TWF2[gene] - ClinVar

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Search results

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
Select item 155564	GRCh38/hg38 3p21.2-14.3(chr3:51394434-55064449)x1	ABHD14A, ABHD14A-ACY1 +197 more	Copy number loss	See cases	GLikely pathogenic
Select item 2476309	NM_007284.4(TWF2):c.1046G>T (p.Ser349Ile)	TWF2 (S349I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314583	NM_007284.4(TWF2):c.955T>A (p.Phe319Ile)	TWF2 (F319I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481251	NM_007284.4(TWF2):c.921C>G (p.Phe307Leu)	TWF2 (F307L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366004	NM_007284.4(TWF2):c.874G>A (p.Ala292Thr)	TWF2 (A292T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594279	NM_007284.4(TWF2):c.692G>A (p.Arg231Gln)	TWF2 (R231Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281172	NM_007284.4(TWF2):c.625C>T (p.Arg209Trp)	TWF2 (R209W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233495	NM_007284.4(TWF2):c.434C>T (p.Ala145Val)	TWF2 (A145V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459083	NM_007284.4(TWF2):c.416C>T (p.Ser139Leu)	TWF2 (S139L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236016	NM_007284.4(TWF2):c.349A>G (p.Ile117Val)	TWF2 (I117V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368802	NM_007284.4(TWF2):c.341G>C (p.Gly114Ala)	TWF2 (G114A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319644	NM_007284.4(TWF2):c.215G>T (p.Arg72Leu)	TWF2 (R72L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330334	NM_007284.4(TWF2):c.212A>G (p.Tyr71Cys)	TWF2 (Y71C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373210	NM_007284.4(TWF2):c.143G>A (p.Arg48His)	TWF2 (R48H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235516	NM_007284.4(TWF2):c.142C>G (p.Arg48Gly)	TWF2 (R48G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279232	NM_007284.4(TWF2):c.128A>C (p.Gln43Pro)	TWF2 (Q43P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062680	GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1	ABHD14A, ABHD14B +86 more	Copy number loss	not specified	GPathogenic
Select item 2427145	NC_000003.11:g.(?_52109903)_(53164416_?)del	ALAS1, BAP1 +28 more	Deletion	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2423375	NC_000003.11:g.(?_52018081)_(53845433_?)del	ACY1, ALAS1 +35 more	Deletion	not provided	GUncertain significance
Select item 980509	GRCh37/hg19 3p21.2-21.1(chr3:51975459-52561678)x4	RRP9, SEMA3G +23 more	Copy number gain	not provided	GUncertain significance
Select item 814444	GRCh37/hg19 3p21.2-21.1(chr3:51247306-53069942)x3	ABHD14A, ABHD14B +48 more	Copy number gain	not provided	GUncertain significance
Select item 687764	GRCh37/hg19 3p21.2-21.1(chr3:52195134-52869037)x1	ALAS1, BAP1 +24 more	Copy number loss	not provided	GPathogenic
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 393732	GRCh37/hg19 3p21.2(chr3:52257338-52264976)x3	TLR9, TWF2	Copy number gain	See cases	GLikely benign
Select item 253632	GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)x1	ABHD6, ACOX2 +66 more	Copy number loss	See cases	GPathogenic

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Items: 28