ClinVar for MedGen (Select 98406) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2571641	NM_005428.4(VAV1):c.909del (p.Asp303fs)	VAV1 (D271fs +1 more)	Deletion (frameshift variant)	Anxiety +10 more	GUncertain significance
Select item 1710147	NM_001303512.2(PDZD4):c.10_16del (p.Asn4fs)	PDZD4 (N4fs)	Deletion (frameshift variant +1 more)	Hyperactivity +4 more	GUncertain significance
Select item 523482	NM_001374353.1(GLI2):c.2593A>T (p.Thr865Ser)	GLI2 (T882S +2 more)	Single nucleotide variant (missense variant)	Arteriovenous malformation +10 more	GUncertain significance
Select item 523258	GRCh37/hg19 17p11.2(chr17:16936603-18184130)	ALKBH5, MIEF2 +20 more	Copy number loss	Brachydactyly +14 more	GPathogenic
Select item 374089	NM_145239.3(PRRT2):c.674A>G (p.Glu225Gly)	MVP-DT, PRRT2 (E225G)	Single nucleotide variant (missense variant)	Infantile convulsions and choreoathetosis +4 more	GUncertain significance
Select item 373992	NM_014141.6(CNTNAP2):c.536A>G (p.Tyr179Cys)	CNTNAP2 (Y179C)	Single nucleotide variant (missense variant)	Focal-onset seizure +3 more	GLikely benign
Select item 267913	46;XX;t(2;7;8;3;16)(q24.2;q31.32;q24.11;q26.2;q22)		Translocation	Specific learning disability +4 more	GUncertain significance
Select item 267891	46;XY;t(9;15)(q13;q11.2)dn		Translocation	Receptive language delay +7 more	GPathogenic
Select item 267867	46;XX;t(6;15)(q23;q22)dn		Translocation	Cerebral calcification +12 more	GLikely pathogenic
Select item 184278	NM_001042492.3(NF1):c.1987G>A (p.Gly663Arg)	NF1 (G663R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 10980	NM_001032382.2(PQBP1):c.459_462del (p.Arg153fs)	PQBP1 (R145fs +1 more)	Microsatellite (frameshift variant +1 more)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic