"GeneDx"[submitter] AND "LOC126806253"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1194103	NM_213622.4(STAMBP):c.-12-276C>T	LOC126806253, STAMBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 160044	NM_213622.4(STAMBP):c.12T>C (p.His4=)	LOC126806253, STAMBP	Single nucleotide variant (synonymous variant +3 more)	Microcephaly-capillary malformation syndrome +1 more	GBenign
Select item 2576825	NM_213622.4(STAMBP):c.32C>T (p.Pro11Leu)	LOC126806253, STAMBP (P11L)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 50793	NM_213622.4(STAMBP):c.112C>T (p.Arg38Cys)	LOC126806253, STAMBP (R38C)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3068194	NM_213622.4(STAMBP):c.113G>A (p.Arg38His)	LOC126806253, STAMBP (R38H)	Single nucleotide variant (missense variant +3 more)	Microcephaly-capillary malformation syndrome +1 more	GUncertain significance
Select item 50791	NM_213622.4(STAMBP):c.125A>G (p.Glu42Gly)	LOC126806253, STAMBP (E42G)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GLikely pathogenic

ClinVar