Related gene-specific medical variations for Gene (Select 50943) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2675750	NM_014009.4(FOXP3):c.1110G>A (p.Met370Ile)	FOXP3 (M335I +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GPathogenic
Select item 2675749	NM_014009.4(FOXP3):c.315+1G>A	FOXP3	Single nucleotide variant (intron variant +1 more)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely pathogenic
Select item 2440311	NM_014009.4(FOXP3):c.543-2A>G	FOXP3	Single nucleotide variant (splice acceptor variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely pathogenic
Select item 1337683	NM_014009.4(FOXP3):c.*867G>C	CCDC22, FOXP3	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 1098427	NM_014009.4(FOXP3):c.224C>T (p.Pro75Leu)	FOXP3 (P75L)	Single nucleotide variant (missense variant +1 more)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GPathogenic
Select item 859614	NM_014009.4(FOXP3):c.*878A>G	CCDC22, FOXP3	Single nucleotide variant (3 prime UTR variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 636928	NM_014009.4(FOXP3):c.1200C>A (p.Ser400Arg)	FOXP3 (S400R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 636863	NM_014009.4(FOXP3):c.1079T>C (p.Leu360Pro)	FOXP3 (L360P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 260313	NM_014009.4(FOXP3):c.*673G>A	FOXP3	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 11417	FOXP3, 543C-T	FOXP3	Single nucleotide variant	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GPathogenic