"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 391893	NM_001291303.3(FAT4):c.524G>T (p.Arg175Leu)	FAT4 (R175L)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
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 993351	NM_001291303.3(FAT4):c.1099G>A (p.Val367Ile)	FAT4 (V367I)	Single nucleotide variant (missense variant)	FAT4-related condition +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 388300	NM_001291303.3(FAT4):c.1128G>A (p.Val376=)	FAT4	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 373174	NM_001291303.3(FAT4):c.3682C>G (p.Gln1228Glu)	FAT4 (Q1228E)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 384625	NM_001291303.3(FAT4):c.4154T>C (p.Leu1385Ser)	FAT4 (L1385S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1679495	NM_001291303.3(FAT4):c.4195C>A (p.Pro1399Thr)	FAT4 (P1399T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 377854	NM_001291303.3(FAT4):c.4303A>G (p.Ile1435Val)	FAT4 (I1435V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 376888	NM_001291303.3(FAT4):c.5275A>G (p.Ile1759Val)	FAT4 (I1759V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 871426	NM_001291303.3(FAT4):c.5792A>G (p.Tyr1931Cys)	FAT4 (Y1931C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 516686	NM_001291303.3(FAT4):c.5921-14C>T	FAT4	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
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 383607	NM_001291303.3(FAT4):c.8544C>T (p.Ser2848=)	FAT4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 506463	NM_001291303.3(FAT4):c.8842A>G (p.Ile2948Val)	FAT4 (I2946V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 811948	NM_001291303.3(FAT4):c.9800A>G (p.His3267Arg)	FAT4 (H3265R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 506464	NM_001291303.3(FAT4):c.9876G>A (p.Gly3292=)	FAT4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2920940	NM_001291303.3(FAT4):c.10247G>C (p.Ser3416Thr)	FAT4 (S3414T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 679019	NM_001291303.3(FAT4):c.10390A>G (p.Ile3464Val)	FAT4 (I3464V +1 more)	Single nucleotide variant (missense variant)	FAT4-related condition +1 more	GLikely benign
Select item 1303310	NM_001291303.3(FAT4):c.10750C>G (p.Leu3584Val)	FAT4 (L3582V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 252740	NM_001291303.3(FAT4):c.10853C>T (p.Thr3618Met)	FAT4 (T3616M +1 more)	Single nucleotide variant (missense variant)	FAT4-related condition +2 more	GBenign/Likely benign
Select item 1214575	NM_001291303.3(FAT4):c.11380C>T (p.Arg3794Trp)	FAT4 (R3792W +1 more)	Single nucleotide variant (missense variant)	FAT4-related condition +2 more	GConflicting classifications of pathogenicity
Select item 382899	NM_001291303.3(FAT4):c.11429A>G (p.His3810Arg)	FAT4 (H3808R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 385985	NM_001291303.3(FAT4):c.11488A>G (p.Lys3830Glu)	FAT4 (K3828E +1 more)	Single nucleotide variant (missense variant)	FAT4-related condition +2 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 384300	NM_001291303.3(FAT4):c.11820A>G (p.Ser3940=)	FAT4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1545580	NM_001291303.3(FAT4):c.11906-17A>C	FAT4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 380887	NM_001291303.3(FAT4):c.12070C>T (p.Arg4024Trp)	FAT4 (R4022W +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 382920	NM_001291303.3(FAT4):c.12071G>A (p.Arg4024Gln)	FAT4 (R4022Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 449817	NM_001291303.3(FAT4):c.12769G>A (p.Glu4257Lys)	FAT4 (E4255K +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 380888	NM_001291303.3(FAT4):c.12855T>C (p.Asp4285=)	FAT4	Single nucleotide variant (synonymous variant)	not provided +2 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 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 380819	NM_001291303.3(FAT4):c.14183G>A (p.Arg4728Lys)	FAT4 (R4726K +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 35