IFFO1[gene] - ClinVar

Search results

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	GAPDH, GAU1 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
Select item 146024	GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3	ACRBP, ADIPOR2 +348 more	Copy number gain	See cases	GPathogenic
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +698 more	Copy number gain	See cases	GPathogenic
Select item 3108094	NM_001193457.2(IFFO1):c.1709T>C (p.Met570Thr)	IFFO1 (M558T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376631	NM_001193457.2(IFFO1):c.1631C>T (p.Ala544Val)	IFFO1, LOC130007250 (A534V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488521	NM_001193457.2(IFFO1):c.1604G>A (p.Gly535Glu)	IFFO1 (G523E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382934	NM_001193457.2(IFFO1):c.1582C>T (p.Arg528Cys)	IFFO1 (R516C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284873	NM_001193457.2(IFFO1):c.1417G>A (p.Asp473Asn)	IFFO1 (D461N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108090	NM_001193457.2(IFFO1):c.1228A>C (p.Ile410Leu)	IFFO1 (I399L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275077	NM_001193457.2(IFFO1):c.1223T>C (p.Leu408Pro)	IFFO1 (L399P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108089	NM_001193457.2(IFFO1):c.1177G>A (p.Glu393Lys)	IFFO1 (E382K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466231	NM_001193457.2(IFFO1):c.1130G>A (p.Arg377Gln)	IFFO1 (R368Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473082	NM_001193457.2(IFFO1):c.1124G>A (p.Arg375Gln)	IFFO1 (R367Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320583	NM_001193457.2(IFFO1):c.1120G>T (p.Gly374Trp)	IFFO1 (G363W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290896	NM_001193457.2(IFFO1):c.1120G>A (p.Gly374Arg)	IFFO1 (G365R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486981	NM_001193457.2(IFFO1):c.1077G>C (p.Lys359Asn)	IFFO1 (K358N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270026	NM_001193457.2(IFFO1):c.1013C>T (p.Ala338Val)	IFFO1 (A338V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252800	NM_001193457.2(IFFO1):c.994C>T (p.Arg332Cys)	IFFO1 (R332C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526228	NM_001193457.2(IFFO1):c.984G>A (p.Met328Ile)	IFFO1 (M328I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2642617	NM_001193457.2(IFFO1):c.975G>A (p.Lys325=)	IFFO1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2598724	NM_001193457.2(IFFO1):c.938C>T (p.Ser313Leu)	IFFO1 (S313L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233591	NM_001193457.2(IFFO1):c.839C>T (p.Ala280Val)	IFFO1 (A280V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108103	NM_001193457.2(IFFO1):c.815G>A (p.Arg272His)	IFFO1 (R272H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285281	NM_001193457.2(IFFO1):c.778G>A (p.Glu260Lys)	IFFO1 (E260K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108102	NM_001193457.2(IFFO1):c.747G>C (p.Lys249Asn)	IFFO1 (K249N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406795	NM_001193457.2(IFFO1):c.616G>A (p.Gly206Arg)	IFFO1 (G206R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551269	NM_001193457.2(IFFO1):c.559T>G (p.Ser187Ala)	IFFO1 (S187A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108101	NM_001193457.2(IFFO1):c.551C>T (p.Thr184Ile)	IFFO1 (T184I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623709	NM_001193457.2(IFFO1):c.533C>T (p.Ser178Phe)	IFFO1, LOC130007252 (S178F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108100	NM_001193457.2(IFFO1):c.505C>T (p.Pro169Ser)	IFFO1, LOC130007252 (P169S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406955	NM_001193457.2(IFFO1):c.503C>G (p.Ala168Gly)	IFFO1, LOC130007252 (A168G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357578	NM_001193457.2(IFFO1):c.479C>T (p.Ala160Val)	IFFO1, LOC130007252 (A160V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249115	NM_001193457.2(IFFO1):c.452C>T (p.Pro151Leu)	IFFO1, LOC130007252 (P151L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338385	NM_001193457.2(IFFO1):c.434C>G (p.Pro145Arg)	IFFO1, LOC130007252 (P145R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108098	NM_001193457.2(IFFO1):c.428C>T (p.Ala143Val)	IFFO1, LOC130007252 (A143V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108097	NM_001193457.2(IFFO1):c.404G>A (p.Arg135Gln)	IFFO1, LOC130007252 (R135Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549848	NM_001193457.2(IFFO1):c.364C>T (p.Arg122Cys)	IFFO1 (R122C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285282	NM_001193457.2(IFFO1):c.334G>A (p.Gly112Ser)	IFFO1 (G112S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108096	NM_001193457.2(IFFO1):c.194C>A (p.Ala65Asp)	IFFO1, LOC130007253 (A65D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108095	NM_001193457.2(IFFO1):c.176C>T (p.Ala59Val)	IFFO1, LOC130007253 (A59V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471236	NM_001193457.2(IFFO1):c.163G>A (p.Gly55Arg)	IFFO1, LOC130007253 (G55R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108092	NM_001193457.2(IFFO1):c.139G>C (p.Gly47Arg)	IFFO1, LOC130007253 (G47R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108091	NM_001193457.2(IFFO1):c.139G>A (p.Gly47Ser)	IFFO1, LOC130007253 (G47S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529557	NM_001193457.2(IFFO1):c.115C>T (p.Pro39Ser)	IFFO1, LOC130007253 (P39S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363362	NM_001193457.2(IFFO1):c.104G>A (p.Gly35Glu)	IFFO1, LOC130007253 (G35E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3244331	NC_000012.11:g.(?_6438478)_(6950528_?)dup	ACRBP, CD27 +23 more	Duplication	Lymphoproliferative syndrome 2	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2423987	NC_000012.11:g.(?_4368352)_(9027607_?)dup	A2ML1, ACRBP +85 more	Duplication	Lymphoproliferative syndrome 2	GUncertain significance
Select item 1807708	GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 1527682	GRCh37/hg19 12p13.31(chr12:6530146-7376398)	ACRBP, ATN1 +40 more	Copy number gain	not specified	GUncertain significance
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
Select item 1473612	NC_000012.11:g.(?_6438478)_(8756953_?)dup	ACRBP, ACSM4 +64 more	Duplication	not provided	GUncertain significance
Select item 1409561	NC_000012.11:g.(?_6438478)_(8248686_?)dup	ENO2, VAMP1 +57 more	Duplication	Temtamy syndrome	GUncertain significance
Select item 1330180	GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3	CLEC4A, LRRC23 +106 more	Copy number gain	Single transverse palmar crease +6 more	GPathogenic
Select item 1180524	GRCh37/hg19 12p13.33-13.31(chr12:189145-7730395)x3	CRACR2A, ERC1 +93 more	Copy number gain	not provided	GPathogenic
Select item 1056361	NC_000012.11:g.(?_6438478)_(7362819_?)dup	ACRBP, ATN1 +43 more	Duplication	Temtamy syndrome	GUncertain significance
Select item 830671	NC_000012.11:g.(?_6438458)_(7362839_?)dup	ACRBP, ATN1 +43 more	Duplication	Peroxisome biogenesis disorder 2B	GUncertain significance
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 687386	GRCh37/hg19 12p13.31(chr12:6070459-6737675)x3	CD27, CD9 +14 more	Copy number gain	not provided	GUncertain significance
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 685635	GRCh37/hg19 12p13.33-13.31(chr12:173786-8393815)x3	ACRBP, ACSM4 +107 more	Copy number gain	not provided	GPathogenic
Select item 625811	GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497)	ACRBP, ACSM4 +102 more	Copy number gain	not provided	GPathogenic
Select item 625810	GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292)	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 625809	GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)	A2M, A2ML1 +193 more	Copy number gain	not provided	GPathogenic
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563988	GRCh37/hg19 12p13.33-13.31(chr12:191242-8122785)x3	ACRBP, ACSM4 +101 more	Copy number gain	not provided	GPathogenic
Select item 443532	GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	A2M, A2ML1 +256 more	Copy number gain	See cases	GPathogenic
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	KCNA6, KCNJ8 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441823	GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3	A2M, A2ML1 +166 more	Copy number gain	See cases	GPathogenic
Select item 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic

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Items: 90