2754[HGNC] - ClinVar - NCBI

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	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	ABAT, ABCA3 +822 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 155642	GRCh38/hg38 16p13.3(chr16:35880-605262)x1	ARHGDIG, AXIN1 +59 more	Copy number loss	See cases	GUncertain significance
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 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	ABAT, ABCA3 +843 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 58598	GRCh38/hg38 16p13.3(chr16:239680-589745)x3	ARHGDIG, AXIN1 +34 more	Copy number gain	See cases	GPathogenic
Select item 2463043	NM_020664.4(DECR2):c.22G>A (p.Val8Met)	DECR2 (V8M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211413	NM_020664.4(DECR2):c.23T>G (p.Val8Gly)	DECR2 (V8G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253213	NM_020664.4(DECR2):c.29G>C (p.Gly10Ala)	DECR2 (G10A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357610	NM_020664.4(DECR2):c.32A>G (p.Asp11Gly)	DECR2 (D11G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240233	NM_020664.4(DECR2):c.47C>T (p.Ala16Val)	DECR2 (A16V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404558	NM_020664.4(DECR2):c.109G>A (p.Gly37Ser)	DECR2 (G37S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492222	NM_020664.4(DECR2):c.127C>T (p.Arg43Trp)	DECR2 (R43W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271428	NM_020664.4(DECR2):c.188C>T (p.Pro63Leu)	DECR2 (P63L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600150	NM_020664.4(DECR2):c.232C>T (p.Arg78Trp)	DECR2 (R78W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081237	NM_020664.4(DECR2):c.235C>T (p.Arg79Cys)	DECR2 (R79C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081238	NM_020664.4(DECR2):c.256G>A (p.Asp86Asn)	DECR2 (D86N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220960	NM_020664.4(DECR2):c.286G>A (p.Ala96Thr)	DECR2 (A96T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589576	NM_020664.4(DECR2):c.322G>A (p.Asp108Asn)	DECR2 (D108N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271427	NM_020664.4(DECR2):c.370G>A (p.Ala124Thr)	DECR2 (A124T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340715	NM_020664.4(DECR2):c.409G>T (p.Asp137Tyr)	DECR2 (D137Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081239	NM_020664.4(DECR2):c.429T>A (p.Asn143Lys)	DECR2 (N143K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593405	NM_020664.4(DECR2):c.430G>A (p.Val144Met)	DECR2 (V144M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081240	NM_020664.4(DECR2):c.437G>A (p.Arg146His)	DECR2 (R146H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509591	NM_020664.4(DECR2):c.440T>C (p.Val147Ala)	DECR2 (V147A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509592	NM_020664.4(DECR2):c.446A>G (p.Tyr149Cys)	DECR2 (Y149C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513849	NM_020664.4(DECR2):c.481G>A (p.Val161Met)	DECR2 (V161M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081241	NM_020664.4(DECR2):c.500T>C (p.Leu167Pro)	DECR2 (L167P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222685	NM_020664.4(DECR2):c.503G>C (p.Gly168Ala)	DECR2 (G168A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081242	NM_020664.4(DECR2):c.508C>T (p.Arg170Trp)	DECR2 (R170W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335685	NM_020664.4(DECR2):c.512G>T (p.Gly171Val)	DECR2 (G171V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081243	NM_020664.4(DECR2):c.533C>T (p.Ala178Val)	DECR2 (A178V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081244	NM_020664.4(DECR2):c.536G>A (p.Gly179Asp)	DECR2 (G179D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524919	NM_020664.4(DECR2):c.560C>T (p.Ala187Val)	DECR2 (A187V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081245	NM_020664.4(DECR2):c.569G>A (p.Arg190Gln)	DECR2 (R190Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225852	NM_020664.4(DECR2):c.586T>G (p.Trp196Gly)	DECR2 (W196G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081246	NM_020664.4(DECR2):c.589G>A (p.Gly197Ser)	DECR2 (G197S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081247	NM_020664.4(DECR2):c.592C>T (p.Pro198Ser)	DECR2 (P198S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514458	NM_020664.4(DECR2):c.605G>A (p.Arg202His)	DECR2 (R202H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367758	NM_020664.4(DECR2):c.619G>A (p.Ala207Thr)	DECR2 (A207T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081248	NM_020664.4(DECR2):c.645G>C (p.Glu215Asp)	DECR2 (E215D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403840	NM_020664.4(DECR2):c.653G>A (p.Arg218Gln)	DECR2 (R218Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081249	NM_020664.4(DECR2):c.736G>A (p.Ala246Thr)	DECR2 (A246T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481981	NM_020664.4(DECR2):c.748C>T (p.Leu250Phe)	DECR2 (L250F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081250	NM_020664.4(DECR2):c.764C>T (p.Pro255Leu)	DECR2 (P255L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081251	NM_020664.4(DECR2):c.778G>A (p.Val260Met)	DECR2 (V260M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361765	NM_020664.4(DECR2):c.808G>A (p.Gly270Arg)	DECR2 (G270R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081252	NM_020664.4(DECR2):c.855C>G (p.Phe285Leu)	DECR2 (F285L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 150513	GRCh38/hg38 16p13.3(chr16:412341-925326)x3	ANTKMT, CAPN15 +76 more	Copy number gain	See cases	GUncertain significance
Select item 3243622	NC_000016.9:g.(?_256302)_(1557737_?)del	TELO2, STUB1 +53 more	Deletion	not provided	GPathogenic
Select item 3243338	NC_000016.9:g.(?_396128)_(1204056_?)dup	ANTKMT, AXIN1 +34 more	Duplication	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 2685537	GRCh37/hg19 16p13.3(chr16:85881-470832)x1	ARHGDIG, AXIN1 +18 more	Copy number loss	not provided	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	ANTKMT, ARHGDIG +64 more	Deletion	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 2426265	NC_000016.9:g.(?_256302)_(1918176_?)del	C1QTNF8, CACNA1H +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	TIGD7, TMEM204 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 2425036	NC_000016.9:g.(?_256302)_(633035_?)del	ARHGDIG, AXIN1 +13 more	Deletion	Epilepsy	GPathogenic
Select item 2425034	NC_000016.9:g.(?_289853)_(626274_?)dup	ARHGDIG, AXIN1 +12 more	Duplication	Epilepsy	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 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 1526480	GRCh37/hg19 16p13.3(chr16:85880-754083)	WDR90, WFIKKN1 +34 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 980576	GRCh37/hg19 16p13.3(chr16:256384-542814)x3	MRPL28, FAM234A +9 more	Copy number gain	not provided	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 815769	GRCh37/hg19 16p13.3(chr16:364182-1186480)x3	PRR25, LMF1 +33 more	Copy number gain	not provided	GUncertain significance
Select item 815768	GRCh37/hg19 16p13.3(chr16:205271-589830)x3	NME4, CAPN15 +14 more	Copy number gain	not provided	GUncertain significance
Select item 815767	GRCh37/hg19 16p13.3(chr16:106988-735154)x3	PRR35, AXIN1 +32 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 688969	GRCh37/hg19 16p13.3(chr16:390858-546267)x1	AXIN1, DECR2 +4 more	Copy number loss	not provided	GUncertain significance
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 625723	GRCh37/hg19 16p13.3(chr16:109978-4316797)	ABCA3, ADCY9 +159 more	Copy number gain	Chromosome 16p13.3 duplication syndrome	GPathogenic
Select item 564255	GRCh37/hg19 16p13.3(chr16:293387-614930)x1	PGAP6, PDIA2 +10 more	Copy number loss	not provided	GUncertain significance
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 443353	GRCh37/hg19 16p13.3(chr16:85880-546267)x3	ARHGDIG, AXIN1 +19 more	Copy number gain	See cases	GUncertain significance
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	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +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 442602	GRCh37/hg19 16p13.3(chr16:106859-735154)x3	ARHGDIG, AXIN1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 441754	GRCh37/hg19 16p13.3(chr16:85880-643107)x1	HBA1, HBA2 +24 more	Copy number loss	See cases	GPathogenic
Select item 395719	GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448)	CLDN6, CLDN9 +196 more	Copy number gain	See cases	GPathogenic

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