ClinVar for MedGen (Select 870751) - ClinVar

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

Format

Sort by

Choose Destination

Links from MedGen

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 598960	NM_001369369.1(FOXN1):c.1247del (p.Pro416fs)	FOXN1 (P416fs)	Deletion (frameshift variant)	Relative macrocephaly +3 more	GLikely pathogenic
Select item 598954	NM_003466.4(PAX8):c.1011del (p.Val339fs)	PAX8 (V339fs +1 more)	Deletion (frameshift variant +1 more)	Hypothyroidism +4 more	GUncertain significance
Select item 144006	NM_007315.4(STAT1):c.1154C>T (p.Thr385Met)	STAT1 (T385M +9 more)	Single nucleotide variant (missense variant)	Inherited Immunodeficiency Diseases +17 more	GPathogenic

Format

Sort by

Choose Destination