FITM1[gene] - ClinVar

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

Search results

Items: 64

	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	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	MIR4503, MIR624 +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)	not specified	GUncertain significance
Select item 2589469	NM_203402.3(FITM1):c.47G>A (p.Arg16Gln)	FITM1 (R16Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249207	NM_203402.3(FITM1):c.56C>T (p.Ala19Val)	FITM1 (A19V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370071	NM_203402.3(FITM1):c.79G>A (p.Val27Met)	FITM1 (V27M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521575	NM_203402.3(FITM1):c.130G>A (p.Ala44Thr)	FITM1 (A44T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282509	NM_203402.3(FITM1):c.146G>C (p.Ser49Thr)	FITM1 (S49T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409809	NM_203402.3(FITM1):c.158G>A (p.Arg53Gln)	FITM1 (R53Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473235	NM_203402.3(FITM1):c.160C>T (p.Arg54Cys)	FITM1 (R54C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095262	NM_203402.3(FITM1):c.161G>A (p.Arg54His)	FITM1 (R54H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278913	NM_203402.3(FITM1):c.182C>T (p.Ala61Val)	FITM1 (A61V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278909	NM_203402.3(FITM1):c.184G>A (p.Ala62Thr)	FITM1 (A62T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095263	NM_203402.3(FITM1):c.250G>A (p.Gly84Ser)	FITM1 (G84S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278908	NM_203402.3(FITM1):c.283G>A (p.Ala95Thr)	FITM1 (A95T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278910	NM_203402.3(FITM1):c.294G>C (p.Trp98Cys)	FITM1 (W98C)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2553354	NM_203402.3(FITM1):c.347G>A (p.Arg116Gln)	FITM1 (R116Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095264	NM_203402.3(FITM1):c.352G>A (p.Val118Met)	FITM1 (V118M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278912	NM_203402.3(FITM1):c.382C>A (p.Leu128Met)	FITM1 (L128M)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 3095265	NM_203402.3(FITM1):c.418C>G (p.Arg140Gly)	FITM1 (R140G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095266	NM_203402.3(FITM1):c.419G>A (p.Arg140Gln)	FITM1 (R140Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223297	NM_203402.3(FITM1):c.436G>A (p.Glu146Lys)	FITM1 (E146K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095268	NM_203402.3(FITM1):c.501C>A (p.Asp167Glu)	FITM1 (D167E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361911	NM_203402.3(FITM1):c.503G>A (p.Arg168His)	FITM1 (R168H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220732	NM_203402.3(FITM1):c.505C>G (p.Arg169Gly)	FITM1 (R169G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095269	NM_203402.3(FITM1):c.506G>A (p.Arg169His)	FITM1 (R169H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407479	NM_203402.3(FITM1):c.547G>A (p.Val183Ile)	FITM1 (V183I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095270	NM_203402.3(FITM1):c.604G>A (p.Ala202Thr)	FITM1 (A202T)	Single nucleotide variant (missense variant)	not specified	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 3095271	NM_203402.3(FITM1):c.613G>A (p.Ala205Thr)	FITM1 (A205T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250456	NM_203402.3(FITM1):c.655C>T (p.Arg219Cys)	FITM1 (R219C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604385	NM_203402.3(FITM1):c.674A>G (p.Asn225Ser)	FITM1 (N225S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278911	NM_203402.3(FITM1):c.723C>G (p.Ile241Met)	FITM1 (I241M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344525	NM_203402.3(FITM1):c.725A>G (p.Tyr242Cys)	FITM1 (Y242C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467188	NM_203402.3(FITM1):c.757G>A (p.Ala253Thr)	FITM1 (A253T)	Single nucleotide variant (missense variant)	not specified	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)	not specified	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	MRPL52, MYH6 +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, DCAF11 +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)	GTF2A1, GZMB +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	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	OR5AU1, OR6S1 +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

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: 64