Related gene-specific medical variations for Gene (Select 6934) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362201	NM_001367943.1(TCF7L2):c.1579C>T (p.Gln527Ter)	TCF7L2 (Q487* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3361213	NM_001367943.1(TCF7L2):c.587A>G (p.His196Arg)	TCF7L2 (H139R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360973	NM_001367943.1(TCF7L2):c.296C>T (p.Pro99Leu)	TCF7L2 (P99L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685389	GRCh37/hg19 10q25.2(chr10:114608930-114787637)x1	TCF7L2	Copy number loss	not provided	GUncertain significance
Select item 1700132	NM_001367943.1(TCF7L2):c.723del (p.Tyr242fs)	TCF7L2 (Y185fs +5 more)	Deletion (frameshift variant)	Neurodevelopmental delay	GLikely pathogenic
Select item 1696586	NM_001367943.1(TCF7L2):c.1162-7C>A	TCF7L2	Single nucleotide variant (intron variant)	TCF7L2-related Intellectual disability	GUncertain significance
Select item 1692994	NM_001367943.1(TCF7L2):c.450+33966C>G	LOC110121472, TCF7L2	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	GLikely risk allele
Select item 687872	GRCh37/hg19 10q25.2-25.3(chr10:114666574-114942837)x1	TCF7L2	Copy number loss	not provided	GUncertain significance
Select item 157187	NM_001367943.1(TCF7L2):c.552+46764_552+47838del	TCF7L2	Deletion (intron variant)	Normal pregnancy	Gnot provided
Select item 7413	NM_001367943.1(TCF7L2):c.450+33966C>T	LOC110121472, TCF7L2	Single nucleotide variant (intron variant)	Diabetes mellitus type 2, susceptibility to	Grisk factor