C2678312[trait identifier] AND "Hacettepe Genetic Diseases Diagnosis C - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 599221	NM_015311.3(OBSL1):c.1277_1282+5del	OBSL1	Deletion (splice donor variant)	3M syndrome 1	GLikely pathogenic
Select item 599222	NM_015311.3(OBSL1):c.1187G>A (p.Arg396His)	OBSL1 (R396H)	Single nucleotide variant (missense variant)	3M syndrome 1	GLikely pathogenic
Select item 599223	NM_015311.3(OBSL1):c.1125dup (p.Glu376Ter)	OBSL1 (E376*)	Duplication (nonsense)	3M syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 599272	NM_014780.5(CUL7):c.4115del (p.Glu1372fs)	CUL7 (E1372fs +2 more)	Deletion (frameshift variant)	3M syndrome 1	GLikely pathogenic
Select item 599184	NM_014780.5(CUL7):c.3685C>T (p.Gln1229Ter)	CUL7 (Q1229* +2 more)	Single nucleotide variant (nonsense)	3M syndrome 1	GLikely pathogenic
Select item 599273	NM_014780.5(CUL7):c.3089del (p.Pro1030fs)	CUL7 (P1030fs +1 more)	Deletion (frameshift variant)	3M syndrome 1	GLikely pathogenic
Select item 599185	NM_014780.5(CUL7):c.1482G>A (p.Trp494Ter)	CUL7 (W494* +1 more)	Single nucleotide variant (nonsense)	3M syndrome 1	GLikely pathogenic
Select item 929436	NM_014780.5(CUL7):c.418_419del (p.Thr140fs)	CUL7 (T140fs)	Microsatellite (frameshift variant)	3M syndrome 1	GPathogenic
Select item 599218	NM_014780.5(CUL7):c.206dup (p.Met69fs)	CUL7 (M69fs)	Duplication (frameshift variant)	3M syndrome 1	GLikely pathogenic

ClinVar