FAT4[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 2638

<< First< Prev

Page of 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	LOC129993132, LOC129993133 +420 more	Copy number loss	See cases	GPathogenic
Select item 155140	GRCh38/hg38 4q26-28.3(chr4:117351881-133565667)x1	ABHD18, ADAD1 +254 more	Copy number loss	See cases	GPathogenic
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 150255	GRCh38/hg38 4q28.1(chr4:123215841-125460263)x1	AFG2A, ANKRD50 +17 more	Copy number loss	See cases	GUncertain significance
Select item 59480	GRCh38/hg38 4q28.1(chr4:124055204-126331108)x1	ANKRD50, FAT4 +8 more	Copy number loss	See cases	GPathogenic
Select item 145990	GRCh38/hg38 4q28.1-28.3(chr4:125118620-132773079)x1	ABHD18, C4orf33 +113 more	Copy number loss	See cases	GPathogenic
Select item 669952	NM_001291303.3(FAT4):c.-13+109A>G	FAT4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1485605	NM_001291303.3(FAT4):c.10G>A (p.Ala4Thr)	FAT4 (A4T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2733225	NM_001291303.3(FAT4):c.24T>C (p.Ala8=)	FAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2609546	NM_001291303.3(FAT4):c.25A>T (p.Thr9Ser)	FAT4 (T9S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1511341	NM_001291303.3(FAT4):c.37T>C (p.Trp13Arg)	FAT4 (W13R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2082386	NM_001291303.3(FAT4):c.42C>T (p.Leu14=)	FAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1905365	NM_001291303.3(FAT4):c.42C>G (p.Leu14=)	FAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1006605	NM_001291303.3(FAT4):c.44C>G (p.Pro15Arg)	FAT4 (P15R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875804	NM_001291303.3(FAT4):c.55C>T (p.Leu19=)	FAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1608944	NM_001291303.3(FAT4):c.60A>G (p.Ser20=)	FAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1958856	NM_001291303.3(FAT4):c.61G>C (p.Val21Leu)	FAT4 (V21L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2010348	NM_001291303.3(FAT4):c.78A>G (p.Arg26=)	FAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1113383	NM_001291303.3(FAT4):c.81G>A (p.Val27=)	FAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2704331	NM_001291303.3(FAT4):c.89T>C (p.Leu30Pro)	FAT4 (L30P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1635827	NM_001291303.3(FAT4):c.90A>G (p.Leu30=)	FAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1562488	NM_001291303.3(FAT4):c.91C>T (p.Leu31=)	FAT4	Single nucleotide variant (synonymous variant)	FAT4-related disorder +1 more	GLikely benign
Select item 2414070	NM_001291303.3(FAT4):c.104C>T (p.Pro35Leu)	FAT4 (P35L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1621660	NM_001291303.3(FAT4):c.105G>C (p.Pro35=)	FAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1315396	NM_001291303.3(FAT4):c.115T>C (p.Trp39Arg)	FAT4 (W39R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987731	NM_001291303.3(FAT4):c.120C>T (p.Val40=)	FAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1987189	NM_001291303.3(FAT4):c.124G>C (p.Gly42Arg)	FAT4 (G42R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 759665	NM_001291303.3(FAT4):c.129C>G (p.Ala43=)	FAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 221921	NM_001291303.3(FAT4):c.131A>C (p.Glu44Ala)	FAT4 (E44A)	Single nucleotide variant (missense variant)	Irido-corneo-trabecular dysgenesis +2 more	GConflicting classifications of pathogenicity
Select item 1646376	NM_001291303.3(FAT4):c.132G>A (p.Glu44=)	FAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1378614	NM_001291303.3(FAT4):c.132G>C (p.Glu44Asp)	FAT4 (E44D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2880560	NM_001291303.3(FAT4):c.134C>A (p.Pro45Gln)	FAT4 (P45Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2000651	NM_001291303.3(FAT4):c.140A>G (p.Gln47Arg)	FAT4 (Q47R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1660569	NM_001291303.3(FAT4):c.141G>A (p.Gln47=)	FAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1624835	NM_001291303.3(FAT4):c.144G>A (p.Val48=)	FAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2029229	NM_001291303.3(FAT4):c.147C>T (p.Phe49=)	FAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1706128	NM_001291303.3(FAT4):c.151G>C (p.Val51Leu)	FAT4 (V51L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1404591	NM_001291303.3(FAT4):c.152T>G (p.Val51Gly)	FAT4 (V51G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1926169	NM_001291303.3(FAT4):c.155T>C (p.Leu52Pro)	FAT4 (L52P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2010189	NM_001291303.3(FAT4):c.164A>G (p.Gln55Arg)	FAT4 (Q55R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1380109	NM_001291303.3(FAT4):c.169C>G (p.Pro57Ala)	FAT4 (P57A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1903141	NM_001291303.3(FAT4):c.172G>A (p.Gly58Ser)	FAT4 (G58S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1176171	NM_001291303.3(FAT4):c.173G>T (p.Gly58Val)	FAT4 (G58V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1421172	NM_001291303.3(FAT4):c.176C>T (p.Thr59Ile)	FAT4 (T59I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 1421199	NM_001291303.3(FAT4):c.188C>T (p.Thr63Ile)	FAT4 (T63I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2333229	NM_001291303.3(FAT4):c.192C>G (p.Ile64Met)	FAT4 (I64M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3093192	NM_001291303.3(FAT4):c.197C>T (p.Thr66Met)	FAT4 (T66M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2963831	NM_001291303.3(FAT4):c.198G>C (p.Thr66=)	FAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2739638	NM_001291303.3(FAT4):c.213C>T (p.Thr71=)	FAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1495857	NM_001291303.3(FAT4):c.217A>G (p.Arg73Gly)	FAT4 (R73G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2839016	NM_001291303.3(FAT4):c.222C>T (p.Leu74=)	FAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875289	NM_001291303.3(FAT4):c.225C>T (p.Ser75=)	FAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2004135	NM_001291303.3(FAT4):c.234C>A (p.His78Gln)	FAT4 (H78Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2180158	NM_001291303.3(FAT4):c.235G>T (p.Ala79Ser)	FAT4 (A79S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1933595	NM_001291303.3(FAT4):c.237C>T (p.Ala79=)	FAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1500387	NM_001291303.3(FAT4):c.247A>G (p.Ile83Val)	FAT4 (I83V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1508538	NM_001291303.3(FAT4):c.253A>G (p.Ser85Gly)	FAT4 (S85G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1914869	NM_001291303.3(FAT4):c.261C>T (p.Thr87=)	FAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1946306	NM_001291303.3(FAT4):c.262G>A (p.Gly88Arg)	FAT4 (G88R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1574649	NM_001291303.3(FAT4):c.270G>A (p.Leu90=)	FAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1207797	NM_001291303.3(FAT4):c.283A>T (p.Thr95Ser)	FAT4 (T95S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1326019	NM_001291303.3(FAT4):c.286A>G (p.Ile96Val)	FAT4 (I96V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2056675	NM_001291303.3(FAT4):c.300C>G (p.Ser100Arg)	FAT4 (S100R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1480210	NM_001291303.3(FAT4):c.316A>T (p.Ile106Phe)	FAT4 (I106F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1492926	NM_001291303.3(FAT4):c.321C>A (p.Asn107Lys)	FAT4 (N107K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1994967	NM_001291303.3(FAT4):c.322C>T (p.Leu108=)	FAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1405208	NM_001291303.3(FAT4):c.327G>A (p.Val109=)	FAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2174333	NM_001291303.3(FAT4):c.333T>C (p.Leu111=)	FAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2163110	NM_001291303.3(FAT4):c.350A>T (p.Tyr117Phe)	FAT4 (Y117F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2818119	NM_001291303.3(FAT4):c.351C>T (p.Tyr117=)	FAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2662011	NM_001291303.3(FAT4):c.367G>C (p.Val123Leu)	FAT4 (V123L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1912191	NM_001291303.3(FAT4):c.377G>A (p.Arg126Gln)	FAT4 (R126Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1939213	NM_001291303.3(FAT4):c.382C>T (p.Leu128Phe)	FAT4 (L128F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1416677	NM_001291303.3(FAT4):c.386A>G (p.Asn129Ser)	FAT4 (N129S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2013521	NM_001291303.3(FAT4):c.390C>G (p.Asp130Glu)	FAT4 (D130E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1606074	NM_001291303.3(FAT4):c.390C>T (p.Asp130=)	FAT4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2896794	NM_001291303.3(FAT4):c.393C>T (p.Asn131=)	FAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1490761	NM_001291303.3(FAT4):c.400G>T (p.Val134Phe)	FAT4 (V134F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 380815	NM_001291303.3(FAT4):c.405C>T (p.Phe135=)	FAT4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2120478	NM_001291303.3(FAT4):c.417T>C (p.Ser139=)	FAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1037201	NM_001291303.3(FAT4):c.418A>G (p.Ile140Val)	FAT4 (I140V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2091831	NM_001291303.3(FAT4):c.428C>T (p.Thr143Ile)	FAT4 (T143I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1378439	NM_001291303.3(FAT4):c.446G>A (p.Ser149Asn)	FAT4 (S149N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1434615	NM_001291303.3(FAT4):c.458A>G (p.Gln153Arg)	FAT4 (Q153R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1495197	NM_001291303.3(FAT4):c.469G>T (p.Asp157Tyr)	FAT4 (D157Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1501925	NM_001291303.3(FAT4):c.473C>G (p.Thr158Ser)	FAT4 (T158S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1413652	NM_001291303.3(FAT4):c.475G>T (p.Ala159Ser)	FAT4 (A159S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2417646	NM_001291303.3(FAT4):c.486G>A (p.Ser162=)	FAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2813003	NM_001291303.3(FAT4):c.501C>T (p.Asn167=)	FAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2575693	NM_001291303.3(FAT4):c.502G>C (p.Gly168Arg)	FAT4 (G168R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2277806	NM_001291303.3(FAT4):c.518C>T (p.Ser173Phe)	FAT4 (S173F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2127275	NM_001291303.3(FAT4):c.522C>T (p.Tyr174=)	FAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2428060	NM_001291303.3(FAT4):c.523C>A (p.Arg175Ser)	FAT4 (R175S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 391893	NM_001291303.3(FAT4):c.524G>T (p.Arg175Leu)	FAT4 (R175L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1653813	NM_001291303.3(FAT4):c.525C>T (p.Arg175=)	FAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2421979	NM_001291303.3(FAT4):c.528C>G (p.Ile176Met)	FAT4 (I176M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1398627	NM_001291303.3(FAT4):c.532C>A (p.Arg178Ser)	FAT4 (R178S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 27