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

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Search results

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	See cases	GPathogenic
Select item 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 1273600	NC_000011.10:g.86244421G>C	EED	Single nucleotide variant	not provided	GBenign
Select item 1226792	NM_003797.5(EED):c.115-172C>T	EED	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283198	NM_003797.5(EED):c.267+141del	EED	Deletion (intron variant)	not provided	GBenign
Select item 1257217	NM_003797.5(EED):c.267+156G>A	EED	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222272	NM_003797.5(EED):c.268-43G>A	EED	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3252390	NM_003797.5(EED):c.340G>T (p.Ala114Ser)	EED (A114S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1226326	NM_003797.5(EED):c.361-87G>T	EED	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1712682	NM_003797.5(EED):c.380A>G (p.His127Arg)	EED (H127R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580807	NM_003797.5(EED):c.408A>T (p.Gln136His)	EED (Q136H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1254778	NM_003797.5(EED):c.427-131A>G	EED	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1306350	NM_003797.5(EED):c.550A>C (p.Lys184Gln)	EED (K184Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1279124	NM_003797.5(EED):c.552+155G>A	EED	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224767	NM_003797.5(EED):c.553-192C>T	EED	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263293	NM_003797.5(EED):c.553-157del	EED	Deletion (intron variant)	not provided	GBenign
Select item 1699191	NM_003797.5(EED):c.581A>G (p.Asn194Ser)	EED (N194S)	Single nucleotide variant (missense variant)	Cohen-Gibson syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1165047	NM_003797.5(EED):c.619C>T (p.Leu207=)	EED	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1183550	NM_003797.5(EED):c.634+114G>C	EED	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3364572	NM_003797.5(EED):c.724G>T (p.Ala242Ser)	EED (A242S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1277971	NM_003797.5(EED):c.726+177TATT[5]	EED	Microsatellite (intron variant)	not provided	GBenign
Select item 1169958	NM_003797.5(EED):c.727-8G>A	EED	Single nucleotide variant (intron variant)	Cohen-Gibson syndrome +1 more	GBenign
Select item 1303707	NM_003797.5(EED):c.749A>C (p.Lys250Thr)	EED (K250T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1229256	NM_003797.5(EED):c.861-228T>G	EED	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267143	NM_003797.5(EED):c.966+34GT[21]	EED	Microsatellite (intron variant)	not provided	GBenign
Select item 1242282	NM_003797.5(EED):c.966+34GT[18]	EED	Microsatellite (intron variant)	not provided	GBenign
Select item 1228803	NM_003797.5(EED):c.966+34GT[17]	EED	Microsatellite (intron variant)	not provided	GBenign
Select item 1182612	NM_003797.5(EED):c.966+34GT[19]	EED	Microsatellite (intron variant)	not provided	GBenign
Select item 1181384	NM_003797.5(EED):c.966+34GT[20]	EED	Microsatellite (intron variant)	not provided	GBenign
Select item 1269986	NM_003797.5(EED):c.966+34GT[15]	EED	Microsatellite (intron variant)	not provided	GBenign
Select item 1258235	NM_003797.5(EED):c.966+66A>G	EED	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265732	NM_003797.5(EED):c.966+75C>T	EED	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264112	NM_003797.5(EED):c.967-204A>C	EED	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1712540	NM_003797.5(EED):c.1076G>T (p.Ser359Ile)	EED (S279I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1878843	NM_003797.5(EED):c.1101G>T (p.Arg367Ser)	EED (R287S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361939	NM_003797.5(EED):c.1126A>T (p.Met376Leu)	EED (M296L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 36