"GeneDx"[submitter] AND "NRL"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 450581	NM_001354768.3(NRL):c.597C>G (p.Asp199Glu)	LOC130055387, NRL (D199E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 861204	NM_001354768.3(NRL):c.578G>A (p.Arg193His)	LOC130055387, NRL (R193H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 620329	NM_001354768.3(NRL):c.544C>T (p.Gln182Ter)	LOC130055387, NRL (Q182* +1 more)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity
Select item 2794805	NM_001354768.3(NRL):c.535A>C (p.Lys179Gln)	LOC130055387, NRL (K74Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 380387	NM_001354768.3(NRL):c.199C>T (p.Pro67Ser)	NRL (P67S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 195258	NM_001354768.3(NRL):c.151C>T (p.Pro51Ser)	NRL (P51S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 374449	NM_004563.4(PCK2):c.68C>G (p.Ser23Ter)	NRL, PCK2 (S23*)	Single nucleotide variant (nonsense +2 more)	Phosphoenolpyruvate carboxykinase deficiency, mitochondrial +2 more	GConflicting classifications of pathogenicity
Select item 393237	NM_004563.4(PCK2):c.310C>T (p.Arg104Ter)	NRL, PCK2 (R104*)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance
Select item 451808	NM_004563.4(PCK2):c.577C>T (p.Arg193Ter)	NRL, PCK2 (R193* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 423168	NM_004563.4(PCK2):c.792del (p.Phe264fs)	NRL, PCK2 (F130fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 423170	NM_004563.4(PCK2):c.802A>G (p.Ile268Val)	NRL, PCK2 (I268V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 503636	NM_004563.4(PCK2):c.1234+1G>T	NRL, PCK2 (G412V)	Single nucleotide variant (missense variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 392181	NM_004563.4(PCK2):c.1401C>G (p.Asn467Lys)	NRL, PCK2 (N467K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 +1 more	GConflicting classifications of pathogenicity
Select item 452765	NM_004563.4(PCK2):c.1469-1G>A	NRL, PCK2	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 253659	GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	ABHD4, ACIN1 +149 more	Copy number gain	See cases	GPathogenic