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

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1031740	NM_001042681.2(RERE):c.4571C>T (p.Ser1524Leu)	RERE (S970L +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart +1 more	GUncertain significance
Select item 2442107	NM_001042681.2(RERE):c.4307_4318del (p.Leu1436_His1439del)	RERE	Deletion (inframe_deletion)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GLikely pathogenic
Select item 1031185	NM_001042681.2(RERE):c.4042G>T (p.Ala1348Ser)	RERE (A1348S +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 1031184	NM_001042681.2(RERE):c.3999G>C (p.Glu1333Asp)	RERE (E779D +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart +2 more	GConflicting classifications of pathogenicity
Select item 1031183	NM_001042681.2(RERE):c.3803C>A (p.Thr1268Asn)	RERE (T714N +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart +1 more	GUncertain significance
Select item 1031182	NM_001042681.2(RERE):c.3479C>T (p.Ala1160Val)	RERE (A606V +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 1031181	NM_001042681.2(RERE):c.3221C>A (p.Ala1074Glu)	RERE (A520E +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 1031180	NM_001042681.2(RERE):c.3158C>T (p.Pro1053Leu)	RERE (P1053L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1031179	NM_001042681.2(RERE):c.3095C>A (p.Pro1032His)	RERE (P478H +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 1031739	NM_001042681.2(RERE):c.2720T>C (p.Leu907Pro)	RERE (L353P +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 2582338	NM_001042681.2(RERE):c.2626C>T (p.Pro876Ser)	RERE (P322S +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 1031178	NM_001042681.2(RERE):c.2519C>T (p.Ser840Phe)	RERE (S286F +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 1031177	NM_001042681.2(RERE):c.1681_1684del (p.Glu561fs)	RERE (E561fs +1 more)	Deletion (frameshift variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GConflicting classifications of pathogenicity
Select item 1027760	NM_001042681.2(RERE):c.890C>T (p.Pro297Leu)	RERE (P297L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 2441844	NM_001042681.2(RERE):c.137G>T (p.Gly46Val)	RERE (G46V)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance