ClinVar for MedGen (Select 816183) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068682	NM_001102401.4(TTI2):c.-100+1G>A	TTI2	Single nucleotide variant (5 prime UTR variant +1 more)	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	GBenign
Select item 3068291	NM_001102401.4(TTI2):c.356T>C (p.Leu119Pro)	TTI2 (L119P)	Single nucleotide variant (missense variant)	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	GUncertain significance
Select item 3065604	NM_001102401.4(TTI2):c.1115+2T>C	TTI2	Single nucleotide variant (splice donor variant)	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	GLikely pathogenic
Select item 2506447	NM_001102401.4(TTI2):c.575T>C (p.Leu192Pro)	TTI2 (L192P)	Single nucleotide variant (missense variant)	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	GPathogenic
Select item 2506446	NM_001102401.4(TTI2):c.539T>C (p.Leu180Pro)	TTI2 (L180P)	Single nucleotide variant (missense variant)	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	GPathogenic
Select item 2506444	NM_001102401.4(TTI2):c.1075C>T (p.Arg359Cys)	TTI2 (R359C +1 more)	Single nucleotide variant (missense variant)	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	GPathogenic
Select item 2437396	NM_001102401.4(TTI2):c.160G>T (p.Asp54Tyr)	TTI2 (D54Y)	Single nucleotide variant (missense variant)	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	GUncertain significance
Select item 1699094	NM_001102401.4(TTI2):c.1086C>A (p.Tyr362Ter)	TTI2 (Y331* +1 more)	Single nucleotide variant (nonsense)	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	GUncertain significance
Select item 1691272	NM_001102401.4(TTI2):c.950A>T (p.Asp317Val)	TTI2 (D286V +1 more)	Single nucleotide variant (missense variant)	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	GPathogenic/Likely pathogenic
Select item 1342859	NM_001102401.4(TTI2):c.-99-31C>T	TTI2	Single nucleotide variant (5 prime UTR variant +1 more)	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	GBenign
Select item 1342858	NM_001102401.4(TTI2):c.138T>C (p.Asn46=)	TTI2	Single nucleotide variant (synonymous variant)	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome +1 more	GBenign
Select item 1342857	NM_001102401.4(TTI2):c.188A>G (p.Glu63Gly)	TTI2 (E63G)	Single nucleotide variant (missense variant)	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome +1 more	GBenign
Select item 1032622	NM_001102401.4(TTI2):c.55G>C (p.Glu19Gln)	TTI2 (E19Q)	Single nucleotide variant (missense variant)	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	GUncertain significance
Select item 1031831	NM_001102401.4(TTI2):c.127_131delinsAA (p.Arg43_Arg44delinsLys)	TTI2	Indel (inframe_indel)	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	GUncertain significance
Select item 1029082	NM_001102401.4(TTI2):c.638A>G (p.Asp213Gly)	TTI2 (D213G)	Single nucleotide variant (missense variant)	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1029081	NM_001102401.4(TTI2):c.1001G>A (p.Arg334Gln)	TTI2 (R303Q +1 more)	Single nucleotide variant (missense variant)	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	GUncertain significance
Select item 813602	NM_001102401.4(TTI2):c.1064G>A (p.Arg355His)	TTI2 (R355H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 593064	NM_001102401.4(TTI2):c.1350dup (p.Lys451Ter)	MAK16, TTI2 (K420* +1 more)	Duplication (nonsense +1 more)	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome +1 more	GConflicting classifications of pathogenicity
Select item 437083	NM_001102401.4(TTI2):c.695C>T (p.Thr232Ile)	TTI2 (T232I)	Single nucleotide variant (missense variant)	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome +2 more	GUncertain significance
Select item 88868	NM_001102401.4(TTI2):c.1307T>A (p.Ile436Asn)	TTI2, MAK16 (I436N +1 more)	Single nucleotide variant (missense variant +1 more)	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	GPathogenic
Select item 88867	NM_001102401.4(TTI2):c.1100C>T (p.Pro367Leu)	TTI2 (P367L +1 more)	Single nucleotide variant (missense variant)	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	GPathogenic

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Items: 21