ClinVar (all) for Orgtrack (Select 505218) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 156553	NM_018060.4(IARS2):c.2726C>T (p.Pro909Leu)	IARS2 (P909L)	Single nucleotide variant (missense variant)	partial sensorineural deafness +4 more	GPathogenic
Select item 156552	NM_018060.4(IARS2):c.2122G>A (p.Glu708Lys)	IARS2 (E708K)	Single nucleotide variant (missense variant)	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome +2 more	GConflicting classifications of pathogenicity
Select item 156551	NM_018060.4(IARS2):c.1821G>A (p.Trp607Ter)	IARS2 (W607*)	Single nucleotide variant (nonsense)	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome	GUncertain significance
Select item 155766	NM_001322934.2(NFKB2):c.2600C>T (p.Ala867Val)	NFKB2 (A866V +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10 +1 more	GConflicting classifications of pathogenicity
Select item 155765	NM_001322934.2(NFKB2):c.2594A>G (p.Asp865Gly)	NFKB2 (D864G +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GPathogenic
Select item 155764	NM_001322934.2(NFKB2):c.2556_2563del (p.Arg853fs)	NFKB2 (R811fs +1 more)	Deletion (frameshift variant)	Immunodeficiency, common variable, 10	GPathogenic
Select item 65385	NM_001322934.2(NFKB2):c.2557C>T (p.Arg853Ter)	NFKB2, PSD (R853* +1 more)	Single nucleotide variant (nonsense)	not specified +4 more	GPathogenic

ClinVar