ClinVar for OMIM (Select 135600) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 996746	NM_001292034.3(TAB2):c.1398dup (p.Thr467fs)	LOC126859827, TAB2 (T435fs +1 more)	Duplication (frameshift variant)	Congenital heart defects, multiple types, 2	GPathogenic
Select item 579563	NM_031471.6(FERMT3):c.922G>A (p.Gly308Arg)	FERMT3 (G308R +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 446173	NM_130468.4(CHST14):c.453dup (p.Cys152fs)	CHST14 (C152fs)	Duplication (frameshift variant)	Ehlers-Danlos syndrome, musculocontractural type 1	GPathogenic
Select item 446171	NM_013352.4(DSE):c.799A>G (p.Arg267Gly)	DSE (R267G +2 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GPathogenic
Select item 180181	NM_004415.4(DSP):c.7248del (p.Phe2416fs)	DSP (F1817fs +2 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 127092	NM_001039591.3(USP9X):c.6469C>A (p.Leu2157Ile)	USP9X (L2157I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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