Related gene-specific medical variations for Gene (Select 4582) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068105	NM_002456.6(MUC1):c.717del (p.Ser240fs)	MUC1 (S117fs +17 more)	Deletion (frameshift variant +1 more)	Tubulointerstitial kidney disease, autosomal dominant, 2	GUncertain significance
Select item 3065546	NM_001204285.2(MUC1):c.1354-1G>A	MUC1	Single nucleotide variant (splice acceptor variant)	Tubulointerstitial kidney disease, autosomal dominant, 2	GLikely pathogenic
Select item 3065438	NM_001204285.2(MUC1):c.184del (p.Ser62fs)	MUC1 (S62fs +1 more)	Deletion (frameshift variant +1 more)	Tubulointerstitial kidney disease, autosomal dominant, 2	GLikely pathogenic
Select item 1301998	NM_002456.6(MUC1):c.253C>T (p.Gln85Ter)	MUC1 (Q1042* +6 more)	Single nucleotide variant (nonsense +2 more)	Tubulointerstitial kidney disease, autosomal dominant, 2	Gnot provided
Select item 591579	NM_001204285.2(MUC1):c.302_361del (p.Val101_Ser120del)	MUC1	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 591327	NM_002456.6(MUC1):c.159+236dup	MUC1 (A135fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 55830	NC_000001.10:g.(155160963_155162030)insC	MUC1	Insertion	Tubulointerstitial kidney disease, autosomal dominant, 2	GPathogenic

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