ClinVar for MedGen (Select 358137) - ClinVar - NCBI

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Items: 13

	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 2506459	NM_001204285.2(MUC1):c.293_296dup (p.Ser100fs)	MUC1 (S100fs +1 more)	Duplication (frameshift variant +1 more)	Tubulointerstitial kidney disease, autosomal dominant, 2	GLikely pathogenic
Select item 1321177	NM_001204286.1(MUC1):c.93G>A (p.Thr31=)	MUC1	Single nucleotide variant (synonymous variant +1 more)	Tubulointerstitial kidney disease, autosomal dominant, 2	GBenign
Select item 1302002	NC_000001.10:g.(155160963_155162030)dupGCCGGCCCCGGGTCC		Duplication	Tubulointerstitial kidney disease, autosomal dominant, 2	Gnot provided
Select item 1302001	NC_000001.10:g.(155160963_155162030)delinsAT		Indel	Tubulointerstitial kidney disease, autosomal dominant, 2	Gnot provided
Select item 1302000	NC_000001.10:g.(155160963_155162030)insG		Insertion	Tubulointerstitial kidney disease, autosomal dominant, 2	Gnot provided
Select item 1301999	NC_000001.10:g.(155160963_155162030)insC		Insertion	Tubulointerstitial kidney disease, autosomal dominant, 2	Gnot provided
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 1031014	NM_001044393.3(MUC1):c.295C>T (p.Arg99Cys)	MUC1 (R160C +1 more)	Single nucleotide variant (synonymous variant +2 more)	Tubulointerstitial kidney disease, autosomal dominant, 2	GUncertain significance
Select item 974433	NM_001371720.2(MUC1):c.3298dup (p.Thr1101Asnfs)	MUC1 (T110fs +11 more)	Duplication (frameshift variant +1 more)	Tubulointerstitial kidney disease, autosomal dominant, 2	GPathogenic
Select item 55830	NC_000001.10:g.(155160963_155162030)insC	MUC1	Insertion	Tubulointerstitial kidney disease, autosomal dominant, 2	GPathogenic