ClinVar for MedGen (Select 75589) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338254	NM_170665.4(ATP2A2):c.1997G>A (p.Arg666Gln)	ATP2A2, LOC126861637 (R541Q +2 more)	Single nucleotide variant (missense variant)	Acrokeratosis verruciformis of Hopf	GBenign
Select item 1342440	NM_170665.4(ATP2A2):c.2030G>C (p.Arg677Pro)	ATP2A2, LOC126861637 (R677P)	Single nucleotide variant (missense variant)	Acrokeratosis verruciformis of Hopf +1 more	GUncertain significance
Select item 931158	NM_170665.4(ATP2A2):c.136+21_136+22del	ATP2A2	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 930659	NM_170665.4(ATP2A2):c.688A>G (p.Thr230Ala)	ATP2A2 (T230A)	Single nucleotide variant (missense variant)	Acrokeratosis verruciformis of Hopf	GUncertain significance
Select item 804551	NM_170665.4(ATP2A2):c.1287+3A>G	ATP2A2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 776751	NM_170665.4(ATP2A2):c.2202G>A (p.Leu734=)	ATP2A2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 585465	NM_170665.4(ATP2A2):c.545-7C>T	ATP2A2	Single nucleotide variant (intron variant)	Acrokeratosis verruciformis of Hopf +2 more	GBenign
Select item 446883	NM_170665.4(ATP2A2):c.2925C>T (p.Pro975=)	ATP2A2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 379690	NM_170665.4(ATP2A2):c.1096-16C>T	ATP2A2	Single nucleotide variant (intron variant)	Keratosis follicularis +3 more	GBenign/Likely benign
Select item 377532	NM_170665.4(ATP2A2):c.220-18G>A	ATP2A2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 307185	NM_170665.4(ATP2A2):c.2860-10TG[2]	ATP2A2	Microsatellite (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 307184	NM_170665.4(ATP2A2):c.2742-6C>T	ATP2A2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 307183	NM_170665.4(ATP2A2):c.2628A>G (p.Lys876=)	ATP2A2, LOC126861638	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 307180	NM_170665.4(ATP2A2):c.2319-12G>A	ATP2A2	Single nucleotide variant (intron variant)	Keratosis follicularis +2 more	GBenign
Select item 307178	NM_170665.4(ATP2A2):c.2172G>A (p.Ala724=)	ATP2A2	Single nucleotide variant (synonymous variant)	Acrokeratosis verruciformis of Hopf +2 more	GBenign
Select item 307177	NM_170665.4(ATP2A2):c.2058C>T (p.Ile686=)	ATP2A2, LOC126861637	Single nucleotide variant (synonymous variant)	Acrokeratosis verruciformis of Hopf +2 more	GBenign
Select item 307172	NM_170665.4(ATP2A2):c.1420-8C>G	ATP2A2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 307171	NM_170665.4(ATP2A2):c.1323A>G (p.Thr441=)	ATP2A2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 307170	NM_170665.4(ATP2A2):c.1167T>C (p.Tyr389=)	ATP2A2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 307165	NM_170665.4(ATP2A2):c.327A>G (p.Glu109=)	ATP2A2	Single nucleotide variant (synonymous variant)	Acrokeratosis verruciformis of Hopf +3 more	GBenign/Likely benign
Select item 307159	NM_170665.4(ATP2A2):c.81A>G (p.Glu27=)	ATP2A2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 307158	NM_170665.4(ATP2A2):c.-10C>G	ATP2A2	Single nucleotide variant (5 prime UTR variant)	Acrokeratosis verruciformis of Hopf +3 more	GBenign/Likely benign
Select item 29610	NM_170665.4(ATP2A2):c.2093C>T (p.Ala698Val)	ATP2A2, LOC126861637 (A698V)	Single nucleotide variant (missense variant)	Acrokeratosis verruciformis of Hopf	GPathogenic
Select item 17799	NM_170665.4(ATP2A2):c.1805C>T (p.Pro602Leu)	ATP2A2, LOC126861637 (P602L)	Single nucleotide variant (missense variant)	not provided	GPathogenic

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Items: 24