18587[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 155274	GRCh38/hg38 7p22.3(chr7:45130-1298050)x1	ADAP1, C7orf50 +102 more	Copy number loss	See cases	GUncertain significance
Select item 155108	GRCh38/hg38 7p22.3-22.2(chr7:45130-3406236)x3	ADAP1, AMZ1 +246 more	Copy number gain	See cases	GUncertain significance
Select item 149320	GRCh38/hg38 7p22.3(chr7:45130-821632)x1	LOC101929756, LOC105375113 +45 more	Copy number loss	See cases	GUncertain significance
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 148450	GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3	ACTB, ADAP1 +439 more	Copy number gain	See cases	GPathogenic
Select item 59675	GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3	BRAT1, ACTB +381 more	Copy number gain	See cases	GPathogenic
Select item 58492	GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1	ACTB, ADAP1 +357 more	Copy number loss	See cases	GPathogenic
Select item 154928	GRCh38/hg38 7p22.3-22.2(chr7:54165-3258775)x1	LOC126859917, LOC126859918 +245 more	Copy number loss	See cases	GPathogenic
Select item 160967	GRCh38/hg38 7p22.3(chr7:54185-1843584)x1	ADAP1, C7orf50 +140 more	Copy number loss	See cases	GPathogenic
Select item 148079	GRCh38/hg38 7p22.3(chr7:54185-1331046)x1	LOC129997768, LOC132089513 +102 more	Copy number loss	See cases	GUncertain significance
Select item 147625	GRCh38/hg38 7p22.3-22.2(chr7:54185-3324143)x1	ADAP1, AMZ1 +246 more	Copy number loss	See cases	GPathogenic
Select item 147563	GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3	ACTB, ADAP1 +418 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 144710	GRCh38/hg38 7p22.3(chr7:54185-1206119)x3	ADAP1, C7orf50 +97 more	Copy number gain	See cases	GUncertain significance
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 58496	GRCh38/hg38 7p22.3(chr7:54185-1441125)x1	ADAP1, C7orf50 +108 more	Copy number loss	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 32434	GRCh38/hg38 7p22.3(chr7:54185-1843584)x1	ADAP1, C7orf50 +140 more	Copy number loss	See cases	GPathogenic
Select item 152911	GRCh38/hg38 7p22.3(chr7:689554-854872)x3	DNAAF5, LOC123924885 +15 more	Copy number gain	See cases	GUncertain significance
Select item 149269	GRCh38/hg38 7p22.3(chr7:689554-2031521)x3	ADAP1, C7orf50 +117 more	Copy number gain	See cases	GUncertain significance
Select item 147514	GRCh38/hg38 7p22.3(chr7:791215-1993065)x3	ADAP1, C7orf50 +105 more	Copy number gain	See cases	GUncertain significance
Select item 1263462	NM_025154.6(SUN1):c.-74+1042A>G	SUN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252919	NM_025154.6(SUN1):c.-73-6335T>C	LOC126859921, SUN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1018759	NM_001130965.3(SUN1):c.5A>C (p.Asp2Ala)	LOC126859921, SUN1 (D23A +1 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2150946	NM_001130965.3(SUN1):c.7T>C (p.Phe3Leu)	LOC126859921, SUN1 (F3L +1 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy +1 more	GUncertain significance
Select item 568660	NM_001130965.3(SUN1):c.13C>T (p.Arg5Trp)	SUN1, LOC126859921 (R5W +1 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2200956	NM_001130965.3(SUN1):c.14G>A (p.Arg5Gln)	LOC126859921, SUN1 (R26Q +1 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 572823	NM_001130965.3(SUN1):c.16C>A (p.Leu6Ile)	LOC126859921, SUN1 (L6I +1 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1979894	NM_001130965.3(SUN1):c.19C>T (p.His7Tyr)	LOC126859921, SUN1 (H28Y +1 more)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance
Select item 461657	NM_001130965.3(SUN1):c.23T>C (p.Met8Thr)	LOC126859921, SUN1 (M8T +1 more)	Single nucleotide variant (missense variant +3 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 639362	NM_001130965.3(SUN1):c.29G>A (p.Ser10Asn)	LOC126859921, SUN1 (S10N +1 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1564665	NM_001130965.3(SUN1):c.42T>C (p.Cys14=)	LOC126859921, SUN1	Single nucleotide variant (synonymous variant +3 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 530821	NM_001130965.3(SUN1):c.48G>A (p.Pro16=)	LOC126859921, SUN1	Single nucleotide variant (synonymous variant +3 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 766880	NM_001130965.3(SUN1):c.69T>C (p.Tyr23=)	LOC126859921, SUN1	Single nucleotide variant (synonymous variant +3 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2958155	NM_001130965.3(SUN1):c.71C>T (p.Ala24Val)	LOC126859921, SUN1 (A24V +1 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1583226	NM_001130965.3(SUN1):c.72G>A (p.Ala24=)	LOC126859921, SUN1	Single nucleotide variant (synonymous variant +3 more)	not provided +1 more	GLikely benign
Select item 1487189	NM_001130965.3(SUN1):c.77+1del	LOC126859921, SUN1	Deletion (intron variant +1 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 934524	NM_001130965.3(SUN1):c.77+1G>A	LOC126859921, SUN1	Single nucleotide variant (splice donor variant +1 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2051637	NM_001130965.3(SUN1):c.77+12C>T	LOC126859921, SUN1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2071341	NM_001130965.3(SUN1):c.77+13C>T	LOC126859921, SUN1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 1589741	NM_001130965.3(SUN1):c.77+17A>T	LOC126859921, SUN1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GBenign
Select item 2732012	NM_001130965.3(SUN1):c.77+18C>T	LOC126859921, SUN1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2015805	NM_001130965.3(SUN1):c.78-19A>G	SUN1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1535852	NM_001130965.3(SUN1):c.78-15G>A	SUN1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 461669	NM_001130965.3(SUN1):c.78-4C>T	SUN1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GBenign
Select item 461668	NM_001130965.3(SUN1):c.78-3T>C	SUN1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GBenign
Select item 2727705	NM_001130965.3(SUN1):c.94G>A (p.Asp32Asn)	SUN1 (D32N +2 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 461639	NM_001130965.3(SUN1):c.114G>A (p.Thr38=)	SUN1	Single nucleotide variant (synonymous variant +3 more)	not provided +1 more	GBenign
Select item 2047545	NM_001130965.3(SUN1):c.120C>G (p.His40Gln)	SUN1 (H113Q +2 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2193067	NM_001130965.3(SUN1):c.129C>T (p.Asp43=)	SUN1	Single nucleotide variant (synonymous variant +3 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 1085088	NM_001130965.3(SUN1):c.132T>A (p.Pro44=)	SUN1	Single nucleotide variant (synonymous variant +3 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 943140	NM_001130965.3(SUN1):c.148C>T (p.Arg50Trp)	SUN1 (R50W +2 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2733620	NM_001130965.3(SUN1):c.149G>A (p.Arg50Gln)	SUN1 (R71Q +2 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2704597	NM_001130965.3(SUN1):c.157C>T (p.Arg53Cys)	SUN1 (R53C +3 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2419511	NM_001130965.3(SUN1):c.160C>T (p.Arg54Cys)	SUN1 (R127C +3 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 583170	NM_001130965.3(SUN1):c.161G>A (p.Arg54His)	SUN1 (R54H +3 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 647532	NM_001130965.3(SUN1):c.163A>G (p.Ser55Gly)	SUN1 (S128G +3 more)	Single nucleotide variant (missense variant +3 more)	not specified +1 more	GUncertain significance
Select item 2076016	NM_001130965.3(SUN1):c.169C>T (p.Arg57Cys)	SUN1 (R130C +3 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy +1 more	GUncertain significance
Select item 2079334	NM_001130965.3(SUN1):c.170G>A (p.Arg57His)	SUN1 (R130H +3 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1140270	NM_001130965.3(SUN1):c.174G>C (p.Leu58=)	SUN1	Single nucleotide variant (synonymous variant +3 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 1621190	NM_001130965.3(SUN1):c.177C>T (p.Ala59=)	SUN1	Single nucleotide variant (synonymous variant +3 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 847938	NM_001130965.3(SUN1):c.179C>T (p.Thr60Met)	SUN1 (T81M +3 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy +1 more	GUncertain significance
Select item 1585505	NM_001130965.3(SUN1):c.180G>A (p.Thr60=)	SUN1	Single nucleotide variant (synonymous variant +3 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2197361	NM_001130965.3(SUN1):c.185C>T (p.Ala62Val)	SUN1 (A135V +3 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2604980	NM_001130965.3(SUN1):c.188G>T (p.Cys63Phe)	SUN1 (C136F +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 838727	NM_001130965.3(SUN1):c.189C>T (p.Cys63=)	SUN1	Single nucleotide variant (synonymous variant +3 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1561434	NM_001130965.3(SUN1):c.193C>T (p.Leu65=)	SUN1	Single nucleotide variant (synonymous variant +3 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 1480382	NM_001130965.3(SUN1):c.200A>T (p.Asp67Val)	SUN1 (D88V +3 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1169231	NM_001130965.3(SUN1):c.203G>A (p.Gly68Asp)	SUN1 (G141D +3 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy	GBenign
Select item 1914297	NM_001130965.3(SUN1):c.219C>T (p.Ala73=)	SUN1	Single nucleotide variant (synonymous variant +3 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 461651	NM_001130965.3(SUN1):c.220G>A (p.Asp74Asn)	SUN1 (D74N +3 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1530443	NM_001130965.3(SUN1):c.225C>T (p.Ser75=)	SUN1	Single nucleotide variant (synonymous variant +3 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 1433425	NM_001130965.3(SUN1):c.226G>A (p.Gly76Ser)	SUN1 (G97S +3 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 461655	NM_001130965.3(SUN1):c.226G>T (p.Gly76Cys)	SUN1 (G76C +3 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy	GBenign
Select item 705673	NM_001130965.3(SUN1):c.227G>C (p.Gly76Ala)	SUN1 (G149A +3 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 1052100	NM_001130965.3(SUN1):c.233G>A (p.Ser78Asn)	SUN1 (S151N +3 more)	Single nucleotide variant (missense variant +3 more)	not specified +1 more	GUncertain significance
Select item 461656	NM_001130965.3(SUN1):c.235A>G (p.Ser79Gly)	SUN1 (S79G +3 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy +1 more	GLikely benign
Select item 1001133	NM_001130965.3(SUN1):c.238G>A (p.Ala80Thr)	SUN1 (A101T +3 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2827892	NM_001130965.3(SUN1):c.240T>C (p.Ala80=)	SUN1	Single nucleotide variant (synonymous variant +3 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2916738	NM_001130965.3(SUN1):c.241G>C (p.Val81Leu)	SUN1 (V31L +3 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 856663	NM_001130965.3(SUN1):c.241G>A (p.Val81Ile)	SUN1 (V154I +3 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1125248	NM_001130965.3(SUN1):c.243C>T (p.Val81=)	SUN1	Single nucleotide variant (synonymous variant +3 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2956297	NM_001130965.3(SUN1):c.251A>G (p.Lys84Arg)	SUN1 (K34R +3 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1916103	NM_001130965.3(SUN1):c.254A>T (p.Asn85Ile)	SUN1 (N158I +3 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1364476	NM_001130965.3(SUN1):c.257G>A (p.Arg86Gln)	SUN1 (R107Q +3 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 703907	NM_001130965.3(SUN1):c.257G>C (p.Arg86Pro)	SUN1 (R36P +3 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy	GBenign
Select item 2710888	NM_001130965.3(SUN1):c.258A>G (p.Arg86=)	SUN1	Single nucleotide variant (synonymous variant +3 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 1051305	NM_001130965.3(SUN1):c.260C>T (p.Ala87Val)	SUN1 (A108V +3 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2728930	NM_001130965.3(SUN1):c.261G>A (p.Ala87=)	SUN1	Single nucleotide variant (synonymous variant +3 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 1542207	NM_001130965.3(SUN1):c.266+10G>A	SUN1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2011152	NM_001130965.3(SUN1):c.266+19C>G	SUN1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2157581	NM_001130965.3(SUN1):c.266+20C>T	SUN1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 1253189	NM_001130965.3(SUN1):c.266+144T>C	SUN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242468	NM_001130965.3(SUN1):c.267-194G>A	SUN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1598663	NM_001130965.3(SUN1):c.267-9dup	SUN1	Duplication (intron variant)	Emery-Dreifuss muscular dystrophy	GBenign
Select item 2908976	NM_001130965.3(SUN1):c.267-9del	SUN1	Deletion (intron variant)	Emery-Dreifuss muscular dystrophy	GBenign
Select item 1538081	NM_001130965.3(SUN1):c.267-17T>G	SUN1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 1531628	NM_001130965.3(SUN1):c.267-16T>G	SUN1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign

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