Related gene-specific medical variations for Gene (Select 79781) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3110396	NM_024726.5(IQCA1):c.985A>G (p.Ile329Val)	IQCA1, LOC126806570 (I329V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110395	NM_024726.5(IQCA1):c.970G>A (p.Gly324Arg)	IQCA1, LOC126806570 (G324R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110383	NM_024726.5(IQCA1):c.1324G>A (p.Glu442Lys)	IQCA1, IQCA1-AS1 +1 more (E449K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2652036	NM_024726.5(IQCA1):c.979G>C (p.Ala327Pro)	IQCA1, LOC126806570 (A327P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2524415	NM_024726.5(IQCA1):c.961G>A (p.Val321Ile)	IQCA1, LOC126806570 (V328I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2476378	NM_024726.5(IQCA1):c.1267C>G (p.Leu423Val)	IQCA1, IQCA1-AS1 +1 more (L423V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 816591	GRCh37/hg19 2q37.2-37.3(chr2:237236732-237354843)x1	IQCA1	Copy number loss	not provided	GUncertain significance

ClinVar