"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "FAT1"[gene - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 791620	NM_005245.4(FAT1):c.13582G>A (p.Glu4528Lys)	FAT1, LOC126807253 (E4528K)	Single nucleotide variant (missense variant)	FAT1-related condition +1 more	GBenign/Likely benign
Select item 2276359	NM_005245.4(FAT1):c.13184C>T (p.Pro4395Leu)	FAT1, LOC126807253 (P4395L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1299825	NM_005245.4(FAT1):c.13158A>C (p.Ser4386=)	FAT1, LOC126807253	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2187677	NM_005245.4(FAT1):c.13074C>T (p.Ala4358=)	FAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1298976	NM_005245.4(FAT1):c.12808C>T (p.Arg4270Ter)	FAT1 (R4270*)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity
Select item 1050539	NM_005245.4(FAT1):c.12653A>G (p.Asp4218Gly)	FAT1 (D4218G)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 773161	NM_005245.4(FAT1):c.12522G>A (p.Pro4174=)	FAT1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 719869	NM_005245.4(FAT1):c.12330C>T (p.Gly4110=)	FAT1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1658331	NM_005245.4(FAT1):c.12303C>T (p.Gly4101=)	FAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2183114	NM_005245.4(FAT1):c.12104-7G>A	FAT1	Single nucleotide variant (intron variant)	FAT1-related condition +1 more	GLikely benign
Select item 2655218	NM_005245.4(FAT1):c.11796T>C (p.Thr3932=)	FAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2070324	NM_005245.4(FAT1):c.11556G>C (p.Glu3852Asp)	FAT1 (E3852D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1050227	NM_005245.4(FAT1):c.11155G>A (p.Val3719Met)	FAT1, LOC126807254 (V3719M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2655219	NM_005245.4(FAT1):c.11002C>T (p.Arg3668Trp)	FAT1, LOC126807254 (R3668W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314420	NM_005245.4(FAT1):c.10930G>A (p.Ala3644Thr)	FAT1, LOC126807254 (A3644T)	Single nucleotide variant (missense variant)	FAT1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 779238	NM_005245.4(FAT1):c.10632G>A (p.Ala3544=)	FAT1, LOC126807254	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 493405	NM_005245.4(FAT1):c.10478C>T (p.Pro3493Leu)	FAT1 (P3493L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708778	NM_005245.4(FAT1):c.10424C>G (p.Pro3475Arg)	FAT1 (P3475R)	Single nucleotide variant (missense variant)	FAT1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2655220	NM_005245.4(FAT1):c.10416C>T (p.Asn3472=)	FAT1	Single nucleotide variant (synonymous variant)	FAT1-related condition +1 more	GLikely benign
Select item 1298977	NM_005245.4(FAT1):c.10375G>A (p.Val3459Met)	FAT1 (V3459M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2655221	NM_005245.4(FAT1):c.10271C>T (p.Thr3424Met)	FAT1 (T3424M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 767986	NM_005245.4(FAT1):c.10260A>G (p.Arg3420=)	FAT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2066243	NM_005245.4(FAT1):c.10227G>A (p.Thr3409=)	FAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2178908	NM_005245.4(FAT1):c.9448A>G (p.Thr3150Ala)	FAT1 (T3150A)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 707891	NM_005245.4(FAT1):c.9440T>G (p.Val3147Gly)	FAT1 (V3147G)	Single nucleotide variant (missense variant)	FAT1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1597471	NM_005245.4(FAT1):c.9399C>T (p.Thr3133=)	FAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655222	NM_005245.4(FAT1):c.8666C>T (p.Ala2889Val)	FAT1, LOC126807255 (A2889V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 781849	NM_005245.4(FAT1):c.8535G>A (p.Met2845Ile)	FAT1, LOC126807255 (M2845I)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2655223	NM_005245.4(FAT1):c.8147T>G (p.Val2716Gly)	FAT1 (V2716G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 770714	NM_005245.4(FAT1):c.7700G>A (p.Arg2567His)	FAT1 (R2567H)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 790789	NM_005245.4(FAT1):c.7698C>T (p.Val2566=)	FAT1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2655224	NM_005245.4(FAT1):c.7113C>T (p.Ser2371=)	FAT1	Single nucleotide variant (synonymous variant)	FAT1-related condition +1 more	GLikely benign
Select item 2655225	NM_005245.4(FAT1):c.6442A>G (p.Lys2148Glu)	FAT1 (K2148E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2655226	NM_005245.4(FAT1):c.6312T>A (p.Thr2104=)	FAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655227	NM_005245.4(FAT1):c.6234G>A (p.Ala2078=)	FAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2384390	NM_005245.4(FAT1):c.6122G>A (p.Arg2041His)	FAT1 (R2041H)	Single nucleotide variant (missense variant)	FAT1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1675970	NM_005245.4(FAT1):c.5888C>A (p.Thr1963Asn)	FAT1 (T1963N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1915091	NM_005245.4(FAT1):c.5869G>A (p.Gly1957Ser)	FAT1 (G1957S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1547457	NM_005245.4(FAT1):c.5646A>G (p.Pro1882=)	FAT1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2655228	NM_005245.4(FAT1):c.5628C>G (p.Pro1876=)	FAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 932582	NM_005245.4(FAT1):c.5511T>G (p.Tyr1837Ter)	FAT1 (Y1837*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2655229	NM_005245.4(FAT1):c.4959G>A (p.Val1653=)	FAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 708936	NM_005245.4(FAT1):c.4841C>T (p.Pro1614Leu)	FAT1, LOC132090718 (P1614L)	Single nucleotide variant (missense variant)	FAT1-related condition +1 more	GBenign/Likely benign
Select item 790790	NM_005245.4(FAT1):c.4818T>C (p.Ile1606=)	FAT1, LOC132090718	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 773162	NM_005245.4(FAT1):c.4754C>T (p.Thr1585Met)	FAT1 (T1585M)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2655230	NM_005245.4(FAT1):c.4675G>A (p.Ala1559Thr)	FAT1 (A1559T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 809715	NM_005245.4(FAT1):c.4599+6C>T	FAT1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 773163	NM_005245.4(FAT1):c.3803G>A (p.Arg1268Gln)	FAT1 (R1268Q)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2219622	NM_005245.4(FAT1):c.3785G>A (p.Arg1262Gln)	FAT1 (R1262Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 710589	NM_005245.4(FAT1):c.3503C>T (p.Ser1168Leu)	FAT1 (S1168L)	Single nucleotide variant (missense variant)	FAT1-related condition +1 more	GBenign/Likely benign
Select item 781994	NM_005245.4(FAT1):c.3446T>C (p.Met1149Thr)	FAT1 (M1149T)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2655231	NM_005245.4(FAT1):c.3363G>A (p.Ser1121=)	FAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655232	NM_005245.4(FAT1):c.3238G>T (p.Gly1080Cys)	FAT1 (G1080C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1298978	NM_005245.4(FAT1):c.2955C>T (p.Ile985=)	FAT1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 444645	NM_005245.4(FAT1):c.2836A>G (p.Ile946Val)	FAT1 (I946V)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1012725	NM_005245.4(FAT1):c.2832C>T (p.Thr944=)	FAT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1284996	NM_005245.4(FAT1):c.2734G>A (p.Val912Ile)	FAT1 (V912I)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 809716	NM_005245.4(FAT1):c.2706A>C (p.Arg902Ser)	FAT1 (R902S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 444646	NM_005245.4(FAT1):c.2641C>T (p.Arg881Cys)	FAT1 (R881C)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2655233	NM_005245.4(FAT1):c.2610T>C (p.Ile870=)	FAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 425343	NM_005245.4(FAT1):c.2563G>A (p.Gly855Arg)	FAT1 (G855R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2063763	NM_005245.4(FAT1):c.2426A>G (p.His809Arg)	FAT1 (H809R)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 728740	NM_005245.4(FAT1):c.2236A>G (p.Thr746Ala)	FAT1 (T746A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 770354	NM_005245.4(FAT1):c.2163G>A (p.Pro721=)	FAT1	Single nucleotide variant (synonymous variant)	FAT1-related condition +1 more	GBenign/Likely benign
Select item 2063764	NM_005245.4(FAT1):c.1906G>A (p.Ala636Thr)	FAT1 (A636T)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 809717	NM_005245.4(FAT1):c.1643G>A (p.Arg548His)	FAT1 (R548H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1536316	NM_005245.4(FAT1):c.1335G>A (p.Ala445=)	FAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655234	NM_005245.4(FAT1):c.1178C>T (p.Pro393Leu)	FAT1 (P393L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 719388	NM_005245.4(FAT1):c.1146C>A (p.Pro382=)	FAT1	Single nucleotide variant (synonymous variant)	FAT1-related condition +1 more	GBenign/Likely benign
Select item 790398	NM_005245.4(FAT1):c.883G>A (p.Val295Met)	FAT1 (V295M)	Single nucleotide variant (missense variant)	FAT1-related condition +1 more	GLikely benign
Select item 1536067	NM_005245.4(FAT1):c.843C>T (p.Cys281=)	FAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2418474	NM_005245.4(FAT1):c.315A>G (p.Thr105=)	FAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2578971	NM_005245.4(FAT1):c.208G>A (p.Val70Ile)	FAT1 (V70I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 809718	NM_005245.4(FAT1):c.201G>A (p.Ala67=)	FAT1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1012726	NM_005245.4(FAT1):c.131A>G (p.Gln44Arg)	FAT1 (Q44R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1634087	NM_005245.4(FAT1):c.56G>C (p.Gly19Ala)	FAT1 (G19A)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3024634	GRCh37/hg19 4q32.3-35.2(chr4:169060637-191154276)x1	AADAT, ACSL1 +68 more	Copy number loss	not provided	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	TMA16, CXCL1 +537 more	Copy number gain	not provided	GPathogenic
Select item 809725	GRCh37/hg19 4q35.1-35.2(chr4:183245174-190948359)x1	ACSL1, ANKRD37 +37 more	Copy number loss	not provided	GLikely pathogenic
Select item 547113	GRCh37/hg19 4q35.2(chr4:187333416-187518766)x3	FAT1, MTNR1A	Copy number gain	not provided	GUncertain significance

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Items: 80