ClinVar for Gene (Select 7205) - ClinVar

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Links from Gene

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3329033	NM_003302.3(TRIP6):c.505C>T (p.Pro169Ser)	TRIP6 (P169S)	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 3329031	NM_003302.3(TRIP6):c.1108C>T (p.Arg370Cys)	TRIP6 (R370C)	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 3329029	NM_003302.3(TRIP6):c.877G>T (p.Val293Phe)	TRIP6 (V293F)	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 3245893	NC_000007.13:g.(?_94024344)_(100860555_?)del	ACHE, ACTL6B +106 more	Deletion	not provided	GPathogenic
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 3182945	NM_003302.3(TRIP6):c.83C>T (p.Pro28Leu)	LOC129998985, TRIP6 (P28L)	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 3182943	NM_003302.3(TRIP6):c.763G>C (p.Glu255Gln)	TRIP6 (E255Q)	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 3182940	NM_003302.3(TRIP6):c.1327G>T (p.Gly443Cys)	TRIP6 (G443C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2618820	NM_003302.3(TRIP6):c.1414G>A (p.Val472Ile)	TRIP6 (V472I)	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 2614019	NM_003302.3(TRIP6):c.10C>T (p.Pro4Ser)	LOC129998985, TRIP6 (P4S)	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 2542389	NM_003302.3(TRIP6):c.1418C>T (p.Thr473Ile)	TRIP6 (T473I)	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 2517600	NM_003302.3(TRIP6):c.102C>G (p.His34Gln)	LOC129998985, TRIP6 (H34Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424700	NC_000007.13:g.(?_98507659)_(100860555_?)dup	ACHE, ACTL6B +79 more	Duplication	not provided	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 2390091	NM_003302.3(TRIP6):c.359G>A (p.Arg120Gln)	TRIP6 (R120Q)	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 2386286	NM_003302.3(TRIP6):c.1097T>C (p.Val366Ala)	TRIP6 (V366A)	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 2379919	NM_003302.3(TRIP6):c.35C>T (p.Pro12Leu)	LOC129998985, TRIP6 (P12L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2364260	NM_003302.3(TRIP6):c.191G>A (p.Arg64Gln)	TRIP6 (R64Q)	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 2353412	NM_003302.3(TRIP6):c.1390C>T (p.Arg464Cys)	TRIP6 (R464C)	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 2338811	NM_003302.3(TRIP6):c.1216A>G (p.Ile406Val)	TRIP6 (I406V)	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 2273881	NM_003302.3(TRIP6):c.853G>C (p.Asp285His)	TRIP6 (D285H)	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 2230820	NM_003302.3(TRIP6):c.182C>T (p.Pro61Leu)	TRIP6 (P61L)	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 2218951	NM_003302.3(TRIP6):c.211T>G (p.Ser71Ala)	TRIP6 (S71A)	Single nucleotide variant (missense variant)	not specified	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 781044	NM_003302.3(TRIP6):c.350G>A (p.Arg117Gln)	TRIP6 (R117Q)	Single nucleotide variant (missense variant)	not provided	GBenign
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
Select item 149050	GRCh38/hg38 7q22.1(chr7:99932610-102473188)x3	ACHE, ACTL6B +283 more	Copy number gain	See cases	GUncertain significance
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 146501	GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1	ACHE, ACTL6B +310 more	Copy number loss	See cases	GPathogenic
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 60281	GRCh38/hg38 7q22.1(chr7:100419914-102482826)x1	ACHE, ACTL6B +207 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 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	ACHE, ACTL6B +300 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 63