ClinVar for MedGen (Select 42461) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 981741	NM_004187.5(KDM5C):c.3332_3335del (p.Asp1111fs)	KDM5C (D1044fs +2 more)	Deletion (frameshift variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GLikely pathogenic
Select item 981735	NM_001015877.2(PHF6):c.27del (p.Pro11fs)	PHF6 (P11fs)	Deletion (frameshift variant)	Hirsutism +1 more	GPathogenic
Select item 981689	NM_001374828.1(ARID1B):c.578_589del (p.Leu193_Phe196del)	LOC115308161, ARID1B	Deletion (non-coding transcript variant +1 more)	Hirsutism +1 more	GLikely pathogenic
Select item 816894	NM_004586.3(RPS6KA3):c.407-4T>G	RPS6KA3	Single nucleotide variant (intron variant)	Hirsutism +3 more	GConflicting classifications of pathogenicity
Select item 522088	NM_001197104.2(KMT2A):c.3790C>T (p.Arg1264Ter)	KMT2A (R1264*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic
Select item 375373	NM_138615.3(DHX30):c.2344C>T (p.Arg782Trp)	DHX30 (R782W +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with severe motor impairment and absent language +1 more	GPathogenic
Select item 374087	NM_001429.4(EP300):c.2053+4A>T	EP300	Single nucleotide variant (intron variant)	Menke-Hennekam syndrome 2 +7 more	GUncertain significance
Select item 373939	NM_002025.4(AFF2):c.3209A>G (p.His1070Arg)	AFF2 (H1070R +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, moderate +6 more	GUncertain significance
Select item 268008	46;XX;inv(5)(q14q33)dn		Inversion	Protruding tongue +7 more	GUncertain significance
Select item 267941	46;XY;inv(6)(p22q13)dn		Inversion	Hypotonia +22 more	GPathogenic
Select item 267816	46;XY;inv(5)(q13q15)dn		Inversion	Partial duplication of thumb phalanx +4 more	GLikely pathogenic
Select item 267799	46;XY;t(3;17)(p14.3;q24.3)dn		Translocation	Abnormality of the tongue +15 more	GLikely pathogenic
Select item 218934	t(12;19)(q24.21;q12)	MED13L	Translocation	Hypertelorism +13 more	GPathogenic
Select item 183285	NM_018896.5(CACNA1G):c.664TTC[1] (p.Phe223del)	CACNA1G (F223del)	Microsatellite (inframe_deletion +1 more)	not provided	GLikely pathogenic
Select item 180197	NM_006306.4(SMC1A):c.796AAG[2] (p.Lys268del)	SMC1A (K268del +1 more)	Microsatellite (inframe_deletion)	Congenital muscular hypertrophy-cerebral syndrome +6 more	GPathogenic
Select item 30017	NM_003070.5(SMARCA2):c.3602C>T (p.Ala1201Val)	SMARCA2 (A1201V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic