"Baylor Genetics"[submitter] AND "CHKB"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1029945	NM_005198.5(CHKB):c.1064T>C (p.Leu355Pro)	CHKB, CHKB-CPT1B (L355P)	Single nucleotide variant (missense variant +1 more)	Megaconial type congenital muscular dystrophy	GUncertain significance
Select item 560978	NM_005198.5(CHKB):c.1031+3G>C	CHKB, CHKB-CPT1B	Single nucleotide variant (intron variant)	Megaconial type congenital muscular dystrophy	GConflicting classifications of pathogenicity
Select item 451378	NM_005198.5(CHKB):c.151C>T (p.Gln51Ter)	CHKB, CHKB-CPT1B (Q51*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 625738	GRCh37/hg19 22q13.31-13.33(chr22:45075720-51181759)	ACR, ADM2 +60 more	Copy number loss	not provided	GPathogenic
Select item 625737	GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759)	A4GALT, ACR +92 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 625663	GRCh37/hg19 22q13.32-13.33(chr22:48533991-51178264)	ACR, ADM2 +34 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic

ClinVar