ClinVar for MedGen (Select 860487) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2994186	NM_133459.4(CCBE1):c.322C>T (p.Arg108Ter)	CCBE1 (R108*)	Single nucleotide variant (nonsense)	Hennekam lymphangiectasia-lymphedema syndrome 1 +1 more	GPathogenic
Select item 2671794	NM_133459.4(CCBE1):c.140G>C (p.Cys47Ser)	CCBE1 (C47S)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 2664931	NM_133459.4(CCBE1):c.2T>G (p.Met1Arg)	CCBE1 (M1R)	Single nucleotide variant (missense variant +1 more)	Renal tubular acidosis, distal, 4, with hemolytic anemia +1 more	GUncertain significance
Select item 1525144	NM_133459.4(CCBE1):c.654+5G>C	CCBE1	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1383536	NM_133459.4(CCBE1):c.664C>T (p.Leu222Phe)	CCBE1 (L222F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1192652	NM_133459.4(CCBE1):c.266-63G>T	CCBE1	Single nucleotide variant (intron variant)	Hennekam lymphangiectasia-lymphedema syndrome 1 +2 more	GBenign
Select item 1192624	NM_133459.4(CCBE1):c.775+82A>G	CCBE1	Single nucleotide variant (intron variant)	Hennekam lymphangiectasia-lymphedema syndrome 1 +2 more	GBenign
Select item 1192623	NM_133459.4(CCBE1):c.776-164G>A	CCBE1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1031118	NM_133459.4(CCBE1):c.901C>T (p.Arg301Trp)	CCBE1 (R301W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1031117	NM_133459.4(CCBE1):c.845G>A (p.Arg282Gln)	CCBE1 (R282Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1031116	NM_133459.4(CCBE1):c.274G>A (p.Val92Ile)	CCBE1 (V92I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 892100	NM_133459.4(CCBE1):c.373C>T (p.Arg125Trp)	CCBE1 (R125W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 892099	NM_133459.4(CCBE1):c.380G>A (p.Arg127Gln)	CCBE1 (R127Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 892098	NM_133459.4(CCBE1):c.460T>G (p.Leu154Val)	CCBE1 (L154V)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 892097	NM_133459.4(CCBE1):c.545A>T (p.Asn182Ile)	CCBE1 (N182I)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 892063	NM_133459.4(CCBE1):c.1079G>A (p.Arg360Gln)	CCBE1 (R360Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 892062	NM_133459.4(CCBE1):c.1148T>C (p.Leu383Pro)	CCBE1 (L383P)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 1 +1 more	GUncertain significance
Select item 892061	NM_133459.4(CCBE1):c.*20G>A	CCBE1	Single nucleotide variant (3 prime UTR variant)	CCBE1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 892060	NM_133459.4(CCBE1):c.*126G>A	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 892017	NM_133459.4(CCBE1):c.*1257T>C	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 892016	NM_133459.4(CCBE1):c.*1401G>C	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 892015	NM_133459.4(CCBE1):c.*1489G>T	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 891973	NM_133459.4(CCBE1):c.*2340T>C	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 891929	NM_133459.4(CCBE1):c.*3182T>G	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GLikely benign
Select item 891928	NM_133459.4(CCBE1):c.*3231G>A	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 891927	NM_133459.4(CCBE1):c.*3239G>C	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 891926	NM_133459.4(CCBE1):c.*3430T>C	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 891871	NM_133459.4(CCBE1):c.*4525T>C	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 891870	NM_133459.4(CCBE1):c.*4710G>A	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 891869	NM_133459.4(CCBE1):c.*4738G>A	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 891603	NM_133459.4(CCBE1):c.*4755A>C	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 890866	NM_133459.4(CCBE1):c.552T>C (p.Thr184=)	CCBE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 890865	NM_133459.4(CCBE1):c.557A>G (p.His186Arg)	CCBE1 (H186R)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 890864	NM_133459.4(CCBE1):c.671A>G (p.Asn224Ser)	CCBE1 (N224S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 890863	NM_133459.4(CCBE1):c.733C>G (p.Leu245Val)	CCBE1 (L245V)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 890825	NM_133459.4(CCBE1):c.*182C>A	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 890824	NM_133459.4(CCBE1):c.*203A>G	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 890823	NM_133459.4(CCBE1):c.*504T>C	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 890777	NM_133459.4(CCBE1):c.*1724C>T	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 890776	NM_133459.4(CCBE1):c.*1861C>T	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 890734	NM_133459.4(CCBE1):c.*2389C>G	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 890733	NM_133459.4(CCBE1):c.*2411C>T	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 890732	NM_133459.4(CCBE1):c.*2635A>G	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 890731	NM_133459.4(CCBE1):c.*2728A>G	CCBE1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 890679	NM_133459.4(CCBE1):c.*3704C>A	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 890678	NM_133459.4(CCBE1):c.*3777A>T	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GBenign
Select item 890677	NM_133459.4(CCBE1):c.*3800G>A	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 890676	NM_133459.4(CCBE1):c.*3801G>A	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 890360	NM_133459.4(CCBE1):c.-27G>T	CCBE1	Single nucleotide variant (5 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 890359	NM_133459.4(CCBE1):c.60G>C (p.Leu20=)	CCBE1	Single nucleotide variant (synonymous variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 890358	NM_133459.4(CCBE1):c.83C>T (p.Ala28Val)	CCBE1 (A28V)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 890357	NM_133459.4(CCBE1):c.101C>A (p.Thr34Asn)	CCBE1 (T34N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 890302	NM_133459.4(CCBE1):c.810C>T (p.Pro270=)	CCBE1	Single nucleotide variant (synonymous variant)	Hennekam lymphangiectasia-lymphedema syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 890301	NM_133459.4(CCBE1):c.853A>G (p.Met285Val)	CCBE1 (M285V)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 1 +1 more	GUncertain significance
Select item 890300	NM_133459.4(CCBE1):c.869C>T (p.Pro290Leu)	CCBE1 (P290L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 890299	NM_133459.4(CCBE1):c.902G>A (p.Arg301Gln)	CCBE1 (R301Q)	Single nucleotide variant (missense variant)	CCBE1-related condition +3 more	GUncertain significance
Select item 890255	NM_133459.4(CCBE1):c.*781A>T	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 890203	NM_133459.4(CCBE1):c.*1969A>G	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GBenign
Select item 890100	NM_133459.4(CCBE1):c.*3809C>T	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 890099	NM_133459.4(CCBE1):c.*3853C>T	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GLikely benign
Select item 890098	NM_133459.4(CCBE1):c.*3862G>A	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 890097	NM_133459.4(CCBE1):c.*3922T>A	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 890056	NM_133459.4(CCBE1):c.*4818G>A	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 890055	NM_133459.4(CCBE1):c.*4877C>G	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 890054	NM_133459.4(CCBE1):c.*4934G>T	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1 +1 more	GLikely benign
Select item 889610	NM_133459.4(CCBE1):c.*938G>T	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 889609	NM_133459.4(CCBE1):c.*1021T>A	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 889608	NM_133459.4(CCBE1):c.*1190C>T	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 889544	NM_133459.4(CCBE1):c.*2121C>T	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 889483	NM_133459.4(CCBE1):c.*2953C>A	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 889482	NM_133459.4(CCBE1):c.*3147T>C	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 889423	NM_133459.4(CCBE1):c.*3931G>A	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GLikely benign
Select item 889422	NM_133459.4(CCBE1):c.*4173A>G	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 889421	NM_133459.4(CCBE1):c.*4215A>T	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 889420	NM_133459.4(CCBE1):c.*4282G>A	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 888656	NM_133459.4(CCBE1):c.131+10G>A	CCBE1	Single nucleotide variant (intron variant)	Hennekam lymphangiectasia-lymphedema syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 888655	NM_133459.4(CCBE1):c.171C>T (p.Tyr57=)	CCBE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 888654	NM_133459.4(CCBE1):c.259C>T (p.Pro87Ser)	CCBE1 (P87S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 888653	NM_133459.4(CCBE1):c.287C>G (p.Ala96Gly)	CCBE1 (A96G)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 1 +1 more	GUncertain significance
Select item 888652	NM_133459.4(CCBE1):c.342T>C (p.Tyr114=)	CCBE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 888601	NM_133459.4(CCBE1):c.1000T>G (p.Ser334Ala)	CCBE1 (S334A)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 888600	NM_133459.4(CCBE1):c.1003T>C (p.Phe335Leu)	CCBE1 (F335L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 888599	NM_133459.4(CCBE1):c.1036C>T (p.Arg346Cys)	CCBE1 (R346C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 888598	NM_133459.4(CCBE1):c.1052A>G (p.Glu351Gly)	CCBE1 (E351G)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 888597	NM_133459.4(CCBE1):c.1064A>C (p.Lys355Thr)	CCBE1 (K355T)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 811360	NM_133459.4(CCBE1):c.966G>A (p.Ala322=)	CCBE1	Single nucleotide variant (synonymous variant)	Hennekam lymphangiectasia-lymphedema syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 803505	NM_133459.4(CCBE1):c.266-104C>T	CCBE1	Single nucleotide variant (intron variant)	Hennekam lymphangiectasia-lymphedema syndrome 1 +2 more	GBenign
Select item 774935	NM_133459.4(CCBE1):c.195G>A (p.Glu65=)	CCBE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 762247	NM_133459.4(CCBE1):c.519A>G (p.Thr173=)	CCBE1	Single nucleotide variant (synonymous variant)	Hennekam lymphangiectasia-lymphedema syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 758115	NM_133459.4(CCBE1):c.1163A>G (p.Asp388Gly)	CCBE1 (D388G)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 735571	NM_133459.4(CCBE1):c.843A>T (p.Pro281=)	CCBE1	Single nucleotide variant (synonymous variant)	CCBE1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 720411	NM_133459.4(CCBE1):c.1017A>G (p.Leu339=)	CCBE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 631807	NM_133459.4(CCBE1):c.916-2A>G	CCBE1	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 625905	NM_133459.4(CCBE1):c.260C>A (p.Pro87Gln)	CCBE1 (P87Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 598540	NM_001291303.3(FAT4):c.9235A>G (p.Ile3079Val)	FAT4 (I3079V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 587591	NM_001291303.3(FAT4):c.13399G>A (p.Val4467Met)	FAT4 (V4465M +2 more)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 1 +1 more	GUncertain significance
Select item 523012	NM_001291303.3(FAT4):c.913A>T (p.Ile305Phe)	FAT4 (I305F)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 515358	NM_133459.4(CCBE1):c.654+5G>A	CCBE1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 327711	NM_133459.4(CCBE1):c.-30G>C	CCBE1	Single nucleotide variant (5 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 327710	NM_133459.4(CCBE1):c.123C>A (p.Asp41Glu)	CCBE1 (D41E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign

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