ClinVar for Gene (Select 79006) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3294405	NM_024042.4(METRN):c.341C>G (p.Ala114Gly)	METRN (A114G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294404	NM_024042.4(METRN):c.122C>T (p.Pro41Leu)	METRN (P41L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294403	NM_024042.4(METRN):c.823C>T (p.Arg275Cys)	METRN (R275C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294402	NM_024042.4(METRN):c.824G>A (p.Arg275His)	METRN (R275H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294401	NM_024042.4(METRN):c.122C>G (p.Pro41Arg)	METRN (P41R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294400	NM_024042.4(METRN):c.730G>A (p.Val244Ile)	METRN (V244I)	Single nucleotide variant (missense variant)	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 3125425	NM_024042.4(METRN):c.88T>A (p.Cys30Ser)	METRN (C30S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125424	NM_024042.4(METRN):c.872C>T (p.Ala291Val)	METRN (A291V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3125423	NM_024042.4(METRN):c.832G>A (p.Glu278Lys)	METRN (E278K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125422	NM_024042.4(METRN):c.650G>A (p.Arg217His)	METRN (R217H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125421	NM_024042.4(METRN):c.601G>A (p.Val201Met)	METRN (V201M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125420	NM_024042.4(METRN):c.593C>T (p.Thr198Ile)	METRN (T198I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125417	NM_024042.4(METRN):c.425G>C (p.Arg142Pro)	METRN (R142P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125416	NM_024042.4(METRN):c.408C>G (p.His136Gln)	METRN (H136Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125415	NM_024042.4(METRN):c.344G>C (p.Gly115Ala)	METRN (G115A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125414	NM_024042.4(METRN):c.125G>A (p.Gly42Asp)	METRN (G42D)	Single nucleotide variant (missense variant)	not specified	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 2593344	NM_024042.4(METRN):c.728G>C (p.Gly243Ala)	METRN (G243A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552002	NM_024042.4(METRN):c.388T>C (p.Phe130Leu)	METRN (F130L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534070	NM_024042.4(METRN):c.74A>G (p.Tyr25Cys)	METRN (Y25C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532145	NM_024042.4(METRN):c.298G>C (p.Gly100Arg)	METRN (G100R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485183	NM_024042.4(METRN):c.683C>T (p.Ser228Phe)	METRN (S228F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476793	NM_024042.4(METRN):c.278A>G (p.Gln93Arg)	METRN (Q93R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462524	NM_024042.4(METRN):c.235G>T (p.Gly79Cys)	METRN (G79C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2382852	NM_024042.4(METRN):c.721C>T (p.Arg241Cys)	METRN (R241C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354475	NM_024042.4(METRN):c.335G>A (p.Gly112Asp)	METRN (G112D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352121	NM_024042.4(METRN):c.184G>A (p.Ala62Thr)	METRN (A62T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334099	NM_024042.4(METRN):c.806G>T (p.Arg269Leu)	METRN (R269L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331528	NM_024042.4(METRN):c.363G>C (p.Trp121Cys)	METRN (W121C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308911	NM_024042.4(METRN):c.56C>T (p.Pro19Leu)	METRN (P19L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293169	NM_024042.4(METRN):c.708T>G (p.Ile236Met)	METRN (I236M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282739	NM_024042.4(METRN):c.64C>T (p.Arg22Cys)	METRN (R22C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271132	NM_024042.4(METRN):c.557G>T (p.Ser186Ile)	METRN (S186I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263811	NM_024042.4(METRN):c.821G>A (p.Arg274His)	METRN (R274H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250186	NM_024042.4(METRN):c.361T>C (p.Trp121Arg)	METRN (W121R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220474	NM_024042.4(METRN):c.640C>T (p.Arg214Cys)	METRN (R214C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218088	NM_024042.4(METRN):c.800C>T (p.Ala267Val)	METRN (A267V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215122	NM_024042.4(METRN):c.285C>A (p.Phe95Leu)	METRN (F95L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208694	NM_024042.4(METRN):c.649C>T (p.Arg217Cys)	METRN (R217C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206733	NM_024042.4(METRN):c.709C>T (p.Arg237Cys)	METRN (R237C)	Single nucleotide variant (missense variant)	not specified	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	CHTF18, CIAO3 +13 more	Deletion	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 1017417	NC_000016.9:g.(?_624055)_(2153916_?)dup	CCDC78, ANTKMT +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	IGFALS, MRPS34 +86 more	Duplication	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 832709	NC_000016.9:g.(?_624055)_(2148005_?)del	CCDC78, CHTF18 +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	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 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	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 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 395684	GRCh37/hg19 16p13.3(chr16:686673-772554)x1	ANTKMT, FBXL16 +8 more	Copy number loss	See cases	GBenign
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 394840	GRCh37/hg19 16p13.3(chr16:97133-5122974)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 394434	GRCh37/hg19 16p13.3(chr16:755749-766588)x3	FBXL16, METRN	Copy number gain	See cases	GBenign
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 221509	GRCh37/hg19 16p13.3(chr16:706802-772110)x4	FBXL16, JMJD8 +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
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 152879	GRCh38/hg38 16p13.3(chr16:59980-1221651)x1	ANTKMT, ARHGDIG +130 more	Copy number loss	See cases	GPathogenic
Select item 152593	GRCh38/hg38 16p13.3(chr16:650260-722554)x1	ANTKMT, FBXL16 +18 more	Copy number loss	See cases	GBenign
Select item 151645	GRCh38/hg38 16p13.3(chr16:534395-722554)x3	ANTKMT, CAPN15 +47 more	Copy number gain	See cases	GBenign
Select item 151633	GRCh38/hg38 16p13.3(chr16:636673-786508)x3	ANTKMT, CCDC78 +40 more	Copy number gain	See cases	GBenign
Select item 150513	GRCh38/hg38 16p13.3(chr16:412341-925326)x3	ANTKMT, CAPN15 +76 more	Copy number gain	See cases	GUncertain significance
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	HBZ, HCFC1R1 +917 more	Copy number gain	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 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 145938	GRCh38/hg38 16p13.3(chr16:551385-722554)x3	ANTKMT, CAPN15 +45 more	Copy number gain	See cases	GLikely benign
Select item 145576	GRCh38/hg38 16p13.3(chr16:46766-1544014)x1	ANTKMT, ARHGDIG +179 more	Copy number loss	See cases	GPathogenic
Select item 145245	GRCh38/hg38 16p13.3(chr16:636673-722554)x1	ANTKMT, FBXL16 +26 more	Copy number loss	See cases	GBenign
Select item 145243	GRCh38/hg38 16p13.3(chr16:636673-722554)x3	LOC130058119, LOC130058120 +26 more	Copy number gain	See cases	GBenign

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