C0020224[trait identifier] AND "Center for Reproductive Medicine, Peki - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 978616	NM_000111.3(SLC26A3):c.2006C>A (p.Ser669Ter)	SLC26A3 (S669*)	Single nucleotide variant (nonsense)	Gastrointestinal obstruction +2 more	GPathogenic
Select item 978618	NM_000111.3(SLC26A3):c.1000G>T (p.Glu334Ter)	SLC26A3 (E334*)	Single nucleotide variant (nonsense)	Intestinal obstruction +2 more	GPathogenic
Select item 55994	NM_000111.3(SLC26A3):c.269_270dup (p.Gly91fs)	SLC26A3 (G91fs)	Duplication (frameshift variant)	not provided +3 more	GPathogenic
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 978637	NM_181789.4(GLDN):c.1027G>A (p.Gly343Ser)	GLDN (G219S +1 more)	Single nucleotide variant (missense variant)	Multiple joint contractures +1 more	GLikely pathogenic
Select item 268107	NM_181789.4(GLDN):c.1240C>T (p.Arg414Ter)	GLDN (R414* +1 more)	Single nucleotide variant (nonsense)	Polyhydramnios +1 more	GPathogenic
Select item 978654	NM_001142864.4(PIEZO1):c.4885G>A (p.Gly1629Arg)	PIEZO1 (G1629R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 978653	NM_001142864.4(PIEZO1):c.4519G>C (p.Val1507Leu)	PIEZO1 (V1507L)	Single nucleotide variant (missense variant)	Thickened nuchal skin fold +2 more	GUncertain significance