"PreventionGenetics, part of Exact Sciences"[submitter] AND "NRL"[gene - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1167563	NM_001354768.3(NRL):c.703C>T (p.Leu235Phe)	LOC130055387, NRL (L130F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 853152	NM_001354768.3(NRL):c.654del (p.Cys219fs)	LOC130055387, NRL (C219fs +1 more)	Deletion (frameshift variant)	NRL-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 724014	NM_001354768.3(NRL):c.549G>A (p.Gln183=)	NRL, LOC130055387	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 559130	NM_004563.4(PCK2):c.190G>A (p.Asp64Asn)	NRL, PCK2 (D64N)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign
Select item 3031325	NM_004563.4(PCK2):c.483A>G (p.Pro161=)	NRL, PCK2	Single nucleotide variant (synonymous variant +1 more)	PCK2-related disorder	GLikely benign
Select item 3055845	NM_004563.4(PCK2):c.753C>T (p.Ser251=)	NRL, PCK2	Single nucleotide variant (synonymous variant +1 more)	PCK2-related disorder	GLikely benign
Select item 2751951	NM_004563.4(PCK2):c.943C>A (p.Arg315=)	NRL, PCK2	Single nucleotide variant (synonymous variant +1 more)	PCK2-related disorder +1 more	GLikely benign
Select item 2590938	NM_004563.4(PCK2):c.1025G>A (p.Arg342Gln)	NRL, PCK2 (R208Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2861686	NM_004563.4(PCK2):c.1234+8C>T	NRL, PCK2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 3032103	NM_004563.4(PCK2):c.1234+26A>T	NRL, PCK2	Single nucleotide variant (synonymous variant +1 more)	PCK2-related disorder	GLikely benign
Select item 3054370	NM_004563.4(PCK2):c.1234+52T>C	NRL, PCK2 (M429T)	Single nucleotide variant (missense variant +1 more)	PCK2-related disorder	GLikely benign
Select item 2644128	NM_004563.4(PCK2):c.1234+54G>A	NRL, PCK2 (V430M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 3055309	NM_004563.4(PCK2):c.1234+99C>G	NRL, PCK2	Single nucleotide variant (3 prime UTR variant +1 more)	PCK2-related disorder	GLikely benign
Select item 2068721	NM_004563.4(PCK2):c.1322C>T (p.Pro441Leu)	NRL, PCK2 (P307L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 383754	NM_004563.4(PCK2):c.1405C>T (p.Arg469Cys)	NRL, PCK2 (R469C +1 more)	Single nucleotide variant (missense variant +1 more)	Phosphoenolpyruvate carboxykinase deficiency, mitochondrial +2 more	GConflicting classifications of pathogenicity
Select item 720616	NM_001354768.3(NRL):c.-28+11215dup	NRL, PCK2	Duplication (intron variant)	PCK2-related disorder +2 more	GBenign/Likely benign
Select item 2696535	NM_004563.4(PCK2):c.1469-6C>G	NRL, PCK2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3053377	NM_004563.4(PCK2):c.1623G>A (p.Gly541=)	NRL, PCK2	Single nucleotide variant (synonymous variant +1 more)	PCK2-related disorder	GLikely benign
Select item 2041016	NM_004563.4(PCK2):c.1741G>A (p.Ala581Thr)	NRL, PCK2 (A581T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 618263	NM_004563.4(PCK2):c.1756G>A (p.Gly586Ser)	NRL, PCK2 (G586S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity

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Items: 20