ClinVar for MedGen (Select 1841260) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2691770	NM_001303457.2(TTI1):c.1271A>G (p.His424Arg)	TTI1 (H424R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly and movement abnormalities	GLikely pathogenic
Select item 2691769	NM_001303457.2(TTI1):c.629dup (p.Leu210fs)	TTI1 (L210fs)	Duplication (frameshift variant)	Neurodevelopmental disorder with microcephaly and movement abnormalities	GUncertain significance
Select item 2573169	NM_001303457.2(TTI1):c.2978T>G (p.Leu993Arg)	TTI1 (L993R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly and movement abnormalities	GPathogenic
Select item 2573168	NM_001303457.2(TTI1):c.835T>G (p.Trp279Gly)	TTI1 (W279G)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly and movement abnormalities	GPathogenic
Select item 2573167	NM_001303457.2(TTI1):c.2302+1G>T	TTI1	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with microcephaly and movement abnormalities	GPathogenic
Select item 2573166	NM_001303457.2(TTI1):c.2300T>C (p.Leu767Ser)	TTI1 (L767S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly and movement abnormalities	GPathogenic
Select item 402171	NM_001303457.2(TTI1):c.2761G>A (p.Asp921Asn)	TTI1 (D921N)	Single nucleotide variant (missense variant)	Abnormal brain morphology	GLikely pathogenic

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