Related gene-specific medical variations for Gene (Select 2099) - ClinVar

Links from Gene

Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3036280	NM_182961.4(SYNE1):c.26154-2615C>G	ESR1, SYNE1 (K292N)	Single nucleotide variant (missense variant +1 more)	ESR1-related condition	GLikely benign
Select item 2937660	NM_182961.4(SYNE1):c.26325C>G (p.Ala8775=)	ESR1, SYNE1	Single nucleotide variant (3 prime UTR variant +2 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 2933119	NM_182961.4(SYNE1):c.26172C>T (p.Ser8724=)	SYNE1, ESR1 (R907*)	Single nucleotide variant (nonsense +2 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 2657000	NM_182961.4(SYNE1):c.26277C>T (p.Ile8759=)	ESR1, SYNE1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2436693	NM_182961.4(SYNE1):c.26288G>A (p.Cys8763Tyr)	ESR1, SYNE1 (C8715Y +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2436645	NM_182961.4(SYNE1):c.26344C>G (p.Arg8782Gly)	ESR1, SYNE1 (R8734G +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2436635	NM_182961.4(SYNE1):c.26192C>T (p.Pro8731Leu)	ESR1, SYNE1 (P8683L +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2436576	NM_182961.4(SYNE1):c.26311G>A (p.Asp8771Asn)	ESR1, SYNE1 (D8723N +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2436544	NM_182961.4(SYNE1):c.26384C>T (p.Pro8795Leu)	ESR1, SYNE1 (P8747L +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2178485	NM_182961.4(SYNE1):c.26154-9T>C	ESR1, SYNE1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 2057948	NM_182961.4(SYNE1):c.26308G>A (p.Glu8770Lys)	ESR1, SYNE1 (E8770K +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GUncertain significance
Select item 1965519	NM_182961.4(SYNE1):c.26154-16T>A	ESR1, SYNE1	Single nucleotide variant (intron variant)	Autosomal recessive ataxia, Beauce type +1 more	GLikely benign
Select item 1807208	NM_182961.4(SYNE1):c.26158A>T (p.Thr8720Ser)	ESR1, SYNE1 (H902L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1807197	NM_182961.4(SYNE1):c.26267T>C (p.Leu8756Pro)	ESR1, SYNE1 (L8708P +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1807171	NM_182961.4(SYNE1):c.26242G>C (p.Ala8748Pro)	ESR1, SYNE1 (A8700P +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1553663	NM_182961.4(SYNE1):c.26241A>G (p.Ala8747=)	ESR1, SYNE1	Single nucleotide variant (3 prime UTR variant +2 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 1513254	NM_182961.4(SYNE1):c.26266CTC[2] (p.Leu8758del)	ESR1, SYNE1 (L8710del +2 more)	Microsatellite (3 prime UTR variant +2 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GUncertain significance
Select item 1471881	NM_182961.4(SYNE1):c.26210G>T (p.Gly8737Val)	SYNE1, ESR1 (G915V +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GUncertain significance
Select item 1440876	NM_182961.4(SYNE1):c.26285C>T (p.Ala8762Val)	ESR1, SYNE1 (A940V +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GUncertain significance
Select item 1425327	NM_182961.4(SYNE1):c.26213G>A (p.Arg8738His)	ESR1, SYNE1 (R8738H +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GUncertain significance
Select item 1415617	NM_182961.4(SYNE1):c.26352C>A (p.Phe8784Leu)	ESR1, SYNE1 (F962L +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GUncertain significance
Select item 1216137	NM_182961.4(SYNE1):c.*281G>A	ESR1, SYNE1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1182727	NM_182961.4(SYNE1):c.26154-249G>A	ESR1, SYNE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1150698	NM_182961.4(SYNE1):c.26208C>T (p.Ser8736=)	ESR1, SYNE1	Single nucleotide variant (3 prime UTR variant +2 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 1132452	NM_182961.4(SYNE1):c.26391C>T (p.Leu8797=)	ESR1, SYNE1	Single nucleotide variant (3 prime UTR variant +2 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 1077449	NM_182961.4(SYNE1):c.26376T>C (p.Asn8792=)	ESR1, SYNE1	Single nucleotide variant (3 prime UTR variant +2 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 1057430	NM_182961.4(SYNE1):c.26213del (p.Arg8738fs)	ESR1, SYNE1 (R8690fs +2 more)	Deletion (3 prime UTR variant +2 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GUncertain significance
Select item 1047425	NM_182961.4(SYNE1):c.26375A>G (p.Asn8792Ser)	ESR1, SYNE1 (N8744S +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GUncertain significance
Select item 1042408	NM_182961.4(SYNE1):c.26154-10C>A	ESR1, SYNE1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 1033002	NM_182961.4(SYNE1):c.26154-2590C>G	SYNE1, ESR1 (G284A)	Single nucleotide variant (missense variant +1 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	GUncertain significance
Select item 1024748	NM_182961.4(SYNE1):c.26215G>A (p.Gly8739Ser)	ESR1, SYNE1 (G8691S +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GUncertain significance
Select item 962272	NM_182961.4(SYNE1):c.26279G>A (p.Gly8760Glu)	ESR1, SYNE1 (G938E +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GUncertain significance
Select item 907044	NM_182961.4(SYNE1):c.*166G>A	ESR1, SYNE1	Single nucleotide variant (3 prime UTR variant +1 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GUncertain significance
Select item 907043	NM_182961.4(SYNE1):c.*181C>T	ESR1, SYNE1	Single nucleotide variant (3 prime UTR variant +1 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GUncertain significance
Select item 907042	NM_182961.4(SYNE1):c.*186G>A	ESR1, SYNE1	Single nucleotide variant (3 prime UTR variant +1 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GUncertain significance
Select item 906025	NM_182961.4(SYNE1):c.*368T>C	ESR1, SYNE1	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive ataxia, Beauce type +1 more	GUncertain significance
Select item 905516	NM_182961.4(SYNE1):c.*449T>A	ESR1, SYNE1	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive ataxia, Beauce type +1 more	GUncertain significance
Select item 904795	NM_182961.4(SYNE1):c.*138A>G	SYNE1, ESR1	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive ataxia, Beauce type +1 more	GUncertain significance
Select item 863040	NM_182961.4(SYNE1):c.26362C>T (p.Leu8788Phe)	SYNE1, ESR1 (L8788F +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GUncertain significance
Select item 860559	NM_182961.4(SYNE1):c.26278G>A (p.Gly8760Arg)	ESR1, SYNE1 (G8712R +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Autosomal recessive ataxia, Beauce type +1 more	GUncertain significance
Select item 775974	NM_182961.4(SYNE1):c.26214C>T (p.Arg8738=)	ESR1, SYNE1	Single nucleotide variant (3 prime UTR variant +2 more)	Autosomal recessive ataxia, Beauce type +1 more	GLikely benign
Select item 765040	NM_182961.4(SYNE1):c.26196G>T (p.Gly8732=)	ESR1, SYNE1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 708220	NM_182961.4(SYNE1):c.26154-10C>T	ESR1, SYNE1	Single nucleotide variant (intron variant)	Autosomal recessive ataxia, Beauce type +1 more	GLikely benign
Select item 688350	GRCh37/hg19 6q25.1(chr6:152017744-152031586)x1	ESR1	Copy number loss	not provided	GUncertain significance
Select item 662547	NM_182961.4(SYNE1):c.26177C>T (p.Ser8726Phe)	ESR1, SYNE1 (S8678F +2 more)	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive ataxia, Beauce type +1 more	GUncertain significance
Select item 644985	NM_182961.4(SYNE1):c.26180C>T (p.Ser8727Phe)	ESR1, SYNE1 (S8679F +2 more)	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive ataxia, Beauce type +1 more	GUncertain significance
Select item 635787	NM_182961.4(SYNE1):c.26236C>T (p.Arg8746Ter)	ESR1, SYNE1 (R8746* +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Arthrogryposis multiplex congenita 3, myogenic type	GPathogenic
Select item 596072	NM_182961.4(SYNE1):c.26204G>T (p.Arg8735Leu)	ESR1, SYNE1 (R8735L +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Autosomal recessive ataxia, Beauce type +2 more	GUncertain significance
Select item 593818	NM_182961.4(SYNE1):c.26372C>A (p.Thr8791Lys)	ESR1, SYNE1 (T8791K +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GUncertain significance
Select item 538421	NM_182961.4(SYNE1):c.26373G>A (p.Thr8791=)	ESR1, SYNE1	Single nucleotide variant (3 prime UTR variant +2 more)	Autosomal recessive ataxia, Beauce type +1 more	GLikely benign
Select item 538400	NM_182961.4(SYNE1):c.26195G>A (p.Gly8732Glu)	ESR1, SYNE1 (G8684E +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Autosomal recessive ataxia, Beauce type +1 more	GUncertain significance
Select item 502729	NM_182961.4(SYNE1):c.26301G>A (p.Met8767Ile)	ESR1, SYNE1 (M8719I +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 502164	NM_182961.4(SYNE1):c.26372C>T (p.Thr8791Met)	SYNE1, ESR1 (T8743M +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GUncertain significance
Select item 500362	NM_182961.4(SYNE1):c.26237G>A (p.Arg8746Gln)	ESR1, SYNE1 (R8698Q +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GUncertain significance
Select item 499024	NM_182961.4(SYNE1):c.26345G>A (p.Arg8782Gln)	ESR1, SYNE1 (R8734Q +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GUncertain significance
Select item 471041	NM_182961.4(SYNE1):c.26207C>A (p.Ser8736Tyr)	ESR1, SYNE1 (S8736Y +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Autosomal recessive ataxia, Beauce type +1 more	GUncertain significance
Select item 448595	NM_182961.4(SYNE1):c.26330C>G (p.Ser8777Cys)	SYNE1, ESR1 (S8729C +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GUncertain significance
Select item 436903	NM_182961.4(SYNE1):c.26272C>G (p.Leu8758Val)	SYNE1, ESR1 (L8710V +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +1 more	GUncertain significance
Select item 376206	NM_000125.4(ESR1):c.1138G>C (p.Glu380Gln)	ESR1 (E380Q +3 more)	Single nucleotide variant (missense variant)	Breast neoplasm	GLikely pathogenic
Select item 375937	NM_000125.4(ESR1):c.1607T>G (p.Leu536Arg)	ESR1 (L536R +2 more)	Single nucleotide variant (missense variant +2 more)	Breast neoplasm	GPathogenic
Select item 375936	NM_000125.4(ESR1):c.1604C>A (p.Pro535His)	ESR1 (P535H +2 more)	Single nucleotide variant (missense variant +2 more)	Breast neoplasm	GPathogenic
Select item 375935	NM_000125.4(ESR1):c.1601T>A (p.Val534Glu)	ESR1 (V534E +2 more)	Single nucleotide variant (missense variant +2 more)	Breast neoplasm	GPathogenic
Select item 375934	NM_000125.4(ESR1):c.1387T>C (p.Ser463Pro)	ESR1 (S463P +2 more)	Single nucleotide variant (missense variant +1 more)	Breast neoplasm	GPathogenic
Select item 355806	NM_182961.4(SYNE1):c.*95C>T	ESR1, SYNE1	Single nucleotide variant (3 prime UTR variant +1 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GBenign/Likely benign
Select item 355805	NM_182961.4(SYNE1):c.*101C>T	ESR1, SYNE1	Single nucleotide variant (3 prime UTR variant +1 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GUncertain significance
Select item 355804	NM_182961.4(SYNE1):c.*103C>A	ESR1, SYNE1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 355803	NM_182961.4(SYNE1):c.*182G>A	ESR1, SYNE1	Single nucleotide variant (3 prime UTR variant +1 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GBenign
Select item 355802	NM_182961.4(SYNE1):c.*191A>G	ESR1, SYNE1	Single nucleotide variant (3 prime UTR variant +1 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 355801	NM_182961.4(SYNE1):c.*295T>C	ESR1, SYNE1	Single nucleotide variant (3 prime UTR variant +1 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GUncertain significance
Select item 355800	NM_182961.4(SYNE1):c.*433A>G	ESR1, SYNE1	Single nucleotide variant (3 prime UTR variant +1 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GUncertain significance
Select item 355799	NM_182961.4(SYNE1):c.*449T>C	ESR1, SYNE1	Single nucleotide variant (3 prime UTR variant +1 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GUncertain significance
Select item 355798	NM_182961.4(SYNE1):c.*515T>C	ESR1, SYNE1	Single nucleotide variant (3 prime UTR variant +1 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GUncertain significance
Select item 355797	NM_182961.4(SYNE1):c.*580del	ESR1, SYNE1	Deletion (3 prime UTR variant +1 more)	Emery-Dreifuss muscular dystrophy +1 more	GUncertain significance
Select item 355796	NM_182961.4(SYNE1):c.*583A>G	ESR1, SYNE1	Single nucleotide variant (3 prime UTR variant +1 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GBenign
Select item 355795	NM_182961.4(SYNE1):c.666_667del	ESR1, SYNE1	Deletion (3 prime UTR variant +1 more)	Cerebellar ataxia +1 more	GBenign
Select item 355794	NM_182961.4(SYNE1):c.*667del	ESR1, SYNE1	Deletion (3 prime UTR variant +1 more)	Emery-Dreifuss muscular dystrophy +1 more	GUncertain significance
Select item 289958	NM_182961.4(SYNE1):c.26206T>G (p.Ser8736Ala)	ESR1, SYNE1 (S8688A +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 288507	NM_182961.4(SYNE1):c.26173G>A (p.Asp8725Asn)	ESR1, SYNE1 (D8677N +3 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive ataxia, Beauce type +2 more	GUncertain significance
Select item 285052	NM_182961.4(SYNE1):c.26298A>G (p.Pro8766=)	ESR1, SYNE1	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive ataxia, Beauce type +3 more	GBenign/Likely benign
Select item 284514	NM_182961.4(SYNE1):c.26370C>A (p.Tyr8790Ter)	ESR1, SYNE1 (Y8742* +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 283646	NM_182961.4(SYNE1):c.26355C>T (p.His8785=)	ESR1, SYNE1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 282665	NM_182961.4(SYNE1):c.26212C>T (p.Arg8738Cys)	ESR1, SYNE1 (R8690C +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 130436	NM_182961.4(SYNE1):c.26221C>A (p.Leu8741Met)	SYNE1, ESR1 (L8693M +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +3 more	GBenign
Select item 130435	NM_182961.4(SYNE1):c.26209G>A (p.Gly8737Ser)	SYNE1, ESR1 (G8689S +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GBenign
Select item 130434	NM_182961.4(SYNE1):c.26204G>A (p.Arg8735Gln)	SYNE1, ESR1 (R8687Q +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GBenign

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Items: 89