"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 983078	NM_021008.4(DEAF1):c.1173del (p.Glu391fs)	DEAF1 (E149fs +2 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 24	GUncertain significance
Select item 976209	NM_021008.4(DEAF1):c.979G>A (p.Ala327Thr)	DEAF1 (A327T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 976339	NM_021008.4(DEAF1):c.842G>C (p.Cys281Ser)	DEAF1 (C281S +1 more)	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal dominant 24	GLikely pathogenic
Select item 133293	NM_021008.4(DEAF1):c.670C>T (p.Arg224Trp)	DEAF1 (R224W)	Single nucleotide variant (5 prime UTR variant +2 more)	Intellectual disability, autosomal dominant 24 +1 more	GPathogenic/Likely pathogenic
Select item 1297022	NM_021008.4(DEAF1):c.613G>C (p.Val205Leu)	DEAF1 (V205L)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 24	GLikely pathogenic
Select item 1285588	NM_021008.3:c.(1503+1_1504-1)_(1593+1_1594-1)del	DEAF1	Deletion	Intellectual disability-epilepsy-extrapyramidal syndrome	GUncertain significance

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