"Clinical Genetics, Academic Medical Center"[submitter] AND "FAT4"[gen - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 380815	NM_001291303.3(FAT4):c.405C>T (p.Phe135=)	FAT4	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 380918	NM_001291303.3(FAT4):c.739C>A (p.Pro247Thr)	FAT4 (P247T)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
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 388300	NM_001291303.3(FAT4):c.1128G>A (p.Val376=)	FAT4	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
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 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 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 380818	NM_001291303.3(FAT4):c.3687G>C (p.Val1229=)	FAT4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 380882	NM_001291303.3(FAT4):c.3769C>G (p.Gln1257Glu)	FAT4 (Q1257E)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 386758	NM_001291303.3(FAT4):c.4219G>A (p.Val1407Ile)	FAT4 (V1407I)	Single nucleotide variant (missense variant)	not provided	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 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 729522	NM_001291303.3(FAT4):c.5883T>C (p.Ser1961=)	FAT4	Single nucleotide variant (synonymous variant)	FAT4-related disorder +1 more	GBenign
Select item 426899	NM_001291303.3(FAT4):c.6094A>G (p.Thr2032Ala)	FAT4 (T2032A)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 384835	NM_001291303.3(FAT4):c.6219A>G (p.Gln2073=)	FAT4	Single nucleotide variant (synonymous variant)	FAT4-related disorder +2 more	GBenign/Likely benign
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 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 380933	NM_001291303.3(FAT4):c.8482G>A (p.Asp2828Asn)	FAT4 (D2826N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 383607	NM_001291303.3(FAT4):c.8544C>T (p.Ser2848=)	FAT4	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 380798	NM_001291303.3(FAT4):c.9649C>T (p.His3217Tyr)	FAT4 (H3215Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 506585	NM_001291303.3(FAT4):c.10158A>G (p.Ala3386=)	FAT4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 679019	NM_001291303.3(FAT4):c.10390A>G (p.Ile3464Val)	FAT4 (I3464V +1 more)	Single nucleotide variant (missense variant)	FAT4-related disorder +1 more	GLikely 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 377311	NM_001291303.3(FAT4):c.10810A>C (p.Ile3604Leu)	FAT4 (I3604L +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 380816	NM_001291303.3(FAT4):c.11405C>T (p.Ser3802Phe)	FAT4 (S3800F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 385144	NM_001291303.3(FAT4):c.11619C>T (p.Cys3873=)	FAT4	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
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 380799	NM_001291303.3(FAT4):c.12214-5C>T	FAT4	Single nucleotide variant (intron variant)	Van Maldergem syndrome 2 +3 more	GBenign
Select item 747207	NM_001291303.3(FAT4):c.12321T>C (p.Asn4107=)	FAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 380800	NM_001291303.3(FAT4):c.12819G>A (p.Val4273=)	FAT4	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 385986	NM_001291303.3(FAT4):c.12852C>T (p.Ser4284=)	FAT4	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 380801	NM_001291303.3(FAT4):c.12909C>T (p.Asp4303=)	FAT4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1180897	NM_001291303.3(FAT4):c.13206C>A (p.Gly4402=)	FAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 385766	NM_001291303.3(FAT4):c.13554G>A (p.Leu4518=)	FAT4	Single nucleotide variant (synonymous variant)	FAT4-related disorder +1 more	GBenign/Likely benign
Select item 381278	NM_001291303.3(FAT4):c.13605G>A (p.Lys4535=)	FAT4	Single nucleotide variant (synonymous variant)	not specified +1 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 382877	NM_001291303.3(FAT4):c.14135C>G (p.Ser4712Cys)	FAT4 (S4710C +2 more)	Single nucleotide variant (missense variant)	not provided +1 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 445551	NM_001291303.3(FAT4):c.14663C>G (p.Ala4888Gly)	FAT4 (A4888G +2 more)	Single nucleotide variant (missense variant)	FAT4-related disorder +2 more	GBenign/Likely benign
Select item 380911	NM_001291303.3(FAT4):c.14920C>T (p.Pro4974Ser)	FAT4 (P4972S +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign

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Items: 40