TRIP6[gene] - ClinVar

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

Search results

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	ACHE, ACTL6B +300 more	Copy number gain	See cases	GPathogenic
Select item 146501	GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1	ACHE, ACTL6B +310 more	Copy number loss	See cases	GPathogenic
Select item 60280	GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1	ACHE, ACTL6B +228 more	Copy number loss	See cases	GPathogenic
Select item 149050	GRCh38/hg38 7q22.1(chr7:99932610-102473188)x3	ACHE, ACTL6B +283 more	Copy number gain	See cases	GUncertain significance
Select item 60281	GRCh38/hg38 7q22.1(chr7:100419914-102482826)x1	ACHE, ACTL6B +207 more	Copy number loss	See cases	GPathogenic
Select item 2614019	NM_003302.3(TRIP6):c.10C>T (p.Pro4Ser)	LOC129998985, TRIP6 (P4S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387355	NM_003302.3(TRIP6):c.35C>G (p.Pro12Arg)	LOC129998985, TRIP6 (P12R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379919	NM_003302.3(TRIP6):c.35C>T (p.Pro12Leu)	LOC129998985, TRIP6 (P12L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329028	NM_003302.3(TRIP6):c.70C>T (p.Pro24Ser)	LOC129998985, TRIP6 (P24S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182945	NM_003302.3(TRIP6):c.83C>T (p.Pro28Leu)	LOC129998985, TRIP6 (P28L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517600	NM_003302.3(TRIP6):c.102C>G (p.His34Gln)	LOC129998985, TRIP6 (H34Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230820	NM_003302.3(TRIP6):c.182C>T (p.Pro61Leu)	TRIP6 (P61L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364260	NM_003302.3(TRIP6):c.191G>A (p.Arg64Gln)	TRIP6 (R64Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218951	NM_003302.3(TRIP6):c.211T>G (p.Ser71Ala)	TRIP6 (S71A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220421	NM_003302.3(TRIP6):c.290T>C (p.Ile97Thr)	LOC129998986, TRIP6 (I97T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781044	NM_003302.3(TRIP6):c.350G>A (p.Arg117Gln)	TRIP6 (R117Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2390091	NM_003302.3(TRIP6):c.359G>A (p.Arg120Gln)	TRIP6 (R120Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597325	NM_003302.3(TRIP6):c.377C>T (p.Pro126Leu)	TRIP6 (P126L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2372169	NM_003302.3(TRIP6):c.394C>T (p.Arg132Cys)	TRIP6 (R132C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182942	NM_003302.3(TRIP6):c.395G>A (p.Arg132His)	TRIP6 (R132H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329030	NM_003302.3(TRIP6):c.442C>G (p.Pro148Ala)	TRIP6 (P148A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406130	NM_003302.3(TRIP6):c.488C>T (p.Pro163Leu)	TRIP6 (P163L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329033	NM_003302.3(TRIP6):c.505C>T (p.Pro169Ser)	TRIP6 (P169S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329034	NM_003302.3(TRIP6):c.529C>T (p.Pro177Ser)	TRIP6 (P177S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232646	NM_003302.3(TRIP6):c.563C>T (p.Ala188Val)	TRIP6 (A188V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380047	NM_003302.3(TRIP6):c.569A>G (p.Gln190Arg)	TRIP6 (Q190R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329032	NM_003302.3(TRIP6):c.587C>T (p.Pro196Leu)	TRIP6 (P196L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182943	NM_003302.3(TRIP6):c.763G>C (p.Glu255Gln)	TRIP6 (E255Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182944	NM_003302.3(TRIP6):c.817G>A (p.Gly273Arg)	TRIP6 (G273R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273881	NM_003302.3(TRIP6):c.853G>C (p.Asp285His)	TRIP6 (D285H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329029	NM_003302.3(TRIP6):c.877G>T (p.Val293Phe)	TRIP6 (V293F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182946	NM_003302.3(TRIP6):c.946G>A (p.Gly316Ser)	TRIP6 (G316S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618135	NM_003302.3(TRIP6):c.1000G>A (p.Ala334Thr)	TRIP6 (A334T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345411	NM_003302.3(TRIP6):c.1022C>T (p.Thr341Met)	TRIP6 (T341M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520082	NM_003302.3(TRIP6):c.1073A>G (p.Tyr358Cys)	TRIP6 (Y358C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386286	NM_003302.3(TRIP6):c.1097T>C (p.Val366Ala)	TRIP6 (V366A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329031	NM_003302.3(TRIP6):c.1108C>T (p.Arg370Cys)	TRIP6 (R370C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302056	NM_003302.3(TRIP6):c.1109G>A (p.Arg370His)	TRIP6 (R370H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363287	NM_003302.3(TRIP6):c.1162A>G (p.Ile388Val)	TRIP6 (I388V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338811	NM_003302.3(TRIP6):c.1216A>G (p.Ile406Val)	TRIP6 (I406V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182940	NM_003302.3(TRIP6):c.1327G>T (p.Gly443Cys)	TRIP6 (G443C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353412	NM_003302.3(TRIP6):c.1390C>T (p.Arg464Cys)	TRIP6 (R464C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618820	NM_003302.3(TRIP6):c.1414G>A (p.Val472Ile)	TRIP6 (V472I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542389	NM_003302.3(TRIP6):c.1418C>T (p.Thr473Ile)	TRIP6 (T473I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245893	NC_000007.13:g.(?_94024344)_(100860555_?)del	ACHE, ACTL6B +106 more	Deletion	not provided	GPathogenic
Select item 3062972	GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1	ACHE, ACTL6B +93 more	Copy number loss	not specified	GLikely pathogenic
Select item 3062968	GRCh37/hg19 7q22.1(chr7:100454649-101886704)x1	ACHE, AP1S1 +20 more	Copy number loss	not specified	GPathogenic
Select item 2685254	GRCh37/hg19 7q22.1(chr7:99114000-101878272)x1	CYP3A4, CYP3A43 +73 more	Copy number loss	not provided	GPathogenic
Select item 2424700	NC_000007.13:g.(?_98507659)_(100860555_?)dup	ACHE, ACTL6B +79 more	Duplication	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527379	GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308)	ACHE, ACTL6B +123 more	Copy number loss	not specified	GPathogenic
Select item 1373858	NC_000007.13:g.(?_98983338)_(100860555_?)del	ACHE, ACTL6B +75 more	Deletion	not provided	GUncertain significance
Select item 929826	GRCh37/hg19 7q22.1(chr7:99593346-102470275)x1	ACHE, ACTL6B +77 more	Copy number loss	See cases	GLikely pathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563415	GRCh37/hg19 7q22.1(chr7:98847725-102472176)x1	CYP3A43, GJC3 +99 more	Copy number loss	not provided	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	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: 63