GFPT2[gene] - ClinVar

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

Search results

Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	LOC129995246, LOC129995247 +622 more	Copy number gain	See cases	GPathogenic
Select item 153687	GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1	LOC129995359, LOC129995360 +386 more	Copy number loss	See cases	GPathogenic
Select item 58123	GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3	ADAMTS2, ARL10 +292 more	Copy number gain	See cases	GPathogenic
Select item 154581	GRCh38/hg38 5q35.2-35.3(chr5:176700128-181269805)x1	ADAMTS2, B4GALT7 +325 more	Copy number loss	See cases	GPathogenic
Select item 154193	GRCh38/hg38 5q35.3(chr5:178235909-181292788)x3	ADAMTS2, BTNL3 +207 more	Copy number gain	See cases	GLikely pathogenic
Select item 57495	GRCh38/hg38 5q35.3(chr5:178529878-181269805)x3	ADAMTS2, BTNL3 +203 more	Copy number gain	See cases	GUncertain significance
Select item 145959	GRCh38/hg38 5q35.3(chr5:179669736-180897169)x1	CANX, CBY3 +85 more	Copy number loss	See cases	GLikely pathogenic
Select item 3045538	NM_005110.4(GFPT2):c.*18G>A	GFPT2	Single nucleotide variant (3 prime UTR variant)	GFPT2-related disorder	GLikely benign
Select item 2377994	NM_005110.4(GFPT2):c.1987G>C (p.Val663Leu)	GFPT2 (V663L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231891	NM_005110.4(GFPT2):c.1951G>A (p.Val651Met)	GFPT2 (V651M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 740247	NM_005110.4(GFPT2):c.1872C>T (p.Asp624=)	GFPT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3099481	NM_005110.4(GFPT2):c.1837C>T (p.Arg613Cys)	GFPT2 (R613C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099480	NM_005110.4(GFPT2):c.1738C>A (p.Pro580Thr)	GFPT2 (P580T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211873	NM_005110.4(GFPT2):c.1735G>A (p.Gly579Arg)	GFPT2 (G579R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363256	NM_005110.4(GFPT2):c.1713C>G (p.Ile571Met)	GFPT2 (I571M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281251	NM_005110.4(GFPT2):c.1688T>G (p.Ile563Arg)	GFPT2 (I563R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600720	NM_005110.4(GFPT2):c.1686G>C (p.Glu562Asp)	GFPT2 (E562D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530359	NM_005110.4(GFPT2):c.1609A>C (p.Thr537Pro)	GFPT2 (T537P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361969	NM_005110.4(GFPT2):c.1525C>T (p.Arg509Cys)	GFPT2 (R509C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520774	NM_005110.4(GFPT2):c.1420G>A (p.Ala474Thr)	GFPT2, LOC112997584 (A474T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374845	NM_005110.4(GFPT2):c.1369C>T (p.Arg457Cys)	GFPT2, LOC112997584 (R457C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328943	NM_005110.4(GFPT2):c.1358G>A (p.Ser453Asn)	GFPT2, LOC112997584 (S453N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363134	NM_005110.4(GFPT2):c.1339G>A (p.Val447Ile)	GFPT2, LOC112997584 (V447I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281250	NM_005110.4(GFPT2):c.1298C>T (p.Ala433Val)	GFPT2, LOC112997584 (A433V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253301	NM_005110.4(GFPT2):c.1289C>T (p.Thr430Ile)	GFPT2, LOC112997584 (T430I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099478	NM_005110.4(GFPT2):c.1260C>G (p.Phe420Leu)	GFPT2 (F420L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099477	NM_005110.4(GFPT2):c.1249G>A (p.Val417Ile)	GFPT2 (V417I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249302	NM_005110.4(GFPT2):c.1231C>T (p.Pro411Ser)	GFPT2 (P411S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593872	NM_005110.4(GFPT2):c.1157G>A (p.Arg386Gln)	GFPT2 (R386Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2497736	NM_005110.4(GFPT2):c.1152+1G>A	GFPT2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2379135	NM_005110.4(GFPT2):c.1106G>A (p.Arg369Gln)	GFPT2 (R369Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783452	NM_005110.4(GFPT2):c.897C>T (p.Ala299=)	GFPT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3099485	NM_005110.4(GFPT2):c.802A>G (p.Ile268Val)	GFPT2 (I268V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412211	NM_005110.4(GFPT2):c.766G>A (p.Val256Met)	GFPT2 (V256M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656148	NM_005110.4(GFPT2):c.765C>T (p.Ala255=)	GFPT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3099484	NM_005110.4(GFPT2):c.763G>T (p.Ala255Ser)	GFPT2 (A255S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656149	NM_005110.4(GFPT2):c.736G>A (p.Ala246Thr)	GFPT2 (A246T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2538475	NM_005110.4(GFPT2):c.709A>G (p.Thr237Ala)	GFPT2 (T237A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530708	NM_005110.4(GFPT2):c.704G>C (p.Cys235Ser)	GFPT2 (C235S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281249	NM_005110.4(GFPT2):c.667T>C (p.Tyr223His)	GFPT2 (Y223H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210772	NM_005110.4(GFPT2):c.638A>G (p.Lys213Arg)	GFPT2 (K213R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254321	NM_005110.4(GFPT2):c.595C>T (p.Arg199Trp)	GFPT2 (R199W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099483	NM_005110.4(GFPT2):c.475A>C (p.Asn159His)	GFPT2 (N159H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296506	NM_005110.4(GFPT2):c.460A>C (p.Lys154Gln)	GFPT2 (K154Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281248	NM_005110.4(GFPT2):c.410G>A (p.Gly137Asp)	GFPT2 (G137D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481778	NM_005110.4(GFPT2):c.410G>C (p.Gly137Ala)	GFPT2 (G137A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099482	NM_005110.4(GFPT2):c.322C>T (p.Arg108Cys)	GFPT2 (R108C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494383	NM_005110.4(GFPT2):c.292G>T (p.Val98Phe)	GFPT2 (V98F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596154	NM_005110.4(GFPT2):c.227T>C (p.Met76Thr)	GFPT2 (M76T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099479	NM_005110.4(GFPT2):c.141C>T (p.His47=)	GFPT2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2461260	NM_005110.4(GFPT2):c.133A>C (p.Asn45His)	GFPT2 (N45H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656150	NM_005110.4(GFPT2):c.102C>T (p.Gly34=)	GFPT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2517421	NM_005110.4(GFPT2):c.86G>A (p.Arg29Gln)	GFPT2 (R29Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363050	NM_005110.4(GFPT2):c.61G>A (p.Glu21Lys)	GFPT2 (E21K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062850	GRCh37/hg19 5q35.3(chr5:177944162-180183615)x3	ADAMTS2, C5orf60 +27 more	Copy number gain	not specified	GUncertain significance
Select item 3062813	GRCh37/hg19 5q35.3(chr5:177944162-180198875)x3	ZNF354A, ZNF354B +27 more	Copy number gain	not specified	GPathogenic
Select item 2684438	GRCh37/hg19 5q35.3(chr5:179565253-180051586)x3	CNOT6, FLT4 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684436	GRCh37/hg19 5q35.3(chr5:178581633-180719789)x3	ADAMTS2, BTNL3 +34 more	Copy number gain	not provided	GUncertain significance
Select item 1809328	GRCh37/hg19 5q35.3(chr5:177746012-179975280)x3	ADAMTS2, C5orf60 +24 more	Copy number gain	not provided	GUncertain significance
Select item 1711097	GRCh37/hg19 5q35.1-35.3(chr5:170350336-180719789)x3	ADAMTS2, ARL10 +117 more	Copy number gain	See cases	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1527207	GRCh37/hg19 5q35.3(chr5:177954576-180198875)	ADAMTS2, C5orf60 +27 more	Copy number gain	not specified	GUncertain significance
Select item 981214	GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3	ADAMTS2, ARL10 +115 more	Copy number gain	5q35 microduplication syndrome	GPathogenic
Select item 979543	GRCh37/hg19 5q35.3(chr5:179522222-179952028)x3	CNOT6, RASGEF1C +2 more	Copy number gain	not provided	GUncertain significance
Select item 979540	GRCh37/hg19 5q35.3(chr5:179528704-179860433)x1	MAPK9, GFPT2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 973605	GRCh37/hg19 5q35.3(chr5:179606925-179807137)x1	GFPT2, MAPK9 +1 more	Copy number loss	Intellectual disability	GUncertain significance
Select item 814764	GRCh37/hg19 5q35.3(chr5:179479838-180695063)x3	OR2V2, TRIM7 +22 more	Copy number gain	not provided	GUncertain significance
Select item 814763	GRCh37/hg19 5q35.3(chr5:178487249-180622216)x4	ADAMTS2, BTNL3 +30 more	Copy number gain	not provided	GUncertain significance
Select item 686512	GRCh37/hg19 5q35.3(chr5:176848982-180719789)x3	ADAMTS2, B4GALT7 +59 more	Copy number gain	not provided	GPathogenic
Select item 626286	Single allele	ADAMTS2, B4GALT7 +80 more	Duplication	not provided	GLikely pathogenic
Select item 625703	GRCh37/hg19 5q35.2-35.3(chr5:174990352-180690937)	ADAMTS2, ARL10 +90 more	Copy number gain	not provided	GPathogenic
Select item 625655	GRCh37/hg19 5q35.3(chr5:177776148-180687012)	ADAMTS2, BTNL3 +43 more	Copy number loss	not provided	GLikely pathogenic
Select item 563137	GRCh37/hg19 5q35.3(chr5:179694142-179799330)x1	MAPK9, GFPT2	Copy number loss	not provided	GUncertain significance
Select item 563136	GRCh37/hg19 5q35.3(chr5:179240909-180035580)x3	GFPT2, SQSTM1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 563131	GRCh37/hg19 5q35.3(chr5:177114088-180719789)x1	ADAMTS2, BTNL3 +50 more	Copy number loss	not provided	GUncertain significance
Select item 443453	GRCh37/hg19 5q35.3(chr5:177535168-180719789)x3	ADAMTS2, BTNL3 +48 more	Copy number gain	See cases	GUncertain significance
Select item 443005	GRCh37/hg19 5q35.2-35.3(chr5:175570677-180719789)x1	ADAMTS2, ARL10 +86 more	Copy number loss	See cases	GPathogenic
Select item 442855	GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3	ADAMTS2, ARL10 +106 more	Copy number gain	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 393911	GRCh37/hg19 5q35.3(chr5:179663119-179857751)x3	GFPT2, MAPK9	Copy number gain	See cases	GUncertain significance
Select item 187821	GRCh37/hg19 5q35.2-35.3(chr5:174397487-180686444)x1	BTNL9, C5orf60 +92 more	Copy number loss	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: 86