14171[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 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 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 59425	GRCh38/hg38 16p13.3(chr16:105429-1499893)x1	ANTKMT, ARHGDIG +164 more	Copy number loss	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 58600	GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3	BAIAP3, BRICD5 +162 more	Copy number gain	See cases	GPathogenic
Select item 58602	GRCh38/hg38 16p13.3(chr16:1278821-1919148)x3	MAPK8IP3, MAPK8IP3-AS1 +88 more	Copy number gain	See cases	GPathogenic
Select item 3311716	NM_001328608.2(PTX4):c.1427G>T (p.Arg476Leu)	PTX4 (R471L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3149758	NM_001328608.2(PTX4):c.1427G>A (p.Arg476His)	PTX4 (R476H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2478208	NM_001328608.2(PTX4):c.1387G>A (p.Gly463Ser)	PTX4 (G458S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218229	NM_001328608.2(PTX4):c.1373A>G (p.Asn458Ser)	PTX4 (N458S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149757	NM_001328608.2(PTX4):c.1364C>T (p.Thr455Met)	PTX4 (T450M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524650	NM_001328608.2(PTX4):c.1359C>G (p.Ile453Met)	PTX4 (I448M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149756	NM_001328608.2(PTX4):c.1333G>A (p.Gly445Arg)	PTX4 (G445R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412304	NM_001328608.2(PTX4):c.1297G>T (p.Ala433Ser)	PTX4 (A433S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311715	NM_001328608.2(PTX4):c.1295G>A (p.Arg432Gln)	PTX4 (R427Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331232	NM_001328608.2(PTX4):c.1292A>G (p.Asp431Gly)	PTX4 (D431G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467729	NM_001328608.2(PTX4):c.1268G>A (p.Ser423Asn)	PTX4 (S418N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311713	NM_001328608.2(PTX4):c.1252G>C (p.Glu418Gln)	PTX4 (E413Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210790	NM_001328608.2(PTX4):c.1139G>A (p.Arg380His)	PTX4 (R380H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149755	NM_001328608.2(PTX4):c.1106C>T (p.Ser369Phe)	PTX4 (S364F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361629	NM_001328608.2(PTX4):c.1034C>T (p.Pro345Leu)	PTX4 (P340L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149769	NM_001328608.2(PTX4):c.974T>C (p.Leu325Pro)	PTX4 (L320P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365375	NM_001328608.2(PTX4):c.955G>A (p.Glu319Lys)	PTX4 (E314K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365964	NM_001328608.2(PTX4):c.925C>T (p.Arg309Cys)	PTX4 (R304C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149767	NM_001328608.2(PTX4):c.847G>A (p.Val283Met)	PTX4 (V278M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589862	NM_001328608.2(PTX4):c.827C>G (p.Pro276Arg)	PTX4 (P276R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364089	NM_001328608.2(PTX4):c.820G>A (p.Val274Ile)	PTX4 (V274I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2369714	NM_001328608.2(PTX4):c.805G>A (p.Val269Met)	PTX4 (V264M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236755	NM_001328608.2(PTX4):c.667C>G (p.Pro223Ala)	PTX4 (P218A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149766	NM_001328608.2(PTX4):c.664C>T (p.Pro222Ser)	PTX4 (P222S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526326	NM_001328608.2(PTX4):c.659G>T (p.Arg220Met)	PTX4 (R215M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149765	NM_001328608.2(PTX4):c.520C>T (p.Arg174Trp)	PTX4 (R169W +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3149764	NM_001328608.2(PTX4):c.497C>T (p.Ala166Val)	PTX4 (A161V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613379	NM_001328608.2(PTX4):c.492G>C (p.Gln164His)	PTX4 (Q159H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311717	NM_001328608.2(PTX4):c.476G>A (p.Gly159Asp)	PTX4 (G154D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149763	NM_001328608.2(PTX4):c.466C>T (p.Arg156Cys)	PTX4 (R156C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564156	NM_001328608.2(PTX4):c.427C>A (p.His143Asn)	PTX4 (H138N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570495	NM_001328608.2(PTX4):c.413G>A (p.Arg138Gln)	PTX4 (R138Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3149761	NM_001328608.2(PTX4):c.409G>T (p.Ala137Ser)	PTX4 (A132S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362715	NM_001328608.2(PTX4):c.406C>T (p.Arg136Trp)	PTX4 (R136W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406139	NM_001328608.2(PTX4):c.386T>C (p.Leu129Pro)	PTX4 (L129P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346519	NM_001328608.2(PTX4):c.361C>T (p.Arg121Trp)	PTX4 (R116W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311714	NM_001328608.2(PTX4):c.359C>T (p.Thr120Met)	PTX4 (T115M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2284494	NM_001328608.2(PTX4):c.308A>G (p.Gln103Arg)	PTX4 (Q103R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324895	NM_001328608.2(PTX4):c.289G>C (p.Val97Leu)	PTX4 (V92L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620800	NM_001328608.2(PTX4):c.275G>A (p.Arg92Gln)	PTX4 (R87Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2405042	NM_001328608.2(PTX4):c.224G>C (p.Arg75Pro)	PTX4 (R70P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149760	NM_001328608.2(PTX4):c.214G>A (p.Val72Ile)	PTX4 (V72I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2221959	NM_001328608.2(PTX4):c.145C>T (p.Arg49Trp)	PTX4 (R49W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529838	NM_001328608.2(PTX4):c.142-395G>A	PTX4 (V35M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409162	NM_001328608.2(PTX4):c.141+396G>A	PTX4 (R32Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149768	NM_001328608.2(PTX4):c.141+391G>T	PTX4 (Q30H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298661	NM_001328608.2(PTX4):c.141+377G>A	PTX4 (G26R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2547390	NM_001328608.2(PTX4):c.141+374C>T	PTX4 (R25C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2396614	NM_001328608.2(PTX4):c.141+362C>T	PTX4 (P21S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204013	NM_001328608.2(PTX4):c.141+345G>T	PTX4 (S15I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374849	NM_001328608.2(PTX4):c.141+317T>A	PTX4 (W6R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272540	NM_001328608.2(PTX4):c.141+309G>C	PTX4 (S3T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3243622	NC_000016.9:g.(?_256302)_(1557737_?)del	TELO2, STUB1 +53 more	Deletion	not provided	GPathogenic
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	Idiopathic generalized epilepsy +2 more	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 2684773	GRCh37/hg19 16p13.3(chr16:1505227-1960381)x3	CLCN7, CRAMP1 +15 more	Copy number gain	not provided	GUncertain significance
Select item 2684772	GRCh37/hg19 16p13.3(chr16:1054247-2592737)x3	ABCA3, AMDHD2 +66 more	Copy number gain	not provided	GLikely pathogenic
Select item 2498682	GRCh37/hg19 16p13.3(chr16:811896-2130379)x1	BAIAP3, C1QTNF8 +52 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 2425967	NC_000016.9:g.(?_1496632)_(1561171_?)dup	CLCN7, IFT140 +2 more	Duplication	Saldino-Mainzer syndrome	GUncertain significance
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	TIGD7, TMEM204 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 1808452	GRCh37/hg19 16p13.3(chr16:1129080-2021055)x3	BAIAP3, C1QTNF8 +36 more	Copy number gain	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 1487347	NC_000016.9:g.(?_1507235)_(1576817_?)dup	CLCN7, IFT140 +2 more	Duplication	not provided	GUncertain significance
Select item 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic
Select item 1017417	NC_000016.9:g.(?_624055)_(2153916_?)dup	CCDC78, ANTKMT +71 more	Duplication	Epilepsy +2 more	GUncertain significance
Select item 980574	GRCh37/hg19 16p13.3(chr16:1505184-1818754)x3	PTX4, JPT2 +6 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 833445	NC_000016.9:g.(?_1203718)_(2185710_?)del	EME2, FAHD1 +45 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 833344	NC_000016.9:g.(?_624055)_(2550979_?)dup	IGFALS, MRPS34 +86 more	Duplication	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 832809	NC_000016.10:g.(?_1485939)_(1511150_?)del	IFT140, PTX4 +1 more	Deletion	Saldino-Mainzer syndrome	GUncertain significance
Select item 832709	NC_000016.9:g.(?_624055)_(2148005_?)del	CCDC78, CHTF18 +71 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 688348	GRCh37/hg19 16p13.3(chr16:85880-2053328)x1	ANTKMT, ARHGDIG +89 more	Copy number loss	not provided	GPathogenic
Select item 655214	NC_000016.9:g.(?_624055)_(2115656_?)del	ANTKMT, BAIAP3 +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 564256	GRCh37/hg19 16p13.3(chr16:1505184-4415346)x3	ABCA3, ADCY9 +103 more	Copy number gain	not provided	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 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	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

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