ClinVar for Gene (Select 491) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	BRK1, BRPF1 +29 more	Duplication	not provided	GUncertain significance
Select item 3246936	NC_000003.11:g.(?_9703931)_(11078652_?)del	ARPC4, ARPC4-TTLL3 +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)	ATP2B2-related disorder +1 more	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 (3 prime UTR 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
Select item 2729778	NM_001001331.4(ATP2B2):c.3228T>G (p.Val1076=)	ATP2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2723967	NM_001001331.4(ATP2B2):c.1281G>A (p.Pro427=)	ATP2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2720642	NM_001001331.4(ATP2B2):c.1901A>G (p.Lys634Arg)	ATP2B2 (K634R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2717720	NM_001001331.4(ATP2B2):c.2298C>A (p.Ile766=)	ATP2B2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2715162	NM_001001331.4(ATP2B2):c.1056C>T (p.Asp352=)	ATP2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2712213	NM_001001331.4(ATP2B2):c.1752C>T (p.Tyr584=)	ATP2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2711348	NM_001001331.4(ATP2B2):c.2405-3C>T	ATP2B2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2699727	NM_001001331.4(ATP2B2):c.2316+1G>T	ATP2B2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 2672929	NM_001001331.4(ATP2B2):c.656-3C>T	ATP2B2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2662314	NM_001001331.4(ATP2B2):c.2T>C (p.Met1Thr)	ATP2B2 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2653526	NM_001001331.4(ATP2B2):c.18C>G (p.Asn6Lys)	ATP2B2 (N6K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2653525	NM_001001331.4(ATP2B2):c.182A>G (p.Lys61Arg)	ATP2B2 (K61R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2653524	NM_001001331.4(ATP2B2):c.393C>T (p.Asn131=)	ATP2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653523	NM_001001331.4(ATP2B2):c.407C>T (p.Thr136Met)	ATP2B2 (T136M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2653522	NM_001001331.4(ATP2B2):c.2040C>T (p.Pro680=)	ATP2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653521	NM_001001331.4(ATP2B2):c.2136+5G>T	ATP2B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2636193	NM_001001331.4(ATP2B2):c.1226T>C (p.Val409Ala)	ATP2B2 (V364A +1 more)	Single nucleotide variant (missense variant)	ATP2B2-related disorder	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 2588833	NM_001001331.4(ATP2B2):c.1813G>A (p.Val605Met)	ATP2B2 (V560M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2583007	NM_001001331.4(ATP2B2):c.2385C>G (p.Asp795Glu)	ATP2B2 (D750E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2582656	NM_001001331.4(ATP2B2):c.2501G>A (p.Gly834Asp)	ATP2B2 (G789D +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12	GUncertain significance
Select item 2582182	NM_001001331.4(ATP2B2):c.1613T>A (p.Leu538Gln)	ATP2B2 (L493Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2581956	NM_001001331.4(ATP2B2):c.1035G>C (p.Gln345His)	ATP2B2 (Q345H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2580292	GRCh37/hg19 3p25.3-25.2(chr3:10167260-12533766)x1	ATG7, ATP2B2 +16 more	Copy number loss	See cases	GPathogenic
Select item 2579798	NM_001001331.4(ATP2B2):c.2551A>T (p.Ile851Phe)	ATP2B2 (I806F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576075	NM_001001331.4(ATP2B2):c.1829G>C (p.Ser610Thr)	ATP2B2 (S565T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572672	NM_001001331.4(ATP2B2):c.673G>A (p.Asp225Asn)	ATP2B2 (D225N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2572023	NM_001001331.4(ATP2B2):c.727G>A (p.Gly243Arg)	ATP2B2 (G243R)	Single nucleotide variant (missense variant)	Hearing loss, autosomal dominant 82 +1 more	Gnot provided
Select item 2571174	NM_001001331.4(ATP2B2):c.1890C>A (p.Ile630=)	ATP2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2547535	NM_001001331.4(ATP2B2):c.496C>A (p.Leu166Met)	ATP2B2 (L166M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523714	NM_001001331.4(ATP2B2):c.746G>A (p.Arg249His)	ATP2B2 (R249H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2504763	NM_001001331.4(ATP2B2):c.2246A>C (p.His749Pro)	ATP2B2 (H704P +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 2501840	NM_001001331.4(ATP2B2):c.2336A>G (p.Asp779Gly)	ATP2B2 (D734G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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