ClinVar for MedGen (Select 332440) - ClinVar - NCBI

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

Links from MedGen

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1299472	NM_001284401.2(TAMM41):c.411+1G>T	TAMM41	Single nucleotide variant (splice donor variant)	Ankle flexion contracture +5 more	GPathogenic
Select item 1299471	NM_001284401.2(TAMM41):c.256T>C (p.Ser86Pro)	TAMM41 (S45P +1 more)	Single nucleotide variant (missense variant +2 more)	Ankle flexion contracture +5 more	GPathogenic
Select item 978659	NM_031307.4(PUS3):c.340T>C (p.Cys114Arg)	HYLS1, PUS3 (C114R)	Single nucleotide variant (missense variant +1 more)	Aplasia/Hypoplasia of the cerebellum +4 more	GLikely pathogenic
Select item 978657	NM_031307.4(PUS3):c.838C>T (p.Arg280Ter)	HYLS1, PUS3 (R280* +1 more)	Single nucleotide variant (nonsense +1 more)	Anencephaly +5 more	GLikely pathogenic
Select item 978615	NM_001286577.2(C2CD3):c.159_160insC (p.Lys54fs)	C2CD3 (K54fs)	Insertion (frameshift variant)	Rudimentary fibula +1 more	GLikely pathogenic
Select item 715514	NM_001286577.2(C2CD3):c.3741G>C (p.Gln1247His)	C2CD3 (Q1247H)	Single nucleotide variant (missense variant)	Rudimentary fibula +2 more	GConflicting classifications of pathogenicity
Select item 548021	NM_005199.5(CHRNG):c.202C>T (p.Arg68Ter)	CHRNG (R68*)	Single nucleotide variant (nonsense)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 267927	46;XY;t(4;14)(p14;q11.2)dn		Translocation	Epicanthus +28 more	GUncertain significance
Select item 18336	NM_005199.5(CHRNG):c.13C>T (p.Gln5Ter)	CHRNG (Q5*)	Single nucleotide variant (nonsense)	Arthrogryposis-like hand anomaly +2 more	GLikely pathogenic