Related gene-specific medical variations for Gene (Select 84549) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3184489	NM_001102401.4(TTI2):c.1475A>G (p.Tyr492Cys)	MAK16, TTI2 (Y461C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3184488	NM_001102401.4(TTI2):c.1439T>G (p.Ile480Ser)	MAK16, TTI2 (I449S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3184487	NM_001102401.4(TTI2):c.1426C>G (p.Leu476Val)	MAK16, TTI2 (L476V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2663493	NM_001102401.4(TTI2):c.1399C>T (p.Arg467Cys)	MAK16, TTI2 (R436C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2607669	NM_001102401.4(TTI2):c.1423G>A (p.Gly475Ser)	MAK16, TTI2 (G444S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2470991	NM_001102401.4(TTI2):c.1297T>G (p.Leu433Val)	MAK16, TTI2 (L402V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2408213	NM_001102401.4(TTI2):c.1357G>A (p.Ala453Thr)	MAK16, TTI2 (A422T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1685191	NM_001102401.4(TTI2):c.1397A>C (p.Asp466Ala)	TTI2, MAK16 (D435A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 813601	NM_001102401.4(TTI2):c.1414C>T (p.Arg472Trp)	MAK16, TTI2 (R441W +1 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly	GUncertain significance
Select item 764915	NM_001102401.4(TTI2):c.1506C>T (p.Gly502=)	TTI2, MAK16	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 737813	NM_001102401.4(TTI2):c.1260-9T>C	MAK16, TTI2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 593064	NM_001102401.4(TTI2):c.1350dup (p.Lys451Ter)	MAK16, TTI2 (K420* +1 more)	Duplication (nonsense +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 437080	NM_001102401.4(TTI2):c.1274T>G (p.Leu425Arg)	MAK16, TTI2 (L425R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 88868	NM_001102401.4(TTI2):c.1307T>A (p.Ile436Asn)	MAK16, TTI2 (I436N +1 more)	Single nucleotide variant (missense variant +1 more)	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	GPathogenic