"Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Univer - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 599509	NM_173628.4(DNAH17):c.6563G>A (p.Arg2188Gln)	DNAH17, DNAH17-AS1 (R2188Q)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 599507	NM_173628.4(DNAH17):c.3766G>A (p.Gly1256Arg)	DNAH17 (G1256R)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 599508	NM_173628.4(DNAH17):c.779C>T (p.Ala260Val)	DNAH17 (A260V)	Single nucleotide variant (missense variant)	Short stature	GUncertain significance

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