"GeneDx"[submitter] AND "MBTPS1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59517	GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1	LOC130059506, LOC130059507 +447 more	Copy number loss	See cases	GPathogenic
Select item 59518	GRCh38/hg38 16q23.3-24.1(chr16:81753762-85714791)x1	ADAD2, ATP2C2 +211 more	Copy number loss	See cases	GPathogenic
Select item 1328912	NM_003791.4(MBTPS1):c.2959G>A (p.Gly987Arg)	MBTPS1 (G987R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1189224	NM_003791.4(MBTPS1):c.2572+5G>A	MBTPS1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1305616	NM_003791.4(MBTPS1):c.1241G>C (p.Ser414Thr)	MBTPS1 (S414T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1308370	NM_003791.4(MBTPS1):c.1216G>A (p.Gly406Arg)	MBTPS1 (G406R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2068406	NM_003791.4(MBTPS1):c.478C>T (p.Arg160Cys)	MBTPS1 (R160C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253901	GRCh37/hg19 16q23.3-24.1(chr16:83496909-84695933)x1	LOC654780, OSGIN1 +16 more	Copy number loss	See cases	GUncertain significance
Select item 253554	GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3	ACSF3, ADAD2 +127 more	Copy number gain	See cases	GPathogenic

ClinVar