7852[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	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 145053	GRCh38/hg38 16p13.3(chr16:350651-396961)x3	AXIN1, LOC100134368 +11 more	Copy number gain	See cases	GBenign
Select item 145052	GRCh38/hg38 16p13.3(chr16:350651-396961)x4	AXIN1, LOC100134368 +11 more	Copy number gain	See cases	GBenign
Select item 2463390	NM_005009.3(NME4):c.8G>T (p.Gly3Val)	LOC130058101, NME4 (G3V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2288760	NM_005009.3(NME4):c.34G>T (p.Gly12Trp)	LOC130058101, NME4 (G12W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3200800	NM_005009.3(NME4):c.43T>C (p.Cys15Arg)	LOC130058101, NME4 (C15R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2394339	NM_005009.3(NME4):c.47G>T (p.Gly16Val)	LOC130058101, NME4 (G16V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2528116	NM_005009.3(NME4):c.50C>G (p.Pro17Arg)	LOC130058101, NME4 (P17R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2315901	NM_005009.3(NME4):c.64C>T (p.Pro22Ser)	LOC130058101, NME4 (P22S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2378734	NM_005009.3(NME4):c.109C>T (p.Arg37Trp)	NME4 (R37W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3300148	NM_005009.3(NME4):c.116G>A (p.Arg39Gln)	NME4 (R39Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469930	NM_005009.3(NME4):c.139G>A (p.Asp47Asn)	NME4 (D47N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267800	NM_005009.3(NME4):c.154C>T (p.Arg52Trp)	NME4 (R52W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377089	NM_005009.3(NME4):c.160G>A (p.Val54Ile)	NME4 (V54I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3300147	NM_005009.3(NME4):c.164G>C (p.Gly55Ala)	NME4 (G55A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3300150	NM_005009.3(NME4):c.167A>G (p.Asp56Gly)	NME4 (D56G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345809	NM_005009.3(NME4):c.191G>A (p.Arg64Gln)	NME4 (R64Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200797	NM_005009.3(NME4):c.220C>G (p.Leu74Val)	NME4 (L74V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406092	NM_005009.3(NME4):c.238G>A (p.Val80Ile)	NME4 (V80I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 720751	NM_005009.3(NME4):c.246C>T (p.Ala82=)	NME4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2360424	NM_005009.3(NME4):c.289C>G (p.Leu97Val)	NME4 (L97V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259401	NM_005009.3(NME4):c.303G>A (p.Met101Ile)	NME4 (M101I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1266035	NM_005009.3(NME4):c.328-73G>C	NME4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2514101	NM_005009.3(NME4):c.340T>A (p.Tyr114Asn)	NME4 (Y80N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200799	NM_005009.3(NME4):c.353G>A (p.Arg118His)	NME4 (R118H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344653	NM_005009.3(NME4):c.386C>T (p.Ser129Leu)	NME4 (S59L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350590	NM_005009.3(NME4):c.454G>A (p.Ala152Thr)	NME4 (A152T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235318	NM_005009.3(NME4):c.481C>T (p.Arg161Trp)	NME4 (R161W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200801	NM_005009.3(NME4):c.509G>A (p.Ser170Asn)	NME4 (S100N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533341	NM_005009.3(NME4):c.532G>A (p.Gly178Arg)	NME4 (G108R +2 more)	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 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
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 395466	GRCh37/hg19 16p13.3(chr16:449695-474204)x3	DECR2, NME4	Copy number gain	See cases	GBenign
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 221508	GRCh37/hg19 16p13.3(chr16:324072-705832)x3	PRR35, AXIN1 +16 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