ClinVar for Gene (Select 6938) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370118	NM_207037.2(TCF12):c.19C>T (p.Arg7Cys)	TCF12 (R7C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3369183	NM_207037.2(TCF12):c.1523C>A (p.Ser508Tyr)	TCF12 (S248Y +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368965	NM_207037.2(TCF12):c.1619C>G (p.Thr540Arg)	TCF12 (T280R +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368131	NM_207037.2(TCF12):c.798_800dup (p.Gly267_Asn268insGly)	TCF12	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 3367932	NM_207037.2(TCF12):c.1189-6T>A	TCF12	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3367429	NM_207037.2(TCF12):c.1795G>C (p.Glu599Gln)	TCF12 (E339Q +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367160	NM_207037.2(TCF12):c.1832G>A (p.Arg611His)	TCF12 (R351H +9 more)	Single nucleotide variant (missense variant)	TCF12-related craniosynostosis	GLikely pathogenic
Select item 3365672	NM_207037.2(TCF12):c.505C>T (p.Leu169Phe)	TCF12 (L111F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3365603	NM_207037.2(TCF12):c.526+5G>C	TCF12	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3365214	NM_207037.2(TCF12):c.1361G>A (p.Ser454Asn)	TCF12 (S194N +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364861	NM_207037.2(TCF12):c.1287C>G (p.Asp429Glu)	TCF12 (D169E +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364647	NM_207037.2(TCF12):c.419T>C (p.Leu140Pro)	TCF12 (L140P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3364213	NM_207037.2(TCF12):c.706G>T (p.Asp236Tyr)	TCF12 (D178Y +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3363959	NM_207037.2(TCF12):c.1983G>C (p.Arg661Ser)	TCF12 (R661S +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363901	NM_207037.2(TCF12):c.241C>G (p.His81Asp)	TCF12 (H23D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3363900	NM_207037.2(TCF12):c.254A>C (p.His85Pro)	TCF12 (H27P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3363667	NM_207037.2(TCF12):c.1139G>T (p.Gly380Val)	TCF12 (G144V +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360983	NM_207037.2(TCF12):c.1297G>T (p.Asp433Tyr)	TCF12 (D173Y +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360937	NM_207037.2(TCF12):c.617G>T (p.Arg206Leu)	TCF12 (R148L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360836	NM_207037.2(TCF12):c.1016T>C (p.Leu339Pro)	TCF12 (L103P +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360013	NM_207037.2(TCF12):c.458G>A (p.Gly153Glu)	TCF12 (G153E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3343949	NM_207037.2(TCF12):c.1099C>T (p.Pro367Ser)	TCF12 (P131S +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343948	NM_207037.2(TCF12):c.1094G>A (p.Gly365Glu)	TCF12 (G129E +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343898	NM_207037.2(TCF12):c.1948G>C (p.Val650Leu)	TCF12 (V390L +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343058	NM_207037.2(TCF12):c.1252G>A (p.Val418Ile)	TCF12 (V199I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3342413	NM_207037.2(TCF12):c.1277A>T (p.Asp426Val)	TCF12 (D166V +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340445	NM_207037.2(TCF12):c.791del (p.Ser264fs)	TCF12 (S206fs +4 more)	Deletion (frameshift variant +1 more)	TCF12-related craniosynostosis	GPathogenic
Select item 3336960	NM_207037.2(TCF12):c.326-2A>G	TCF12	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3324938	NM_207037.2(TCF12):c.22A>G (p.Met8Val)	TCF12 (M8V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3324937	NM_207037.2(TCF12):c.1816A>T (p.Asn606Tyr)	TCF12 (N524Y +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324936	NM_207037.2(TCF12):c.1705T>C (p.Ser569Pro)	TCF12 (S375P +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324935	NM_207037.2(TCF12):c.1760A>G (p.Asp587Gly)	TCF12 (D327G +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324934	NM_207037.2(TCF12):c.2041G>A (p.Val681Ile)	TCF12 (V421I +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324933	NM_207037.2(TCF12):c.739C>T (p.Pro247Ser)	TCF12 (P189S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3324932	NM_207037.2(TCF12):c.163G>C (p.Gly55Arg)	TCF12 (G55R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3255079	NM_207037.2(TCF12):c.1054_1055dup (p.Ser353fs)	TCF12 (S117fs +5 more)	Duplication (frameshift variant)	TCF12-related craniosynostosis	GPathogenic
Select item 3255076	NM_207037.2(TCF12):c.1952T>G (p.Ile651Ser)	TCF12 (I391S +9 more)	Single nucleotide variant (missense variant)	TCF12-related craniosynostosis	GUncertain significance
Select item 3253528	NM_207037.2(TCF12):c.1333C>A (p.Pro445Thr)	TCF12 (P185T +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253306	NM_207037.2(TCF12):c.1843C>T (p.Arg615Trp)	TCF12 (R355W +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253132	NM_207037.2(TCF12):c.2035T>C (p.Ser679Pro)	TCF12 (S419P +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3243929	NC_000015.9:g.(?_57523330)_(57574785_?)dup	TCF12	Duplication	not provided	GUncertain significance
Select item 3233485	NM_207037.2(TCF12):c.1449C>A (p.Ser483Arg)	TCF12 (S223R +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175096	NM_207037.2(TCF12):c.960C>G (p.Asp320Glu)	TCF12 (D150E +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3175095	NM_207037.2(TCF12):c.821G>A (p.Arg274His)	TCF12 (R216H +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3175094	NM_207037.2(TCF12):c.696C>A (p.His232Gln)	TCF12 (H174Q +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3175093	NM_207037.2(TCF12):c.1666C>T (p.Pro556Ser)	TCF12 (P296S +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175091	NM_207037.2(TCF12):c.1540dup (p.Ser514fs)	TCF12 (S295fs +9 more)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 3175090	NM_207037.2(TCF12):c.1502A>G (p.Asn501Ser)	TCF12 (N307S +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175089	NM_207037.2(TCF12):c.1483del (p.Glu495fs)	TCF12 (E494fs +9 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 3175087	NM_207037.2(TCF12):c.1198G>A (p.Val400Ile)	TCF12 (V181I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3175086	NM_207037.2(TCF12):c.1132A>G (p.Arg378Gly)	TCF12 (R142G +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3075708	NM_207037.2(TCF12):c.1879dup (p.Met627fs)	TCF12 (M367fs +9 more)	Duplication (frameshift variant)	TCF12-related craniosynostosis	GPathogenic
Select item 3063359	GRCh37/hg19 15q21.3(chr15:57002950-57350938)x3	TCF12, ZNF280D	Copy number gain	not specified	GPathogenic
Select item 3062270	NM_207037.2(TCF12):c.655del (p.Ser219fs)	TCF12 (S161fs +4 more)	Deletion (frameshift variant +1 more)	TCF12-related craniosynostosis	GLikely pathogenic
Select item 3043065	NM_207037.2(TCF12):c.1583-8T>C	TCF12	Single nucleotide variant (intron variant)	TCF12-related disorder	GLikely benign
Select item 3040515	NM_207037.2(TCF12):c.1452T>C (p.Ser484=)	TCF12	Single nucleotide variant (synonymous variant)	TCF12-related disorder	GLikely benign
Select item 3036045	NM_207037.2(TCF12):c.1140A>C (p.Gly380=)	TCF12	Single nucleotide variant (synonymous variant)	TCF12-related disorder	GLikely benign
Select item 3032004	NM_207037.2(TCF12):c.580-11601G>C	TCF12 (M10I)	Single nucleotide variant (missense variant +2 more)	TCF12-related disorder	GLikely benign
Select item 3031980	NM_207037.2(TCF12):c.222+8840C>G	TCF12	Single nucleotide variant (5 prime UTR variant +1 more)	TCF12-related disorder	GLikely benign
Select item 3031226	NM_207037.2(TCF12):c.595C>G (p.Pro199Ala)	TCF12 (P141A +3 more)	Single nucleotide variant (missense variant +2 more)	TCF12-related disorder	GUncertain significance
Select item 3026947	NM_207037.2(TCF12):c.503C>T (p.Pro168Leu)	TCF12 (P110L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3026516	NM_207037.2(TCF12):c.1870C>T (p.Leu624Phe)	TCF12 (L364F +9 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2981090	NM_207037.2(TCF12):c.1036-19T>G	TCF12	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2976706	NM_207037.2(TCF12):c.939T>G (p.Thr313=)	TCF12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974461	NM_207037.2(TCF12):c.222+17A>G	TCF12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970741	NM_207037.2(TCF12):c.526+17A>T	TCF12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964330	NM_207037.2(TCF12):c.685+18A>T	TCF12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959788	NM_207037.2(TCF12):c.825+14C>T	TCF12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956127	NM_207037.2(TCF12):c.1316G>A (p.Arg439Gln)	TCF12 (R269Q +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2954974	NM_207037.2(TCF12):c.325+17C>T	TCF12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2896908	NM_207037.2(TCF12):c.112C>T (p.Pro38Ser)	TCF12 (P38S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2893132	NM_207037.2(TCF12):c.1185C>G (p.Ser395=)	TCF12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887801	NM_207037.2(TCF12):c.1929T>C (p.Ile643=)	TCF12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2862034	NM_207037.2(TCF12):c.1119C>G (p.Thr373=)	TCF12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2860485	NM_207037.2(TCF12):c.674dup (p.Phe226fs)	TCF12 (F168fs +5 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2853853	NM_207037.2(TCF12):c.1936C>T (p.Gln646Ter)	TCF12 (Q564* +9 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2843625	NM_207037.2(TCF12):c.233A>G (p.Asp78Gly)	TCF12 (D20G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2812008	NM_207037.2(TCF12):c.686-1G>A	TCF12	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GLikely pathogenic
Select item 2809904	NM_207037.2(TCF12):c.579+5G>T	TCF12	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 2808701	NM_207037.2(TCF12):c.526+17A>G	TCF12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2780271	NM_207037.2(TCF12):c.1456T>C (p.Ser486Pro)	TCF12 (S226P +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2761017	NM_207037.2(TCF12):c.1593_1594del (p.Gln533fs)	TCF12 (Q451fs +9 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2756825	NM_207037.2(TCF12):c.1508A>G (p.Asn503Ser)	TCF12 (N284S +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2752162	NM_207037.2(TCF12):c.1927A>T (p.Ile643Phe)	TCF12 (I473F +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2743124	NM_207037.2(TCF12):c.1645A>T (p.Lys549Ter)	TCF12 (K467* +9 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2742766	NM_207037.2(TCF12):c.1837del (p.Arg613fs)	TCF12 (R353fs +9 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2735333	NM_207037.2(TCF12):c.1896del (p.Lys633fs)	TCF12 (K609fs +9 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2732434	NM_207037.2(TCF12):c.1838G>T (p.Arg613Leu)	TCF12 (R353L +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2723899	NM_207037.2(TCF12):c.1382dup (p.Pro462fs)	TCF12 (P438fs +9 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2720028	NM_207037.2(TCF12):c.1951A>T (p.Ile651Phe)	TCF12 (I391F +9 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2710020	NM_207037.2(TCF12):c.1282_1283insGG (p.Leu428fs)	TCF12 (L234fs +9 more)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 2707938	NM_207037.2(TCF12):c.1911C>G (p.Pro637=)	TCF12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2704551	NM_207037.2(TCF12):c.1780C>T (p.Gln594Ter)	TCF12 (Q570* +9 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2693285	NM_207037.2(TCF12):c.1589T>A (p.Leu530Ter)	TCF12 (L270* +9 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2692470	NM_207037.2(TCF12):c.784C>T (p.Gln262Ter)	TCF12 (Q274* +4 more)	Single nucleotide variant (nonsense +1 more)	TCF12-related craniosynostosis	GLikely pathogenic
Select item 2690970	NM_207037.2(TCF12):c.1597C>T (p.Gln533Ter)	TCF12 (Q273* +9 more)	Single nucleotide variant (nonsense)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2690969	NM_207037.2(TCF12):c.314C>A (p.Ser105Ter)	TCF12 (S105* +2 more)	Single nucleotide variant (nonsense +1 more)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2685517	GRCh37/hg19 15q21.3-22.2(chr15:54020810-62086530)x1	ADAM10, ALDH1A2 +35 more	Copy number loss	not provided	GPathogenic
Select item 2664498	NM_207037.2(TCF12):c.1746-8T>G	TCF12	Single nucleotide variant (intron variant)	TCF12-related craniosynostosis	GLikely pathogenic
Select item 2636494	NM_207037.2(TCF12):c.1758A>C (p.Glu586Asp)	TCF12 (E326D +9 more)	Single nucleotide variant (missense variant)	TCF12-related disorder	GUncertain significance

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