3188[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	LOC130006570, LOC130006571 +474 more	Copy number loss	See cases	GPathogenic
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 150919	GRCh38/hg38 11q14.1-14.2(chr11:84765986-86641166)x3	CCDC81, CCDC83 +51 more	Copy number gain	See cases	GUncertain significance
Select item 144652	GRCh38/hg38 11q14.1-14.2(chr11:84828513-86641208)x3	CCDC81, CCDC83 +50 more	Copy number gain	See cases	GUncertain significance
Select item 160941	GRCh38/hg38 11q14.1-14.2(chr11:84828563-86641166)x3	CCDC81, CCDC83 +50 more	Copy number gain	See cases	GUncertain significance
Select item 33851	GRCh38/hg38 11q14.1-14.2(chr11:84828563-86641166)x3	CCDC81, CCDC83 +50 more	Copy number gain	See cases	GUncertain significance
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 3239287	NM_003797.5(EED):c.-125G>T	EED	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 3250894	NM_003797.5(EED):c.-124G>C	EED	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 2642248	NM_003797.5(EED):c.-85G>A	EED	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 2642249	NM_003797.5(EED):c.-13G>A	EED	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1975108	NM_003797.5(EED):c.4T>C (p.Ser2Pro)	EED (S2P)	Single nucleotide variant (missense variant)	Cohen-Gibson syndrome	GUncertain significance
Select item 2150434	NM_003797.5(EED):c.6C>T (p.Ser2=)	EED	Single nucleotide variant (synonymous variant)	Cohen-Gibson syndrome	GLikely benign
Select item 845923	NM_003797.5(EED):c.9G>T (p.Glu3Asp)	EED (E3D)	Single nucleotide variant (missense variant)	Cohen-Gibson syndrome	GUncertain significance
Select item 2073893	NM_003797.5(EED):c.11G>T (p.Arg4Met)	EED (R4M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1011488	NM_003797.5(EED):c.11G>A (p.Arg4Lys)	EED (R4K)	Single nucleotide variant (missense variant)	Cohen-Gibson syndrome	GUncertain significance
Select item 2297917	NM_003797.5(EED):c.12G>T (p.Arg4Ser)	EED (R4S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321868	NM_003797.5(EED):c.14A>G (p.Glu5Gly)	EED (E5G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258652	NM_003797.5(EED):c.16G>A (p.Val6Met)	EED (V6M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1484426	NM_003797.5(EED):c.17T>C (p.Val6Ala)	EED (V6A)	Single nucleotide variant (missense variant)	Cohen-Gibson syndrome	GUncertain significance
Select item 718341	NM_003797.5(EED):c.27G>A (p.Ala9=)	EED	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1987507	NM_003797.5(EED):c.36A>G (p.Gly12=)	EED	Single nucleotide variant (synonymous variant)	Cohen-Gibson syndrome	GLikely benign
Select item 2511935	NM_003797.5(EED):c.43A>G (p.Met15Val)	EED (M15V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1475446	NM_003797.5(EED):c.44T>G (p.Met15Arg)	EED (M15R)	Single nucleotide variant (missense variant)	Cohen-Gibson syndrome	GUncertain significance
Select item 979180	NM_003797.5(EED):c.50C>T (p.Ala17Val)	EED (A17V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 931185	NM_003797.5(EED):c.73A>G (p.Ser25Gly)	EED (S25G)	Single nucleotide variant (missense variant)	Cohen-Gibson syndrome	GUncertain significance
Select item 1130122	NM_003797.5(EED):c.78C>T (p.Asp26=)	EED	Single nucleotide variant (synonymous variant)	Cohen-Gibson syndrome +1 more	GLikely benign
Select item 2642250	NM_003797.5(EED):c.81G>A (p.Glu27=)	EED	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 796895	NM_003797.5(EED):c.96C>T (p.Asp32=)	EED	Single nucleotide variant (synonymous variant)	Cohen-Gibson syndrome	GLikely benign
Select item 2848984	NM_003797.5(EED):c.114+4A>C	EED	Single nucleotide variant (intron variant)	Cohen-Gibson syndrome	GUncertain significance
Select item 2815193	NM_003797.5(EED):c.114+18C>T	EED	Single nucleotide variant (intron variant)	Cohen-Gibson syndrome	GBenign
Select item 1226792	NM_003797.5(EED):c.115-172C>T	EED	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3336037	NM_003797.5(EED):c.122C>T (p.Ala41Val)	EED (A41V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403367	NM_003797.5(EED):c.130A>G (p.Ile44Val)	EED (I44V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 798256	NM_003797.5(EED):c.148A>C (p.Thr50Pro)	EED (T50P)	Single nucleotide variant (missense variant)	Cohen-Gibson syndrome +1 more	GLikely benign
Select item 981848	NM_003797.5(EED):c.154C>T (p.Arg52Cys)	EED (R52C)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 1547660	NM_003797.5(EED):c.177G>A (p.Thr59=)	EED	Single nucleotide variant (synonymous variant)	Cohen-Gibson syndrome	GLikely benign
Select item 2636438	NM_003797.5(EED):c.184G>A (p.Ala62Thr)	EED (A62T)	Single nucleotide variant (missense variant)	EED-related disorder	GUncertain significance
Select item 544590	NM_003797.5(EED):c.198A>G (p.Lys66=)	EED	Single nucleotide variant (synonymous variant)	Cohen-Gibson syndrome +1 more	GLikely benign
Select item 2141107	NM_003797.5(EED):c.216A>G (p.Lys72=)	EED	Single nucleotide variant (synonymous variant)	Cohen-Gibson syndrome	GLikely benign
Select item 2048619	NM_003797.5(EED):c.264C>T (p.Leu88=)	EED	Single nucleotide variant (synonymous variant)	Cohen-Gibson syndrome	GBenign
Select item 2701927	NM_003797.5(EED):c.266del (p.Lys89fs)	EED (K89fs)	Deletion (frameshift variant)	Cohen-Gibson syndrome	GUncertain significance
Select item 1969264	NM_003797.5(EED):c.267+20C>G	EED	Single nucleotide variant (intron variant)	Cohen-Gibson syndrome	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 2778555	NM_003797.5(EED):c.268-7_268-3del	EED	Deletion (intron variant)	Cohen-Gibson syndrome	GLikely benign
Select item 1499255	NM_003797.5(EED):c.268-3T>C	EED	Single nucleotide variant (intron variant)	Cohen-Gibson syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3257951	NM_003797.5(EED):c.287del (p.Leu96fs)	EED (L96fs)	Deletion (frameshift variant)	Neoplasm	OLikely oncogenic
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 1586293	NM_003797.5(EED):c.361-19G>A	EED	Single nucleotide variant (intron variant)	Cohen-Gibson syndrome	GLikely benign
Select item 2230140	NM_003797.5(EED):c.379C>T (p.His127Tyr)	EED (H127Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1487012	NM_003797.5(EED):c.397C>T (p.Arg133Trp)	EED (R133W)	Single nucleotide variant (missense variant)	Cohen-Gibson syndrome	GUncertain significance
Select item 2642251	NM_003797.5(EED):c.399G>C (p.Arg133=)	EED	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 577275	NM_003797.5(EED):c.438C>G (p.Asn146Lys)	EED (N146K)	Single nucleotide variant (missense variant)	Cohen-Gibson syndrome	GUncertain significance
Select item 745616	NM_003797.5(EED):c.441T>C (p.Phe147=)	EED	Single nucleotide variant (synonymous variant)	Cohen-Gibson syndrome	GLikely benign
Select item 1456715	NM_003797.5(EED):c.477C>T (p.Ser159=)	EED	Single nucleotide variant (synonymous variant)	Cohen-Gibson syndrome	GLikely benign
Select item 3087234	NM_003797.5(EED):c.522A>G (p.Ile174Met)	EED (I174M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 971694	NM_003797.5(EED):c.532A>G (p.Ile178Val)	EED (I178V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 2963369	NM_003797.5(EED):c.552+4G>A	EED	Single nucleotide variant (intron variant)	Cohen-Gibson syndrome	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 3045352	NM_003797.5(EED):c.557A>G (p.Tyr186Cys)	EED (Y186C)	Single nucleotide variant (missense variant)	EED-related disorder	GUncertain significance
Select item 3087235	NM_003797.5(EED):c.577A>G (p.Ile193Val)	EED (I193V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2631004	NM_003797.5(EED):c.647G>A (p.Arg216Gln)	EED (R216Q)	Single nucleotide variant (missense variant)	EED-related disorder	GUncertain significance
Select item 2642252	NM_003797.5(EED):c.697G>A (p.Glu233Lys)	EED (E233K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 430646	NM_003797.5(EED):c.707G>C (p.Arg236Thr)	EED (R236T)	Single nucleotide variant (missense variant)	Cohen-Gibson syndrome	GPathogenic
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 2854403	NM_003797.5(EED):c.726T>C (p.Ala242=)	EED	Single nucleotide variant (synonymous variant)	Cohen-Gibson syndrome	GUncertain significance
Select item 2723527	NM_003797.5(EED):c.726+19G>A	EED	Single nucleotide variant (intron variant)	Cohen-Gibson syndrome	GLikely benign
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 738984	NM_003797.5(EED):c.727-6A>G	EED	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2429866	NM_003797.5(EED):c.767T>C (p.Met256Thr)	EED (M256T)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	GLikely pathogenic
Select item 430644	NM_003797.5(EED):c.772C>T (p.His258Tyr)	EED (H258Y)	Single nucleotide variant (missense variant +1 more)	Cohen-Gibson syndrome	GPathogenic
Select item 800180	NM_003797.5(EED):c.820A>G (p.Ile274Val)	EED (I274V)	Single nucleotide variant (missense variant +1 more)	Cohen-Gibson syndrome	GLikely benign
Select item 2642253	NM_003797.5(EED):c.847A>C (p.Asn283His)	EED (N283H)	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 3349455	NM_003797.5(EED):c.861-10C>T	EED	Single nucleotide variant (intron variant)	EED-related disorder	GLikely benign
Select item 659525	NM_003797.5(EED):c.880A>G (p.Ile294Val)	EED (I294V)	Single nucleotide variant (missense variant +1 more)	Cohen-Gibson syndrome	GUncertain significance
Select item 2181647	NM_003797.5(EED):c.882C>A (p.Ile294=)	EED	Single nucleotide variant (synonymous variant +1 more)	Cohen-Gibson syndrome	GLikely benign
Select item 430645	NM_003797.5(EED):c.904A>G (p.Arg302Gly)	EED (R302G)	Single nucleotide variant (missense variant +1 more)	Cohen-Gibson syndrome	GPathogenic
Select item 430643	NM_003797.5(EED):c.906A>C (p.Arg302Ser)	EED (R302S)	Single nucleotide variant (missense variant +1 more)	Cohen-Gibson syndrome	GPathogenic
Select item 2848299	NM_003797.5(EED):c.923A>G (p.Tyr308Cys)	EED (Y308C)	Single nucleotide variant (missense variant +1 more)	Cohen-Gibson syndrome	GPathogenic
Select item 1918020	NM_003797.5(EED):c.930T>C (p.Asp310=)	EED	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2038730	NM_003797.5(EED):c.966+19A>C	EED	Single nucleotide variant (intron variant)	Cohen-Gibson syndrome	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

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