ClinVar for MedGen (Select 162756) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1708334	NM_015330.6(SPECC1L):c.1024A>G (p.Met342Val)	SPECC1L, SPECC1L-ADORA2A (M342V)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital omphalocele	GUncertain significance
Select item 1704314	GRCh37/hg19 17p13.3(chr17:468095-661692)x1	GEMIN4, TLCD3A +1 more	Copy number loss	Congenital omphalocele	GUncertain significance
Select item 1700703	NM_000264.5(PTCH1):c.945+5G>T	PTCH1	Single nucleotide variant (intron variant)	Congenital omphalocele	GUncertain significance
Select item 1683733	NM_033116.6(NEK9):c.326ACA[1] (p.Asn110del)	NEK9 (N110del)	Microsatellite (inframe_deletion +1 more)	Congenital omphalocele +1 more	GUncertain significance
Select item 1683530	NM_001110556.2(FLNA):c.571G>T (p.Asp191Tyr)	FLNA (D191Y)	Single nucleotide variant (missense variant)	Hypotonia +3 more	GUncertain significance
Select item 986382	NM_005560.6(LAMA5):c.857G>T (p.Arg286Leu)	LAMA5 (R286L)	Single nucleotide variant (missense variant)	Congenital omphalocele	GUncertain significance
Select item 816936	NM_014489.4(PGAP2):c.97G>A (p.Ala33Thr)	PGAP2 (A33T +2 more)	Single nucleotide variant (missense variant +4 more)	Congenital omphalocele +4 more	GUncertain significance
Select item 374077	NM_000302.4(PLOD1):c.1562G>A (p.Trp521Ter)	PLOD1 (W521* +1 more)	Single nucleotide variant (nonsense)	Narrow chest +18 more	GPathogenic

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