TIFAB[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 146119	GRCh38/hg38 5q31.1(chr5:131626503-135815054)x1	ACSL6, ACSL6-AS1 +263 more	Copy number loss	See cases	GPathogenic
Select item 58361	GRCh38/hg38 5q31.1-31.2(chr5:133401565-138437038)x1	BRD8, C5orf15 +230 more	Copy number loss	See cases	GPathogenic
Select item 144268	GRCh38/hg38 5q31.1-31.3(chr5:135297294-140106003)x3	BRD8, CDC23 +236 more	Copy number gain	See cases	GPathogenic
Select item 2558061	NM_130848.3(DCANP1):c.713G>A (p.Arg238Lys)	DCANP1, TIFAB (R238K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520360	NM_130848.3(DCANP1):c.709C>T (p.Arg237Cys)	DCANP1, TIFAB (R237C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221197	NM_130848.3(DCANP1):c.706C>T (p.His236Tyr)	DCANP1, TIFAB (H236Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080368	NM_130848.3(DCANP1):c.697C>G (p.Leu233Val)	DCANP1, TIFAB (L233V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604400	NM_130848.3(DCANP1):c.665T>G (p.Val222Gly)	DCANP1, TIFAB (V222G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080365	NM_130848.3(DCANP1):c.634C>T (p.Leu212Phe)	DCANP1, TIFAB (L212F)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2348226	NM_130848.3(DCANP1):c.617A>G (p.His206Arg)	DCANP1, TIFAB (H206R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250176	NM_130848.3(DCANP1):c.604G>A (p.Ala202Thr)	DCANP1, TIFAB (A202T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331966	NM_130848.3(DCANP1):c.550T>C (p.Trp184Arg)	DCANP1, TIFAB (W184R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372400	NM_130848.3(DCANP1):c.502G>A (p.Glu168Lys)	DCANP1, TIFAB (E168K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3080364	NM_130848.3(DCANP1):c.463C>A (p.Leu155Met)	DCANP1, TIFAB (L155M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080363	NM_130848.3(DCANP1):c.457C>G (p.Leu153Val)	DCANP1, TIFAB (L153V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234784	NM_130848.3(DCANP1):c.436G>A (p.Val146Ile)	DCANP1, TIFAB (V146I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465231	NM_130848.3(DCANP1):c.419C>T (p.Pro140Leu)	DCANP1, TIFAB (P140L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2256010	NM_130848.3(DCANP1):c.353G>A (p.Arg118Lys)	DCANP1, TIFAB (R118K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464440	NM_130848.3(DCANP1):c.311C>T (p.Ala104Val)	DCANP1, TIFAB (A104V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2222334	NM_130848.3(DCANP1):c.247G>C (p.Glu83Gln)	DCANP1, TIFAB (E83Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080361	NM_130848.3(DCANP1):c.175C>G (p.Pro59Ala)	DCANP1, TIFAB (P59A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406917	NM_130848.3(DCANP1):c.125C>A (p.Ser42Tyr)	DCANP1, TIFAB (S42Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080360	NM_130848.3(DCANP1):c.123C>A (p.His41Gln)	DCANP1, TIFAB (H41Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364346	NM_130848.3(DCANP1):c.71A>T (p.Gln24Leu)	DCANP1, TIFAB (Q24L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080366	NM_130848.3(DCANP1):c.67C>A (p.His23Asn)	DCANP1, TIFAB (H23N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397592	NM_130848.3(DCANP1):c.46G>A (p.Gly16Ser)	DCANP1, TIFAB (G16S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294694	NM_001099221.2(TIFAB):c.475G>T (p.Gly159Cys)	TIFAB (G159C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313782	NM_001099221.2(TIFAB):c.433A>G (p.Thr145Ala)	TIFAB (T145A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177432	NM_001099221.2(TIFAB):c.423G>T (p.Glu141Asp)	TIFAB (E141D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272120	NM_001099221.2(TIFAB):c.344G>A (p.Arg115His)	TIFAB (R115H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2326579	NM_001099221.2(TIFAB):c.259A>C (p.Asn87His)	TIFAB (N87H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487113	NM_001099221.2(TIFAB):c.205G>A (p.Ala69Thr)	TIFAB (A69T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2305066	NM_001099221.2(TIFAB):c.194A>G (p.Glu65Gly)	TIFAB (E65G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177431	NM_001099221.2(TIFAB):c.157C>T (p.Leu53Phe)	TIFAB (L53F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177430	NM_001099221.2(TIFAB):c.155G>A (p.Arg52His)	TIFAB (R52H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2570562	NM_001099221.2(TIFAB):c.154C>T (p.Arg52Cys)	TIFAB (R52C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262818	NM_001099221.2(TIFAB):c.142C>G (p.Leu48Val)	TIFAB (L48V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287745	NM_001099221.2(TIFAB):c.130G>A (p.Ala44Thr)	TIFAB (A44T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2465821	NM_001099221.2(TIFAB):c.119G>A (p.Arg40Gln)	TIFAB (R40Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177429	NM_001099221.2(TIFAB):c.118C>T (p.Arg40Trp)	TIFAB (R40W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353895	NM_001099221.2(TIFAB):c.82C>T (p.Arg28Trp)	TIFAB (R28W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177433	NM_001099221.2(TIFAB):c.79C>T (p.Pro27Ser)	TIFAB (P27S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288716	NM_001099221.2(TIFAB):c.65T>C (p.Phe22Ser)	TIFAB (F22S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246504	NC_000005.9:g.(?_133533463)_(135398915_?)dup	C5orf24, CAMLG +21 more	Duplication	not provided	GUncertain significance
Select item 1809383	GRCh37/hg19 5q31.1(chr5:134524754-135283222)x3	CXCL14, DCANP1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1527199	GRCh37/hg19 5q31.1(chr5:132829317-134983855)	C5orf15, C5orf24 +22 more	Copy number loss	not specified	GUncertain significance
Select item 1527198	GRCh37/hg19 5q31.1-31.2(chr5:132031902-137623639)	AFF4, BRD8 +53 more	Copy number loss	not specified	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 624508	GRCh37/hg19 5q23.2-31.2(chr5:126377719-136270989)x1	ACSL6, ADAMTS19 +68 more	Copy number loss	not provided	GLikely pathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	AFF4, CCDC69 +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	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 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

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Items: 58