ClinVar (all) for Orgtrack (Select 506705) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1327056	NM_015202.5(KATNIP):c.2959del (p.Asp987fs)	KATNIP (D987fs)	Deletion (frameshift variant)	Joubert syndrome 26	GLikely pathogenic
Select item 1327055	NM_001365088.1(SLC12A6):c.1591+3A>G	SLC12A6	Single nucleotide variant (intron variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 1027364	NM_012233.3(RAB3GAP1):c.297del (p.Gln99fs)	RAB3GAP1 (Q99fs)	Deletion (frameshift variant)	Warburg micro syndrome	GLikely pathogenic
Select item 834266	NM_000033.4(ABCD1):c.896A>G (p.His299Arg)	ABCD1 (H299R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 635182	NM_032856.5(WDR73):c.767G>A (p.Arg256Gln)	WDR73 (R256Q)	Single nucleotide variant (missense variant +1 more)	Galloway-Mowat syndrome 1	GLikely pathogenic
Select item 561188	NM_021044.4(DHH):c.1011del (p.Asn337fs)	DHH (N337fs)	Deletion (frameshift variant)	46,XY sex reversal 7	GPathogenic
Select item 561187	NM_021044.4(DHH):c.528C>A (p.Tyr176Ter)	DHH (Y176*)	Single nucleotide variant (nonsense)	46,XY sex reversal 7	GPathogenic
Select item 242543	NM_032856.5(WDR73):c.293T>C (p.Leu98Pro)	WDR73 (L98P)	Single nucleotide variant (missense variant +1 more)	Galloway-Mowat syndrome 1	GLikely pathogenic

ClinVar