TTC5[gene] and "single gene"[properties] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2356035	NM_138376.3(TTC5):c.1304C>T (p.Ser435Leu)	TTC5 (S435L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184373	NM_138376.3(TTC5):c.1294A>G (p.Thr432Ala)	TTC5 (T432A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247518	NM_138376.3(TTC5):c.1286C>G (p.Ala429Gly)	TTC5 (A429G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329906	NM_138376.3(TTC5):c.1235C>T (p.Thr412Met)	TTC5 (T412M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443352	NM_138376.3(TTC5):c.1225C>T (p.Arg409Ter)	TTC5 (R409*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1048622	NM_138376.3(TTC5):c.1183C>T (p.Arg395Ter)	TTC5 (R395*)	Single nucleotide variant (nonsense)	Neurodevelopmental delay	GUncertain significance
Select item 3184372	NM_138376.3(TTC5):c.1104G>T (p.Met368Ile)	TTC5 (M368I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184371	NM_138376.3(TTC5):c.1094A>C (p.Tyr365Ser)	TTC5 (Y365S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1700463	NM_138376.3(TTC5):c.695C>T (p.Thr232Met)	TTC5 (T232M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1048624	NM_138376.3(TTC5):c.692C>T (p.Ala231Val)	TTC5 (A231V)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism	GPathogenic
Select item 1048621	NM_138376.3(TTC5):c.629A>G (p.Tyr210Cys)	TTC5 (Y210C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism	GPathogenic
Select item 2644043	NM_138376.3(TTC5):c.612G>A (p.Gln204=)	TTC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1048619	NM_138376.3(TTC5):c.599del (p.Pro200fs)	TTC5 (P200fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism	GPathogenic
Select item 3184375	NM_138376.3(TTC5):c.593A>G (p.Gln198Arg)	TTC5 (Q198R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644044	NM_138376.3(TTC5):c.588T>G (p.Thr196=)	TTC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2394656	NM_138376.3(TTC5):c.539G>A (p.Arg180His)	TTC5 (R180H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233138	NM_138376.3(TTC5):c.538C>T (p.Arg180Cys)	TTC5 (R180C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246408	NM_138376.3(TTC5):c.470A>G (p.His157Arg)	TTC5 (H157R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457722	NM_138376.3(TTC5):c.448C>T (p.Arg150Trp)	TTC5 (R150W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393312	NM_138376.3(TTC5):c.430A>G (p.Met144Val)	TTC5 (M144V)	Single nucleotide variant (missense variant)	not specified	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 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 2644045	NM_138376.3(TTC5):c.192C>G (p.Val64=)	TTC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1878583	NM_138376.3(TTC5):c.139_140inv (p.Gln47Trp)	TTC5 (Q47W)	Inversion (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 3329907	NM_138376.3(TTC5):c.73T>G (p.Ser25Ala)	TTC5 (S25A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 26