"Baylor Genetics"[submitter] AND "ATN1"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582516	NM_001940.4(ATN1):c.1604C>A (p.Ser535Tyr)	ATN1 (S527Y +3 more)	Single nucleotide variant (missense variant)	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies +1 more	GUncertain significance
Select item 625811	GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497)	ACRBP, ACSM4 +102 more	Copy number gain	not provided	GPathogenic
Select item 625810	GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292)	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 625809	GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)	A2M, A2ML1 +193 more	Copy number gain	not provided	GPathogenic

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