"Institute of Human Genetics, University of Leipzig Medical Center"[su - 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 2576554	NM_017849.4(TMEM127):c.410-1G>C	TMEM127	Single nucleotide variant (splice acceptor variant)	Pheochromocytoma	GPathogenic
Select item 1804110	NM_017849.4(TMEM127):c.208del (p.Asp70fs)	TMEM127 (D70fs)	Deletion (frameshift variant)	Pheochromocytoma	GLikely pathogenic
Select item 997821	Single allele	ANKRD36B, ANKRD39 +20 more	Deletion	Intellectual disability	GPathogenic

Format

Sort by

Choose Destination