"PreventionGenetics, part of Exact Sciences"[submitter] AND "ATP2C1"[g - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3035209	NM_001199180.2(ATP2C1):c.62T>A (p.Ile21Asn)	ATP2C1 (I21N)	Single nucleotide variant (missense variant)	ATP2C1-related disorder	GBenign
Select item 3045395	NM_001378687.1(ATP2C1):c.-8G>A	ATP2C1	Single nucleotide variant (5 prime UTR variant +1 more)	ATP2C1-related disorder	GLikely benign
Select item 3048246	NM_001378687.1(ATP2C1):c.118-8T>C	ATP2C1	Single nucleotide variant (intron variant)	ATP2C1-related disorder	GLikely benign
Select item 783404	NM_001378687.1(ATP2C1):c.691G>A (p.Val231Ile)	ATP2C1 (V226I +3 more)	Single nucleotide variant (missense variant)	ATP2C1-related disorder +1 more	GBenign
Select item 377375	NM_001378687.1(ATP2C1):c.1623G>C (p.Leu541Phe)	ATP2C1 (L541F +3 more)	Single nucleotide variant (missense variant)	ATP2C1-related disorder +2 more	GBenign
Select item 3040036	NM_001378687.1(ATP2C1):c.1650T>G (p.Thr550=)	ATP2C1	Single nucleotide variant (synonymous variant)	ATP2C1-related disorder	GLikely benign
Select item 1598576	NM_001378687.1(ATP2C1):c.2058-20C>G	ATP2C1	Single nucleotide variant (intron variant)	ATP2C1-related disorder +1 more	GBenign
Select item 1686484	NM_001378687.1(ATP2C1):c.2058-17T>C	ATP2C1	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3048509	NM_001378687.1(ATP2C1):c.2400C>T (p.Asp800=)	ATP2C1	Single nucleotide variant (synonymous variant)	ATP2C1-related disorder	GLikely benign
Select item 343332	NM_001378687.1(ATP2C1):c.2598G>A (p.Lys866=)	ATP2C1	Single nucleotide variant (synonymous variant)	ATP2C1-related disorder +3 more	GBenign
Select item 3048711	NM_014065.4(ASTE1):c.1708C>T (p.Arg570Ter)	ASTE1, ATP2C1 (R570* +1 more)	Single nucleotide variant (missense variant +3 more)	ASTE1-related disorder	GLikely benign