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

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1236945	NM_001293298.2(CEMIP):c.94+78G>C	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270884	NM_001293298.2(CEMIP):c.94+168G>A	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281219	NM_001293298.2(CEMIP):c.95-131G>A	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268997	NM_001293298.2(CEMIP):c.242-267G>C	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274620	NM_001293298.2(CEMIP):c.242-144A>G	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 585660	NM_001293298.2(CEMIP):c.249G>A (p.Leu83=)	CEMIP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1286337	NM_001293298.2(CEMIP):c.381-273A>G	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244735	NM_001293298.2(CEMIP):c.381-263C>T	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243666	NM_001293298.2(CEMIP):c.797+26C>G	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263938	NM_001293298.2(CEMIP):c.798-159G>A	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256956	NM_001293298.2(CEMIP):c.798-109G>T	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244515	NM_001293298.2(CEMIP):c.798-87C>T	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248787	NM_001293298.2(CEMIP):c.869-61G>A	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261718	NM_001293298.2(CEMIP):c.964+256C>T	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261494	NM_001293298.2(CEMIP):c.1086+82T>A	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245636	NM_001293298.2(CEMIP):c.1087-239G>A	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258084	NM_001293298.2(CEMIP):c.1412-76G>A	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289446	NM_001293298.2(CEMIP):c.1587+57A>G	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265369	NM_001293298.2(CEMIP):c.1587+79G>A	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232009	NM_001293298.2(CEMIP):c.1587+182del	CEMIP	Deletion (intron variant)	not provided	GBenign
Select item 1246734	NM_001293298.2(CEMIP):c.1797+102T>C	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243830	NM_001293298.2(CEMIP):c.1798-267del	CEMIP	Deletion (intron variant)	not provided	GBenign
Select item 1246244	NM_001293298.2(CEMIP):c.1884T>C (p.Cys628=)	CEMIP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1286475	NM_001293298.2(CEMIP):c.1971G>A (p.Pro657=)	CEMIP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1275594	NM_001293298.2(CEMIP):c.2074-72G>A	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283512	NM_001293298.2(CEMIP):c.2202+133A>C	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181132	NM_001293298.2(CEMIP):c.2203-143G>T	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263880	NM_001293298.2(CEMIP):c.2289-117C>T	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 804683	NM_001293298.2(CEMIP):c.2348A>G (p.His783Arg)	CEMIP (H783R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1254564	NM_001293298.2(CEMIP):c.2420+195A>G	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270971	NM_001293298.2(CEMIP):c.2420+210T>C	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232480	NM_001293298.2(CEMIP):c.2612+256T>C	CEMIP, LOC126862194	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253156	NM_001293298.2(CEMIP):c.3221+208C>T	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289780	NM_001293298.2(CEMIP):c.3222-225G>A	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276758	NM_001293298.2(CEMIP):c.3222-185T>C	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231840	NM_001293298.2(CEMIP):c.3699+63C>G	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237398	NM_001293298.2(CEMIP):c.3699+156C>T	CEMIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268091	NM_001293298.2(CEMIP):c.3858-310C>T	CEMIP, MESD	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1283387	NM_001293298.2(CEMIP):c.3858-208T>C	CEMIP, MESD	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 1225089	NM_001293298.2(CEMIP):c.3958+221C>T	CEMIP, MESD	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1248114	NM_001293298.2(CEMIP):c.3958+306A>G	CEMIP, MESD	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1243745	NM_001293298.2(CEMIP):c.3959-321A>G	CEMIP, MESD	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1262356	NM_001293298.2(CEMIP):c.3959-77T>C	CEMIP, MESD	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 44