List of variants reported as uncertain significance for Syndromic intellectual disability

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_015443.4(KANSL1):c.*954C>G	rs150500194	0.00393
NM_001112.4(ADARB1):c.1397-354A>G	rs544025652	0.00113
NM_001378414.1(HDAC4):c.3211G>A (p.Val1071Met)	rs766000387	0.00004
NM_001112.4(ADARB1):c.1101G>C (p.Lys367Asn)	rs778818769	0.00001
NM_001042424.3(NSD2):c.2765T>C (p.Phe922Ser)
NM_001252102.2(KIF21B):c.4723G>T (p.Asp1575Tyr)
NM_001923.5(DDB1):c.2578A>G (p.Thr860Ala)	rs757118401
NM_015443.4(KANSL1):c.*1103dup	rs142756815
NM_015443.4(KANSL1):c.1234_1235dup	rs140510364
NM_015443.4(KANSL1):c.*1354dup	rs67641084
NM_015443.4(KANSL1):c.*1520dup	rs67801660
NM_015443.4(KANSL1):c.*1551del	rs767830420
NM_015443.4(KANSL1):c.*28ACTA[1]	rs767896466
NM_015443.4(KANSL1):c.-90+19C>G	rs1057516026
NM_057175.5(NAA15):c.2368C>G (p.Leu790Val)
NM_170606.3(KMT2C):c.9918G>A (p.Met3306Ile)

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