Related gene-specific medical variations for Gene (Select 91875) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065695	NM_138376.3(TTC5):c.343A>C (p.Lys115Gln)	TTC5 (K115Q)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism	GUncertain significance
Select item 3062315	NM_138376.3(TTC5):c.79C>T (p.Arg27Ter)	TTC5 (R27*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism	GLikely pathogenic
Select item 3049613	NM_138376.3(TTC5):c.42G>C (p.Gln14His)	LOC130055244, TTC5 (Q14H)	Single nucleotide variant (missense variant)	TTC5-related condition	GLikely benign
Select item 2644042	NM_138376.3(TTC5):c.811C>T (p.Leu271=)	LOC126861878, TTC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644041	NM_138376.3(TTC5):c.926A>G (p.Tyr309Cys)	LOC126861878, TTC5 (Y309C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2644040	NM_138376.3(TTC5):c.954C>T (p.Thr318=)	LOC126861878, TTC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2593951	NM_138376.3(TTC5):c.829C>T (p.Leu277Phe)	LOC126861878, TTC5 (L277F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2578709	NM_138376.3(TTC5):c.-6C>T	LOC130055244, TTC5	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 2523959	NM_138376.3(TTC5):c.1046A>G (p.Glu349Gly)	LOC126861878, TTC5 (E349G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2502828	NM_138376.3(TTC5):c.418C>T (p.Gln140Ter)	TTC5 (Q140*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism	GUncertain significance
Select item 2383558	NM_138376.3(TTC5):c.890G>A (p.Arg297His)	LOC126861878, TTC5 (R297H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377503	NM_138376.3(TTC5):c.826A>G (p.Ser276Gly)	LOC126861878, TTC5 (S276G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297643	NM_138376.3(TTC5):c.5T>C (p.Met2Thr)	LOC130055244, TTC5 (M2T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273833	NM_138376.3(TTC5):c.1000G>A (p.Gly334Ser)	LOC126861878, TTC5 (G334S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1048623	NM_138376.3(TTC5):c.787C>T (p.Arg263Ter)	LOC126861878, TTC5 (R263*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism	GPathogenic
Select item 1048620	NM_138376.3(TTC5):c.51+1G>A	TTC5, LOC130055244	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism	GPathogenic