ClinVar for Gene (Select 100874016) - 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 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 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	HTD2, HTR1F +482 more	Copy number loss	See cases	GPathogenic
Select item 150755	GRCh38/hg38 3p14.3-14.1(chr3:57430538-64884522)x1	ABHD6, ACOX2 +155 more	Copy number loss	See cases	GPathogenic
Select item 57386	GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1	ABHD6, ACOX2 +218 more	Copy number loss	See cases	GPathogenic
Select item 57136	GRCh38/hg38 3p14.2-14.1(chr3:61970847-68465832)x1	ADAMTS9, ADAMTS9-AS1 +106 more	Copy number loss	See cases	GPathogenic

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