C4310772[trait identifier] AND "Daryl Scott Lab, Baylor College of Med - ClinVar - NCBI

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

Search results

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 562007	NM_001042681.2(RERE):c.4319A>G (p.Gln1440Arg)	RERE (Q1440R +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GPathogenic
Select item 418456	NM_001042681.2(RERE):c.4307TCCACC[3] (p.1436LH[3])	RERE	Microsatellite (inframe_insertion)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 522858	NM_001042681.2(RERE):c.4304A>G (p.His1435Arg)	RERE (H1435R +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart +1 more	GPathogenic/Likely pathogenic
Select item 452391	NM_001042681.2(RERE):c.4304A>T (p.His1435Leu)	RERE (H1435L +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart +1 more	GLikely pathogenic
Select item 562005	NM_001042681.2(RERE):c.4303C>T (p.His1435Tyr)	RERE (H1435Y +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GPathogenic
Select item 562004	NM_001042681.2(RERE):c.4300T>C (p.Ser1434Pro)	RERE (S1434P +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GPathogenic
Select item 562006	NM_001042681.2(RERE):c.3292C>G (p.Leu1098Val)	RERE (L1098V +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 235329	NM_001042681.2(RERE):c.3146C>T (p.Pro1049Leu)	RERE (P1049L +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart +1 more	GPathogenic/Likely pathogenic
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 562003	NM_001042681.2(RERE):c.248dup (p.Ser84fs)	RERE (S84fs)	Duplication (frameshift variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GPathogenic
Select item 562002	Single allele	RERE	Deletion	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GPathogenic