ClinVar for MedGen (Select 1676687) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1600243	NM_022463.5(NXN):c.1000+13C>T	NXN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 984984	GRCh37/hg19 17p13.3(chr17:1-1026797)x1	GEMIN4, ABR +10 more	Copy number loss	Robinow syndrome, autosomal recessive 2	GLikely pathogenic
Select item 984983	NM_022463.5(NXN):c.817C>T (p.Gln273Ter)	NXN (Q165* +1 more)	Single nucleotide variant (nonsense)	Robinow syndrome, autosomal recessive 2	GPathogenic
Select item 712204	NM_022463.5(NXN):c.543C>T (p.Asn181=)	NXN	Single nucleotide variant (synonymous variant)	Robinow syndrome, autosomal recessive 2 +1 more	GBenign/Likely benign
Select item 638809	NM_022463.5(NXN):c.-6172_361-75725del	LOC101927727, LOC121587569 +2 more	Deletion	Robinow syndrome, autosomal recessive 2	GPathogenic
Select item 488064	NC_000017.10:g.[704261_704263del];[(729319_882558)_(882998_?)]del			Distal shortening of limbs	GLikely pathogenic
Select item 488062	NM_022463.5(NXN):c.1231GAG[1] (p.Glu412del)	NXN (E304del +1 more)	Microsatellite (inframe_deletion)	Robinow syndrome, autosomal recessive 2	GPathogenic
Select item 488056	NM_022463.5(NXN):c.625C>T (p.Arg209Ter)	NXN (R209* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GLikely pathogenic

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