FITM1[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	TRDC, TRDD1 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC130055370, LOC130055371 +840 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	ABHD4, ACIN1 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	ADCY4, AKAP6 +399 more	Copy number loss	See cases	GPathogenic
Select item 154806	GRCh38/hg38 14q11.2-12(chr14:23984065-25374494)x1	ADCY4, CARMIL3 +122 more	Copy number loss	See cases	GPathogenic
Select item 2495019	NM_203402.3(FITM1):c.40G>A (p.Gly14Arg)	FITM1 (G14R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589469	NM_203402.3(FITM1):c.47G>A (p.Arg16Gln)	FITM1 (R16Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249207	NM_203402.3(FITM1):c.56C>T (p.Ala19Val)	FITM1 (A19V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370071	NM_203402.3(FITM1):c.79G>A (p.Val27Met)	FITM1 (V27M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521575	NM_203402.3(FITM1):c.130G>A (p.Ala44Thr)	FITM1 (A44T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282509	NM_203402.3(FITM1):c.146G>C (p.Ser49Thr)	FITM1 (S49T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409809	NM_203402.3(FITM1):c.158G>A (p.Arg53Gln)	FITM1 (R53Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473235	NM_203402.3(FITM1):c.160C>T (p.Arg54Cys)	FITM1 (R54C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 781127	NM_203402.3(FITM1):c.312G>A (p.Gly104=)	FITM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2393572	NM_203402.3(FITM1):c.338T>G (p.Leu113Arg)	FITM1 (L113R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553354	NM_203402.3(FITM1):c.347G>A (p.Arg116Gln)	FITM1 (R116Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 710219	NM_203402.3(FITM1):c.400G>A (p.Val134Met)	FITM1 (V134M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2457463	NM_203402.3(FITM1):c.415G>A (p.Gly139Ser)	FITM1 (G139S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223297	NM_203402.3(FITM1):c.436G>A (p.Glu146Lys)	FITM1 (E146K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361911	NM_203402.3(FITM1):c.503G>A (p.Arg168His)	FITM1 (R168H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220732	NM_203402.3(FITM1):c.505C>G (p.Arg169Gly)	FITM1 (R169G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407479	NM_203402.3(FITM1):c.547G>A (p.Val183Ile)	FITM1 (V183I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 756767	NM_203402.3(FITM1):c.612C>A (p.Phe204Leu)	FITM1 (F204L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2250456	NM_203402.3(FITM1):c.655C>T (p.Arg219Cys)	FITM1 (R219C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604385	NM_203402.3(FITM1):c.674A>G (p.Asn225Ser)	FITM1 (N225S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344525	NM_203402.3(FITM1):c.725A>G (p.Tyr242Cys)	FITM1 (Y242C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467188	NM_203402.3(FITM1):c.757G>A (p.Ala253Thr)	FITM1 (A253T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 776822	NM_203402.3(FITM1):c.759C>T (p.Ala253=)	FITM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2259457	NM_203402.3(FITM1):c.850C>A (p.Arg284Ser)	FITM1 (R284S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063335	GRCh37/hg19 14q11.2-12(chr14:24566156-24631608)x1	DCAF11, EMC9 +6 more	Copy number loss	not specified	GUncertain significance
Select item 2685479	GRCh37/hg19 14q11.2-12(chr14:24445622-28262222)x1	RIPK3, RNF31 +41 more	Copy number loss	not provided	GLikely pathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2423736	NC_000014.8:g.(?_23242819)_(25103366_?)dup	ACIN1, ADCY4 +77 more	Duplication	Lysinuric protein intolerance +1 more	GUncertain significance
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 980003	GRCh37/hg19 14q11.2-12(chr14:24163771-24818728)x3	ADCY4, CARMIL3 +31 more	Copy number gain	not provided	GUncertain significance
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 807188	GRCh37/hg19 14q11.2-12(chr14:24505708-24601038)x1	CARMIL3, CPNE6 +5 more	Copy number loss	not provided	GUncertain significance
Select item 625814	GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	ARHGEF40, BCL2L2 +152 more	Copy number gain	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 442398	GRCh37/hg19 14q11.2-12(chr14:24233721-31377083)x1	ADCY4, CARMIL3 +48 more	Copy number loss	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ACTN1, ACTR10 +635 more	Copy number gain	See cases	GPathogenic
Select item 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	CIDEB, MIR208A +164 more	Copy number gain	See cases	GPathogenic
Select item 253659	GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	ABHD4, ACIN1 +149 more	Copy number gain	See cases	GPathogenic

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Items: 49