TCF12[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57881	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1	LOC130057143, LOC130057144 +287 more	Copy number loss	See cases	GPathogenic
Select item 147481	GRCh38/hg38 15q21.2-21.3(chr15:51276690-57088386)x1	ARPP19, ATOSA +176 more	Copy number loss	See cases	GPathogenic
Select item 1300946	NM_207037.2(TCF12):c.-22-335G>A	LOC130057131, TCF12	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1213259	NM_207037.2(TCF12):c.-22-128G>A	TCF12	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1186674	NM_207037.2(TCF12):c.-22-92C>G	TCF12	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1934221	NM_207037.2(TCF12):c.11A>T (p.Gln4Leu)	TCF12 (Q4L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1805150	NM_207037.2(TCF12):c.20dup (p.Met8fs)	TCF12 (M8fs)	Duplication (frameshift variant +1 more)	Hypogonadism with anosmia	GUncertain significance
Select item 2037380	NM_207037.2(TCF12):c.23T>C (p.Met8Thr)	TCF12 (M8T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 744185	NM_207037.2(TCF12):c.57C>T (p.Asp19=)	TCF12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 817307	NM_207037.2(TCF12):c.60del (p.Leu21fs)	TCF12 (L21fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 1987395	NM_207037.2(TCF12):c.75+19G>C	TCF12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326658	NM_207037.2(TCF12):c.75+43TTTG[4]	TCF12	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1214777	NM_207037.2(TCF12):c.75+287G>A	TCF12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1276323	NM_207037.2(TCF12):c.76-205A>G	TCF12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192812	NM_207037.2(TCF12):c.76-45T>C	TCF12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 263283	NM_207037.2(TCF12):c.76-18A>G	TCF12	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2578219	NM_207037.2(TCF12):c.80T>A (p.Phe27Tyr)	TCF12 (F27Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2276492	NM_207037.2(TCF12):c.107C>G (p.Thr36Ser)	TCF12 (T36S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 2493112	NM_207037.2(TCF12):c.130A>G (p.Ser44Gly)	TCF12 (S44G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 263277	NM_207037.2(TCF12):c.135A>G (p.Gln45=)	TCF12	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2577571	NM_207037.2(TCF12):c.143G>A (p.Gly48Glu)	TCF12 (G48E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1231595	NM_207037.2(TCF12):c.148+275G>A	TCF12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2233962	NM_207037.2(TCF12):c.206C>T (p.Ser69Phe)	TCF12 (S69F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1077132	NM_207037.2(TCF12):c.207del (p.Tyr70fs)	TCF12 (Y70fs +1 more)	Deletion (frameshift variant +1 more)	TCF12-related craniosynostosis	GPathogenic
Select item 2572612	NM_207037.2(TCF12):c.222+1G>A	TCF12	Single nucleotide variant (splice donor variant)	Hypogonadotropic hypogonadism 26 with or without anosmia	GLikely pathogenic
Select item 2974461	NM_207037.2(TCF12):c.222+17A>G	TCF12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201024	NM_207037.2(TCF12):c.222+68G>T	TCF12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1258305	NM_207037.2(TCF12):c.222+231C>T	TCF12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3031980	NM_207037.2(TCF12):c.222+8840C>G	TCF12	Single nucleotide variant (5 prime UTR variant +1 more)	TCF12-related condition	GLikely benign
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 1527944	NM_207037.2(TCF12):c.268C>T (p.Arg90Ter)	TCF12 (R102* +2 more)	Single nucleotide variant (nonsense +1 more)	TCF12-related craniosynostosis	GLikely pathogenic
Select item 2635825	NM_207037.2(TCF12):c.296C>T (p.Pro99Leu)	TCF12 (P111L +2 more)	Single nucleotide variant (missense variant +1 more)	TCF12-related condition	GUncertain significance
Select item 263280	NM_207037.2(TCF12):c.297A>G (p.Pro99=)	TCF12	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 1206205	NM_207037.2(TCF12):c.311A>G (p.Asn104Ser)	TCF12 (N104S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
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 2191184	NM_207037.2(TCF12):c.321G>A (p.Leu107=)	TCF12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1705297	NM_207037.2(TCF12):c.325+2T>C	TCF12	Single nucleotide variant (splice donor variant)	TCF12-related craniosynostosis	GLikely pathogenic
Select item 2954974	NM_207037.2(TCF12):c.325+17C>T	TCF12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1283967	NM_207037.2(TCF12):c.326-257G>T	TCF12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208991	NM_207037.2(TCF12):c.326-137T>C	TCF12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1903724	NM_207037.2(TCF12):c.326-13C>G	TCF12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 762070	NM_207037.2(TCF12):c.339G>C (p.Glu113Asp)	TCF12 (E55D +2 more)	Single nucleotide variant (missense variant +1 more)	TCF12-related condition +1 more	GLikely benign
Select item 2620987	NM_207037.2(TCF12):c.341G>A (p.Arg114Lys)	TCF12 (R56K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2579456	NM_207037.2(TCF12):c.356T>C (p.Leu119Pro)	TCF12 (L119P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1800741	NM_207037.2(TCF12):c.367G>C (p.Asp123His)	TCF12 (D123H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2539294	NM_207037.2(TCF12):c.368A>G (p.Asp123Gly)	TCF12 (D135G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2436994	NM_207037.2(TCF12):c.370A>G (p.Thr124Ala)	TCF12 (T124A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1804069	NM_207037.2(TCF12):c.381del (p.Gly128fs)	TCF12 (G128fs +2 more)	Deletion (frameshift variant +1 more)	Global developmental delay +1 more	GLikely pathogenic
Select item 985867	NM_207037.2(TCF12):c.390+5G>A	TCF12	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1238513	NM_207037.2(TCF12):c.390+120C>T	TCF12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178458	NM_207037.2(TCF12):c.390+237A>G	TCF12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207203	NM_207037.2(TCF12):c.390+251T>C	TCF12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1237462	NM_207037.2(TCF12):c.390+268A>G	TCF12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180368	NM_207037.2(TCF12):c.391-144C>A	TCF12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1275243	NM_207037.2(TCF12):c.391-40C>T	TCF12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203002	NM_207037.2(TCF12):c.398T>C (p.Leu133Pro)	TCF12 (L133P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2364039	NM_207037.2(TCF12):c.421G>A (p.Gly141Arg)	TCF12 (G153R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1335910	NM_207037.2(TCF12):c.445del (p.Ser149fs)	TCF12 (S149fs +2 more)	Deletion (frameshift variant +1 more)	HYPOGONADOTROPIC HYPOGONADISM 26 WITH ANOSMIA	GPathogenic
Select item 988331	NM_207037.2(TCF12):c.446C>G (p.Ser149Ter)	TCF12 (S149* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 1307371	NM_207037.2(TCF12):c.454C>T (p.Pro152Ser)	TCF12 (P152S +2 more)	Single nucleotide variant (missense variant +1 more)	TCF12-related condition +1 more	GUncertain significance
Select item 2429445	NM_207037.2(TCF12):c.457G>T (p.Gly153Trp)	TCF12 (G153W +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental delay	GPathogenic
Select item 2499926	NM_207037.2(TCF12):c.461C>T (p.Thr154Ile)	TCF12 (T154I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2573861	NM_207037.2(TCF12):c.478T>C (p.Ser160Pro)	TCF12 (S102P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 784323	NM_207037.2(TCF12):c.521C>T (p.Ala174Val)	TCF12 (A174V +2 more)	Single nucleotide variant (missense variant +1 more)	TCF12-related condition +1 more	GBenign/Likely benign
Select item 2230991	NM_207037.2(TCF12):c.526+1G>A	TCF12	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GUncertain significance
Select item 2970741	NM_207037.2(TCF12):c.526+17A>T	TCF12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2808701	NM_207037.2(TCF12):c.526+17A>G	TCF12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1290305	NM_207037.2(TCF12):c.526+122G>A	TCF12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215047	NM_207037.2(TCF12):c.526+188T>A	TCF12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271886	NM_207037.2(TCF12):c.527-228C>T	TCF12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1619322	NM_207037.2(TCF12):c.527-19T>G	TCF12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1696056	NM_207037.2(TCF12):c.527-6C>A	TCF12	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 524061	NM_207037.2(TCF12):c.548_551del (p.Val183fs)	TCF12 (V183fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 2278796	NM_207037.2(TCF12):c.562C>T (p.Pro188Ser)	TCF12 (P130S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1343139	NM_207037.2(TCF12):c.579+2T>C	TCF12	Single nucleotide variant (splice donor variant)	Developmental disorder	GLikely pathogenic
Select item 2809904	NM_207037.2(TCF12):c.579+5G>T	TCF12	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 263281	NM_207037.2(TCF12):c.579+11A>G	TCF12	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1220830	NM_207037.2(TCF12):c.579+222T>A	TCF12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276960	NM_207037.2(TCF12):c.579+267A>G	TCF12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194892	NM_207037.2(TCF12):c.580-11913C>T	TCF12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2274515	NM_207037.2(TCF12):c.580-11627T>C	TCF12 (Y2H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3032004	NM_207037.2(TCF12):c.580-11601G>C	TCF12 (M10I)	Single nucleotide variant (missense variant +2 more)	TCF12-related condition	GLikely benign
Select item 1280270	NM_207037.2(TCF12):c.580-11414dup	TCF12	Duplication (intron variant)	not provided	GBenign
Select item 1217757	NM_207037.2(TCF12):c.580-11415_580-11414dup	TCF12	Duplication (intron variant)	not provided	GLikely benign
Select item 1243319	NM_207037.2(TCF12):c.580-11414del	TCF12	Deletion (intron variant)	not provided	GBenign
Select item 1188590	NM_207037.2(TCF12):c.580-11405del	TCF12	Deletion (intron variant)	not provided	GLikely benign
Select item 1274528	NM_207037.2(TCF12):c.580-11386C>T	TCF12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214468	NM_207037.2(TCF12):c.580-11355C>T	TCF12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199824	NM_207037.2(TCF12):c.580-11292G>A	TCF12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287295	NM_207037.2(TCF12):c.580-187_580-186dup	TCF12	Duplication (intron variant)	not provided	GBenign
Select item 1243448	NM_207037.2(TCF12):c.580-186dup	TCF12	Duplication (intron variant)	not provided	GBenign
Select item 1191843	NM_207037.2(TCF12):c.580-81C>A	TCF12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 263282	NM_207037.2(TCF12):c.580-12T>C	TCF12	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 504094	NM_207037.2(TCF12):c.584_585del (p.Tyr195fs)	TCF12 (Y207fs +4 more)	Microsatellite (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 2461896	NM_207037.2(TCF12):c.584A>G (p.Tyr195Cys)	TCF12 (Y207C +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1335909	NM_207037.2(TCF12):c.596dup (p.Asn200fs)	TCF12 (N142fs +4 more)	Duplication (frameshift variant +1 more)	HYPOGONADOTROPIC HYPOGONADISM 26 WITH ANOSMIA	GPathogenic
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 condition	GUncertain significance
Select item 2571722	NM_207037.2(TCF12):c.595_600del (p.Pro199_Asn200del)	TCF12	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance

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