ClinVar for Gene (Select 9945) - ClinVar

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Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3281250	NM_005110.4(GFPT2):c.1298C>T (p.Ala433Val)	GFPT2, LOC112997584 (A433V)	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 3281248	NM_005110.4(GFPT2):c.410G>A (p.Gly137Asp)	GFPT2 (G137D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3099484	NM_005110.4(GFPT2):c.763G>T (p.Ala255Ser)	GFPT2 (A255S)	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 3099482	NM_005110.4(GFPT2):c.322C>T (p.Arg108Cys)	GFPT2 (R108C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3099479	NM_005110.4(GFPT2):c.141C>T (p.His47=)	GFPT2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 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 3045538	NM_005110.4(GFPT2):c.*18G>A	GFPT2	Single nucleotide variant (3 prime UTR variant)	GFPT2-related disorder	GLikely benign
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 2656150	NM_005110.4(GFPT2):c.102C>T (p.Gly34=)	GFPT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2656148	NM_005110.4(GFPT2):c.765C>T (p.Ala255=)	GFPT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2596154	NM_005110.4(GFPT2):c.227T>C (p.Met76Thr)	GFPT2 (M76T)	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 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 2530359	NM_005110.4(GFPT2):c.1609A>C (p.Thr537Pro)	GFPT2 (T537P)	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 2517421	NM_005110.4(GFPT2):c.86G>A (p.Arg29Gln)	GFPT2 (R29Q)	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 2494383	NM_005110.4(GFPT2):c.292G>T (p.Val98Phe)	GFPT2 (V98F)	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 2461260	NM_005110.4(GFPT2):c.133A>C (p.Asn45His)	GFPT2 (N45H)	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 2379135	NM_005110.4(GFPT2):c.1106G>A (p.Arg369Gln)	GFPT2 (R369Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2374845	NM_005110.4(GFPT2):c.1369C>T (p.Arg457Cys)	GFPT2, LOC112997584 (R457C)	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 2363134	NM_005110.4(GFPT2):c.1339G>A (p.Val447Ile)	GFPT2, LOC112997584 (V447I)	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 2361969	NM_005110.4(GFPT2):c.1525C>T (p.Arg509Cys)	GFPT2 (R509C)	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 2296506	NM_005110.4(GFPT2):c.460A>C (p.Lys154Gln)	GFPT2 (K154Q)	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 2253301	NM_005110.4(GFPT2):c.1289C>T (p.Thr430Ile)	GFPT2, LOC112997584 (T430I)	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 2231891	NM_005110.4(GFPT2):c.1951G>A (p.Val651Met)	GFPT2 (V651M)	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 2210772	NM_005110.4(GFPT2):c.638A>G (p.Lys213Arg)	GFPT2 (K213R)	Single nucleotide variant (missense variant)	not specified	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 783452	NM_005110.4(GFPT2):c.897C>T (p.Ala299=)	GFPT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 740247	NM_005110.4(GFPT2):c.1872C>T (p.Asp624=)	GFPT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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
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 153687	GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1	LOC129995359, LOC129995360 +386 more	Copy number loss	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 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 145959	GRCh38/hg38 5q35.3(chr5:179669736-180897169)x1	CANX, CBY3 +85 more	Copy number loss	See cases	GLikely pathogenic
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 58123	GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3	ADAMTS2, ARL10 +292 more	Copy number gain	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 57495	GRCh38/hg38 5q35.3(chr5:178529878-181269805)x3	ADAMTS2, BTNL3 +203 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Links from Gene

Items: 86