ATP2B2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153284	GRCh38/hg38 3p26.3-25.3(chr3:20213-11221602)x1	ARL8B, ARPC4 +286 more	Copy number loss	See cases	GPathogenic
Select item 155106	GRCh38/hg38 3p26.3-25.3(chr3:32241-10631310)x1	ARL8B, ARPC4 +271 more	Copy number loss	See cases	GPathogenic
Select item 150031	GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3	ARL8B, ARPC4 +406 more	Copy number gain	See cases	GPathogenic
Select item 149331	GRCh38/hg38 3p26.3-25.3(chr3:32241-11379835)x1	ARL8B, ARPC4 +291 more	Copy number loss	See cases	GPathogenic
Select item 149085	GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1	ARL8B, ARPC4 +331 more	Copy number loss	See cases	GPathogenic
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 57708	GRCh38/hg38 3p26.3-25.3(chr3:52266-11089569)x1	ARL8B, ARPC4 +281 more	Copy number loss	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 155639	GRCh38/hg38 3p26.3-25.3(chr3:688897-11051142)x1	ARL8B, ARPC4 +274 more	Copy number loss	See cases	GPathogenic
Select item 155699	GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3	ARPC4, ARPC4-TTLL3 +307 more	Copy number gain	See cases	GPathogenic
Select item 148234	GRCh38/hg38 3p26.1-25.2(chr3:7975734-12636917)x3	ARPC4, ARPC4-TTLL3 +190 more	Copy number gain	See cases	GLikely pathogenic
Select item 146336	GRCh38/hg38 3p26.1-25.3(chr3:8038727-11240931)x4	ARPC4, ARPC4-TTLL3 +146 more	Copy number gain	See cases	GLikely pathogenic
Select item 148359	GRCh38/hg38 3p25.3-25.2(chr3:9394874-11690612)x1	ARPC4, ARPC4-TTLL3 +118 more	Copy number loss	See cases	GPathogenic
Select item 148687	GRCh38/hg38 3p25.3(chr3:9875909-10572677)x1	ATP2B2, ATP2B2-IT1 +58 more	Copy number loss	See cases	GPathogenic
Select item 57766	GRCh38/hg38 3p25.3-25.2(chr3:10019780-12251358)x1	ATG7, ATP2B2 +79 more	Copy number loss	See cases	GPathogenic
Select item 155031	GRCh38/hg38 3p25.3(chr3:10220962-11165449)x1	ATP2B2, ATP2B2-IT1 +36 more	Copy number loss	See cases	GUncertain significance
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 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 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 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 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 3368625	NM_001001331.4(ATP2B2):c.3420+2045G>C	ATP2B2 (G1152A)	Single nucleotide variant (missense variant +1 more)	not provided	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 3372566	NM_001001331.4(ATP2B2):c.3420+1997T>C	ATP2B2 (L1136S)	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 3372449	NM_001001331.4(ATP2B2):c.3340GAG[1] (p.Glu1115del)	ATP2B2 (E1070del +1 more)	Microsatellite	not provided	GUncertain significance
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 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 3372184	NM_001001331.4(ATP2B2):c.3082_3096del (p.Arg1028_Phe1032del)	ATP2B2	Deletion	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 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

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