ClinVar for MedGen (Select 811568) - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3340445	NM_207037.2(TCF12):c.791del (p.Ser264fs)	TCF12 (S206fs +4 more)	Deletion (frameshift variant +1 more)	TCF12-related craniosynostosis	GPathogenic
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 3075708	NM_207037.2(TCF12):c.1879dup (p.Met627fs)	TCF12 (M367fs +9 more)	Duplication (frameshift variant)	TCF12-related craniosynostosis	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 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 2664498	NM_207037.2(TCF12):c.1746-8T>G	TCF12	Single nucleotide variant (intron variant)	TCF12-related craniosynostosis	GLikely pathogenic
Select item 2412740	NM_207037.2(TCF12):c.1991del (p.Asn664fs)	TCF12 (N494fs +9 more)	Deletion (frameshift variant)	TCF12-related craniosynostosis	GUncertain significance
Select item 2034271	NM_207037.2(TCF12):c.1036-6G>A	TCF12	Single nucleotide variant (intron variant)	TCF12-related craniosynostosis +1 more	GConflicting classifications of pathogenicity
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 1701655	NM_207037.2(TCF12):c.1035+4660C>T	TCF12	Single nucleotide variant (intron variant)	TCF12-related craniosynostosis	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 1335906	NM_207037.2(TCF12):c.826-2A>G	TCF12	Single nucleotide variant (splice acceptor variant)	TCF12-related craniosynostosis	GPathogenic
Select item 1301838	NM_207037.2(TCF12):c.*3A>G	TCF12	Single nucleotide variant (3 prime UTR variant)	TCF12-related craniosynostosis	GLikely benign
Select item 1192534	NM_207037.2(TCF12):c.1807C>T (p.Arg603Trp)	TCF12 (R343W +9 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 26 with or without anosmia +1 more	GUncertain significance
Select item 1184365	NM_207037.2(TCF12):c.*646T>G	TCF12	Single nucleotide variant (3 prime UTR variant +1 more)	TCF12-related craniosynostosis	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 1064628	NM_207037.2(TCF12):c.1261-3C>G	TCF12	Single nucleotide variant (intron variant)	TCF12-related craniosynostosis	GPathogenic
Select item 1033291	NM_207037.2(TCF12):c.801C>T (p.Gly267=)	TCF12	Single nucleotide variant (synonymous variant +1 more)	TCF12-related craniosynostosis	GUncertain significance
Select item 1000138	NM_207037.2(TCF12):c.2068C>T (p.Pro690Ser)	TCF12 (P430S +9 more)	Single nucleotide variant (missense variant)	TCF12-related craniosynostosis +1 more	GUncertain significance
Select item 987901	NM_207037.2(TCF12):c.1808G>A (p.Arg603Gln)	TCF12 (R343Q +9 more)	Single nucleotide variant (missense variant)	TCF12-related craniosynostosis +1 more	GConflicting classifications of pathogenicity
Select item 984943	NM_207037.2(TCF12):c.1907_1908del (p.Lys636fs)	TCF12 (K376fs +9 more)	Deletion (frameshift variant)	TCF12-related craniosynostosis	GPathogenic
Select item 982695	NM_207037.2(TCF12):c.1837C>T (p.Arg613Cys)	TCF12 (R353C +9 more)	Single nucleotide variant (missense variant)	TCF12-related disorder +2 more	GUncertain significance
Select item 930393	NM_207037.2(TCF12):c.1541C>A (p.Ser514Ter)	TCF12 (S254* +9 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 871063	NM_207037.2(TCF12):c.778_779del (p.Met260fs)	TCF12 (M41fs +4 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 692240	NM_207037.2(TCF12):c.786dup (p.Ser263fs)	TCF12 (S44fs +4 more)	Duplication (frameshift variant +1 more)	TCF12-related craniosynostosis +1 more	GPathogenic
Select item 489259	NM_207037.2(TCF12):c.1128G>A (p.Trp376Ter)	TCF12 (W376* +5 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 488842	NM_207037.2(TCF12):c.812C>A (p.Ser271Ter)	TCF12 (S271* +4 more)	Single nucleotide variant (nonsense +1 more)	TCF12-related craniosynostosis +1 more	GPathogenic/Likely pathogenic
Select item 436958	NM_207037.2(TCF12):c.1642_1645del (p.Glu548fs)	TCF12 (E354fs +9 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 374377	NM_207037.2(TCF12):c.1876C>T (p.Arg626Ter)	TCF12 (R626* +9 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 374376	NM_207037.2(TCF12):c.1720A>C (p.Lys574Gln)	TCF12 (K574Q +9 more)	Single nucleotide variant (missense variant)	TCF12-related craniosynostosis	GUncertain significance
Select item 263279	NM_207037.2(TCF12):c.1950C>T (p.Val650=)	TCF12	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 235692	NM_207037.2(TCF12):c.1035+5G>A	TCF12	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 127272	NM_207037.2(TCF12):c.1838G>A (p.Arg613His)	TCF12 (R613H +9 more)	Single nucleotide variant (missense variant)	TCF12-related craniosynostosis	GPathogenic/Likely pathogenic
Select item 127271	NM_207037.2(TCF12):c.1366dup (p.Ile456fs)	TCF12 (I237fs +9 more)	Duplication (frameshift variant)	TCF12-related craniosynostosis	GPathogenic
Select item 127270	NM_207037.2(TCF12):c.1071del (p.Ser358fs)	TCF12 (S122fs +5 more)	Deletion (frameshift variant)	TCF12-related craniosynostosis	GPathogenic
Select item 127269	NM_207037.2(TCF12):c.1000_1001del (p.Gln334fs)	TCF12 (Q98fs +5 more)	Microsatellite (frameshift variant)	TCF12-related craniosynostosis	GPathogenic
Select item 55917	NM_207037.2(TCF12):c.1912C>G (p.Gln638Glu)	TCF12 (Q638E +9 more)	Single nucleotide variant (missense variant)	TCF12-related craniosynostosis	GPathogenic
Select item 55916	NM_207037.2(TCF12):c.1035+3G>C	TCF12	Single nucleotide variant (intron variant)	TCF12-related craniosynostosis	GPathogenic
Select item 55915	NM_207037.2(TCF12):c.1963G>T (p.Glu655Ter)	TCF12 (E655* +9 more)	Single nucleotide variant (nonsense)	TCF12-related craniosynostosis	GPathogenic
Select item 55914	NM_207037.2(TCF12):c.1646del (p.Lys549fs)	TCF12 (K355fs +9 more)	Deletion (frameshift variant)	TCF12-related craniosynostosis	GPathogenic
Select item 55913	NM_207037.2(TCF12):c.722C>G (p.Ser241Ter)	TCF12 (S241* +4 more)	Single nucleotide variant (nonsense +1 more)	TCF12-related craniosynostosis	GPathogenic
Select item 55912	NM_207037.2(TCF12):c.1491dup (p.Val498fs)	TCF12 (V474fs +9 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 55911	NM_207037.2(TCF12):c.842C>G (p.Ser281Ter)	TCF12 (S281* +5 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic

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Items: 45