"Baylor Genetics"[submitter] AND "RTTN"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 130194	NM_173630.4(RTTN):c.6445G>A (p.Ala2149Thr)	RTTN (A2149T +1 more)	Single nucleotide variant (missense variant)	Microcephalic primordial dwarfism due to RTTN deficiency +2 more	GConflicting classifications of pathogenicity
Select item 1031276	NM_173630.4(RTTN):c.6413T>A (p.Leu2138Gln)	RTTN (L1226Q +1 more)	Single nucleotide variant (missense variant)	Microcephalic primordial dwarfism due to RTTN deficiency	GUncertain significance
Select item 561099	NM_173630.4(RTTN):c.5174A>C (p.Lys1725Thr)	RTTN (K1725T +1 more)	Single nucleotide variant (missense variant)	Microcephalic primordial dwarfism due to RTTN deficiency +1 more	GUncertain significance
Select item 389771	NM_173630.4(RTTN):c.4877C>T (p.Thr1626Met)	RTTN (T1626M +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 281568	NM_173630.4(RTTN):c.4864G>A (p.Asp1622Asn)	RTTN (D1622N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1032538	NM_173630.4(RTTN):c.4502G>A (p.Arg1501Gln)	RTTN (R589Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1031274	NM_173630.4(RTTN):c.4443A>T (p.Leu1481Phe)	RTTN (L569F +1 more)	Single nucleotide variant (missense variant)	Microcephalic primordial dwarfism due to RTTN deficiency	GUncertain significance
Select item 2441768	NM_173630.4(RTTN):c.4032+5G>A	RTTN	Single nucleotide variant (intron variant)	Microcephalic primordial dwarfism due to RTTN deficiency	GLikely pathogenic
Select item 1031273	NM_173630.4(RTTN):c.4028G>A (p.Ser1343Asn)	RTTN (S431N +1 more)	Single nucleotide variant (missense variant)	Microcephalic primordial dwarfism due to RTTN deficiency	GUncertain significance
Select item 2442067	NM_173630.4(RTTN):c.3373G>T (p.Ala1125Ser)	RTTN (A1125S +1 more)	Single nucleotide variant (missense variant)	Microcephalic primordial dwarfism due to RTTN deficiency	GUncertain significance
Select item 219184	NM_173630.4(RTTN):c.2885+8A>G	RTTN	Single nucleotide variant (intron variant)	Microcephalic primordial dwarfism due to RTTN deficiency +1 more	GPathogenic/Likely pathogenic
Select item 444437	NM_173630.4(RTTN):c.1738C>T (p.Arg580Cys)	RTTN (R580C)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 429262	NM_173630.4(RTTN):c.796A>T (p.Arg266Ter)	RTTN (R266*)	Single nucleotide variant (5 prime UTR variant +1 more)	Microcephalic primordial dwarfism due to RTTN deficiency +1 more	GPathogenic/Likely pathogenic
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 2442150	NM_173630.4(RTTN):c.478C>T (p.Arg160Ter)	RTTN (R160*)	Single nucleotide variant (5 prime UTR variant +1 more)	Microcephalic primordial dwarfism due to RTTN deficiency	GLikely pathogenic
Select item 1031272	NM_173630.4(RTTN):c.350C>T (p.Ser117Leu)	RTTN (S117L)	Single nucleotide variant (5 prime UTR variant +1 more)	Microcephalic primordial dwarfism due to RTTN deficiency +1 more	GUncertain significance