ATP2B2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1279072	NM_001001331.4(ATP2B2):c.*12C>G	ATP2B2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
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 994486	NM_001001331.4(ATP2B2):c.3723G>A (p.Thr1241=)	ATP2B2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1560867	NM_001001331.4(ATP2B2):c.3708C>A (p.Ile1236=)	ATP2B2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1632321	NM_001001331.4(ATP2B2):c.3654C>T (p.Asn1218=)	ATP2B2	Single nucleotide variant (synonymous variant +1 more)	not provided	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 1575049	NM_001001331.4(ATP2B2):c.3609G>A (p.Pro1203=)	ATP2B2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2169792	NM_001001331.4(ATP2B2):c.3606G>A (p.Pro1202=)	ATP2B2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2572199	NM_001001331.4(ATP2B2):c.3599C>T (p.Ser1200Leu)	ATP2B2 (S1155L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2417627	NM_001001331.4(ATP2B2):c.3584C>T (p.Ala1195Val)	ATP2B2 (A1150V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1531890	NM_001001331.4(ATP2B2):c.3583G>A (p.Ala1195Thr)	ATP2B2 (A1150T +1 more)	Single nucleotide variant (missense variant +1 more)	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 2120257	NM_001001331.4(ATP2B2):c.3563C>G (p.Thr1188Ser)	ATP2B2 (T1188S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1976291	NM_001001331.4(ATP2B2):c.3521G>A (p.Arg1174Gln)	ATP2B2 (R1129Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2621648	NM_001001331.4(ATP2B2):c.3472C>G (p.Pro1158Ala)	ATP2B2 (P1158A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2136025	NM_001001331.4(ATP2B2):c.3455_3456del (p.Leu1151_Tyr1152insTer)	ATP2B2	Deletion (nonsense +1 more)	not provided	GUncertain significance
Select item 1590652	NM_001001331.4(ATP2B2):c.3438G>A (p.Ala1146=)	ATP2B2 (V1159I)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 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 1233111	NM_001001331.4(ATP2B2):c.3421-2698T>C	ATP2B2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280786	NM_001001331.4(ATP2B2):c.3420+2210G>A	ATP2B2	Single nucleotide variant (intron variant)	not provided	GBenign
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 1308877	NM_001001331.4(ATP2B2):c.3420+1998G>T	ATP2B2 (L1136F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1277323	NM_001001331.4(ATP2B2):c.3420+257A>G	ATP2B2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262156	NM_001001331.4(ATP2B2):c.3420+237T>C	ATP2B2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1314040	NM_001001331.4(ATP2B2):c.3407G>A (p.Arg1136Gln)	ATP2B2 (R1091Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1339597	NM_001001331.4(ATP2B2):c.3394C>T (p.Arg1132Ter)	ATP2B2 (R1087* +1 more)	Single nucleotide variant (nonsense)	Epileptic encephalopathy +1 more	GLikely pathogenic
Select item 1304447	NM_001001331.4(ATP2B2):c.3362G>C (p.Arg1121Pro)	ATP2B2 (R1076P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806685	NM_001001331.4(ATP2B2):c.3361C>G (p.Arg1121Gly)	ATP2B2 (R1076G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303362	NM_001001331.4(ATP2B2):c.3355_3357delinsACA (p.Ala1119Thr)	ATP2B2 (A1074T +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 1273978	NM_001001331.4(ATP2B2):c.3357G>A (p.Ala1119=)	ATP2B2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 710915	NM_001001331.4(ATP2B2):c.3354C>T (p.His1118=)	ATP2B2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1918196	NM_001001331.4(ATP2B2):c.3337G>A (p.Val1113Met)	ATP2B2 (V1068M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1557079	NM_001001331.4(ATP2B2):c.3336C>T (p.Asp1112=)	ATP2B2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1975944	NM_001001331.4(ATP2B2):c.3331G>A (p.Glu1111Lys)	ATP2B2 (E1066K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 785031	NM_001001331.4(ATP2B2):c.3330C>T (p.Asn1110=)	ATP2B2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2170173	NM_001001331.4(ATP2B2):c.3329A>G (p.Asn1110Ser)	ATP2B2 (N1065S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 787779	NM_001001331.4(ATP2B2):c.3270G>A (p.Lys1090=)	ATP2B2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3336824	NM_001001331.4(ATP2B2):c.3259del (p.Ser1087fs)	ATP2B2 (S1042fs +1 more)	Deletion (frameshift variant)	Epileptic encephalopathy	GPathogenic
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 2779149	NM_001001331.4(ATP2B2):c.3238-14A>C	ATP2B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233004	NM_001001331.4(ATP2B2):c.3238-167A>G	ATP2B2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227808	NM_001001331.4(ATP2B2):c.3238-275_3238-274del	ATP2B2	Deletion (intron variant)	not provided	GBenign
Select item 1179981	NM_001001331.4(ATP2B2):c.3237+142T>C	ATP2B2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2729778	NM_001001331.4(ATP2B2):c.3228T>G (p.Val1076=)	ATP2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2047572	NM_001001331.4(ATP2B2):c.3226G>A (p.Val1076Ile)	ATP2B2 (V1076I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2117963	NM_001001331.4(ATP2B2):c.3176T>C (p.Leu1059Pro)	ATP2B2 (L1014P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1469855	NM_001001331.4(ATP2B2):c.3157C>T (p.Pro1053Ser)	ATP2B2 (P1008S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2087389	NM_001001331.4(ATP2B2):c.3130-14C>T	ATP2B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268502	NM_001001331.4(ATP2B2):c.3129+66A>G	ATP2B2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285807	NM_001001331.4(ATP2B2):c.3129+29C>T	ATP2B2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1541618	NM_001001331.4(ATP2B2):c.3129+8G>C	ATP2B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2183204	NM_001001331.4(ATP2B2):c.3073G>A (p.Gly1025Ser)	ATP2B2 (G1025S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1422934	NM_001001331.4(ATP2B2):c.3059G>T (p.Arg1020Leu)	ATP2B2 (R975L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1360768	NM_001001331.4(ATP2B2):c.3058dup (p.Arg1020fs)	ATP2B2 (R1020fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3022576	NM_001001331.4(ATP2B2):c.3051C>T (p.His1017=)	ATP2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1357397	NM_001001331.4(ATP2B2):c.3046A>G (p.Ile1016Val)	ATP2B2 (I1016V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504487	NM_001001331.4(ATP2B2):c.3040C>T (p.Arg1014Cys)	ATP2B2 (R1014C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1554001	NM_001001331.4(ATP2B2):c.3027C>T (p.Asn1009=)	ATP2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 780375	NM_001001331.4(ATP2B2):c.3018G>A (p.Gln1006=)	ATP2B2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2662303	NM_001001331.4(ATP2B2):c.3017A>G (p.Gln1006Arg)	ATP2B2 (Q1006R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 785032	NM_001001331.4(ATP2B2):c.2967G>A (p.Ser989=)	ATP2B2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1510104	NM_001001331.4(ATP2B2):c.2953G>A (p.Ala985Thr)	ATP2B2 (A940T +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2175234	NM_001001331.4(ATP2B2):c.2937C>T (p.Ile979=)	ATP2B2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2006763	NM_001001331.4(ATP2B2):c.2920G>T (p.Glu974Ter)	ATP2B2 (E974* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1917477	NM_001001331.4(ATP2B2):c.2918-12C>T	ATP2B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182858	NM_001001331.4(ATP2B2):c.2918-149A>C	ATP2B2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264986	NM_001001331.4(ATP2B2):c.2918-250T>C	ATP2B2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1576045	NM_001001331.4(ATP2B2):c.2917+11C>T	ATP2B2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2068706	NM_001001331.4(ATP2B2):c.2917+6C>T	ATP2B2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1442797	NM_001001331.4(ATP2B2):c.2917+3G>C	ATP2B2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1706289	NM_001001331.4(ATP2B2):c.2896A>T (p.Ile966Phe)	ATP2B2 (I921F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 745074	NM_001001331.4(ATP2B2):c.2835G>A (p.Pro945=)	ATP2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2289439	NM_001001331.4(ATP2B2):c.2834C>T (p.Pro945Leu)	ATP2B2 (P945L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239919	NM_001001331.4(ATP2B2):c.2824C>T (p.Arg942Cys)	ATP2B2 (R897C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1575735	NM_001001331.4(ATP2B2):c.2820C>T (p.Tyr940=)	ATP2B2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1623217	NM_001001331.4(ATP2B2):c.2817G>A (p.Pro939=)	ATP2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1695544	NM_001001331.4(ATP2B2):c.2816C>T (p.Pro939Leu)	ATP2B2 (P894L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2245485	NM_001001331.4(ATP2B2):c.2813A>G (p.Lys938Arg)	ATP2B2 (K938R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1800999	NM_001001331.4(ATP2B2):c.2797A>T (p.Thr933Ser)	ATP2B2 (T888S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2366772	NM_001001331.4(ATP2B2):c.2792C>T (p.Thr931Met)	ATP2B2 (T931M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 377533	NM_001001331.4(ATP2B2):c.2765C>T (p.Ser922Leu)	ATP2B2 (S877L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2018216	NM_001001331.4(ATP2B2):c.2726_2729dup (p.Met910fs)	ATP2B2 (M865fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1505562	NM_001001331.4(ATP2B2):c.2711C>G (p.Pro904Arg)	ATP2B2 (P859R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2414928	NM_001001331.4(ATP2B2):c.2704-6C>A	ATP2B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1586055	NM_001001331.4(ATP2B2):c.2704-9C>T	ATP2B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253262	NM_001001331.4(ATP2B2):c.2703+271G>A	ATP2B2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1664194	NM_001001331.4(ATP2B2):c.2703+8_2703+10dup	ATP2B2	Duplication (intron variant)	not provided	GLikely benign
Select item 1247918	NM_001001331.4(ATP2B2):c.2703+9G>T	ATP2B2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1534955	NM_001001331.4(ATP2B2):c.2703+8C>T	ATP2B2	Single nucleotide variant (intron variant)	not provided	GBenign
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 2905515	NM_001001331.4(ATP2B2):c.2688C>T (p.Gly896=)	ATP2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1878848	NM_001001331.4(ATP2B2):c.2684C>A (p.Thr895Lys)	ATP2B2 (T850K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1404583	NM_001001331.4(ATP2B2):c.2667C>A (p.Ala889=)	ATP2B2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1706378	NM_001001331.4(ATP2B2):c.2662G>A (p.Val888Met)	ATP2B2 (V843M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1472693	NM_001001331.4(ATP2B2):c.2659G>A (p.Val887Met)	ATP2B2 (V842M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2068483	NM_001001331.4(ATP2B2):c.2658C>T (p.Asn886=)	ATP2B2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1310703	NM_001001331.4(ATP2B2):c.2658C>G (p.Asn886Lys)	ATP2B2 (N841K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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