"Revvity Omics, Revvity"[submitter] AND "RTTN"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 436606	NM_173630.4(RTTN):c.5916G>C (p.Gln1972His)	RTTN (Q1972H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1325023	NM_173630.4(RTTN):c.5877G>A (p.Trp1959Ter)	RTTN (W1047* +1 more)	Single nucleotide variant (nonsense)	Microcephalic primordial dwarfism due to RTTN deficiency	GLikely pathogenic
Select item 1333309	NM_173630.4(RTTN):c.4772G>A (p.Arg1591Gln)	RTTN (R1591Q +1 more)	Single nucleotide variant (missense variant)	Microcephalic primordial dwarfism due to RTTN deficiency +2 more	GUncertain significance
Select item 1323539	NM_173630.4(RTTN):c.3577C>T (p.Arg1193Ter)	RTTN (R1193* +1 more)	Single nucleotide variant (nonsense)	Microcephalic primordial dwarfism due to RTTN deficiency	GPathogenic
Select item 732903	NM_173630.4(RTTN):c.3321G>C (p.Lys1107Asn)	RTTN (K1107N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1204631	NM_173630.4(RTTN):c.2318C>T (p.Ser773Leu)	RTTN (S773L)	Single nucleotide variant (5 prime UTR variant +1 more)	Microcephalic primordial dwarfism due to RTTN deficiency +1 more	GUncertain significance
Select item 1325021	NM_173630.4(RTTN):c.2174delG (p.Gly725fs)	RTTN (G725fs)	Deletion (splice acceptor variant +1 more)	Microcephalic primordial dwarfism due to RTTN deficiency	GLikely pathogenic
Select item 2367046	NM_173630.4(RTTN):c.1652A>T (p.Glu551Val)	RTTN (E551V)	Single nucleotide variant (5 prime UTR variant +1 more)	Microcephalic primordial dwarfism due to RTTN deficiency +1 more	GUncertain significance
Select item 1325022	NM_173630.4(RTTN):c.841+1G>A	RTTN	Single nucleotide variant (splice donor variant)	Microcephalic primordial dwarfism due to RTTN deficiency	GLikely pathogenic
Select item 1333380	NM_173630.4(RTTN):c.799C>G (p.Leu267Val)	RTTN (L267V)	Single nucleotide variant (5 prime UTR variant +1 more)	Microcephalic primordial dwarfism due to RTTN deficiency +1 more	GUncertain significance
Select item 1031275	NM_173630.4(RTTN):c.487+2T>G	RTTN	Single nucleotide variant (splice donor variant)	Microcephalic primordial dwarfism due to RTTN deficiency	GUncertain significance
Select item 2435491	NM_173630.4(RTTN):c.223C>A (p.Pro75Thr)	RTTN (P75T)	Single nucleotide variant (5 prime UTR variant +1 more)	Microcephalic primordial dwarfism due to RTTN deficiency	GUncertain significance