100505475[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	FBXO5, FNDC1 +865 more	Copy number gain	See cases	GPathogenic
Select item 58452	GRCh38/hg38 6q24.2-25.2(chr6:144932561-152985364)x1	ADGB, ADGB-DT +227 more	Copy number loss	See cases	GPathogenic
Select item 2663766	NC_000006.12:g.(?_150381239)_(159553952_?)del	LOC129997480, LOC129997522 +288 more	Deletion	Chromosome 6q24-q25 deletion syndrome	GPathogenic
Select item 150766	GRCh38/hg38 6q25.1-25.3(chr6:150381239-159553952)x1	AKAP12, ARID1B +288 more	Copy number loss	See cases	GPathogenic
Select item 2579284	GRCh38/hg38 6q25.1-25.3(chr6:150905553-158511926)x1	AKAP12, ARID1B +208 more	Copy number loss	Coffin-Siris syndrome 1	GPathogenic
Select item 538429	NC_000006.12:g.(?_152122416)_(153426916_?)del	ESR1, FBXO5 +31 more	Deletion	Autosomal recessive ataxia, Beauce type +1 more	GPathogenic
Select item 691949	NM_182961.4(SYNE1):c.[20263C>T;8889del]	SYNE1, SYNE1-AS1 (R6684* +3 more)	Single nucleotide variant (nonsense +2 more)	Autosomal recessive ataxia, Beauce type	GPathogenic
Select item 154821	GRCh38/hg38 6q25.2(chr6:152376315-152902773)x3	LINC02840, LOC126859838 +8 more	Copy number gain	See cases	GUncertain significance
Select item 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	ACAT2, AFDN +571 more	Copy number gain	See cases	GPathogenic
Select item 1265597	NM_182961.4(SYNE1):c.9009+145G>A	SYNE1, SYNE1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1654039	NM_182961.4(SYNE1):c.9009+14C>T	SYNE1, SYNE1-AS1	Single nucleotide variant (intron variant)	Autosomal recessive ataxia, Beauce type +1 more	GLikely benign
Select item 576712	NM_182961.4(SYNE1):c.9009+5G>T	SYNE1, SYNE1-AS1	Single nucleotide variant (intron variant)	Autosomal recessive ataxia, Beauce type +1 more	GUncertain significance
Select item 2020370	NM_182961.4(SYNE1):c.9006A>G (p.Gly3002=)	SYNE1, SYNE1-AS1	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 392406	NM_182961.4(SYNE1):c.9000C>A (p.His3000Gln)	SYNE1, SYNE1-AS1 (H3000Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 805588	NM_182961.4(SYNE1):c.8994C>T (p.Cys2998=)	SYNE1, SYNE1-AS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2657023	NM_182961.4(SYNE1):c.8992T>C (p.Cys2998Arg)	SYNE1, SYNE1-AS1 (C2998R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1030081	NM_182961.4(SYNE1):c.8984T>C (p.Ile2995Thr)	SYNE1, SYNE1-AS1 (I2995T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type	GUncertain significance
Select item 1714296	NM_182961.4(SYNE1):c.8983A>T (p.Ile2995Leu)	SYNE1, SYNE1-AS1 (I2995L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +1 more	GUncertain significance
Select item 283674	NM_182961.4(SYNE1):c.8973G>A (p.Thr2991=)	SYNE1-AS1, SYNE1	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +4 more	GConflicting classifications of pathogenicity
Select item 284631	NM_182961.4(SYNE1):c.8972C>T (p.Thr2991Met)	SYNE1, SYNE1-AS1 (T2991M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2079900	NM_182961.4(SYNE1):c.8957T>C (p.Leu2986Pro)	SYNE1, SYNE1-AS1 (L2993P +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +1 more	GUncertain significance
Select item 747967	NM_182961.4(SYNE1):c.8946G>A (p.Gln2982=)	SYNE1, SYNE1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive ataxia, Beauce type +1 more	GLikely benign
Select item 1401011	NM_182961.4(SYNE1):c.8937G>C (p.Trp2979Cys)	SYNE1, SYNE1-AS1 (W2979C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 593546	NM_182961.4(SYNE1):c.8934C>T (p.Thr2978=)	SYNE1, SYNE1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 805587	NM_182961.4(SYNE1):c.8918G>A (p.Ser2973Asn)	SYNE1, SYNE1-AS1 (S2973N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 1904168	NM_182961.4(SYNE1):c.8914T>A (p.Phe2972Ile)	SYNE1, SYNE1-AS1 (F2972I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GUncertain significance
Select item 1046328	NM_182961.4(SYNE1):c.8905C>G (p.Leu2969Val)	SYNE1, SYNE1-AS1 (L2969V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive ataxia, Beauce type +1 more	GUncertain significance
Select item 2105588	NM_182961.4(SYNE1):c.8893C>T (p.Leu2965=)	SYNE1, SYNE1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive ataxia, Beauce type +1 more	GLikely benign
Select item 501559	NM_182961.4(SYNE1):c.8890C>T (p.Gln2964Ter)	SYNE1, SYNE1-AS1 (Q2964* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 691963	NM_182961.4(SYNE1):c.8889del (p.Gln2964fs)	SYNE1, SYNE1-AS1 (Q2964fs +1 more)	Deletion (non-coding transcript variant +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 471058	NM_182961.4(SYNE1):c.8888C>A (p.Ala2963Asp)	SYNE1, SYNE1-AS1 (A2963D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GUncertain significance
Select item 586747	NM_182961.4(SYNE1):c.8885del (p.Val2962fs)	SYNE1, SYNE1-AS1 (V2969fs +1 more)	Deletion (non-coding transcript variant +1 more)	Autosomal recessive ataxia, Beauce type +2 more	GPathogenic
Select item 937798	NM_182961.4(SYNE1):c.8884G>C (p.Val2962Leu)	SYNE1, SYNE1-AS1 (V2962L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive ataxia, Beauce type +1 more	GUncertain significance
Select item 2166883	NM_182961.4(SYNE1):c.8883A>G (p.Gln2961=)	SYNE1, SYNE1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive ataxia, Beauce type +1 more	GLikely benign
Select item 1033004	NM_182961.4(SYNE1):c.8882A>G (p.Gln2961Arg)	SYNE1, SYNE1-AS1 (Q2961R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	GUncertain significance
Select item 284818	NM_182961.4(SYNE1):c.8866C>T (p.Gln2956Ter)	SYNE1, SYNE1-AS1 (Q2963* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2684066	NM_182961.4(SYNE1):c.8865G>T (p.Glu2955Asp)	SYNE1, SYNE1-AS1 (E2955D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1417626	NM_182961.4(SYNE1):c.8862G>A (p.Ser2954=)	SYNE1, SYNE1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive ataxia, Beauce type +1 more	GLikely benign
Select item 2585071	NM_182961.4(SYNE1):c.8861C>A (p.Ser2954Ter)	SYNE1, SYNE1-AS1 (S2954* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Arthrogryposis multiplex congenita 3, myogenic type	GLikely pathogenic
Select item 501304	NM_182961.4(SYNE1):c.8861C>T (p.Ser2954Leu)	SYNE1, SYNE1-AS1 (S2954L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive ataxia, Beauce type +2 more	GUncertain significance
Select item 1695171	NM_182961.4(SYNE1):c.8851A>T (p.Met2951Leu)	SYNE1, SYNE1-AS1 (M2951L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1508184	NM_182961.4(SYNE1):c.8851A>G (p.Met2951Val)	SYNE1, SYNE1-AS1 (M2958V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive ataxia, Beauce type +1 more	GUncertain significance
Select item 2252198	NM_182961.4(SYNE1):c.8845A>G (p.Ser2949Gly)	SYNE1, SYNE1-AS1 (S2956G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 586746	NM_182961.4(SYNE1):c.8844C>T (p.Val2948=)	SYNE1, SYNE1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GLikely benign
Select item 284811	NM_182961.4(SYNE1):c.8839C>G (p.Leu2947Val)	SYNE1, SYNE1-AS1 (L2947V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GUncertain significance
Select item 1565571	NM_182961.4(SYNE1):c.8838C>T (p.Asn2946=)	SYNE1, SYNE1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive ataxia, Beauce type +1 more	GLikely benign
Select item 282481	NM_182961.4(SYNE1):c.8828G>A (p.Cys2943Tyr)	SYNE1-AS1, SYNE1 (C2943Y +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1430661	NM_182961.4(SYNE1):c.8825G>C (p.Ser2942Thr)	SYNE1, SYNE1-AS1 (S2942T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive ataxia, Beauce type +2 more	GUncertain significance
Select item 805586	NM_182961.4(SYNE1):c.8820G>T (p.Thr2940=)	SYNE1, SYNE1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GLikely benign
Select item 2195870	NM_182961.4(SYNE1):c.8819C>T (p.Thr2940Met)	SYNE1, SYNE1-AS1 (T2940M +1 more)	Single nucleotide variant (missense variant +1 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GUncertain significance
Select item 1604906	NM_182961.4(SYNE1):c.8814C>T (p.Phe2938=)	SYNE1, SYNE1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 500931	NM_182961.4(SYNE1):c.8812T>C (p.Phe2938Leu)	SYNE1-AS1, SYNE1 (F2938L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive ataxia, Beauce type +2 more	GUncertain significance
Select item 1383492	NM_182961.4(SYNE1):c.8789G>A (p.Trp2930Ter)	SYNE1, SYNE1-AS1 (W2930* +1 more)	Single nucleotide variant (nonsense +1 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GPathogenic
Select item 289370	NM_182961.4(SYNE1):c.8785G>A (p.Asp2929Asn)	SYNE1, SYNE1-AS1 (D2929N +1 more)	Single nucleotide variant (missense variant +1 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GUncertain significance
Select item 1083184	NM_182961.4(SYNE1):c.8784C>T (p.Ala2928=)	SYNE1, SYNE1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive ataxia, Beauce type +1 more	GLikely benign
Select item 283665	NM_182961.4(SYNE1):c.8780G>A (p.Arg2927His)	SYNE1, SYNE1-AS1 (R2934H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive ataxia, Beauce type +2 more	GUncertain significance
Select item 952428	NM_182961.4(SYNE1):c.8779C>T (p.Arg2927Cys)	SYNE1, SYNE1-AS1 (R2927C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive ataxia, Beauce type +1 more	GUncertain significance
Select item 499007	NM_182961.4(SYNE1):c.8779C>G (p.Arg2927Gly)	SYNE1-AS1, SYNE1 (R2927G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive ataxia, Beauce type +2 more	GUncertain significance
Select item 2197697	NM_182961.4(SYNE1):c.8773G>T (p.Ala2925Ser)	SYNE1, SYNE1-AS1 (A2925S +1 more)	Single nucleotide variant (missense variant +1 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GUncertain significance
Select item 982830	NM_182961.4(SYNE1):c.8769G>T (p.Met2923Ile)	SYNE1, SYNE1-AS1 (M2923I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Arthrogryposis multiplex congenita 3, myogenic type	GUncertain significance
Select item 389839	NM_182961.4(SYNE1):c.8763G>A (p.Thr2921=)	SYNE1, SYNE1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 538406	NM_182961.4(SYNE1):c.8762C>T (p.Thr2921Met)	SYNE1, SYNE1-AS1 (T2928M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive ataxia, Beauce type +1 more	GUncertain significance
Select item 2938356	NM_182961.4(SYNE1):c.8754C>T (p.Leu2918=)	SYNE1, SYNE1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 594973	NM_182961.4(SYNE1):c.8748T>C (p.Cys2916=)	SYNE1, SYNE1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 286263	NM_182961.4(SYNE1):c.8745G>A (p.Gly2915=)	SYNE1-AS1, SYNE1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 754909	NM_182961.4(SYNE1):c.8742T>C (p.Ser2914=)	SYNE1, SYNE1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 597164	NM_182961.4(SYNE1):c.8741G>A (p.Ser2914Asn)	SYNE1-AS1, SYNE1 (S2914N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 286224	NM_182961.4(SYNE1):c.8737G>T (p.Ala2913Ser)	SYNE1, SYNE1-AS1 (A2913S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive ataxia, Beauce type +2 more	GUncertain significance
Select item 2657024	NM_182961.4(SYNE1):c.8733A>T (p.Thr2911=)	SYNE1, SYNE1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 758449	NM_182961.4(SYNE1):c.8730C>T (p.Asn2910=)	SYNE1-AS1, SYNE1	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive ataxia, Beauce type +1 more	GLikely benign
Select item 290730	NM_182961.4(SYNE1):c.8728A>G (p.Asn2910Asp)	SYNE1, SYNE1-AS1 (N2910D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2172751	NM_182961.4(SYNE1):c.8719G>T (p.Val2907Leu)	SYNE1, SYNE1-AS1 (V2907L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive ataxia, Beauce type +2 more	GUncertain significance
Select item 579192	NM_182961.4(SYNE1):c.8716G>A (p.Glu2906Lys)	SYNE1, SYNE1-AS1 (E2913K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	SYNE1-related disorder +3 more	GUncertain significance
Select item 2189157	NM_182961.4(SYNE1):c.8715C>T (p.Pro2905=)	SYNE1, SYNE1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 1957997	NM_182961.4(SYNE1):c.8706G>A (p.Ser2902=)	SYNE1, SYNE1-AS1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive ataxia, Beauce type +1 more	GLikely benign
Select item 963947	NM_182961.4(SYNE1):c.8705C>G (p.Ser2902Trp)	SYNE1, SYNE1-AS1 (S2902W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive ataxia, Beauce type +1 more	GUncertain significance
Select item 538405	NM_182961.4(SYNE1):c.8705C>T (p.Ser2902Leu)	SYNE1, SYNE1-AS1 (S2902L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive ataxia, Beauce type +1 more	GUncertain significance
Select item 2005070	NM_182961.4(SYNE1):c.8701G>A (p.Glu2901Lys)	SYNE1, SYNE1-AS1 (E2908K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive ataxia, Beauce type +1 more	GUncertain significance
Select item 2327	NM_182961.4(SYNE1):c.8695A>T (p.Arg2899Ter)	SYNE1, SYNE1-AS1 (R2906* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 1125538	NM_182961.4(SYNE1):c.8691C>T (p.Leu2897=)	SYNE1, SYNE1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 498062	NM_182961.4(SYNE1):c.8687G>A (p.Arg2896His)	SYNE1, SYNE1-AS1 (R2896H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 805585	NM_182961.4(SYNE1):c.8686C>T (p.Arg2896Cys)	SYNE1, SYNE1-AS1 (R2896C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 1039263	NM_182961.4(SYNE1):c.8663A>T (p.Asp2888Val)	SYNE1, SYNE1-AS1 (D2895V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive ataxia, Beauce type +1 more	GUncertain significance
Select item 290492	NM_182961.4(SYNE1):c.8659A>C (p.Ile2887Leu)	SYNE1, SYNE1-AS1 (I2894L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2420018	NM_182961.4(SYNE1):c.8657T>A (p.Leu2886Gln)	SYNE1, SYNE1-AS1 (L2886Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive ataxia, Beauce type +1 more	GUncertain significance
Select item 721482	NM_182961.4(SYNE1):c.8653-7A>G	SYNE1, SYNE1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1977005	NM_182961.4(SYNE1):c.8653-17G>A	SYNE1, SYNE1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive ataxia, Beauce type +1 more	GLikely benign
Select item 680361	NM_182961.4(SYNE1):c.8653-19T>C	SYNE1, SYNE1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GLikely benign
Select item 1193463	NM_182961.4(SYNE1):c.8653-84G>A	SYNE1, SYNE1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 683934	NM_182961.4(SYNE1):c.8653-324C>T	SYNE1, SYNE1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 1808018	GRCh37/hg19 6q25.2(chr6:152569070-152838129)x1	SYNE1, SYNE1-AS1	Copy number loss	not provided	GUncertain significance
Select item 1527306	GRCh37/hg19 6q25.2(chr6:152683412-153236408)	MYCT1, SYNE1 +2 more	Copy number gain	not specified	GUncertain significance
Select item 979577	GRCh37/hg19 6q25.1-25.2(chr6:151472860-154839846)x3	MTRF1L, AKAP12 +14 more	Copy number gain	not provided	GLikely pathogenic
Select item 814882	GRCh37/hg19 6q25.2(chr6:152681951-153241273)x3	SYNE1, MYCT1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 814881	GRCh37/hg19 6q25.2(chr6:152614123-152771099)x1	SYNE1, SYNE1-AS1	Copy number loss	not provided	GUncertain significance
Select item 814879	GRCh37/hg19 6q25.1-25.2(chr6:149431322-154120064)x1	AKAP12, ARMT1 +31 more	Copy number loss	not provided	GPathogenic
Select item 685788	GRCh37/hg19 6q24.3-25.3(chr6:148195086-160127254)x3	AKAP12, ARID1B +58 more	Copy number gain	not provided	GPathogenic

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