C1535926[trait identifier] AND "Daryl Scott Lab, Baylor College of Med - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 800363	NM_013450.4(BAZ2B):c.5036A>T (p.Glu1679Val)	BAZ2B (E1625V +3 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GPathogenic
Select item 800362	NM_013450.4(BAZ2B):c.2126G>A (p.Cys709Tyr)	BAZ2B (C646Y +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GPathogenic
Select item 800361	NM_013450.4(BAZ2B):c.628C>T (p.Arg210Ter)	BAZ2B (R147* +2 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GPathogenic
Select item 224124	NM_013450.4(BAZ2B):c.242C>G (p.Ser81Ter)	BAZ2B (S81*)	Single nucleotide variant (nonsense +1 more)	not specified	GUncertain significance
Select item 800360	GRCh37/hg19 2q24.2(chr2:160124451-160219840)x1	BAZ2B, TANC1 +1 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 800359	GRCh37/hg19 2q24.2(chr2:160124451-160511552)x1	BAZ2B, TANC1 +1 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 219198	NM_001080517.3(SETD5):c.2302C>T (p.Arg768Ter)	SETD5 (R768* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1210155	NM_016734.3(PAX5):c.1129C>T (p.Arg377Ter)	PAX5 (R206* +8 more)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance
Select item 1210159	NM_016734.3(PAX5):c.962C>A (p.Pro321His)	PAX5 (P213H +2 more)	Single nucleotide variant (missense variant +2 more)	Neurodevelopmental disorder	GPathogenic
Select item 1210158	NM_016734.3(PAX5):c.661C>T (p.Arg221Trp)	PAX5 (R113W +3 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GPathogenic
Select item 1210157	NM_016734.3(PAX5):c.419G>A (p.Arg140Gln)	LOC105376032, PAX5 (R140Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 1210156	NM_016734.3(PAX5):c.157G>C (p.Asp53His)	PAX5 (D53H)	Single nucleotide variant (intron variant +2 more)	Neurodevelopmental disorder	GPathogenic
Select item 1210154	GRCh37/hg19 9p13.3-13.2(chr9:35059633-37660586)x1	ARHGEF39, ATOSB +42 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 1210153	GRCh37/hg19 9p13.3-13.1(chr9:36088563-39092820)x1	MELK, PAX5 +22 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 1210152	GRCh37/hg19 9p13.2-13.1(chr9:36442195-39156958)x1	ALDH1B1, ANKRD18A +19 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 1210151	GRCh37/hg19 9p13.2-13.1(chr9:36426622-38787479)x1	EXOSC3, FBXO10 +15 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 39581	NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)	PACS1 (R203W)	Single nucleotide variant (missense variant)	Aortic root aneurysm +12 more	GPathogenic/Likely pathogenic
Select item 190122	NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs)	MAGEL2 (Q666fs)	Duplication (frameshift variant)	Neurodevelopmental delay +5 more	GPathogenic