MUCL1[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 152934	GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3	AMHR2, ATF7 +219 more	Copy number gain	See cases	GPathogenic
Select item 2470747	NM_058173.3(MUCL1):c.25C>T (p.Leu9Phe)	MUCL1 (L9F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508805	NM_058173.3(MUCL1):c.76G>A (p.Ala26Thr)	MUCL1 (A26T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253237	NM_058173.3(MUCL1):c.152C>G (p.Thr51Ser)	MUCL1 (T51S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

ClinVar