"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "IQSEC3"[ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2642555	NM_001170738.2(IQSEC3):c.285G>A (p.Gln95=)	IQSEC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642556	NM_001170738.2(IQSEC3):c.787G>A (p.Gly263Ser)	IQSEC3 (G263S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2642557	NM_001170738.2(IQSEC3):c.836C>T (p.Thr279Met)	IQSEC3 (T279M)	Single nucleotide variant (missense variant +1 more)	IQSEC3-related condition +1 more	GLikely benign
Select item 717712	NM_001170738.2(IQSEC3):c.1107G>A (p.Ala369=)	IQSEC3, LOC574538	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3025702	NM_001170738.2(IQSEC3):c.1317C>A (p.Ala439=)	IQSEC3, LOC574538	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642558	NM_001170738.2(IQSEC3):c.3078C>T (p.Ala1026=)	IQSEC3, IQSEC3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642559	NM_001170738.2(IQSEC3):c.3402G>T (p.Leu1134=)	IQSEC3, IQSEC3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024577	GRCh37/hg19 12p13.33(chr12:247433-461490)x1	IQSEC3, KDM5A +2 more	Copy number loss	not provided	GUncertain significance

ClinVar