Related gene-specific medical variations for Gene (Select 6938) - ClinVar - NCBI

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Links from Gene

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243929	NC_000015.9:g.(?_57523330)_(57574785_?)dup	TCF12	Duplication	not provided	GUncertain significance
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 2582606	NM_207037.2(TCF12):c.1490_1491del (p.Ser497fs)	TCF12 (S237fs +9 more)	Microsatellite (frameshift variant)	Hypogonadotropic hypogonadism 26 with or without anosmia	GLikely pathogenic
Select item 2436995	NM_207037.2(TCF12):c.1612G>A (p.Val538Ile)	TCF12 (V278I +9 more)	Single nucleotide variant (missense variant)	not provided	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 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 1701655	NM_207037.2(TCF12):c.1035+4660C>T	TCF12	Single nucleotide variant (intron variant)	TCF12-related craniosynostosis	GUncertain significance
Select item 1526459	GRCh37/hg19 15q21.3(chr15:57253582-57334445)	TCF12	Copy number loss	not specified	GUncertain significance
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 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 871154	GRCh37/hg19 15q21.3(chr15:57543548-57544690)x1	TCF12	Copy number loss	not provided	GLikely pathogenic
Select item 815723	GRCh37/hg19 15q21.3(chr15:57507433-57642065)x1	TCF12	Copy number loss	not provided	GLikely pathogenic
Select item 685439	GRCh37/hg19 15q21.3(chr15:57343027-57496277)x1	TCF12	Copy number loss	not provided	GUncertain significance
Select item 638114	GRCh37/hg19 15q21.3(chr15:57367491-57456139)x1	TCF12	Copy number loss	See cases	GPathogenic
Select item 560378	NM_207037.2(TCF12):c.1467+1G>C	TCF12	Single nucleotide variant (splice donor variant)	Coronal craniosynostosis	GLikely pathogenic
Select item 377099	NM_207037.2(TCF12):c.1490_1491dup (p.Val498fs)	TCF12 (V440fs +9 more)	Microsatellite (frameshift variant)	not provided	GPathogenic