ClinVar for MedGen (Select 462292) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3255516	NM_001165967.2(HES7):c.113T>C (p.Leu38Pro)	HES7 (L38P)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 4, autosomal recessive	GLikely pathogenic
Select item 1705721	NM_001165967.2(HES7):c.173T>G (p.Ile58Arg)	HES7 (I58R)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 4, autosomal recessive +1 more	GUncertain significance
Select item 559880	NM_001165967.2(HES7):c.86A>G (p.Asn29Ser)	HES7 (N29S)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 4, autosomal recessive	GLikely pathogenic
Select item 91404	NM_001165967.2(HES7):c.400_409dup (p.Arg137fs)	HES7 (R132fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 30698	NM_001165967.2(HES7):c.172A>G (p.Ile58Val)	HES7 (I58V)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 4, autosomal recessive	GPathogenic
Select item 30697	NM_001165967.2(HES7):c.571G>T (p.Asp191Tyr)	HES7, LOC130060203 (D186Y +1 more)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 4, autosomal recessive	GPathogenic
Select item 30696	NM_001165967.2(HES7):c.73C>T (p.Arg25Trp)	HES7 (R25W)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 4, autosomal recessive	GPathogenic

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