ClinVar for MedGen (Select 816183) - ClinVar - NCBI

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Items: 18

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25064471.	NM_001102401.4(TTI2):c.575T>C (p.Leu192Pro) GRCh37: Chr8:33369557 GRCh38: Chr8:33512039	TTI2	L192P	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	Pathogenic (Jun 21, 2023)	no assertion criteria provided
Select item 25064462.	NM_001102401.4(TTI2):c.539T>C (p.Leu180Pro) GRCh37: Chr8:33369593 GRCh38: Chr8:33512075	TTI2	L180P	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	Pathogenic (Jun 21, 2023)	no assertion criteria provided
Select item 25064443.	NM_001102401.4(TTI2):c.1075C>T (p.Arg359Cys) GRCh37: Chr8:33361306 GRCh38: Chr8:33503788	TTI2	R359C, R328C	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	Pathogenic (Jun 22, 2023)	no assertion criteria provided
Select item 24373964.	NM_001102401.4(TTI2):c.160G>T (p.Asp54Tyr) GRCh37: Chr8:33369972 GRCh38: Chr8:33512454	TTI2	D54Y	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	Uncertain significance (May 21, 2019)	criteria provided, single submitter
Select item 16990945.	NM_001102401.4(TTI2):c.1086C>A (p.Tyr362Ter) GRCh37: Chr8:33361295 GRCh38: Chr8:33503777	TTI2	Y331, Y362	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	Uncertain significance (Oct 19, 2020)	criteria provided, single submitter
Select item 16912726.	NM_001102401.4(TTI2):c.950A>T (p.Asp317Val) GRCh37: Chr8:33361431 GRCh38: Chr8:33503913	TTI2	D286V, D317V	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	Pathogenic/Likely pathogenic (Jun 21, 2023)	no assertion criteria provided
Select item 13428597.	NM_001102401.4(TTI2):c.-99-31C>T GRCh37: Chr8:33370261 GRCh38: Chr8:33512743	TTI2		Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	Benign (Sep 10, 2021)	criteria provided, single submitter
Select item 13428588.	NM_001102401.4(TTI2):c.138T>C (p.Asn46=) GRCh37: Chr8:33369994 GRCh38: Chr8:33512476	TTI2		Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	Benign (Sep 10, 2021)	criteria provided, single submitter
Select item 13428579.	NM_001102401.4(TTI2):c.188A>G (p.Glu63Gly) GRCh37: Chr8:33369944 GRCh38: Chr8:33512426	TTI2	E63G	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	Benign (Sep 10, 2021)	criteria provided, single submitter
Select item 103262210.	NM_001102401.4(TTI2):c.55G>C (p.Glu19Gln) GRCh37: Chr8:33370077 GRCh38: Chr8:33512559	TTI2	E19Q	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	Uncertain significance (May 30, 2018)	criteria provided, single submitter
Select item 103183111.	NM_001102401.4(TTI2):c.127_131delinsAA (p.Arg43_Arg44delinsLys) GRCh37: Chr8:33370001-33370005 GRCh38: Chr8:33512483-33512487	TTI2		Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	Uncertain significance (Apr 27, 2018)	criteria provided, single submitter
Select item 102908212.	NM_001102401.4(TTI2):c.638A>G (p.Asp213Gly) GRCh37: Chr8:33369494 GRCh38: Chr8:33511976	TTI2	D213G	not specified, Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	Conflicting interpretations of pathogenicity (Sep 6, 2019)	criteria provided, conflicting interpretations
Select item 102908113.	NM_001102401.4(TTI2):c.1001G>A (p.Arg334Gln) GRCh37: Chr8:33361380 GRCh38: Chr8:33503862	TTI2	R303Q, R334Q	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	Uncertain significance (Oct 16, 2020)	criteria provided, single submitter
Select item 81360214.	NM_001102401.4(TTI2):c.1064G>A (p.Arg355His) GRCh37: Chr8:33361317 GRCh38: Chr8:33503799	TTI2	R355H, R324H	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	Uncertain significance (Jan 1, 2019)	criteria provided, single submitter
Select item 59306415.	NM_001102401.4(TTI2):c.1350dup (p.Lys451Ter) GRCh37: Chr8:33357917-33357918 GRCh38: Chr8:33500399-33500400	MAK16, TTI2	K420, K451	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome, not provided	Conflicting interpretations of pathogenicity (Jun 22, 2022)	criteria provided, conflicting interpretations
Select item 43708316.	NM_001102401.4(TTI2):c.695C>T (p.Thr232Ile) GRCh37: Chr8:33367403 GRCh38: Chr8:33509885	TTI2	T232I	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome, Inborn genetic diseases, not specified	Uncertain significance (Mar 14, 2023)	criteria provided, multiple submitters, no conflicts
Select item 8886817.	NM_001102401.4(TTI2):c.1307T>A (p.Ile436Asn) GRCh37: Chr8:33357961 GRCh38: Chr8:33500443	TTI2, MAK16	I436N, I405N	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	Pathogenic (Nov 1, 2013)	no assertion criteria provided
Select item 8886718.	NM_001102401.4(TTI2):c.1100C>T (p.Pro367Leu) GRCh37: Chr8:33361281 GRCh38: Chr8:33503763	TTI2	P367L, P336L	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	Pathogenic (Sep 21, 2011)	no assertion criteria provided