TJP1 (R601H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597302	NM_001330239.4(TJP1):c.4763G>A (p.Ser1588Asn)	TJP1 (S1588N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596542	NM_001330239.4(TJP1):c.4928A>G (p.Asn1643Ser)	TJP1 (N1736S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596121	NM_001330239.4(TJP1):c.3659C>G (p.Ala1220Gly)	LOC126862085, TJP1 (A1140G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591666	NM_001330239.4(TJP1):c.929G>A (p.Arg310His)	LOC126862086, TJP1 (R310H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2590504	NM_001330239.4(TJP1):c.1004A>G (p.Asn335Ser)	LOC126862086, TJP1 (N339S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2574688	GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386398)	APBA2, ATP10A +32 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 2570114	NM_001330239.4(TJP1):c.2425A>G (p.Thr809Ala)	TJP1 (T813A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528345	NM_001330239.4(TJP1):c.3890C>T (p.Ala1297Val)	LOC126862085, TJP1 (A1217V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527258	NM_001330239.4(TJP1):c.2269C>G (p.Arg757Gly)	TJP1 (R850G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523539	NM_001330239.4(TJP1):c.3151A>G (p.Ser1051Gly)	LOC126862085, TJP1 (S1051G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520137	NM_001330239.4(TJP1):c.4364A>G (p.His1455Arg)	TJP1 (H1379R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517288	NM_001330239.4(TJP1):c.578G>A (p.Arg193Gln)	TJP1 (R193Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517216	NM_001330239.4(TJP1):c.5218C>T (p.Pro1740Ser)	TJP1 (P1833S +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514980	NM_001330239.4(TJP1):c.467C>T (p.Pro156Leu)	TJP1 (P156L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510612	NM_001330239.4(TJP1):c.911A>G (p.His304Arg)	LOC126862086, TJP1 (H397R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495386	NM_001330239.4(TJP1):c.845A>G (p.Asn282Ser)	LOC126862086, TJP1 (N375S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489513	NM_001330239.4(TJP1):c.2735C>A (p.Ser912Tyr)	TJP1 (S912Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467063	NM_001330239.4(TJP1):c.3157G>C (p.Asp1053His)	LOC126862085, TJP1 (D1053H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464518	NM_001330239.4(TJP1):c.935G>A (p.Arg312Gln)	LOC126862086, TJP1 (R312Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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