C1837397[trait identifier] AND "Equipe Genetique des Anomalies du Deve - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523673	NM_006593.4(TBR1):c.673A>T (p.Ile225Phe)	TBR1 (I225F)	Single nucleotide variant (missense variant)	Autistic behavior +1 more	GLikely pathogenic
Select item 523675	NM_006593.4(TBR1):c.811T>C (p.Trp271Arg)	TBR1 (W271R)	Single nucleotide variant (missense variant)	Autistic behavior +1 more	GLikely pathogenic
Select item 932941	NM_006593.4(TBR1):c.1105_1113del (p.Val369_Ala371del)	TBR1	Deletion (inframe_deletion)	Limb myoclonus +3 more	GLikely pathogenic
Select item 224144	NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs)	LOC129935026, TBR1 (T532fs)	Microsatellite (frameshift variant)	Severe global developmental delay +12 more	GPathogenic/Likely pathogenic
Select item 932942	NM_006593.4(TBR1):c.1635_1644dup (p.Ser549fs)	TBR1 (S549fs)	Duplication (frameshift variant)	Delayed fine motor development +4 more	GLikely pathogenic
Select item 523683	NM_006593.4(TBR1):c.1639_1648dup (p.Pro550fs)	TBR1 (P550fs)	Duplication (frameshift variant)	Autistic behavior +1 more	GLikely pathogenic
Select item 523684	NM_006593.4(TBR1):c.1652dup (p.Gln552fs)	TBR1 (Q552fs)	Duplication (frameshift variant)	Severe global developmental delay +9 more	GLikely pathogenic
Select item 523685	NM_006593.4(TBR1):c.1653_1654del (p.Gln552fs)	TBR1 (Q552fs)	Deletion (frameshift variant)	Intellectual disability +2 more	GLikely pathogenic
Select item 932937	GRCh37/hg19 2q24.2-24.3(chr2:160075929-164666149)	BAZ2B, CD302 +19 more	Copy number loss	Severe global developmental delay +1 more	GLikely pathogenic
Select item 932936	GRCh37/hg19 2q24.2(chr2:161561653-163178787)	DPP4, FAP +6 more	Copy number loss	Severe global developmental delay +1 more	GLikely pathogenic
Select item 523687	Single allele	DPP4, FAP +6 more	Deletion	Severe global developmental delay +1 more	GLikely pathogenic
Select item 523686	Single allele	BAZ2B, CD302 +19 more	Deletion	Severe global developmental delay +1 more	GLikely pathogenic
Select item 983496	NM_001382637.1(OTUD7A):c.697C>T (p.Leu233Phe)	OTUD7A (L233F)	Single nucleotide variant (missense variant)	Language disorder +3 more	GPathogenic