Related gene-specific medical variations for Gene (Select 23461) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065938	NM_172232.4(ABCA5):c.4315C>T (p.Arg1439Ter)	ABCA5 (R1439*)	Single nucleotide variant (nonsense)	Gingival fibromatosis-hypertrichosis syndrome	GLikely pathogenic
Select item 3065858	NM_172232.4(ABCA5):c.1632_1633del (p.Arg544fs)	ABCA5 (R544fs)	Microsatellite (frameshift variant)	Gingival fibromatosis-hypertrichosis syndrome	GLikely pathogenic