Related gene-specific medical variations for Gene (Select 132204) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3172901	NM_001130003.2(SYNPR):c.107C>T (p.Ala36Val)	SYNPR, SYNPR-AS1 (A36V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685924	GRCh37/hg19 3p14.2(chr3:63216205-63462935)x3	SYNPR	Copy number gain	not provided	GUncertain significance
Select item 2360412	NM_001130003.2(SYNPR):c.200A>G (p.Tyr67Cys)	SYNPR, SYNPR-AS1 (Y47C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210105	NM_001130003.2(SYNPR):c.115G>A (p.Gly39Ser)	SYNPR, SYNPR-AS1 (G19S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206783	NM_001130003.2(SYNPR):c.154G>A (p.Val52Ile)	SYNPR, SYNPR-AS1 (V32I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 980505	GRCh37/hg19 3p14.2(chr3:62894703-63320384)x3	SYNPR	Copy number gain	not provided	GUncertain significance
Select item 973608	GRCh37/hg19 3p14.2(chr3:62939217-63583768)x3	SYNPR	Copy number gain	Hypotonia +2 more	GUncertain significance

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