ClinVar for MedGen (Select 863376) - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3237433	NM_001291303.3(FAT4):c.2102A>G (p.Asn701Ser)	FAT4 (N701S)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 2	GUncertain significance
Select item 3237394	NM_001291303.3(FAT4):c.14120C>A (p.Pro4707His)	FAT4 (P4705H +2 more)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 2	GUncertain significance
Select item 3237392	NM_001291303.3(FAT4):c.9203A>G (p.Asn3068Ser)	FAT4 (N3066S +1 more)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 2	GUncertain significance
Select item 3237390	NM_001291303.3(FAT4):c.5914G>A (p.Asp1972Asn)	FAT4 (D1972N)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 2	GUncertain significance
Select item 3237388	NM_001291303.3(FAT4):c.14468G>A (p.Arg4823Lys)	FAT4 (R4821K +2 more)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 2	GUncertain significance
Select item 3237383	NM_001291303.3(FAT4):c.9964G>A (p.Val3322Met)	FAT4 (V3320M +1 more)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema 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 2419888	NM_001291303.3(FAT4):c.10483A>G (p.Ser3495Gly)	FAT4 (S3493G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2177175	NM_001291303.3(FAT4):c.11074C>T (p.His3692Tyr)	FAT4 (H3690Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2087017	NM_001291303.3(FAT4):c.3808A>C (p.Ile1270Leu)	FAT4 (I1270L)	Single nucleotide variant (missense variant)	not provided +1 more	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 1962486	NM_001291303.3(FAT4):c.14945_14946del (p.Tyr4982fs)	FAT4 (Y4981fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GUncertain significance
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 1703760	NM_001291303.3(FAT4):c.13588C>T (p.Gln4530Ter)	FAT4 (Q4528* +2 more)	Single nucleotide variant (nonsense)	Hennekam lymphangiectasia-lymphedema syndrome 2	GPathogenic
Select item 1700623	NM_001291303.3(FAT4):c.12479+3A>G	FAT4	Single nucleotide variant (intron variant)	Hennekam lymphangiectasia-lymphedema 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)	not provided +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)	Hennekam lymphangiectasia-lymphedema syndrome 2 +2 more	GUncertain significance
Select item 1496370	NM_001291303.3(FAT4):c.4081G>A (p.Gly1361Arg)	FAT4 (G1361R)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 2 +3 more	GUncertain significance
Select item 1467504	NM_001291303.3(FAT4):c.11134G>T (p.Asp3712Tyr)	FAT4 (D3712Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1445732	NM_001291303.3(FAT4):c.11039C>T (p.Thr3680Met)	FAT4 (T3678M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1433546	NM_001291303.3(FAT4):c.821C>T (p.Ala274Val)	FAT4 (A274V)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 2 +2 more	GUncertain significance
Select item 1426097	NM_001291303.3(FAT4):c.8821A>G (p.Thr2941Ala)	FAT4 (T2941A +1 more)	Single nucleotide variant (missense variant)	not provided +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 1395569	NM_001291303.3(FAT4):c.3470A>C (p.Asn1157Thr)	FAT4 (N1157T)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 2 +2 more	GUncertain significance
Select item 1365452	NM_001291303.3(FAT4):c.2824A>G (p.Ile942Val)	FAT4 (I942V)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 1357337	NM_001291303.3(FAT4):c.3637G>T (p.Asp1213Tyr)	FAT4 (D1213Y)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 1308468	NM_001291303.3(FAT4):c.7264A>T (p.Ser2422Cys)	FAT4 (S2420C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1307026	NM_001291303.3(FAT4):c.4228G>A (p.Val1410Met)	FAT4 (V1410M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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)	Van Maldergem syndrome 2 +3 more	GBenign
Select item 1199864	NM_001291303.3(FAT4):c.842C>T (p.Thr281Ile)	FAT4 (T281I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 +3 more	GConflicting classifications of pathogenicity
Select item 1035455	NM_001291303.3(FAT4):c.7312G>T (p.Val2438Phe)	FAT4 (V2436F +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1032176	NM_001291303.3(FAT4):c.8313T>C (p.Asn2771=)	FAT4	Single nucleotide variant (synonymous variant)	Hennekam lymphangiectasia-lymphedema syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 1031383	NM_001291303.3(FAT4):c.6515A>C (p.Asp2172Ala)	FAT4 (D2172A)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 2	GUncertain significance
Select item 1031382	NM_001291303.3(FAT4):c.5161A>G (p.Thr1721Ala)	FAT4 (T1721A)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 2	GUncertain significance
Select item 1031381	NM_001291303.3(FAT4):c.12085G>A (p.Ala4029Thr)	FAT4 (A4027T +1 more)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 1028323	NM_001291303.3(FAT4):c.9152C>A (p.Ser3051Tyr)	FAT4 (S3049Y +1 more)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 2 +1 more	GUncertain significance
Select item 1028322	NM_001291303.3(FAT4):c.8753A>G (p.Glu2918Gly)	FAT4 (E2918G +1 more)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 2	GUncertain significance
Select item 1028321	NM_001291303.3(FAT4):c.4432A>G (p.Ile1478Val)	FAT4 (I1478V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1028320	NM_001291303.3(FAT4):c.2290G>A (p.Val764Ile)	FAT4 (V764I)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 2 +1 more	GUncertain significance
Select item 1028317	NM_001291303.3(FAT4):c.11706T>G (p.Asp3902Glu)	FAT4 (D3900E +1 more)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema 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)	not provided +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)	Hennekam lymphangiectasia-lymphedema syndrome 2 +3 more	GConflicting classifications of pathogenicity
Select item 932020	NM_001291303.3(FAT4):c.14404C>T (p.Pro4802Ser)	FAT4 (P4800S +2 more)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 2	GUncertain significance
Select item 931780	NM_001291303.3(FAT4):c.5944A>G (p.Ser1982Gly)	FAT4 (S1982G)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 2	GUncertain significance
Select item 916196	NM_001291303.3(FAT4):c.4543G>A (p.Val1515Met)	FAT4 (V1515M)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 2 +1 more	GUncertain significance
Select item 813706	NM_001291303.3(FAT4):c.1012G>A (p.Glu338Lys)	FAT4 (E338K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 +2 more	GConflicting classifications of pathogenicity
Select item 670933	NM_001291303.3(FAT4):c.2919C>T (p.Val973=)	FAT4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
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 432221	NM_001291303.3(FAT4):c.12647G>A (p.Arg4216His)	FAT4 (R4214H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 426899	NM_001291303.3(FAT4):c.6094A>G (p.Thr2032Ala)	FAT4 (T2032A)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 424428	NM_001291303.3(FAT4):c.7103C>A (p.Ala2368Glu)	FAT4 (A2368E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 384624	NM_001291303.3(FAT4):c.1101A>G (p.Val367=)	FAT4	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 384298	NM_001291303.3(FAT4):c.8592G>A (p.Val2864=)	FAT4	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 380905	NM_001291303.3(FAT4):c.14361C>T (p.Val4787=)	FAT4	Single nucleotide variant (synonymous variant)	Hennekam lymphangiectasia-lymphedema 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)	Hennekam lymphangiectasia-lymphedema syndrome 2 +3 more	GBenign
Select item 380809	NM_001291303.3(FAT4):c.13623G>A (p.Glu4541=)	FAT4	Single nucleotide variant (synonymous variant)	Hennekam lymphangiectasia-lymphedema syndrome 2 +3 more	GBenign
Select item 380802	NM_001291303.3(FAT4):c.14604A>G (p.Arg4868=)	FAT4	Single nucleotide variant (synonymous variant)	Hennekam lymphangiectasia-lymphedema syndrome 2 +3 more	GBenign
Select item 380799	NM_001291303.3(FAT4):c.12214-5C>T	FAT4	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 380797	NM_001291303.3(FAT4):c.11624G>A (p.Ser3875Asn)	FAT4 (S3873N +1 more)	Single nucleotide variant (missense variant)	not specified +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)	not specified +3 more	GBenign
Select item 380793	NM_001291303.3(FAT4):c.2944T>C (p.Leu982=)	FAT4	Single nucleotide variant (synonymous variant)	Hennekam lymphangiectasia-lymphedema syndrome 2 +3 more	GBenign
Select item 380329	NM_001291303.3(FAT4):c.2420C>T (p.Ala807Val)	FAT4 (A807V)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 380250	NM_001291303.3(FAT4):c.5760T>C (p.Asp1920=)	FAT4	Single nucleotide variant (synonymous variant)	Van Maldergem syndrome 2 +3 more	GBenign
Select item 377855	NM_001291303.3(FAT4):c.4305C>T (p.Ile1435=)	FAT4	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 377854	NM_001291303.3(FAT4):c.4303A>G (p.Ile1435Val)	FAT4 (I1435V)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 377311	NM_001291303.3(FAT4):c.10810A>C (p.Ile3604Leu)	FAT4 (I3604L +1 more)	Single nucleotide variant (missense variant)	Van Maldergem syndrome 2 +3 more	GBenign/Likely benign
Select item 376888	NM_001291303.3(FAT4):c.5275A>G (p.Ile1759Val)	FAT4 (I1759V)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 265140	NM_001291303.3(FAT4):c.5597C>T (p.Thr1866Met)	FAT4 (T1866M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 156112	NM_001291303.3(FAT4):c.7204A>C (p.Arg2402=)	FAT4	Single nucleotide variant (synonymous variant +1 more)	Hennekam lymphangiectasia-lymphedema syndrome 2	GPathogenic
Select item 156111	NM_001291303.3(FAT4):c.12851C>T (p.Ser4284Phe)	FAT4 (S4284F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 156110	NM_001291303.3(FAT4):c.1195del (p.Leu399fs)	FAT4 (L399fs)	Deletion (frameshift variant)	Hennekam lymphangiectasia-lymphedema syndrome 2	GPathogenic
Select item 156109	NM_001291303.3(FAT4):c.7035TGGAAC[3] (p.2346GT[3])	FAT4	Microsatellite (inframe_insertion)	Hennekam lymphangiectasia-lymphedema 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

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Items: 81