"GeneDx"[submitter] AND "STAP1"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 59451	GRCh38/hg38 4q13.1-13.3(chr4:65454562-72313693)x1	LOC129992665, LOC129992666 +103 more	Copy number loss	See cases	GPathogenic
Select item 1211171	NC_000004.12:g.67558639TG[10]	STAP1	Microsatellite	not provided	GLikely benign
Select item 1221906	NM_012108.4(STAP1):c.120+6T>C	STAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233741	NM_012108.4(STAP1):c.121-226T>C	STAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194139	NM_012108.4(STAP1):c.121-106C>T	STAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1264463	NM_012108.4(STAP1):c.192+10T>C	STAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188764	NM_012108.4(STAP1):c.192+102T>C	STAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269598	NM_012108.4(STAP1):c.192+260T>G	STAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221491	NM_012108.4(STAP1):c.193-170G>C	STAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212768	NM_012108.4(STAP1):c.193-141G>A	STAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1241285	NM_012108.4(STAP1):c.193-12T>C	LOC123477751, STAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242618	NM_012108.4(STAP1):c.307-167C>T	STAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243836	NM_012108.4(STAP1):c.354A>G (p.Thr118=)	STAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1216388	NM_012108.4(STAP1):c.364-263G>A	STAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287964	NM_012108.4(STAP1):c.381C>T (p.Asn127=)	STAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1198972	NM_012108.4(STAP1):c.414G>C (p.Leu138=)	STAP1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1231894	NM_012108.4(STAP1):c.530+11A>G	STAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262529	NM_012108.4(STAP1):c.530+60A>G	STAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193788	NM_012108.4(STAP1):c.530+68G>A	STAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181259	NM_012108.4(STAP1):c.530+163A>G	STAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291928	NM_012108.4(STAP1):c.530+245T>G	STAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206423	NM_012108.4(STAP1):c.729+109A>G	STAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267418	NM_012108.4(STAP1):c.730-170G>A	STAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257893	NM_012108.4(STAP1):c.730-41G>C	STAP1	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 25