14179[HGNC] - ClinVar

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Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59410	GRCh38/hg38 16p13.3(chr16:23141-1712523)x1	ANTKMT, ARHGDIG +194 more	Copy number loss	See cases	GPathogenic
Select item 59409	GRCh38/hg38 16p13.3(chr16:23141-1773349)x1	ANTKMT, ARHGDIG +210 more	Copy number loss	See cases	GPathogenic
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	LOC112340388, LOC112441449 +821 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	LOC130058535, LOC130058536 +916 more	Copy number gain	See cases	GPathogenic
Select item 148760	GRCh38/hg38 16p13.3(chr16:46722-1867327)x1	ANTKMT, ARHGDIG +224 more	Copy number loss	See cases	GPathogenic
Select item 148917	GRCh38/hg38 16p13.3(chr16:46766-882211)x1	NHLRC4, NME4 +119 more	Copy number loss	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 145576	GRCh38/hg38 16p13.3(chr16:46766-1544014)x1	ANTKMT, ARHGDIG +179 more	Copy number loss	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	LOC105371046, LOC105371050 +842 more	Copy number gain	See cases	GPathogenic
Select item 59411	GRCh38/hg38 16p13.3(chr16:46766-1997582)x1	ANTKMT, ARHGDIG +253 more	Copy number loss	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 152879	GRCh38/hg38 16p13.3(chr16:59980-1221651)x1	ANTKMT, ARHGDIG +130 more	Copy number loss	See cases	GPathogenic
Select item 59425	GRCh38/hg38 16p13.3(chr16:105429-1499893)x1	ANTKMT, ARHGDIG +164 more	Copy number loss	See cases	GPathogenic
Select item 150513	GRCh38/hg38 16p13.3(chr16:412341-925326)x3	ANTKMT, CAPN15 +76 more	Copy number gain	See cases	GUncertain significance
Select item 151633	GRCh38/hg38 16p13.3(chr16:636673-786508)x3	ANTKMT, CCDC78 +40 more	Copy number gain	See cases	GBenign
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	LOC130058149, LOC130058150 +925 more	Copy number gain	See cases	GPathogenic
Select item 3144883	NM_022493.3(CIAO3):c.1423C>T (p.Arg475Trp)	CIAO3 (R475W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144882	NM_022493.3(CIAO3):c.1409C>G (p.Thr470Ser)	CIAO3 (T470S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2532290	NM_022493.3(CIAO3):c.1402G>A (p.Ala468Thr)	CIAO3 (A366T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479873	NM_022493.3(CIAO3):c.1379C>T (p.Thr460Met)	CIAO3 (T358M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458403	NM_022493.3(CIAO3):c.1355A>G (p.Glu452Gly)	CIAO3 (E350G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790158	NM_022493.3(CIAO3):c.1338G>A (p.Leu446=)	CIAO3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 723437	NM_022493.3(CIAO3):c.1303G>A (p.Ala435Thr)	CIAO3 (A333T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 718886	NM_022493.3(CIAO3):c.1273G>A (p.Gly425Ser)	CIAO3 (G425S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 717459	NM_022493.3(CIAO3):c.1193-9C>T	CIAO3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3144880	NM_022493.3(CIAO3):c.1150C>T (p.Arg384Cys)	CIAO3 (R282C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612367	NM_022493.3(CIAO3):c.1145G>A (p.Arg382Gln)	CIAO3 (R280Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 623435	NM_022493.3(CIAO3):c.1112G>A (p.Arg371His)	CIAO3 (R371H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144894	NM_022493.3(CIAO3):c.979G>A (p.Ala327Thr)	CIAO3 (A225T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144893	NM_022493.3(CIAO3):c.973C>T (p.Arg325Trp)	CIAO3 (R223W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144892	NM_022493.3(CIAO3):c.947C>T (p.Ser316Leu)	CIAO3 (S214L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144891	NM_022493.3(CIAO3):c.934C>T (p.Arg312Trp)	CIAO3 (R210W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596237	NM_022493.3(CIAO3):c.904G>A (p.Gly302Ser)	CIAO3 (G302S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3144890	NM_022493.3(CIAO3):c.811G>A (p.Val271Ile)	CIAO3 (V169I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144889	NM_022493.3(CIAO3):c.779A>G (p.Asn260Ser)	CIAO3 (N260S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3144888	NM_022493.3(CIAO3):c.721G>A (p.Val241Ile)	CIAO3 (V241I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 737200	NM_022493.3(CIAO3):c.693+9G>A	CIAO3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2459987	NM_022493.3(CIAO3):c.667G>C (p.Val223Leu)	CIAO3 (V223L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144887	NM_022493.3(CIAO3):c.638G>A (p.Arg213Gln)	CIAO3 (R213Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460756	NM_022493.3(CIAO3):c.511C>T (p.Arg171Trp)	CIAO3 (R69W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523686	NM_022493.3(CIAO3):c.500G>A (p.Arg167Gln)	CIAO3 (R65Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529921	NM_022493.3(CIAO3):c.379C>T (p.Arg127Trp)	CIAO3 (R127W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 721907	NM_022493.3(CIAO3):c.274G>A (p.Glu92Lys)	CIAO3 (E92K)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3144885	NM_022493.3(CIAO3):c.235A>T (p.Thr79Ser)	CIAO3 (T79S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2457859	NM_022493.3(CIAO3):c.226G>A (p.Gly76Ser)	CIAO3 (G76S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3144884	NM_022493.3(CIAO3):c.208G>A (p.Asp70Asn)	CIAO3 (D70N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2554839	NM_022493.3(CIAO3):c.140G>C (p.Gly47Ala)	CIAO3 (G47A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3144881	NM_022493.3(CIAO3):c.125G>A (p.Arg42His)	CIAO3 (R42H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 714677	NM_022493.3(CIAO3):c.112G>A (p.Val38Met)	CIAO3 (V38M)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 3144886	NM_022493.3(CIAO3):c.58C>G (p.Pro20Ala)	CIAO3 (P20A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2481887	NM_022493.3(CIAO3):c.52A>T (p.Ile18Phe)	CIAO3 (I18F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2534964	NM_022493.3(CIAO3):c.22G>A (p.Ala8Thr)	CIAO3 (A8T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3062036	NM_022493.3(CIAO3):c.3G>T (p.Met1Ile)	CIAO3 (M1I)	Single nucleotide variant (5 prime UTR variant +2 more)	Pulmonary arteriovenous malformation	GUncertain significance
Select item 2685536	GRCh37/hg19 16p13.3(chr16:85881-1657611)x1	PRR35, ANTKMT +65 more	Copy number loss	not provided	GPathogenic
Select item 2426664	NC_000016.9:g.(?_256302)_(1843653_?)del	UNKL, UQCC4 +64 more	Deletion	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 2426265	NC_000016.9:g.(?_256302)_(1918176_?)del	ANTKMT, ARHGDIG +67 more	Deletion	not provided	GUncertain significance
Select item 2425969	NC_000016.9:g.(?_256302)_(1657267_?)del	ANTKMT, ARHGDIG +55 more	Deletion	not provided	GPathogenic
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	PRSS21, PRSS22 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 1808731	GRCh37/hg19 16p13.3(chr16:85881-1350186)x1	ANTKMT, ARHGDIG +53 more	Copy number loss	not provided	GPathogenic
Select item 1808202	GRCh37/hg19 16p13.3(chr16:726789-1066511)x1	ANTKMT, CCDC78 +15 more	Copy number loss	not provided	GUncertain significance
Select item 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 1526481	GRCh37/hg19 16p13.3(chr16:85880-1468828)	ANTKMT, MRPL28 +58 more	Copy number loss	not specified	GPathogenic
Select item 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic
Select item 1047658	NC_000016.9:g.(?_765584)_(1204036_?)del	ANTKMT, C1QTNF8 +13 more	Deletion	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 1017417	NC_000016.9:g.(?_624055)_(2153916_?)dup	EME2, FAHD1 +71 more	Duplication	Epilepsy +2 more	GUncertain significance
Select item 980573	GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	ABCA3, ADCY9 +188 more	Copy number gain	not provided	GPathogenic
Select item 833344	NC_000016.9:g.(?_624055)_(2550979_?)dup	ABCA3, ANTKMT +86 more	Duplication	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 832709	NC_000016.9:g.(?_624055)_(2148005_?)del	ANTKMT, BAIAP3 +71 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 815769	GRCh37/hg19 16p13.3(chr16:364182-1186480)x3	PRR25, LMF1 +33 more	Copy number gain	not provided	GUncertain significance
Select item 815766	GRCh37/hg19 16p13.3(chr16:85880-1166355)x1	SNRNP25, C1QTNF8 +48 more	Copy number loss	not provided	GPathogenic
Select item 688348	GRCh37/hg19 16p13.3(chr16:85880-2053328)x1	ANTKMT, ARHGDIG +89 more	Copy number loss	not provided	GPathogenic
Select item 687431	GRCh37/hg19 16p13.3(chr16:85880-1468459)x1	ANTKMT, ARHGDIG +58 more	Copy number loss	not provided	GPathogenic
Select item 685952	GRCh37/hg19 16p13.3(chr16:85880-830613)x1	ANTKMT, ARHGDIG +40 more	Copy number loss	not provided	GPathogenic
Select item 655214	NC_000016.9:g.(?_624055)_(2115656_?)del	SYNGR3, UQCC4 +69 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 625723	GRCh37/hg19 16p13.3(chr16:109978-4316797)	ABCA3, ADCY9 +159 more	Copy number gain	Chromosome 16p13.3 duplication syndrome	GPathogenic
Select item 564254	GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3	ABAT, ABCA3 +206 more	Copy number gain	not provided	GPathogenic
Select item 564253	GRCh37/hg19 16p13.3(chr16:85880-3216551)x3	ABCA3, AMDHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 564252	GRCh37/hg19 16p13.3(chr16:85880-1875694)x1	PDIA2, POLR3K +75 more	Copy number loss	not provided	GPathogenic
Select item 564251	GRCh37/hg19 16p13.3(chr16:85880-1498731)x1	PGAP6, TSR3 +61 more	Copy number loss	not provided	GPathogenic
Select item 443477	GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3	ABAT, ABCA3 +198 more	Copy number gain	See cases	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 441740	GRCh37/hg19 16p13.3(chr16:643377-3125125)x3	ABCA3, AMDHD2 +111 more	Copy number gain	See cases	GUncertain significance
Select item 395719	GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448)	CLDN6, CLDN9 +196 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	DPEP2, DPEP3 +811 more	Copy number gain	See cases	GPathogenic
Select item 394840	GRCh37/hg19 16p13.3(chr16:97133-5122974)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 253809	GRCh37/hg19 16p13.3(chr16:239130-841725)x3	STUB1, CIAO3 +32 more	Copy number gain	See cases	GUncertain significance
Select item 253755	GRCh37/hg19 16p13.3(chr16:450686-1007236)x3	MSLN, PRR35 +27 more	Copy number gain	See cases	GUncertain significance
Select item 253622	GRCh37/hg19 16p13.3(chr16:72769-1511716)x1	CCDC154, CCDC78 +61 more	Copy number loss	See cases	GPathogenic
Select item 252979	GRCh37/hg19 16p13.3(chr16:88165-1715454)x1	ANTKMT, ARHGDIG +66 more	Copy number loss	See cases	GPathogenic
Select item 221510	GRCh37/hg19 16p13.3(chr16:772433-857560)x3	HAGHL, MSLN +7 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221390	GRCh37/hg19 16p13.3(chr16:97494-1257060)x3	ANTKMT, ARHGDIG +49 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic

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Items: 96