ClinVar for Gene (Select 491) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3375844	NM_001001331.4(ATP2B2):c.910G>T (p.Val304Leu)	ATP2B2 (V304L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3375725	NM_001001331.4(ATP2B2):c.806G>C (p.Gly269Ala)	ATP2B2 (G269A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373453	NM_001001331.4(ATP2B2):c.2594T>A (p.Val865Glu)	ATP2B2 (V820E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373429	NM_001001331.4(ATP2B2):c.3722C>T (p.Thr1241Met)	ATP2B2 (T1196M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3373234	NM_001001331.4(ATP2B2):c.617C>A (p.Ala206Asp)	ATP2B2 (A206D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372950	NM_001001331.4(ATP2B2):c.2606G>A (p.Arg869His)	ATP2B2 (R824H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372566	NM_001001331.4(ATP2B2):c.3420+1997T>C	ATP2B2 (L1136S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3372449	NM_001001331.4(ATP2B2):c.3340GAG[1] (p.Glu1115del)	ATP2B2 (E1070del +1 more)	Microsatellite	not provided	GUncertain significance
Select item 3372340	NM_001001331.4(ATP2B2):c.3430G>T (p.Val1144Leu)	ATP2B2 (R1156L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3372184	NM_001001331.4(ATP2B2):c.3082_3096del (p.Arg1028_Phe1032del)	ATP2B2	Deletion	not provided	GUncertain significance
Select item 3370801	NM_001001331.4(ATP2B2):c.2556C>G (p.Ile852Met)	ATP2B2 (I807M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370660	NM_001001331.4(ATP2B2):c.303G>C (p.Glu101Asp)	ATP2B2 (E101D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368625	NM_001001331.4(ATP2B2):c.3420+2045G>C	ATP2B2 (G1152A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3368571	NM_001001331.4(ATP2B2):c.571_572delinsGT (p.Lys191Val)	ATP2B2 (K191V)	Indel (missense variant)	not provided	GUncertain significance
Select item 3368341	NM_001001331.4(ATP2B2):c.830G>T (p.Gly277Val)	ATP2B2 (G277V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367540	NM_001001331.4(ATP2B2):c.3113G>A (p.Gly1038Asp)	ATP2B2 (G1038D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367418	NM_001001331.4(ATP2B2):c.2093C>T (p.Thr698Ile)	ATP2B2 (T653I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366952	NM_001001331.4(ATP2B2):c.1043-2A>G	ATP2B2	Single nucleotide variant (splice acceptor variant)	Hearing loss, autosomal dominant 82	GPathogenic
Select item 3365002	NM_001001331.4(ATP2B2):c.1901A>T (p.Lys634Met)	ATP2B2 (K589M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361084	NM_001001331.4(ATP2B2):c.80C>A (p.Thr27Lys)	ATP2B2 (T27K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361059	NM_001001331.4(ATP2B2):c.2008C>T (p.Arg670Cys)	ATP2B2 (R625C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361013	NM_001001331.4(ATP2B2):c.3361C>T (p.Arg1121Trp)	ATP2B2 (R1076W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359680	NM_001001331.4(ATP2B2):c.3137T>C (p.Ile1046Thr)	ATP2B2 (I1001T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3356095	NM_001001331.4(ATP2B2):c.1816C>T (p.Arg606Cys)	ATP2B2 (R561C +1 more)	Single nucleotide variant (missense variant)	ATP2B2-related disorder	GUncertain significance
Select item 3353213	NM_001001331.4(ATP2B2):c.1901+7G>A	ATP2B2	Single nucleotide variant (intron variant)	ATP2B2-related disorder	GLikely benign
Select item 3351992	NM_001001331.4(ATP2B2):c.*2T>C	ATP2B2	Single nucleotide variant (3 prime UTR variant)	ATP2B2-related disorder	GLikely benign
Select item 3345896	NM_001001331.4(ATP2B2):c.294C>T (p.Leu98=)	ATP2B2	Single nucleotide variant (synonymous variant)	ATP2B2-related disorder	GLikely benign
Select item 3345628	NM_001001331.4(ATP2B2):c.1817_1843dup (p.Lys614_Leu615insArgLysSerMetSerThrValIleLys)	ATP2B2	Duplication (inframe_insertion)	ATP2B2-related disorder	GUncertain significance
Select item 3342983	NM_001001331.4(ATP2B2):c.2426C>T (p.Thr809Ile)	ATP2B2 (T764I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338500	NM_001001331.4(ATP2B2):c.2543C>A (p.Ala848Asp)	ATP2B2 (A803D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338449	GRCh37/hg19 3p25.3(chr3:9974258-11078781)x1	ATP2B2, BRK1 +14 more	Copy number loss	Myoclonic-atonic epilepsy	GLikely pathogenic
Select item 3336824	NM_001001331.4(ATP2B2):c.3259del (p.Ser1087fs)	ATP2B2 (S1042fs +1 more)	Deletion (frameshift variant)	Epileptic encephalopathy	GPathogenic
Select item 3328758	NM_001001331.4(ATP2B2):c.1309G>A (p.Val437Met)	ATP2B2 (V437M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3257230	NM_001001331.4(ATP2B2):c.781+8T>G	ATP2B2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3253238	NM_001001331.4(ATP2B2):c.1678G>A (p.Ala560Thr)	ATP2B2 (A515T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252592	NM_001001331.4(ATP2B2):c.1397C>G (p.Ser466Trp)	ATP2B2 (S421W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3250383	NM_001001331.4(ATP2B2):c.3430G>A (p.Val1144Met)	ATP2B2 (R1156H +2 more)	Single nucleotide variant (missense variant +1 more)	Hearing loss, autosomal dominant 82	GLikely pathogenic
Select item 3246977	NC_000003.11:g.(?_10417094)_(10417348_?)dup	ATP2B2	Duplication	not provided	GLikely pathogenic
Select item 3246976	NC_000003.11:g.(?_10443755)_(10444052_?)del	ATP2B2	Deletion	not provided	GUncertain significance
Select item 3246963	NC_000003.11:g.(?_9470623)_(11078652_?)dup	ARPC4, ARPC4-TTLL3 +29 more	Duplication	not provided	GUncertain significance
Select item 3246936	NC_000003.11:g.(?_9703931)_(11078652_?)del	GHRLOS, IL17RC +27 more	Deletion	Myoclonic-atonic epilepsy	GPathogenic
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3131541	NM_001001331.4(ATP2B2):c.91C>T (p.Leu31Phe)	ATP2B2 (L31F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131540	NM_001001331.4(ATP2B2):c.3425G>A (p.Arg1142His)	ATP2B2 (R1142H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3131539	NM_001001331.4(ATP2B2):c.1864A>G (p.Met622Val)	ATP2B2 (M577V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131538	NM_001001331.4(ATP2B2):c.1852G>A (p.Glu618Lys)	ATP2B2 (E573K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131537	NM_001001331.4(ATP2B2):c.1595C>G (p.Thr532Ser)	ATP2B2 (T487S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067646	NM_001001331.4(ATP2B2):c.2515del (p.Ile839fs)	ATP2B2 (I794fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 3062673	GRCh37/hg19 3p26.1-25.3(chr3:6306331-11468530)x1	ARPC4, ARPC4-TTLL3 +40 more	Copy number loss	not specified	GPathogenic
Select item 3056849	NM_001001331.4(ATP2B2):c.3420+2048G>A	ATP2B2	Single nucleotide variant (intron variant +1 more)	ATP2B2-related disorder	GUncertain significance
Select item 3053241	NM_001001331.4(ATP2B2):c.2505C>T (p.Phe835=)	ATP2B2	Single nucleotide variant (synonymous variant)	ATP2B2-related disorder	GLikely benign
Select item 3044236	NM_001001331.4(ATP2B2):c.1856G>A (p.Ser619Asn)	ATP2B2 (S574N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044227	NM_001001331.4(ATP2B2):c.2472C>T (p.Asp824=)	ATP2B2	Single nucleotide variant (synonymous variant)	ATP2B2-related disorder	GLikely benign
Select item 3038138	NM_001001331.4(ATP2B2):c.3639C>T (p.Ile1213=)	ATP2B2	Single nucleotide variant (synonymous variant +1 more)	ATP2B2-related disorder	GLikely benign
Select item 3033551	NM_001001331.4(ATP2B2):c.954G>A (p.Ala318=)	ATP2B2	Single nucleotide variant (synonymous variant +1 more)	ATP2B2-related disorder	GBenign
Select item 3030698	NM_001001331.4(ATP2B2):c.3255G>A (p.Pro1085=)	ATP2B2	Single nucleotide variant (synonymous variant)	ATP2B2-related disorder	GLikely benign
Select item 3022576	NM_001001331.4(ATP2B2):c.3051C>T (p.His1017=)	ATP2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020901	NM_001001331.4(ATP2B2):c.2404+20G>A	ATP2B2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3019598	NM_001001331.4(ATP2B2):c.2511+6A>G	ATP2B2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3013119	NM_001001331.4(ATP2B2):c.421G>A (p.Ala141Thr)	ATP2B2 (A141T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004267	NM_001001331.4(ATP2B2):c.95G>A (p.Arg32His)	ATP2B2 (R32H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997278	NM_001001331.4(ATP2B2):c.543C>T (p.Gly181=)	ATP2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983732	NM_001001331.4(ATP2B2):c.1687C>T (p.Arg563Trp)	ATP2B2 (R563W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982868	NM_001001331.4(ATP2B2):c.3083G>A (p.Arg1028Gln)	ATP2B2 (R983Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976958	NM_001001331.4(ATP2B2):c.896_899del (p.Lys299fs)	ATP2B2 (K299fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2974560	NM_001001331.4(ATP2B2):c.3585G>A (p.Ala1195=)	ATP2B2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2968914	NM_001001331.4(ATP2B2):c.656-17del	ATP2B2	Deletion (intron variant)	not provided	GLikely benign
Select item 2968863	NM_001001331.4(ATP2B2):c.1758C>T (p.Pro586=)	ATP2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967465	NM_001001331.4(ATP2B2):c.1953C>T (p.Arg651=)	ATP2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965203	NM_001001331.4(ATP2B2):c.2049G>A (p.Pro683=)	ATP2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961437	NM_001001331.4(ATP2B2):c.1080G>A (p.Gln360=)	ATP2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957711	NM_001001331.4(ATP2B2):c.394G>A (p.Glu132Lys)	ATP2B2 (E132K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957280	NM_001001331.4(ATP2B2):c.2512-17del	ATP2B2	Deletion (intron variant)	not provided	GBenign
Select item 2919571	NM_001001331.4(ATP2B2):c.468C>T (p.Ala156=)	ATP2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2918013	NM_001001331.4(ATP2B2):c.2165G>A (p.Arg722Gln)	ATP2B2 (R677Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2911169	NM_001001331.4(ATP2B2):c.558C>T (p.Ile186=)	ATP2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906634	NM_001001331.4(ATP2B2):c.3582C>T (p.Ala1194=)	ATP2B2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2905515	NM_001001331.4(ATP2B2):c.2688C>T (p.Gly896=)	ATP2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903347	NM_001001331.4(ATP2B2):c.1342G>A (p.Val448Met)	ATP2B2 (V448M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2897855	NM_001001331.4(ATP2B2):c.2689G>A (p.Ala897Thr)	ATP2B2 (A897T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2893723	NM_001001331.4(ATP2B2):c.1410G>A (p.Ser470=)	ATP2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892427	NM_001001331.4(ATP2B2):c.870G>A (p.Gly290=)	ATP2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890778	NM_001001331.4(ATP2B2):c.94C>T (p.Arg32Cys)	ATP2B2 (R32C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2887358	NM_001001331.4(ATP2B2):c.207G>A (p.Pro69=)	ATP2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2882915	NM_001001331.4(ATP2B2):c.2020G>A (p.Val674Met)	ATP2B2 (V629M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874906	NM_001001331.4(ATP2B2):c.2584G>A (p.Val862Ile)	ATP2B2 (V817I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2873094	NM_001001331.4(ATP2B2):c.130G>C (p.Val44Leu)	ATP2B2 (V44L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2847752	NM_001001331.4(ATP2B2):c.2496C>T (p.Asp832=)	ATP2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2844808	NM_001001331.4(ATP2B2):c.178del (p.Leu60fs)	ATP2B2 (L60fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2836858	NM_001001331.4(ATP2B2):c.1123A>T (p.Lys375Ter)	ATP2B2 (K330* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2824387	NM_001001331.4(ATP2B2):c.1779G>A (p.Glu593=)	ATP2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2816938	NM_001001331.4(ATP2B2):c.1989del (p.Met664fs)	ATP2B2 (M619fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2815409	NM_001001331.4(ATP2B2):c.1555_1578del (p.Val519_Asp526del)	ATP2B2	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2810080	NM_001001331.4(ATP2B2):c.2128C>T (p.Arg710Trp)	ATP2B2 (R710W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2779149	NM_001001331.4(ATP2B2):c.3238-14A>C	ATP2B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2752439	NM_001001331.4(ATP2B2):c.2382G>A (p.Thr794=)	ATP2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2745967	NM_001001331.4(ATP2B2):c.2216G>C (p.Arg739Pro)	ATP2B2 (R739P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2743146	NM_001001331.4(ATP2B2):c.12G>C (p.Met4Ile)	ATP2B2 (M4I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2742685	NM_001001331.4(ATP2B2):c.176G>T (p.Arg59Leu)	ATP2B2 (R59L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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