CN130023[trait identifier] AND "Center for Reproductive Medicine, Peki - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 978633	NM_080680.3(COL11A2):c.1773+8T>A	COL11A2	Single nucleotide variant (intron variant)	Heart, malformation of +3 more	GUncertain significance
Select item 497724	NM_080680.3(COL11A2):c.966dup (p.Thr323fs)	COL11A2 (T323fs)	Duplication (frameshift variant +1 more)	Heart, malformation of +8 more	GConflicting classifications of pathogenicity
Select item 978646	NM_018055.5(NODAL):c.823C>T (p.Arg275Cys)	NODAL (R142C +1 more)	Single nucleotide variant (missense variant)	Heart, malformation of	GPathogenic
Select item 978647	NM_018055.5(NODAL):c.169ATC[1] (p.Ile58del)	NODAL (I58del)	Microsatellite (inframe_deletion +1 more)	Heart, malformation of	GUncertain significance
Select item 978635	NM_001377.3(DYNC2H1):c.5920G>T (p.Gly1974Ter)	DYNC2H1 (G1974*)	Single nucleotide variant (nonsense)	Heart, malformation of +4 more	GLikely pathogenic
Select item 978634	NM_001377.3(DYNC2H1):c.9908T>C (p.Ile3303Thr)	DYNC2H1 (I3303T +1 more)	Single nucleotide variant (missense variant)	Heart, malformation of +4 more	GUncertain significance
Select item 978657	NM_031307.4(PUS3):c.838C>T (p.Arg280Ter)	HYLS1, PUS3 (R280* +1 more)	Single nucleotide variant (nonsense +1 more)	PUS3-related condition +5 more	GLikely pathogenic
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 978628	NM_001112726.3(CEP170B):c.1102A>G (p.Lys368Glu)	CEP170B (K298E +1 more)	Single nucleotide variant (missense variant)	Heart, malformation of	GUncertain significance
Select item 978629	NM_001112726.3(CEP170B):c.3223C>T (p.Arg1075Trp)	CEP170B (R1005W +1 more)	Single nucleotide variant (missense variant)	Heart, malformation of	GUncertain significance
Select item 978620	NM_005089.4(ZRSR2):c.1207_1208del (p.Arg403fs)	ZRSR2 (R403fs)	Deletion (frameshift variant)	Heart, malformation of +3 more	GLikely pathogenic
Select item 978648	NM_007363.5(NONO):c.246_249del (p.Pro83fs)	NONO (P83fs)	Deletion (frameshift variant +1 more)	Heart, malformation of	GLikely pathogenic