ClinVar for MedGen (Select 1713658) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3258086	NM_198565.3(NRROS):c.766G>A (p.Asp256Asn)	NRROS (D256N)	Single nucleotide variant (missense variant)	Seizures, early-onset, with neurodegeneration and brain calcifications	GUncertain significance
Select item 2663752	NM_198565.3(NRROS):c.1816del (p.Ala606fs)	NRROS (A606fs)	Deletion (frameshift variant)	Seizures, early-onset, with neurodegeneration and brain calcifications	GLikely pathogenic
Select item 2431562	NM_198565.3(NRROS):c.719G>A (p.Trp240Ter)	NRROS (W240*)	Single nucleotide variant (nonsense)	Seizures, early-onset, with neurodegeneration and brain calcifications	GLikely pathogenic
Select item 2431480	NM_198565.3(NRROS):c.109-4G>A	NRROS	Single nucleotide variant (intron variant)	Seizures, early-onset, with neurodegeneration and brain calcifications	GUncertain significance
Select item 2431433	NM_198565.3(NRROS):c.1843G>A (p.Asp615Asn)	NRROS (D615N)	Single nucleotide variant (missense variant)	Seizures, early-onset, with neurodegeneration and brain calcifications	GUncertain significance
Select item 1423459	NM_198565.3(NRROS):c.70G>A (p.Gly24Arg)	NRROS (G24R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1367446	NM_198565.3(NRROS):c.179G>A (p.Arg60Gln)	NRROS (R60Q)	Single nucleotide variant (missense variant)	Seizures, early-onset, with neurodegeneration and brain calcifications +2 more	GConflicting classifications of pathogenicity
Select item 1328539	NM_198565.3(NRROS):c.1222A>C (p.Asn408His)	NRROS (N408H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1326993	NM_198565.3(NRROS):c.450C>G (p.Ala150=)	NRROS	Single nucleotide variant (synonymous variant)	Seizures, early-onset, with neurodegeneration and brain calcifications +1 more	GBenign
Select item 1299757	NM_198565.3(NRROS):c.310C>T (p.Gln104Ter)	NRROS (Q104*)	Single nucleotide variant (nonsense)	Seizures, early-onset, with neurodegeneration and brain calcifications	GPathogenic
Select item 1299756	NM_198565.3(NRROS):c.185T>C (p.Leu62Pro)	NRROS (L62P)	Single nucleotide variant (missense variant)	Seizures, early-onset, with neurodegeneration and brain calcifications	GPathogenic
Select item 873032	NM_198565.3(NRROS):c.190del (p.Leu64fs)	NRROS (L64fs)	Deletion (frameshift variant)	Seizures, early-onset, with neurodegeneration and brain calcifications	GPathogenic
Select item 873031	NM_198565.3(NRROS):c.1644del (p.Thr549fs)	NRROS (T549fs)	Deletion (frameshift variant)	Seizures, early-onset, with neurodegeneration and brain calcifications	GPathogenic
Select item 873030	NM_198565.3(NRROS):c.1981del (p.Leu661fs)	NRROS (L661fs)	Deletion (frameshift variant)	Seizures, early-onset, with neurodegeneration and brain calcifications	GLikely pathogenic
Select item 873029	NM_198565.3(NRROS):c.1257del (p.Gly420fs)	NRROS (G420fs)	Deletion (frameshift variant)	Seizures, early-onset, with neurodegeneration and brain calcifications	GPathogenic
Select item 873028	NM_198565.3(NRROS):c.29T>C (p.Leu10Pro)	NRROS (L10P)	Single nucleotide variant (missense variant)	Seizures, early-onset, with neurodegeneration and brain calcifications	GPathogenic
Select item 873027	NM_198565.3(NRROS):c.1777C>T (p.Gln593Ter)	NRROS (Q593*)	Single nucleotide variant (nonsense)	Seizures, early-onset, with neurodegeneration and brain calcifications	GPathogenic