ClinVar for Gene (Select 57338) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336551	NM_020655.4(JPH3):c.2189T>C (p.Val730Ala)	JPH3 (V730A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287251	NM_020655.4(JPH3):c.2192T>C (p.Met731Thr)	JPH3 (M731T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3287250	NM_020655.4(JPH3):c.4T>A (p.Ser2Thr)	JPH3 (S2T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3287249	NM_020655.4(JPH3):c.34G>A (p.Gly12Arg)	JPH3 (G12R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3287248	NM_020655.4(JPH3):c.1808T>A (p.Leu603Gln)	JPH3 (L603Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3287247	NM_020655.4(JPH3):c.1487A>G (p.Asn496Ser)	JPH3 (N496S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3287245	NM_020655.4(JPH3):c.1339C>G (p.Leu447Val)	JPH3 (L447V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3287244	NM_020655.4(JPH3):c.2017C>T (p.Pro673Ser)	JPH3 (P673S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3287243	NM_020655.4(JPH3):c.1454C>T (p.Ala485Val)	JPH3 (A485V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3287242	NM_020655.4(JPH3):c.1942C>T (p.Arg648Trp)	JPH3 (R648W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3287241	NM_020655.4(JPH3):c.712C>T (p.Arg238Cys)	JPH3 (R238C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3243615	NC_000016.9:g.(?_87636753)_(88808850_?)del	BANP, CA5A +13 more	Deletion	not provided	GUncertain significance
Select item 3243528	NC_000016.9:g.(?_87677844)_(87970056_?)dup	CA5A, JPH3 +2 more	Duplication	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GUncertain significance
Select item 3242307	GRCh37/hg19 16q23.3-24.3(chr16:82865402-90163542)x3	ACSF3, ADAD2 +87 more	Copy number gain	not provided	GPathogenic
Select item 3239619	NM_020655.4(JPH3):c.1597_1599delinsTCC (p.Glu533Ser)	JPH3 (E533S)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 3239551	NM_020655.4(JPH3):c.1316CCT[1] (p.Ser440del)	JPH3 (S440del)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 3112502	NM_020655.4(JPH3):c.986C>T (p.Pro329Leu)	JPH3 (P329L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3112501	NM_020655.4(JPH3):c.959G>A (p.Arg320His)	JPH3 (R320H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3112500	NM_020655.4(JPH3):c.950G>A (p.Ser317Asn)	JPH3 (S317N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3112499	NM_020655.4(JPH3):c.92C>T (p.Thr31Ile)	JPH3 (T31I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112497	NM_020655.4(JPH3):c.841G>T (p.Asp281Tyr)	JPH3 (D281Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3112496	NM_020655.4(JPH3):c.796C>G (p.Leu266Val)	JPH3 (L266V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3112495	NM_020655.4(JPH3):c.743C>T (p.Ala248Val)	JPH3 (A248V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3112494	NM_020655.4(JPH3):c.677G>A (p.Arg226His)	JPH3 (R226H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3112493	NM_020655.4(JPH3):c.625A>G (p.Ser209Gly)	JPH3 (S209G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3112492	NM_020655.4(JPH3):c.571G>A (p.Val191Met)	JPH3 (V191M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3112491	NM_020655.4(JPH3):c.502C>T (p.Arg168Cys)	JPH3 (R168C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3112490	NM_020655.4(JPH3):c.379G>A (p.Gly127Arg)	JPH3 (G127R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112489	NM_020655.4(JPH3):c.329C>T (p.Thr110Ile)	JPH3 (T110I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112488	NM_020655.4(JPH3):c.2235C>A (p.Asn745Lys)	JPH3 (N745K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3112487	NM_020655.4(JPH3):c.2020G>A (p.Ala674Thr)	JPH3 (A674T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3112486	NM_020655.4(JPH3):c.1987G>A (p.Glu663Lys)	JPH3 (E663K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3112484	NM_020655.4(JPH3):c.1898G>C (p.Gly633Ala)	JPH3 (G633A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3112483	NM_020655.4(JPH3):c.1842G>T (p.Glu614Asp)	JPH3 (E614D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3112482	NM_020655.4(JPH3):c.1748C>A (p.Thr583Lys)	JPH3 (T583K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3112481	NM_020655.4(JPH3):c.1738C>A (p.Pro580Thr)	JPH3 (P580T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3112480	NM_020655.4(JPH3):c.1720C>T (p.Arg574Trp)	JPH3 (R574W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3112479	NM_020655.4(JPH3):c.1648G>A (p.Gly550Ser)	JPH3 (G550S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3112478	NM_020655.4(JPH3):c.1538G>A (p.Gly513Glu)	JPH3 (G513E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3112476	NM_020655.4(JPH3):c.1414C>T (p.Pro472Ser)	JPH3 (P472S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3112475	NM_020655.4(JPH3):c.1381T>C (p.Tyr461His)	JPH3 (Y461H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3112474	NM_020655.4(JPH3):c.1175G>A (p.Arg392Gln)	JPH3 (R392Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3112473	NM_020655.4(JPH3):c.1096G>A (p.Ala366Thr)	JPH3 (A366T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3112471	NM_020655.4(JPH3):c.1093C>T (p.Arg365Cys)	JPH3 (R365C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3112470	NM_020655.4(JPH3):c.1078C>T (p.Arg360Cys)	JPH3 (R360C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3112469	NM_020655.4(JPH3):c.104G>A (p.Gly35Asp)	JPH3 (G35D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063739	NM_020655.4(JPH3):c.434G>A (p.Arg145Gln)	JPH3 (R145Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3059953	NM_020655.4(JPH3):c.684G>A (p.Ser228=)	JPH3	Single nucleotide variant (synonymous variant +1 more)	JPH3-related disorder	GBenign
Select item 3059867	NM_020655.4(JPH3):c.768G>A (p.Thr256=)	JPH3	Single nucleotide variant (synonymous variant +1 more)	JPH3-related disorder	GBenign
Select item 3057021	NM_020655.4(JPH3):c.960C>T (p.Arg320=)	JPH3	Single nucleotide variant (synonymous variant +1 more)	JPH3-related disorder	GBenign
Select item 3055226	NM_020655.4(JPH3):c.460G>C (p.Ala154Pro)	JPH3 (A154P)	Single nucleotide variant (missense variant +1 more)	JPH3-related disorder	GLikely benign
Select item 3052698	NM_020655.4(JPH3):c.840C>T (p.Ile280=)	JPH3	Single nucleotide variant (synonymous variant +1 more)	JPH3-related disorder	GLikely benign
Select item 3047367	NM_020655.4(JPH3):c.570C>T (p.Ala190=)	JPH3	Single nucleotide variant (synonymous variant +1 more)	JPH3-related disorder	GLikely benign
Select item 3046536	NM_020655.4(JPH3):c.309C>T (p.Asn103=)	JPH3	Single nucleotide variant (synonymous variant)	JPH3-related disorder	GLikely benign
Select item 3043900	NM_020655.4(JPH3):c.531G>A (p.Leu177=)	JPH3	Single nucleotide variant (synonymous variant +1 more)	JPH3-related disorder	GLikely benign
Select item 3037167	NM_020655.4(JPH3):c.821C>T (p.Ala274Val)	JPH3 (A274V)	Single nucleotide variant (missense variant +1 more)	JPH3-related disorder	GLikely benign
Select item 3035477	NM_020655.4(JPH3):c.1921G>T (p.Asp641Tyr)	JPH3 (D641Y)	Single nucleotide variant (missense variant +1 more)	JPH3-related disorder	GLikely benign
Select item 3035045	NM_020655.4(JPH3):c.426C>T (p.Tyr142=)	JPH3	Single nucleotide variant (synonymous variant +1 more)	JPH3-related disorder	GLikely benign
Select item 3030428	NM_020655.4(JPH3):c.382+635C>T	JPH3	Single nucleotide variant (3 prime UTR variant +1 more)	JPH3-related disorder	GLikely benign
Select item 2685586	GRCh37/hg19 16q24.2(chr16:87661094-87742413)x1	JPH3, KLHDC4	Copy number loss	not provided	GUncertain significance
Select item 2685585	GRCh37/hg19 16q24.1-24.2(chr16:84555718-87910245)x1	C16orf74, C16orf95 +25 more	Copy number loss	not provided	GPathogenic
Select item 2646962	NM_020655.4(JPH3):c.1029C>T (p.Leu343=)	JPH3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2646961	NM_020655.4(JPH3):c.903C>A (p.Gly301=)	JPH3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2646960	NM_020655.4(JPH3):c.855C>T (p.Thr285=)	JPH3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2646959	NM_020655.4(JPH3):c.579C>T (p.Arg193=)	JPH3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2646958	NM_020655.4(JPH3):c.540C>G (p.Asp180Glu)	JPH3 (D180E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2589292	NM_020655.4(JPH3):c.2134G>A (p.Glu712Lys)	JPH3 (E712K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2541583	NM_020655.4(JPH3):c.1678G>C (p.Gly560Arg)	JPH3 (G560R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2532540	NM_020655.4(JPH3):c.1094G>A (p.Arg365His)	JPH3 (R365H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2527961	NM_020655.4(JPH3):c.1634G>A (p.Gly545Asp)	JPH3 (G545D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2503467	Single allele	LOC121587566, LOC121587567 +218 more	Deletion	KBG syndrome	GPathogenic
Select item 2498685	GRCh37/hg19 16q24.1-24.2(chr16:86544176-88110267)x1	BANP, C16orf95 +12 more	Copy number loss	not provided	GPathogenic
Select item 2480773	NM_020655.4(JPH3):c.2070G>T (p.Leu690Phe)	JPH3 (L690F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2474364	NM_020655.4(JPH3):c.551C>T (p.Ala184Val)	JPH3 (A184V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2429071	NM_020655.4(JPH3):c.311G>A (p.Gly104Glu)	JPH3 (G104E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2423762	NC_000016.9:g.(?_87677844)_(88505740_?)dup	BANP, CA5A +4 more	Duplication	not provided	GUncertain significance
Select item 2422362	NC_000016.9:g.(?_87636753)_(90109753_?)dup	DPEP1, DEF8 +45 more	Duplication	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative +2 more	GUncertain significance
Select item 2406335	NM_020655.4(JPH3):c.2062C>T (p.Pro688Ser)	JPH3 (P688S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2397669	NM_020655.4(JPH3):c.1124C>G (p.Thr375Ser)	JPH3 (T375S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2384555	NM_020655.4(JPH3):c.548C>T (p.Pro183Leu)	JPH3 (P183L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2379702	NM_020655.4(JPH3):c.1933C>T (p.Pro645Ser)	JPH3 (P645S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2378470	NM_020655.4(JPH3):c.524C>T (p.Thr175Met)	JPH3 (T175M)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2374762	NM_020655.4(JPH3):c.1903G>A (p.Ala635Thr)	JPH3 (A635T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2360841	NM_020655.4(JPH3):c.1517C>T (p.Ser506Leu)	JPH3 (S506L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2359300	NM_020655.4(JPH3):c.757G>A (p.Val253Ile)	JPH3 (V253I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2334528	NM_020655.4(JPH3):c.1912G>C (p.Gly638Arg)	JPH3 (G638R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2329479	NM_020655.4(JPH3):c.2168G>T (p.Gly723Val)	JPH3 (G723V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2317677	NM_020655.4(JPH3):c.1375G>A (p.Glu459Lys)	JPH3 (E459K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2313394	NM_020655.4(JPH3):c.2162G>T (p.Ser721Ile)	JPH3 (S721I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2306161	NM_020655.4(JPH3):c.1018C>G (p.Gln340Glu)	JPH3 (Q340E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2301934	NM_020655.4(JPH3):c.1277G>A (p.Arg426Gln)	JPH3 (R426Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2283341	NM_020655.4(JPH3):c.1974G>C (p.Lys658Asn)	JPH3 (K658N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2274656	NM_020655.4(JPH3):c.460G>A (p.Ala154Thr)	JPH3 (A154T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2264433	NM_020655.4(JPH3):c.1989G>C (p.Glu663Asp)	JPH3 (E663D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2262624	NM_020655.4(JPH3):c.761G>C (p.Ser254Thr)	JPH3 (S254T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2261876	NM_020655.4(JPH3):c.427G>T (p.Gly143Cys)	JPH3 (G143C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2261672	NM_020655.4(JPH3):c.1872T>G (p.His624Gln)	JPH3 (H624Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2251497	NM_020655.4(JPH3):c.1564C>T (p.Arg522Trp)	JPH3 (R522W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2241622	NM_020655.4(JPH3):c.940G>A (p.Glu314Lys)	JPH3 (E314K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2234047	NM_020655.4(JPH3):c.767C>T (p.Thr256Met)	JPH3 (T256M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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