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

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 397627	NM_006031.6(PCNT):c.644G>A (p.Cys215Tyr)	PCNT (C215Y +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +3 more	GConflicting classifications of pathogenicity
Select item 561076	NM_006031.6(PCNT):c.1032+1G>A	PCNT	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 340476	NM_006031.6(PCNT):c.2247A>C (p.Glu749Asp)	PCNT (E749D +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GUncertain significance
Select item 897303	NM_006031.6(PCNT):c.2750C>T (p.Ala917Val)	PCNT (A799V +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +1 more	GUncertain significance
Select item 436261	NM_006031.6(PCNT):c.3058A>T (p.Lys1020Ter)	PCNT (K1020* +1 more)	Single nucleotide variant (nonsense)	Microcephalic osteodysplastic primordial dwarfism type II	GPathogenic
Select item 1030063	NM_006031.6(PCNT):c.4727A>G (p.Lys1576Arg)	PCNT (K1458R +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II	GUncertain significance
Select item 159621	NM_006031.6(PCNT):c.5578G>T (p.Glu1860Ter)	PCNT (E1860* +1 more)	Single nucleotide variant (nonsense)	Microcephalic osteodysplastic primordial dwarfism type II +1 more	GPathogenic
Select item 4706	NM_006031.6(PCNT):c.5767C>T (p.Arg1923Ter)	PCNT (R1923* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1030064	NM_006031.6(PCNT):c.6185C>T (p.Pro2062Leu)	PCNT (P2062L +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II	GUncertain significance
Select item 1069878	NM_006031.6(PCNT):c.6412dup (p.Val2138fs)	PCNT (V2020fs +1 more)	Duplication (frameshift variant)	Microcephalic osteodysplastic primordial dwarfism type II +1 more	GPathogenic/Likely pathogenic
Select item 1030065	NM_006031.6(PCNT):c.8089C>A (p.Gln2697Lys)	PCNT (Q2697K +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II	GUncertain significance
Select item 444580	NM_006031.6(PCNT):c.9706C>T (p.Arg3236Ter)	PCNT (R3236* +1 more)	Single nucleotide variant (nonsense)	PCNT-related disorder +2 more	GPathogenic/Likely pathogenic