ClinVar for MedGen (Select 11458) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2571627	NM_001024383.2(NAV3):c.664C>T (p.Gln222Ter)	NAV3 (Q222*)	Single nucleotide variant (nonsense)	Hearing impairment +6 more	GUncertain significance
Select item 2570654	NM_020922.5(WNK3):c.4000dup (p.Arg1334fs)	WNK3 (R1287fs +1 more)	Duplication (frameshift variant)	Motor stereotypies +8 more	GLikely pathogenic
Select item 523307	NC_012920.1(MT-CO3):m.9355A>T	MT-CO3	Single nucleotide variant	Chronic fatigue +12 more	GUncertain significance
Select item 267861	46;XX;t(2;11)(q11.2;p13)dn		Translocation	Obesity +12 more	GPathogenic
Select item 133328	NM_001371928.1(AHDC1):c.2547del (p.Ser850fs)	AHDC1 (S850fs)	Deletion (frameshift variant)	Delayed speech and language development +3 more	GPathogenic
Select item 133327	NM_001371928.1(AHDC1):c.2898del (p.Tyr967fs)	AHDC1 (Y967fs)	Deletion (frameshift variant)	Delayed speech and language development +2 more	GPathogenic
Select item 133326	NM_001371928.1(AHDC1):c.2373_2374del (p.Cys791fs)	AHDC1 (C791fs)	Microsatellite (frameshift variant)	not provided +4 more	GPathogenic

ClinVar