ClinVar (all) for Orgtrack (Select 507231) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248645	NM_001042424.3(NSD2):c.2714C>T (p.Pro905Leu)	NSD2 (P905L)	Single nucleotide variant (missense variant)	Rauch-Steindl syndrome	GPathogenic
Select item 2504605	NM_001291415.2(KDM6A):c.816T>G (p.Tyr272Ter)	KDM6A (Y21* +1 more)	Single nucleotide variant (nonsense +1 more)	Kabuki syndrome 2	GPathogenic
Select item 2445226	NM_145725.3(TRAF3):c.1458del (p.Pro487fs)	TRAF3 (P404fs +4 more)	Deletion (frameshift variant)	TRAF3 haploinsufficiency	GPathogenic
Select item 1178322	t(11;17)(p15.4;q24.3)	SOX9	Translocation	Camptomelic dysplasia	GPathogenic
Select item 998175	Single allele	TNFAIP3	Deletion	Autoinflammatory syndrome, familial, Behcet-like	GPathogenic
Select item 715093	NM_003482.4(KMT2D):c.12485G>A (p.Arg4162Gln)	KMT2D (R4162Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 694368	GRCh37/hg19 6q23.3(chr6:138065475-138252638)x1	TNFAIP3	Copy number loss	Autoinflammatory syndrome, familial, Behcet-like	GPathogenic

ClinVar