"GeneDx"[submitter] AND "SUN1"[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 58496	GRCh38/hg38 7p22.3(chr7:54185-1441125)x1	ADAP1, C7orf50 +108 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 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 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 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 1165168	NM_001130965.3(SUN1):c.352C>T (p.His118Tyr)	SUN1 (H118Y +4 more)	Single nucleotide variant (missense variant +2 more)	Emery-Dreifuss muscular dystrophy +1 more	GBenign
Select item 1286647	NM_001130965.3(SUN1):c.451+91C>T	SUN1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy +1 more	GBenign
Select item 1249887	NM_001130965.3(SUN1):c.452-3del	SUN1	Deletion (intron variant)	Emery-Dreifuss muscular dystrophy +1 more	GBenign
Select item 1245508	NM_001130965.3(SUN1):c.478+26C>G	SUN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 461662	NM_001130965.3(SUN1):c.606C>T (p.Pro202=)	SUN1 (P50L)	Single nucleotide variant (synonymous variant +4 more)	not provided +1 more	GBenign
Select item 1288971	NM_001130965.3(SUN1):c.658+121A>G	SUN1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1257600	NM_001130965.3(SUN1):c.659-43T>C	SUN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174266	NM_001130965.3(SUN1):c.757+66_757+68dup	SUN1	Duplication (intron variant)	not provided	GBenign
Select item 1255075	NM_001130965.3(SUN1):c.911-31C>A	SUN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225779	NM_001130965.3(SUN1):c.1053+192A>G	SUN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265928	NM_001130965.3(SUN1):c.1054-157A>G	SUN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178520	NM_001130965.3(SUN1):c.1054-144C>T	SUN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283371	NM_001130965.3(SUN1):c.1263+42G>C	SUN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247307	NM_001130965.3(SUN1):c.1263+152G>A	SUN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276161	NM_001130965.3(SUN1):c.1264-135T>C	SUN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228011	NM_001130965.3(SUN1):c.1350+187T>C	SUN1	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 1256765	NM_001130965.3(SUN1):c.1351-67A>G	SUN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237734	NM_001130965.3(SUN1):c.1394+104C>T	SUN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175471	NM_001130965.3(SUN1):c.1394+205G>A	SUN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1170262	NM_001130965.3(SUN1):c.1422A>G (p.Thr474=)	SUN1	Single nucleotide variant (synonymous variant +1 more)	Emery-Dreifuss muscular dystrophy +1 more	GBenign
Select item 1170347	NM_001130965.3(SUN1):c.1426G>A (p.Glu476Lys)	SUN1 (E238K +50 more)	Single nucleotide variant (missense variant +1 more)	Emery-Dreifuss muscular dystrophy +1 more	GBenign
Select item 1280833	NM_001130965.3(SUN1):c.1524+190C>T	SUN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268530	NM_001130965.3(SUN1):c.1525-178A>G	SUN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278975	NM_001130965.3(SUN1):c.1525-55A>C	SUN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252108	NM_001130965.3(SUN1):c.1779+16G>A	SUN1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy +1 more	GBenign
Select item 1267860	NM_001130965.3(SUN1):c.1779+146G>A	SUN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280582	NM_001130965.3(SUN1):c.1780-112C>G	SUN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231902	NM_001130965.3(SUN1):c.1780-58C>T	SUN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270415	NM_001130965.3(SUN1):c.1865-171T>C	SUN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177981	NM_001130965.3(SUN1):c.1980+82A>G	SUN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275423	NM_001130965.3(SUN1):c.1980+118G>C	SUN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288781	NM_001130965.3(SUN1):c.1980+160G>C	SUN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 152395	GRCh38/hg38 7p22.3(chr7:866937-948487)x3	ADAP1, GET4 +16 more	Copy number gain	See cases	GBenign
Select item 461646	NM_001130965.3(SUN1):c.2043G>A (p.Arg681=)	SUN1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1271637	NM_001130965.3(SUN1):c.2148+99G>A	SUN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239505	NM_001130965.3(SUN1):c.2148+197T>C	SUN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290127	NM_001130965.3(SUN1):c.2242-200A>G	SUN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263158	NM_001130965.3(SUN1):c.2242-132T>A	SUN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238430	NM_001130965.3(SUN1):c.2242-97C>T	SUN1	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 48