ClinVar for Gene (Select 489) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3353143	NM_005173.4(ATP2A3):c.1497G>A (p.Thr499=)	ATP2A3	Single nucleotide variant (synonymous variant)	ATP2A3-related disorder	GLikely benign
Select item 3328689	NM_005173.4(ATP2A3):c.931C>A (p.Leu311Ile)	ATP2A3 (L311I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328679	NM_005173.4(ATP2A3):c.688A>T (p.Thr230Ser)	ATP2A3 (T230S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328668	NM_005173.4(ATP2A3):c.1142A>G (p.Glu381Gly)	ATP2A3 (E381G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328657	NM_005173.4(ATP2A3):c.334G>A (p.Ala112Thr)	ATP2A3 (A112T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328648	NM_005173.4(ATP2A3):c.1322C>T (p.Thr441Met)	ATP2A3 (T441M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328637	NM_005173.4(ATP2A3):c.2029G>A (p.Ala677Thr)	ATP2A3 (A677T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328628	NM_005173.4(ATP2A3):c.733G>C (p.Glu245Gln)	ATP2A3 (E245Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328617	NM_005173.4(ATP2A3):c.2017G>A (p.Ala673Thr)	ATP2A3 (A673T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328596	NM_005173.4(ATP2A3):c.1742G>A (p.Cys581Tyr)	ATP2A3 (C581Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3131526	NM_005173.4(ATP2A3):c.971G>A (p.Arg324Gln)	ATP2A3 (R324Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131525	NM_005173.4(ATP2A3):c.845C>T (p.Pro282Leu)	ATP2A3 (P282L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131524	NM_005173.4(ATP2A3):c.679G>A (p.Gly227Ser)	ATP2A3 (G227S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131523	NM_005173.4(ATP2A3):c.370C>A (p.Pro124Thr)	ATP2A3 (P124T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131522	NM_005173.4(ATP2A3):c.33C>G (p.Asp11Glu)	ATP2A3, LOC130060006 (D11E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131521	NM_005173.4(ATP2A3):c.2956T>C (p.Tyr986His)	ATP2A3, LOC126862465 (Y986H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131520	NM_005173.4(ATP2A3):c.2746G>A (p.Val916Ile)	ATP2A3 (V916I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131519	NM_005173.4(ATP2A3):c.2675A>G (p.Glu892Gly)	ATP2A3 (E892G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131518	NM_005173.4(ATP2A3):c.265G>A (p.Val89Met)	ATP2A3 (V89M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131517	NM_005173.4(ATP2A3):c.2525T>G (p.Val842Gly)	ATP2A3 (V842G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131516	NM_005173.4(ATP2A3):c.2035G>A (p.Val679Met)	ATP2A3 (V679M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131515	NM_005173.4(ATP2A3):c.187C>T (p.Arg63Cys)	ATP2A3 (R63C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131514	NM_005173.4(ATP2A3):c.1805C>T (p.Pro602Leu)	ATP2A3 (P602L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131513	NM_005173.4(ATP2A3):c.1789G>A (p.Val597Ile)	ATP2A3 (V597I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131512	NM_005173.4(ATP2A3):c.1742G>C (p.Cys581Ser)	ATP2A3 (C581S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131511	NM_005173.4(ATP2A3):c.1738G>A (p.Asp580Asn)	ATP2A3 (D580N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3063485	GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	ABR, ALOX15 +116 more	Copy number loss	not specified	GPathogenic
Select item 3060953	NM_005173.4(ATP2A3):c.1272T>G (p.Ala424=)	ATP2A3	Single nucleotide variant (synonymous variant)	ATP2A3-related disorder	GBenign
Select item 3060504	NM_005173.4(ATP2A3):c.1419+10G>A	ATP2A3	Single nucleotide variant (intron variant)	ATP2A3-related disorder	GBenign
Select item 3060281	NM_005173.4(ATP2A3):c.2400C>T (p.Asp800=)	ATP2A3	Single nucleotide variant (synonymous variant)	ATP2A3-related disorder	GBenign
Select item 3060087	NM_005173.4(ATP2A3):c.1518T>C (p.Thr506=)	ATP2A3	Single nucleotide variant (synonymous variant)	ATP2A3-related disorder	GBenign
Select item 3059913	NM_005173.4(ATP2A3):c.15T>C (p.His5=)	ATP2A3, LOC130060006	Single nucleotide variant (synonymous variant)	ATP2A3-related disorder	GBenign
Select item 3059794	NM_005173.4(ATP2A3):c.1707G>C (p.Ala569=)	ATP2A3	Single nucleotide variant (synonymous variant)	ATP2A3-related disorder	GBenign
Select item 3059760	NM_005173.4(ATP2A3):c.1302T>C (p.Tyr434=)	ATP2A3	Single nucleotide variant (synonymous variant)	ATP2A3-related disorder	GBenign
Select item 3059152	NM_005173.4(ATP2A3):c.*14A>G	ATP2A3	Single nucleotide variant (3 prime UTR variant +1 more)	ATP2A3-related disorder	GBenign
Select item 3059069	NM_005173.4(ATP2A3):c.2103T>C (p.Thr701=)	ATP2A3	Single nucleotide variant (synonymous variant)	ATP2A3-related disorder	GBenign
Select item 3057878	NM_005173.4(ATP2A3):c.2529C>T (p.Tyr843=)	ATP2A3	Single nucleotide variant (synonymous variant)	ATP2A3-related disorder	GLikely benign
Select item 3057197	NM_005173.4(ATP2A3):c.870T>C (p.Arg290=)	ATP2A3	Single nucleotide variant (synonymous variant)	ATP2A3-related disorder	GBenign
Select item 3057024	NM_005173.4(ATP2A3):c.2659G>A (p.Asp887Asn)	ATP2A3 (D887N)	Single nucleotide variant (missense variant)	ATP2A3-related disorder	GBenign
Select item 3056302	NM_005173.4(ATP2A3):c.2863-5G>A	ATP2A3, LOC126862465	Single nucleotide variant (intron variant)	ATP2A3-related disorder	GBenign
Select item 3056246	NM_005173.4(ATP2A3):c.2751G>A (p.Ser917=)	ATP2A3	Single nucleotide variant (synonymous variant)	ATP2A3-related disorder	GBenign
Select item 3056092	NM_005173.4(ATP2A3):c.1707G>A (p.Ala569=)	ATP2A3	Single nucleotide variant (synonymous variant)	ATP2A3-related disorder	GLikely benign
Select item 3053847	NM_005173.4(ATP2A3):c.1095+9C>T	ATP2A3	Single nucleotide variant (intron variant)	ATP2A3-related disorder	GLikely benign
Select item 3053259	NM_005173.4(ATP2A3):c.924C>T (p.Pro308=)	ATP2A3	Single nucleotide variant (synonymous variant)	ATP2A3-related disorder	GLikely benign
Select item 3052294	NM_005173.4(ATP2A3):c.1809G>A (p.Pro603=)	ATP2A3	Single nucleotide variant (synonymous variant)	ATP2A3-related disorder	GLikely benign
Select item 3051932	NM_005173.4(ATP2A3):c.1420-4G>A	ATP2A3	Single nucleotide variant (intron variant)	ATP2A3-related disorder	GLikely benign
Select item 3050223	NM_005173.4(ATP2A3):c.1779C>T (p.Phe593=)	ATP2A3	Single nucleotide variant (synonymous variant)	ATP2A3-related disorder	GLikely benign
Select item 3050132	NM_005173.4(ATP2A3):c.993C>T (p.Ala331=)	ATP2A3	Single nucleotide variant (synonymous variant)	ATP2A3-related disorder	GLikely benign
Select item 3050071	NM_005173.4(ATP2A3):c.1155G>C (p.Ser385=)	ATP2A3	Single nucleotide variant (synonymous variant)	ATP2A3-related disorder	GLikely benign
Select item 3049048	NM_005173.4(ATP2A3):c.609C>T (p.Asp203=)	ATP2A3	Single nucleotide variant (synonymous variant)	ATP2A3-related disorder	GLikely benign
Select item 3044635	NM_005173.4(ATP2A3):c.396G>A (p.Ser132=)	ATP2A3	Single nucleotide variant (synonymous variant)	ATP2A3-related disorder	GBenign
Select item 3042789	NM_005173.4(ATP2A3):c.1452C>T (p.Thr484=)	ATP2A3	Single nucleotide variant (synonymous variant)	ATP2A3-related disorder	GBenign
Select item 3042544	NM_005173.4(ATP2A3):c.669C>T (p.Ala223=)	ATP2A3	Single nucleotide variant (synonymous variant)	ATP2A3-related disorder	GLikely benign
Select item 3042177	NM_005173.4(ATP2A3):c.904C>T (p.Leu302=)	ATP2A3	Single nucleotide variant (synonymous variant)	ATP2A3-related disorder	GBenign
Select item 3041730	NM_005173.4(ATP2A3):c.1372G>A (p.Asp458Asn)	ATP2A3 (D458N)	Single nucleotide variant (missense variant)	ATP2A3-related disorder	GBenign
Select item 3041599	NM_005173.4(ATP2A3):c.2352C>T (p.Pro784=)	ATP2A3	Single nucleotide variant (synonymous variant)	ATP2A3-related disorder	GLikely benign
Select item 3041510	NM_005173.4(ATP2A3):c.2674G>A (p.Glu892Lys)	ATP2A3 (E892K)	Single nucleotide variant (missense variant)	ATP2A3-related disorder	GLikely benign
Select item 3040838	NM_005173.4(ATP2A3):c.*19A>G	ATP2A3 (E1036G)	Single nucleotide variant (3 prime UTR variant +1 more)	ATP2A3-related disorder	GBenign
Select item 3039559	NM_005173.4(ATP2A3):c.1371C>T (p.Thr457=)	ATP2A3	Single nucleotide variant (synonymous variant)	ATP2A3-related disorder	GLikely benign
Select item 3039302	NM_005173.4(ATP2A3):c.1896C>T (p.Ala632=)	ATP2A3	Single nucleotide variant (synonymous variant)	ATP2A3-related disorder	GBenign
Select item 3038739	NM_005173.4(ATP2A3):c.498C>T (p.Ile166=)	ATP2A3	Single nucleotide variant (synonymous variant)	ATP2A3-related disorder	GLikely benign
Select item 3038711	NM_005173.4(ATP2A3):c.936G>A (p.Pro312=)	ATP2A3	Single nucleotide variant (synonymous variant)	ATP2A3-related disorder	GLikely benign
Select item 3038059	NM_005173.4(ATP2A3):c.2234C>A (p.Ala745Asp)	ATP2A3 (A745D)	Single nucleotide variant (missense variant)	ATP2A3-related disorder	GLikely benign
Select item 3037517	NM_005173.4(ATP2A3):c.1277A>G (p.Asp426Gly)	ATP2A3 (D426G)	Single nucleotide variant (missense variant)	ATP2A3-related disorder	GLikely benign
Select item 3035339	NM_005173.4(ATP2A3):c.2021G>A (p.Arg674His)	ATP2A3 (R674H)	Single nucleotide variant (missense variant)	ATP2A3-related disorder	GBenign
Select item 3034221	NM_005173.4(ATP2A3):c.1317G>A (p.Glu439=)	ATP2A3	Single nucleotide variant (synonymous variant)	ATP2A3-related disorder	GLikely benign
Select item 3033499	NM_005173.4(ATP2A3):c.2748C>T (p.Val916=)	ATP2A3	Single nucleotide variant (synonymous variant)	ATP2A3-related disorder	GLikely benign
Select item 3033358	NM_005173.4(ATP2A3):c.258C>T (p.Thr86=)	ATP2A3	Single nucleotide variant (synonymous variant)	ATP2A3-related disorder	GLikely benign
Select item 2671597	Single allele	ABR, ALOX15 +80 more	Deletion	not provided	GPathogenic
Select item 2647244	NM_005173.4(ATP2A3):c.301A>G (p.Asn101Asp)	ATP2A3 (N101D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2647243	NM_005173.4(ATP2A3):c.2229C>T (p.Ile743=)	ATP2A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2614786	NM_005173.4(ATP2A3):c.2261A>G (p.Tyr754Cys)	ATP2A3 (Y754C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597655	NM_005173.4(ATP2A3):c.1586G>A (p.Arg529His)	ATP2A3 (R529H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589898	NM_005173.4(ATP2A3):c.2057G>A (p.Arg686His)	ATP2A3 (R686H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 2544866	NM_005173.4(ATP2A3):c.1706C>T (p.Ala569Val)	ATP2A3 (A569V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2543200	NM_005173.4(ATP2A3):c.77C>T (p.Pro26Leu)	ATP2A3, LOC130060006 (P26L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542995	NM_005173.4(ATP2A3):c.2720T>C (p.Ile907Thr)	ATP2A3 (I907T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538411	NM_005173.4(ATP2A3):c.990C>G (p.Asn330Lys)	ATP2A3 (N330K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528453	NM_005173.4(ATP2A3):c.716T>C (p.Met239Thr)	ATP2A3 (M239T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527868	NM_005173.4(ATP2A3):c.2632G>A (p.Glu878Lys)	ATP2A3 (E878K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515970	NM_005173.4(ATP2A3):c.1439G>A (p.Arg480Gln)	ATP2A3 (R480Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493125	NM_005173.4(ATP2A3):c.317T>A (p.Val106Glu)	ATP2A3 (V106E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491370	NM_005173.4(ATP2A3):c.580A>G (p.Ile194Val)	ATP2A3 (I194V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482326	NM_005173.4(ATP2A3):c.2737C>T (p.Leu913Phe)	ATP2A3 (L913F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469101	NM_005173.4(ATP2A3):c.1400G>A (p.Arg467Gln)	ATP2A3 (R467Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465793	NM_005173.4(ATP2A3):c.1705G>A (p.Ala569Thr)	ATP2A3 (A569T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464197	NM_005173.4(ATP2A3):c.1606C>T (p.Pro536Ser)	ATP2A3 (P536S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463415	NM_005173.4(ATP2A3):c.1169C>A (p.Thr390Asn)	ATP2A3 (T390N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457765	NM_005173.4(ATP2A3):c.329G>A (p.Arg110His)	ATP2A3 (R110H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404272	NM_005173.4(ATP2A3):c.1990G>C (p.Glu664Gln)	ATP2A3 (E664Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395824	NM_005173.4(ATP2A3):c.2750C>T (p.Ser917Leu)	ATP2A3 (S917L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349448	NM_005173.4(ATP2A3):c.2668G>A (p.Val890Met)	ATP2A3 (V890M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340904	NM_005173.4(ATP2A3):c.2470C>T (p.Pro824Ser)	ATP2A3 (P824S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334400	NM_005173.4(ATP2A3):c.553G>A (p.Val185Met)	ATP2A3 (V185M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329656	NM_005173.4(ATP2A3):c.2473C>G (p.Arg825Gly)	ATP2A3 (R825G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327762	NM_005173.4(ATP2A3):c.2642C>T (p.Pro881Leu)	ATP2A3 (P881L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327719	NM_005173.4(ATP2A3):c.421C>T (p.Arg141Cys)	ATP2A3 (R141C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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