ClinVar for MedGen (Select 1386939) - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359045	NM_003797.5(EED):c.689G>C (p.Gly230Ala)	EED (G230A)	Single nucleotide variant (missense variant)	Cohen-Gibson syndrome	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 2864066	NM_003797.5(EED):c.1018A>G (p.Ile340Val)	EED (I365V +2 more)	Single nucleotide variant (missense variant)	Cohen-Gibson syndrome	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 2848984	NM_003797.5(EED):c.114+4A>C	EED	Single nucleotide variant (intron variant)	Cohen-Gibson syndrome	GUncertain significance
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 2817389	NM_003797.5(EED):c.969T>A (p.Ser323=)	EED	Single nucleotide variant (synonymous variant)	Cohen-Gibson syndrome	GLikely benign
Select item 2815193	NM_003797.5(EED):c.114+18C>T	EED	Single nucleotide variant (intron variant)	Cohen-Gibson syndrome	GBenign
Select item 2778555	NM_003797.5(EED):c.268-7_268-3del	EED	Deletion (intron variant)	Cohen-Gibson syndrome	GLikely benign
Select item 2723527	NM_003797.5(EED):c.726+19G>A	EED	Single nucleotide variant (intron variant)	Cohen-Gibson syndrome	GLikely benign
Select item 2701927	NM_003797.5(EED):c.266del (p.Lys89fs)	EED (K89fs)	Deletion (frameshift variant)	Cohen-Gibson syndrome	GUncertain significance
Select item 2416296	NM_003797.5(EED):c.1242A>G (p.Arg414=)	EED	Single nucleotide variant (synonymous variant)	Cohen-Gibson syndrome	GLikely benign
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 2150434	NM_003797.5(EED):c.6C>T (p.Ser2=)	EED	Single nucleotide variant (synonymous variant)	Cohen-Gibson syndrome	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 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 2048619	NM_003797.5(EED):c.264C>T (p.Leu88=)	EED	Single nucleotide variant (synonymous variant)	Cohen-Gibson syndrome	GBenign
Select item 2038730	NM_003797.5(EED):c.966+19A>C	EED	Single nucleotide variant (intron variant)	Cohen-Gibson syndrome	GBenign
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 1975108	NM_003797.5(EED):c.4T>C (p.Ser2Pro)	EED (S2P)	Single nucleotide variant (missense 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 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 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 1662574	NM_003797.5(EED):c.1257C>T (p.Ser419=)	EED	Single nucleotide variant (synonymous variant)	Cohen-Gibson syndrome	GLikely benign
Select item 1586293	NM_003797.5(EED):c.361-19G>A	EED	Single nucleotide variant (intron variant)	Cohen-Gibson syndrome	GLikely benign
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 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 1487012	NM_003797.5(EED):c.397C>T (p.Arg133Trp)	EED (R133W)	Single nucleotide variant (missense variant)	Cohen-Gibson syndrome	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 1475446	NM_003797.5(EED):c.44T>G (p.Met15Arg)	EED (M15R)	Single nucleotide variant (missense variant)	Cohen-Gibson syndrome	GUncertain significance
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 1169958	NM_003797.5(EED):c.727-8G>A	EED	Single nucleotide variant (intron variant)	Cohen-Gibson syndrome +1 more	GBenign
Select item 1168387	NM_003797.5(EED):c.1275T>C (p.Leu425=)	EED	Single nucleotide variant (synonymous variant)	Cohen-Gibson syndrome	GBenign
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 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 1011488	NM_003797.5(EED):c.11G>A (p.Arg4Lys)	EED (R4K)	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 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 931185	NM_003797.5(EED):c.73A>G (p.Ser25Gly)	EED (S25G)	Single nucleotide variant (missense variant)	Cohen-Gibson syndrome	GUncertain significance
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 802712	NM_003797.5(EED):c.1133C>T (p.Ala378Val)	EED (A378V +2 more)	Single nucleotide variant (missense variant)	Cohen-Gibson syndrome	GLikely pathogenic
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 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 796895	NM_003797.5(EED):c.96C>T (p.Asp32=)	EED	Single nucleotide variant (synonymous variant)	Cohen-Gibson syndrome	GLikely benign
Select item 772140	NM_003797.5(EED):c.1199+8_1199+11del	EED	Deletion (intron variant)	not provided +1 more	GBenign
Select item 766911	NM_003797.5(EED):c.1199+10T>C	EED	Single nucleotide variant (intron variant)	Cohen-Gibson syndrome	GBenign
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 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 584435	NM_003797.5(EED):c.1097T>C (p.Met366Thr)	EED (M366T +2 more)	Single nucleotide variant (missense variant)	Cohen-Gibson syndrome	GLikely pathogenic
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 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 478372	NM_003797.5(EED):c.1062G>A (p.Gly354=)	EED	Single nucleotide variant (synonymous variant)	Cohen-Gibson syndrome	GBenign
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 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 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 430643	NM_003797.5(EED):c.906A>C (p.Arg302Ser)	EED (R302S)	Single nucleotide variant (missense variant +1 more)	Cohen-Gibson syndrome	GPathogenic

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Links from MedGen

Items: 56