ClinVar for OMIM (Select 134920) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1326259	NM_006259.3(PRKG2):c.2282dup (p.Asp761fs)	PRKG2 (D281fs +4 more)	Duplication (frameshift variant)	Spondylometaphyseal dysplasia, pagnamenta type	GPathogenic
Select item 1326258	NM_006259.3(PRKG2):c.491dup (p.Asn164fs)	PRKG2, PRKG2-AS1 (N164fs)	Duplication (frameshift variant)	Acromesomelic dysplasia 4	GPathogenic
Select item 1326257	NM_006259.3(PRKG2):c.1705C>T (p.Arg569Ter)	PRKG2 (R569* +4 more)	Single nucleotide variant (nonsense)	Acromesomelic dysplasia 4	GPathogenic
Select item 997414	NM_012262.4(HS2ST1):c.567A>C (p.Arg189Ser)	HS2ST1 (R189S)	Single nucleotide variant (missense variant)	Neurofacioskeletal syndrome with or without renal agenesis	GPathogenic
Select item 997413	NM_012262.4(HS2ST1):c.59_62delinsGAA (p.Phe20_Ala21delinsTer)	HS2ST1	Indel (nonsense)	Neurofacioskeletal syndrome with or without renal agenesis	GPathogenic
Select item 997410	NM_012262.4(HS2ST1):c.342del (p.Pro114_Val115insTer)	HS2ST1	Deletion (frameshift variant)	NEUROFACIOSKELETAL SYNDROME WITHOUT RENAL AGENESIS	GPathogenic
Select item 417796	NM_001440.4(EXTL3):c.1015C>T (p.Arg339Trp)	EXTL3 (R339W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 16340	NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)	FGFR3 (P250R)	Single nucleotide variant (missense variant +1 more)	Craniosynostosis syndrome +26 more	GPathogenic/Likely pathogenic

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