SYNE2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 57781	GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1	ACTR10, AKAP5 +344 more	Copy number loss	See cases	GPathogenic
Select item 149300	GRCh38/hg38 14q23.1-23.2(chr14:57653413-64093528)x1	ACTR10, ARID4A +202 more	Copy number loss	See cases	GPathogenic
Select item 57228	GRCh38/hg38 14q23.1-23.3(chr14:59917051-66750803)x1	AKAP5, C14orf39 +264 more	Copy number loss	See cases	GPathogenic
Select item 149197	GRCh38/hg38 14q23.2-23.3(chr14:62252700-65753416)x1	AKAP5, CHURC1 +130 more	Copy number loss	See cases	GPathogenic
Select item 149661	GRCh38/hg38 14q23.2(chr14:63153722-64093651)x3	GPHB5, LOC112268140 +29 more	Copy number gain	See cases	GUncertain significance
Select item 313475	NM_182914.2(SYNE2):c.-224C>T	LOC130055816, SYNE2	Single nucleotide variant (genic upstream transcript variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GBenign
Select item 313476	NM_182914.2(SYNE2):c.-209A>T	LOC130055816, SYNE2	Single nucleotide variant (genic upstream transcript variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 313477	NM_182914.2(SYNE2):c.-202G>C	LOC130055816, SYNE2	Single nucleotide variant (genic upstream transcript variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GBenign
Select item 313478	NM_182914.3(SYNE2):c.-169C>T	LOC130055816, SYNE2	Single nucleotide variant (5 prime UTR variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 880870	NM_182914.3(SYNE2):c.-149G>A	LOC130055816, SYNE2	Single nucleotide variant (5 prime UTR variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 313479	NM_182914.3(SYNE2):c.-128A>T	LOC130055816, SYNE2	Single nucleotide variant (5 prime UTR variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 313480	NM_182914.3(SYNE2):c.-107G>A	LOC130055816, SYNE2	Single nucleotide variant (5 prime UTR variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 880871	NM_182914.3(SYNE2):c.-52G>A	LOC130055816, SYNE2	Single nucleotide variant (5 prime UTR variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 313481	NM_182914.3(SYNE2):c.-52+9G>A	LOC130055816, SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GBenign
Select item 1896459	NM_182914.3(SYNE2):c.6A>G (p.Ala2=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 854613	NM_182914.3(SYNE2):c.11G>A (p.Ser4Asn)	SYNE2 (S4N)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 1151436	NM_182914.3(SYNE2):c.15T>C (p.Pro5=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 1014379	NM_182914.3(SYNE2):c.18G>C (p.Glu6Asp)	SYNE2 (E6D)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 313482	NM_182914.3(SYNE2):c.22C>T (p.Pro8Ser)	SYNE2 (P8S)	Single nucleotide variant (missense variant)	SYNE2-related condition +1 more	GBenign/Likely benign
Select item 1594959	NM_182914.3(SYNE2):c.27C>T (p.Thr9=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 1434405	NM_182914.3(SYNE2):c.28G>A (p.Glu10Lys)	SYNE2 (E10K)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 858479	NM_182914.3(SYNE2):c.28G>C (p.Glu10Gln)	SYNE2 (E10Q)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 1690385	NM_182914.3(SYNE2):c.32A>C (p.Asp11Ala)	SYNE2 (D11A)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1492656	NM_182914.3(SYNE2):c.39G>T (p.Gln13His)	SYNE2 (Q13H)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2041145	NM_182914.3(SYNE2):c.54C>T (p.Ile18=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 2407681	NM_182914.3(SYNE2):c.55G>A (p.Asp19Asn)	SYNE2 (D19N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1595213	NM_182914.3(SYNE2):c.57C>T (p.Asp19=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 2712491	NM_182914.3(SYNE2):c.58G>A (p.Asp20Asn)	SYNE2 (D20N)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 576861	NM_182914.3(SYNE2):c.58G>T (p.Asp20Tyr)	SYNE2 (D20Y)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2830009	NM_182914.3(SYNE2):c.66T>C (p.His22=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 862180	NM_182914.3(SYNE2):c.79+3A>T	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 862179	NM_182914.3(SYNE2):c.79+5T>A	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2044124	NM_182914.3(SYNE2):c.79+19G>A	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GBenign
Select item 1295572	NM_182914.3(SYNE2):c.79+40G>T	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant +1 more	GBenign
Select item 1663635	NM_182914.3(SYNE2):c.80-12732A>T	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GBenign
Select item 1242505	NM_182914.3(SYNE2):c.80-163del	SYNE2	Deletion (intron variant)	not provided	GBenign
Select item 1221234	NM_182914.3(SYNE2):c.80-160del	SYNE2	Deletion (intron variant)	not provided	GBenign
Select item 1243056	NM_182914.3(SYNE2):c.80-158del	SYNE2	Deletion (intron variant)	not provided	GBenign
Select item 1183039	NM_182914.3(SYNE2):c.80-157C>G	SYNE2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2875991	NM_182914.3(SYNE2):c.80-14T>A	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 2961101	NM_182914.3(SYNE2):c.80-11T>G	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 1098968	NM_182914.3(SYNE2):c.80-7T>G	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant +1 more	GLikely benign
Select item 1536498	NM_182914.3(SYNE2):c.80-4A>G	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 2721227	NM_182914.3(SYNE2):c.113C>T (p.Thr38Met)	SYNE2 (T38M)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 1674272	NM_182914.3(SYNE2):c.114G>T (p.Thr38=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 882241	NM_182914.3(SYNE2):c.114G>A (p.Thr38=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436874	NM_182914.3(SYNE2):c.124A>G (p.Asn42Asp)	SYNE2 (N42D)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 565720	NM_182914.3(SYNE2):c.128C>T (p.Ser43Leu)	SYNE2 (S43L)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2728870	NM_182914.3(SYNE2):c.129A>T (p.Ser43=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 1994915	NM_182914.3(SYNE2):c.140G>A (p.Arg47Lys)	SYNE2 (R47K)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2163590	NM_182914.3(SYNE2):c.141+12A>C	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 2160415	NM_182914.3(SYNE2):c.141+18A>G	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 1252131	NM_182914.3(SYNE2):c.142-278A>C	SYNE2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 197390	NM_182914.3(SYNE2):c.142C>T (p.His48Tyr)	SYNE2 (H48Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 470935	NM_182914.3(SYNE2):c.144C>T (p.His48=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 1406473	NM_182914.3(SYNE2):c.146C>G (p.Thr49Ser)	SYNE2 (T49S)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 1973778	NM_182914.3(SYNE2):c.147T>C (p.Thr49=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 705670	NM_182914.3(SYNE2):c.165C>T (p.Ser55=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GBenign
Select item 2570880	NM_182914.3(SYNE2):c.166G>A (p.Asp56Asn)	SYNE2 (D56N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 282835	NM_182914.3(SYNE2):c.169C>T (p.Leu57=)	SYNE2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 706838	NM_182914.3(SYNE2):c.183T>C (p.Ile61=)	SYNE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 970571	NM_182914.3(SYNE2):c.199C>T (p.Leu67Phe)	SYNE2 (L67F)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2644277	NM_182914.3(SYNE2):c.201C>T (p.Leu67=)	SYNE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 281851	NM_182914.3(SYNE2):c.204G>A (p.Leu68=)	SYNE2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1528497	NM_182914.3(SYNE2):c.207T>C (p.Asp69=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 2971793	NM_182914.3(SYNE2):c.237+6A>T	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 380714	NM_182914.3(SYNE2):c.237+6A>G	SYNE2	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2882842	NM_182914.3(SYNE2):c.237+20C>A	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 653291	NM_182914.3(SYNE2):c.238C>T (p.Pro80Ser)	SYNE2 (P80S)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 999802	NM_182914.3(SYNE2):c.241C>T (p.Arg81Trp)	SYNE2 (R81W)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 1436924	NM_182914.3(SYNE2):c.242G>A (p.Arg81Gln)	SYNE2 (R81Q)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2904405	NM_182914.3(SYNE2):c.256A>G (p.Asn86Asp)	SYNE2 (N86D)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 1362917	NM_182914.3(SYNE2):c.262T>C (p.Phe88Leu)	SYNE2 (F88L)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 1538694	NM_182914.3(SYNE2):c.276C>T (p.Ile92=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GBenign
Select item 313483	NM_182914.3(SYNE2):c.280A>G (p.Ile94Val)	SYNE2 (I94V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 882242	NM_182914.3(SYNE2):c.287A>G (p.His96Arg)	SYNE2 (H96R)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2715198	NM_182914.3(SYNE2):c.288T>C (p.His96=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 2000547	NM_182914.3(SYNE2):c.290C>G (p.Ala97Gly)	SYNE2 (A97G)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 962148	NM_182914.3(SYNE2):c.296C>G (p.Thr99Arg)	SYNE2 (T99R)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 3013727	NM_182914.3(SYNE2):c.297A>G (p.Thr99=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 771649	NM_182914.3(SYNE2):c.303A>G (p.Leu101=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant +1 more	GConflicting classifications of pathogenicity
Select item 2269942	NM_182914.3(SYNE2):c.311G>A (p.Arg104Gln)	SYNE2 (R104Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1620325	NM_182914.3(SYNE2):c.315+20A>C	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 1296180	NM_182914.3(SYNE2):c.316-21C>T	SYNE2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1673629	NM_182914.3(SYNE2):c.316-11T>C	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 1056775	NM_182914.3(SYNE2):c.316-2A>G	SYNE2	Single nucleotide variant (splice acceptor variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2030698	NM_182914.3(SYNE2):c.330_333del (p.Ile111fs)	SYNE2 (I111fs)	Deletion (frameshift variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 1497299	NM_182914.3(SYNE2):c.332T>C (p.Ile111Thr)	SYNE2 (I111T)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2738330	NM_182914.3(SYNE2):c.339T>A (p.Val113=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 313484	NM_182914.3(SYNE2):c.353A>T (p.Asp118Val)	SYNE2 (D118V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 706808	NM_182914.3(SYNE2):c.354T>C (p.Asp118=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 644185	NM_182914.3(SYNE2):c.358A>C (p.Asn120His)	SYNE2 (N120H)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436896	NM_182914.3(SYNE2):c.359A>G (p.Asn120Ser)	SYNE2 (N120S)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2436797	NM_182914.3(SYNE2):c.361C>A (p.Pro121Thr)	SYNE2 (P121T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1085505	NM_182914.3(SYNE2):c.381A>G (p.Leu127=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign
Select item 1626587	NM_182914.3(SYNE2):c.397C>T (p.Leu133=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GBenign
Select item 130496	NM_182914.3(SYNE2):c.399G>C (p.Leu133=)	SYNE2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1091789	NM_182914.3(SYNE2):c.402C>T (p.His134=)	SYNE2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GLikely benign

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