ClinVar for Gene (Select 23094) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3352423	NM_015073.3(SIPA1L3):c.1974C>T (p.Gly658=)	SIPA1L3	Single nucleotide variant (synonymous variant)	SIPA1L3-related disorder	GLikely benign
Select item 3318620	NM_015073.3(SIPA1L3):c.347C>G (p.Ser116Cys)	SIPA1L3 (S116C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318619	NM_015073.3(SIPA1L3):c.998C>T (p.Pro333Leu)	SIPA1L3 (P333L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318618	NM_015073.3(SIPA1L3):c.1303G>A (p.Gly435Arg)	SIPA1L3 (G435R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318617	NM_015073.3(SIPA1L3):c.3899C>T (p.Pro1300Leu)	SIPA1L3 (P1300L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318616	NM_015073.3(SIPA1L3):c.3586G>C (p.Asp1196His)	SIPA1L3 (D1196H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318614	NM_015073.3(SIPA1L3):c.1796G>A (p.Arg599Gln)	SIPA1L3 (R599Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318613	NM_015073.3(SIPA1L3):c.2506A>T (p.Thr836Ser)	SIPA1L3 (T836S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318612	NM_015073.3(SIPA1L3):c.5249G>T (p.Arg1750Leu)	SIPA1L3 (R1750L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318611	NM_015073.3(SIPA1L3):c.4273C>T (p.Arg1425Trp)	SIPA1L3 (R1425W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318610	NM_015073.3(SIPA1L3):c.3425C>T (p.Thr1142Ile)	SIPA1L3 (T1142I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318609	NM_015073.3(SIPA1L3):c.4274G>A (p.Arg1425Gln)	SIPA1L3 (R1425Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318608	NM_015073.3(SIPA1L3):c.4885C>T (p.Arg1629Cys)	SIPA1L3 (R1629C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318607	NM_015073.3(SIPA1L3):c.4355G>A (p.Arg1452His)	SIPA1L3 (R1452H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318606	NM_015073.3(SIPA1L3):c.2281G>A (p.Val761Ile)	SIPA1L3 (V761I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318605	NM_015073.3(SIPA1L3):c.4822G>A (p.Gly1608Ser)	SIPA1L3 (G1608S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318603	NM_015073.3(SIPA1L3):c.3852C>G (p.Asp1284Glu)	SIPA1L3 (D1284E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318602	NM_015073.3(SIPA1L3):c.4042C>T (p.Arg1348Cys)	SIPA1L3 (R1348C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3257457	NM_015073.3(SIPA1L3):c.750C>T (p.Leu250=)	SIPA1L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3162463	NM_015073.3(SIPA1L3):c.919A>C (p.Ser307Arg)	SIPA1L3 (S307R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162462	NM_015073.3(SIPA1L3):c.875G>A (p.Gly292Asp)	SIPA1L3 (G292D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162461	NM_015073.3(SIPA1L3):c.779A>T (p.Asp260Val)	SIPA1L3 (D260V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162460	NM_015073.3(SIPA1L3):c.5293G>A (p.Glu1765Lys)	SIPA1L3 (E1765K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162459	NM_015073.3(SIPA1L3):c.5060T>C (p.Val1687Ala)	SIPA1L3 (V1687A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162458	NM_015073.3(SIPA1L3):c.4807C>T (p.Pro1603Ser)	SIPA1L3 (P1603S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162457	NM_015073.3(SIPA1L3):c.419G>C (p.Arg140Pro)	SIPA1L3 (R140P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162456	NM_015073.3(SIPA1L3):c.4136A>G (p.Lys1379Arg)	SIPA1L3 (K1379R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162455	NM_015073.3(SIPA1L3):c.4133C>T (p.Pro1378Leu)	SIPA1L3 (P1378L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162454	NM_015073.3(SIPA1L3):c.410C>T (p.Ala137Val)	SIPA1L3 (A137V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162453	NM_015073.3(SIPA1L3):c.409G>A (p.Ala137Thr)	SIPA1L3 (A137T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162452	NM_015073.3(SIPA1L3):c.4091C>T (p.Ser1364Phe)	SIPA1L3 (S1364F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162451	NM_015073.3(SIPA1L3):c.407A>G (p.Lys136Arg)	SIPA1L3 (K136R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3162450	NM_015073.3(SIPA1L3):c.3986C>T (p.Pro1329Leu)	SIPA1L3 (P1329L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162449	NM_015073.3(SIPA1L3):c.3692G>C (p.Arg1231Thr)	SIPA1L3 (R1231T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162448	NM_015073.3(SIPA1L3):c.3553C>T (p.Pro1185Ser)	SIPA1L3 (P1185S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162447	NM_015073.3(SIPA1L3):c.3508G>A (p.Val1170Met)	SIPA1L3 (V1170M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162446	NM_015073.3(SIPA1L3):c.3500C>T (p.Ala1167Val)	SIPA1L3 (A1167V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162445	NM_015073.3(SIPA1L3):c.34G>A (p.Val12Met)	SIPA1L3 (V12M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162444	NM_015073.3(SIPA1L3):c.3367C>T (p.Arg1123Trp)	SIPA1L3 (R1123W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162443	NM_015073.3(SIPA1L3):c.328G>A (p.Ala110Thr)	SIPA1L3 (A110T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162442	NM_015073.3(SIPA1L3):c.3262G>A (p.Ala1088Thr)	SIPA1L3 (A1088T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162441	NM_015073.3(SIPA1L3):c.3218G>A (p.Arg1073Gln)	SIPA1L3 (R1073Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162440	NM_015073.3(SIPA1L3):c.3041C>T (p.Ala1014Val)	SIPA1L3 (A1014V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162439	NM_015073.3(SIPA1L3):c.3017G>A (p.Arg1006Gln)	SIPA1L3 (R1006Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162438	NM_015073.3(SIPA1L3):c.2998G>A (p.Gly1000Ser)	SIPA1L3 (G1000S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162437	NM_015073.3(SIPA1L3):c.266A>G (p.Lys89Arg)	SIPA1L3 (K89R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162436	NM_015073.3(SIPA1L3):c.2614G>A (p.Ala872Thr)	SIPA1L3 (A872T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162435	NM_015073.3(SIPA1L3):c.2512A>C (p.Ile838Leu)	SIPA1L3 (I838L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162434	NM_015073.3(SIPA1L3):c.2504A>G (p.Asn835Ser)	SIPA1L3 (N835S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162433	NM_015073.3(SIPA1L3):c.2341C>T (p.Pro781Ser)	SIPA1L3 (P781S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162432	NM_015073.3(SIPA1L3):c.2336C>T (p.Pro779Leu)	SIPA1L3 (P779L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162431	NM_015073.3(SIPA1L3):c.1912G>A (p.Glu638Lys)	SIPA1L3 (E638K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162430	NM_015073.3(SIPA1L3):c.1451G>A (p.Arg484Gln)	SIPA1L3 (R484Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162428	NM_015073.3(SIPA1L3):c.1091A>C (p.Gln364Pro)	SIPA1L3 (Q364P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 3052757	NM_015073.3(SIPA1L3):c.2903C>T (p.Thr968Met)	SIPA1L3 (T968M)	Single nucleotide variant (missense variant)	SIPA1L3-related disorder	GLikely benign
Select item 3050269	NM_015073.3(SIPA1L3):c.4841-9C>G	SIPA1L3	Single nucleotide variant (intron variant)	SIPA1L3-related disorder	GLikely benign
Select item 3047607	NM_015073.3(SIPA1L3):c.2238C>T (p.His746=)	SIPA1L3	Single nucleotide variant (synonymous variant)	SIPA1L3-related disorder	GLikely benign
Select item 3046886	NM_015073.3(SIPA1L3):c.4866G>A (p.Ser1622=)	SIPA1L3	Single nucleotide variant (synonymous variant)	SIPA1L3-related disorder	GLikely benign
Select item 3045608	NM_015073.3(SIPA1L3):c.3255C>T (p.Ser1085=)	SIPA1L3	Single nucleotide variant (synonymous variant)	SIPA1L3-related disorder	GLikely benign
Select item 3045207	NM_015073.3(SIPA1L3):c.3177G>A (p.Ser1059=)	SIPA1L3	Single nucleotide variant (synonymous variant)	SIPA1L3-related disorder	GLikely benign
Select item 3043612	NM_015073.3(SIPA1L3):c.1704G>A (p.Thr568=)	SIPA1L3	Single nucleotide variant (synonymous variant)	SIPA1L3-related disorder	GLikely benign
Select item 3019175	NM_015073.3(SIPA1L3):c.999G>A (p.Pro333=)	SIPA1L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011498	NM_015073.3(SIPA1L3):c.2869-3C>T	SIPA1L3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3005663	NM_015073.3(SIPA1L3):c.749T>A (p.Leu250His)	SIPA1L3 (L250H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972550	NM_015073.3(SIPA1L3):c.2255G>A (p.Arg752Gln)	SIPA1L3 (R752Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2956751	NM_015073.3(SIPA1L3):c.3534-20G>A	SIPA1L3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2916670	NM_015073.3(SIPA1L3):c.2421G>A (p.Ala807=)	SIPA1L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2914801	NM_015073.3(SIPA1L3):c.1199C>T (p.Thr400Ile)	SIPA1L3 (T400I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2913814	NM_015073.3(SIPA1L3):c.4792G>A (p.Gly1598Ser)	SIPA1L3 (G1598S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2908871	NM_015073.3(SIPA1L3):c.4763G>A (p.Arg1588His)	SIPA1L3 (R1588H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2906677	NM_015073.3(SIPA1L3):c.4597-10C>T	SIPA1L3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2901690	NM_015073.3(SIPA1L3):c.2328C>T (p.Phe776=)	SIPA1L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900748	NM_015073.3(SIPA1L3):c.4815C>T (p.Ala1605=)	SIPA1L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899633	NM_015073.3(SIPA1L3):c.4831G>A (p.Glu1611Lys)	SIPA1L3 (E1611K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896633	NM_015073.3(SIPA1L3):c.2892G>A (p.Thr964=)	SIPA1L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890648	NM_015073.3(SIPA1L3):c.4470G>A (p.Pro1490=)	SIPA1L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889654	NM_015073.3(SIPA1L3):c.1081T>C (p.Ser361Pro)	SIPA1L3 (S361P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2882922	NM_015073.3(SIPA1L3):c.366C>T (p.Asn122=)	SIPA1L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2876430	NM_015073.3(SIPA1L3):c.2291+11C>A	SIPA1L3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2854021	NM_015073.3(SIPA1L3):c.2803C>A (p.His935Asn)	SIPA1L3 (H935N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2849213	NM_015073.3(SIPA1L3):c.3928G>A (p.Gly1310Ser)	SIPA1L3 (G1310S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2848628	NM_015073.3(SIPA1L3):c.642C>G (p.Pro214=)	SIPA1L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2802451	NM_015073.3(SIPA1L3):c.4208+9T>C	SIPA1L3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2791552	NM_015073.3(SIPA1L3):c.2202G>C (p.Pro734=)	SIPA1L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2776241	NM_015073.3(SIPA1L3):c.128A>C (p.Asn43Thr)	SIPA1L3 (N43T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2755658	NM_015073.3(SIPA1L3):c.4984+4G>A	SIPA1L3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2755657	NM_015073.3(SIPA1L3):c.4710C>T (p.Asp1570=)	SIPA1L3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2754972	NM_015073.3(SIPA1L3):c.501G>C (p.Arg167=)	SIPA1L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2750757	NM_015073.3(SIPA1L3):c.572G>A (p.Arg191Gln)	SIPA1L3 (R191Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2749614	NM_015073.3(SIPA1L3):c.3650G>A (p.Arg1217His)	SIPA1L3 (R1217H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2747910	NM_015073.3(SIPA1L3):c.216C>A (p.Pro72=)	SIPA1L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2722717	NM_015073.3(SIPA1L3):c.4784C>G (p.Pro1595Arg)	SIPA1L3 (P1595R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2722657	NM_015073.3(SIPA1L3):c.2193C>T (p.Gly731=)	SIPA1L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2721976	NM_015073.3(SIPA1L3):c.5292C>T (p.Ser1764=)	SIPA1L3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2719845	NM_015073.3(SIPA1L3):c.5094G>A (p.Pro1698=)	SIPA1L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2719842	NM_015073.3(SIPA1L3):c.974G>A (p.Arg325Gln)	SIPA1L3 (R325Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2716701	NM_015073.3(SIPA1L3):c.2430C>A (p.Ser810=)	SIPA1L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2713478	NM_015073.3(SIPA1L3):c.4760G>A (p.Arg1587His)	SIPA1L3 (R1587H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2712726	NM_015073.3(SIPA1L3):c.4008G>A (p.Lys1336=)	SIPA1L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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