ClinVar for MedGen (Select 816205) - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672197	NM_001291303.3(FAT4):c.13247T>A (p.Leu4416Gln)	FAT4 (L4414Q +2 more)	Single nucleotide variant (missense variant)	Van Maldergem syndrome 2	GUncertain significance
Select item 2584964	NM_001291303.3(FAT4):c.7114A>G (p.Thr2372Ala)	FAT4 (T2372A)	Single nucleotide variant (missense variant)	Van Maldergem syndrome 2	GUncertain significance
Select item 2500897	NM_001291303.3(FAT4):c.13582dup (p.Cys4528fs)	FAT4 (C4526fs +2 more)	Duplication (frameshift variant)	Van Maldergem syndrome 2	GUncertain significance
Select item 2442223	NM_001291303.3(FAT4):c.4143A>T (p.Glu1381Asp)	FAT4 (E1381D)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 2 +1 more	GUncertain significance
Select item 2413116	NM_001291303.3(FAT4):c.13178A>T (p.Asp4393Val)	FAT4 (D4391V +2 more)	Single nucleotide variant (missense variant)	Van Maldergem syndrome 2	GUncertain significance
Select item 2048342	NM_001291303.3(FAT4):c.3135C>T (p.Gly1045=)	FAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1911607	NM_001291303.3(FAT4):c.9517T>G (p.Trp3173Gly)	FAT4 (W3173G +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1805555	NM_001291303.3(FAT4):c.1489A>G (p.Ile497Val)	FAT4 (I497V)	Single nucleotide variant (missense variant)	Van Maldergem syndrome 2	GUncertain significance
Select item 1805552	NM_001291303.3(FAT4):c.1219T>C (p.Phe407Leu)	FAT4 (F407L)	Single nucleotide variant (missense variant)	Van Maldergem syndrome 2	GUncertain significance
Select item 1805515	NM_001291303.3(FAT4):c.2461G>C (p.Asp821His)	FAT4 (D821H)	Single nucleotide variant (missense variant)	Van Maldergem syndrome 2	GUncertain significance
Select item 1710358	NM_001291303.3(FAT4):c.6982G>T (p.Glu2328Ter)	FAT4 (E2328*)	Single nucleotide variant (nonsense)	Van Maldergem syndrome 2	GLikely pathogenic
Select item 1675077	NM_001291303.3(FAT4):c.8216C>A (p.Ser2739Tyr)	FAT4 (S2737Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1524487	NM_001291303.3(FAT4):c.5355T>G (p.Asp1785Glu)	FAT4 (D1785E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1498817	NM_001291303.3(FAT4):c.14273C>T (p.Pro4758Leu)	FAT4 (P4756L +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1496370	NM_001291303.3(FAT4):c.4081G>A (p.Gly1361Arg)	FAT4 (G1361R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1426097	NM_001291303.3(FAT4):c.8821A>G (p.Thr2941Ala)	FAT4 (T2941A +1 more)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 2 +2 more	GUncertain significance
Select item 1405083	NM_001291303.3(FAT4):c.10643A>G (p.Tyr3548Cys)	FAT4 (Y3546C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1285260	NM_001291303.3(FAT4):c.6843+29G>T	FAT4	Single nucleotide variant (intron variant)	Hennekam lymphangiectasia-lymphedema syndrome 2 +3 more	GBenign
Select item 1222490	NM_001291303.3(FAT4):c.7199+29T>G	FAT4	Single nucleotide variant (intron variant)	Hennekam lymphangiectasia-lymphedema syndrome 2 +3 more	GBenign
Select item 1199864	NM_001291303.3(FAT4):c.842C>T (p.Thr281Ile)	FAT4 (T281I)	Single nucleotide variant (missense variant)	FAT4-related condition +3 more	GBenign/Likely benign
Select item 1165453	NM_001291303.3(FAT4):c.9451G>A (p.Ala3151Thr)	FAT4 (A3149T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1064577	NM_001291303.3(FAT4):c.3738C>G (p.His1246Gln)	FAT4 (H1246Q)	Single nucleotide variant (missense variant)	Van Maldergem syndrome 2	GUncertain significance
Select item 1042598	NM_001291303.3(FAT4):c.1198G>T (p.Gly400Trp)	FAT4 (G400W)	Single nucleotide variant (missense variant)	Van Maldergem syndrome 2 +1 more	GUncertain significance
Select item 1035455	NM_001291303.3(FAT4):c.7312G>T (p.Val2438Phe)	FAT4 (V2436F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1028319	NM_001291303.3(FAT4):c.13402G>A (p.Val4468Met)	FAT4 (V4466M +2 more)	Single nucleotide variant (missense variant)	Van Maldergem syndrome 2	GUncertain significance
Select item 1028318	NM_001291303.3(FAT4):c.13385G>A (p.Arg4462Lys)	FAT4 (R4462K +2 more)	Single nucleotide variant (missense variant)	Van Maldergem syndrome 2	GUncertain significance
Select item 1027298	NM_001291303.3(FAT4):c.7466C>A (p.Ala2489Glu)	FAT4 (A2487E +1 more)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 2 +2 more	GUncertain significance
Select item 1012078	NM_001291303.3(FAT4):c.11260A>G (p.Ser3754Gly)	FAT4 (S3752G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 997989	NM_001291303.3(FAT4):c.7018+1G>A	FAT4	Single nucleotide variant (splice donor variant)	Van Maldergem syndrome 2	GPathogenic
Select item 813917	NM_001291303.3(FAT4):c.9313A>G (p.Ser3105Gly)	FAT4 (S3105G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 813916	NM_001291303.3(FAT4):c.9279A>C (p.Gln3093His)	FAT4 (Q3091H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 802086	NM_001291303.3(FAT4):c.3212T>C (p.Val1071Ala)	FAT4 (V1071A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 680458	NM_001291303.3(FAT4):c.14935G>A (p.Ala4979Thr)	FAT4 (A4977T +2 more)	Single nucleotide variant (missense variant)	Van Maldergem syndrome 2 +2 more	GLikely benign
Select item 680154	NM_001291303.3(FAT4):c.12822+28T>G	FAT4	Single nucleotide variant (intron variant)	Hennekam lymphangiectasia-lymphedema syndrome 2 +3 more	GBenign
Select item 679813	NM_001291303.3(FAT4):c.185G>C (p.Gly62Ala)	FAT4 (G62A)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 670933	NM_001291303.3(FAT4):c.2919C>T (p.Val973=)	FAT4	Single nucleotide variant (synonymous variant)	Van Maldergem syndrome 2 +2 more	GBenign
Select item 623344	NM_001291303.3(FAT4):c.11800+1G>T	FAT4	Single nucleotide variant (splice donor variant)	Van Maldergem syndrome 2	GPathogenic
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 522864	NM_001291303.3(FAT4):c.10560G>A (p.Met3520Ile)	FAT4 (M3520I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 522673	NM_001291303.3(FAT4):c.13525G>C (p.Ala4509Pro)	FAT4 (A4507P +2 more)	Single nucleotide variant (missense variant)	Van Maldergem syndrome 2	GUncertain significance
Select item 420323	NM_001291303.3(FAT4):c.8021A>T (p.Asp2674Val)	FAT4 (D2672V +1 more)	Single nucleotide variant (missense variant)	Van Maldergem syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 384624	NM_001291303.3(FAT4):c.1101A>G (p.Val367=)	FAT4	Single nucleotide variant (synonymous variant)	Hennekam lymphangiectasia-lymphedema syndrome 2 +3 more	GBenign/Likely benign
Select item 384298	NM_001291303.3(FAT4):c.8592G>A (p.Val2864=)	FAT4	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 380905	NM_001291303.3(FAT4):c.14361C>T (p.Val4787=)	FAT4	Single nucleotide variant (synonymous variant)	Van Maldergem syndrome 2 +3 more	GBenign/Likely benign
Select item 380813	NM_001291303.3(FAT4):c.10577G>A (p.Gly3526Asp)	FAT4 (G3524D +1 more)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 2 +3 more	GBenign
Select item 380812	NM_001291303.3(FAT4):c.1358A>T (p.Gln453Leu)	FAT4 (Q453L)	Single nucleotide variant (missense variant)	Van Maldergem syndrome 2 +3 more	GBenign
Select item 380809	NM_001291303.3(FAT4):c.13623G>A (p.Glu4541=)	FAT4	Single nucleotide variant (synonymous variant)	Van Maldergem syndrome 2 +3 more	GBenign
Select item 380802	NM_001291303.3(FAT4):c.14604A>G (p.Arg4868=)	FAT4	Single nucleotide variant (synonymous variant)	Van Maldergem syndrome 2 +3 more	GBenign
Select item 380799	NM_001291303.3(FAT4):c.12214-5C>T	FAT4	Single nucleotide variant (intron variant)	Van Maldergem syndrome 2 +3 more	GBenign
Select item 380797	NM_001291303.3(FAT4):c.11624G>A (p.Ser3875Asn)	FAT4 (S3873N +1 more)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 2 +3 more	GBenign
Select item 380795	NM_001291303.3(FAT4):c.7707G>C (p.Val2569=)	FAT4	Single nucleotide variant (synonymous variant)	Hennekam lymphangiectasia-lymphedema syndrome 2 +3 more	GBenign
Select item 380794	NM_001291303.3(FAT4):c.6585T>C (p.Asn2195=)	FAT4	Single nucleotide variant (synonymous variant)	Van Maldergem syndrome 2 +3 more	GBenign
Select item 380793	NM_001291303.3(FAT4):c.2944T>C (p.Leu982=)	FAT4	Single nucleotide variant (synonymous variant)	Van Maldergem syndrome 2 +3 more	GBenign
Select item 380329	NM_001291303.3(FAT4):c.2420C>T (p.Ala807Val)	FAT4 (A807V)	Single nucleotide variant (missense variant)	Van Maldergem syndrome 2 +3 more	GBenign
Select item 380250	NM_001291303.3(FAT4):c.5760T>C (p.Asp1920=)	FAT4	Single nucleotide variant (synonymous variant)	Hennekam lymphangiectasia-lymphedema syndrome 2 +3 more	GBenign
Select item 377855	NM_001291303.3(FAT4):c.4305C>T (p.Ile1435=)	FAT4	Single nucleotide variant (synonymous variant)	Van Maldergem syndrome 2 +3 more	GBenign
Select item 377311	NM_001291303.3(FAT4):c.10810A>C (p.Ile3604Leu)	FAT4 (I3604L +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 89009	NM_001291303.3(FAT4):c.11461C>T (p.Arg3821Ter)	FAT4 (R3819* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 89008	NM_001291303.3(FAT4):c.14518_14519del (p.Ser4840fs)	FAT4 (S4838fs +2 more)	Deletion (frameshift variant)	Van Maldergem syndrome 2	GPathogenic
Select item 89007	NM_001291303.3(FAT4):c.9487G>T (p.Glu3163Ter)	FAT4 (E3161* +1 more)	Single nucleotide variant (nonsense)	Van Maldergem syndrome 2	GPathogenic
Select item 89006	NM_001291303.3(FAT4):c.7123G>A (p.Glu2375Lys)	FAT4 (E2375K)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 2 +1 more	GPathogenic
Select item 89005	NM_001291303.3(FAT4):c.13199G>A (p.Cys4400Tyr)	FAT4 (C4398Y +2 more)	Single nucleotide variant (missense variant)	Van Maldergem syndrome 2	GPathogenic
Select item 89004	NM_001291303.3(FAT4):c.12482G>T (p.Cys4161Phe)	FAT4 (C4159F +1 more)	Single nucleotide variant (missense variant)	Van Maldergem syndrome 2	GPathogenic

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Items: 64