ClinVar for MedGen (Select 48576) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 208406	NM_015316.3(PPP1R13B):c.215G>A (p.Arg72Gln)	PPP1R13B (R72Q)	Single nucleotide variant (missense variant)	Childhood-onset schizophrenia	GBenign
Select item 208405	NM_017514.5(PLXNA3):c.1847G>A (p.Arg616Gln)	PLXNA3 (R616Q)	Single nucleotide variant (missense variant)	Childhood-onset schizophrenia +1 more	GBenign/Likely benign
Select item 208404	NM_001326411.2(PISD):c.322-3886G>A	LOC110121499, PISD	Single nucleotide variant (synonymous variant +1 more)	Childhood-onset schizophrenia	GBenign
Select item 208402	NM_000961.4(PTGIS):c.824G>A (p.Arg275Gln)	PTGIS (R275Q)	Single nucleotide variant (missense variant)	Childhood-onset schizophrenia	GLikely pathogenic
Select item 208401	NM_021975.4(RELA):c.329T>C (p.Ile110Thr)	RELA (I110T)	Single nucleotide variant (missense variant)	Childhood-onset schizophrenia	GLikely pathogenic
Select item 208399	NM_138706.5(B3GNT6):c.552C>G (p.Asp184Glu)	B3GNT6 (D184E)	Single nucleotide variant (missense variant)	Childhood-onset schizophrenia	GLikely pathogenic
Select item 208398	NM_032538.3(TTBK1):c.773G>A (p.Arg258Gln)	TTBK1 (R258Q)	Single nucleotide variant (missense variant)	Childhood-onset schizophrenia	GLikely pathogenic
Select item 208397	NM_001035.3(RYR2):c.2238A>C (p.Gln746His)	RYR2 (Q746H)	Single nucleotide variant (missense variant)	Childhood-onset schizophrenia	GLikely pathogenic
Select item 208396	NM_001035.3(RYR2):c.2236C>T (p.Gln746Ter)	RYR2 (Q746*)	Single nucleotide variant (nonsense)	Childhood-onset schizophrenia	GLikely pathogenic
Select item 208395	NM_015009.3(PDZRN3):c.820G>A (p.Asp274Asn)	PDZRN3 (D274N)	Single nucleotide variant (missense variant)	Childhood-onset schizophrenia	GLikely pathogenic
Select item 208394	NM_002402.4(MEST):c.559C>T (p.Pro187Ser)	MEST (P178S +2 more)	Single nucleotide variant (missense variant)	Childhood-onset schizophrenia	GLikely pathogenic
Select item 208393	NM_001040025.3(ARL16):c.-41G>T	ARL16, LOC112533681	Single nucleotide variant (5 prime UTR variant +1 more)	Childhood-onset schizophrenia	GLikely pathogenic
Select item 208391	NM_207370.4(GPR153):c.217C>T (p.Arg73Cys)	GPR153 (R73C)	Single nucleotide variant (missense variant)	Childhood-onset schizophrenia	GLikely pathogenic
Select item 208390	NM_198993.5(STAC2):c.257G>A (p.Arg86Lys)	STAC2 (R86K)	Single nucleotide variant (missense variant +1 more)	Childhood-onset schizophrenia	GLikely pathogenic
Select item 208389	NM_005529.7(HSPG2):c.4233C>T (p.Tyr1411=)	HSPG2	Single nucleotide variant (synonymous variant)	Schwartz-Jampel syndrome +2 more	GConflicting classifications of pathogenicity
Select item 208388	NM_005685.4(GTF2IRD1):c.973C>T (p.Arg325Cys)	GTF2IRD1 (R325C +1 more)	Single nucleotide variant (missense variant)	Childhood-onset schizophrenia	GLikely pathogenic
Select item 208387	NM_000210.4(ITGA6):c.*91AGA[1]	ITGA6, PDK1-AS1 (E1063del +1 more)	Microsatellite (inframe_deletion +1 more)	Childhood-onset schizophrenia	GLikely pathogenic
Select item 208386	NM_003774.5(GALNT4):c.1194C>T (p.Asn398=)	GALNT4, POC1B +1 more	Single nucleotide variant (intron variant +1 more)	Childhood-onset schizophrenia	GLikely pathogenic
Select item 208384	NM_144687.4(NLRP12):c.858C>G (p.Pro286=)	NLRP12	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 208383	NM_178860.5(SEZ6):c.678_686del (p.Thr227_Thr229del)	SEZ6	Deletion (inframe_deletion)	Childhood-onset schizophrenia	GLikely pathogenic
Select item 208382	NM_207361.6(FREM2):c.8351G>A (p.Arg2784Lys)	FREM2 (R2784K)	Single nucleotide variant (missense variant)	Childhood-onset schizophrenia	GLikely pathogenic

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Items: 21