"Clinical Genetics Laboratory, University Hospital Schleswig-Holstein" - ClinVar

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

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1319925	NM_006593.4(TBR1):c.1155C>A (p.Asn385Lys)	TBR1 (N385K)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 5	GUncertain significance
Select item 3065986	NM_006593.4(TBR1):c.1190+2T>G	TBR1	Single nucleotide variant (splice donor variant)	Autism, susceptibility to, 5	GPathogenic
Select item 1710258	NM_006593.4(TBR1):c.1206T>A (p.Cys402Ter)	TBR1 (C402*)	Single nucleotide variant (nonsense)	Autism, susceptibility to, 5	GLikely pathogenic

Format

Sort by

Choose Destination