TRIL[gene] - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 147609	GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1	ABCB5, ADCYAP1R1 +387 more	Copy number loss	See cases	GPathogenic
Select item 2561257	NM_014817.4(TRIL):c.2362A>G (p.Met788Val)	TRIL (M788V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258526	NM_014817.4(TRIL):c.2338A>G (p.Ile780Val)	TRIL (I780V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462294	NM_014817.4(TRIL):c.2320C>G (p.Leu774Val)	TRIL (L774V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222468	NM_014817.4(TRIL):c.2284T>A (p.Phe762Ile)	TRIL (F762I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537344	NM_014817.4(TRIL):c.2252T>C (p.Met751Thr)	TRIL (M751T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238175	NM_014817.4(TRIL):c.2237G>A (p.Arg746Gln)	TRIL (R746Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356812	NM_014817.4(TRIL):c.2210A>G (p.His737Arg)	TRIL (H737R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600716	NM_014817.4(TRIL):c.2207T>C (p.Val736Ala)	TRIL (V736A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182199	NM_014817.4(TRIL):c.2189G>A (p.Arg730Gln)	TRIL (R730Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182198	NM_014817.4(TRIL):c.2188C>T (p.Arg730Trp)	TRIL (R730W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490029	NM_014817.4(TRIL):c.2179C>T (p.Arg727Trp)	TRIL (R727W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286621	NM_014817.4(TRIL):c.2171G>A (p.Arg724Lys)	TRIL (R724K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182197	NM_014817.4(TRIL):c.2159G>C (p.Arg720Pro)	TRIL (R720P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330898	NM_014817.4(TRIL):c.2153C>T (p.Ala718Val)	TRIL (A718V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182196	NM_014817.4(TRIL):c.2116A>G (p.Asn706Asp)	TRIL (N706D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209344	NM_014817.4(TRIL):c.2088G>C (p.Gln696His)	TRIL (Q696H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182195	NM_014817.4(TRIL):c.2084A>G (p.Tyr695Cys)	TRIL (Y695C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306472	NM_014817.4(TRIL):c.2054C>T (p.Pro685Leu)	TRIL (P685L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356811	NM_014817.4(TRIL):c.1997G>A (p.Gly666Glu)	TRIL (G666E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293723	NM_014817.4(TRIL):c.1964C>T (p.Thr655Ile)	TRIL (T655I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354408	NM_014817.4(TRIL):c.1876C>T (p.Arg626Cys)	TRIL (R626C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590494	NM_014817.4(TRIL):c.1846G>C (p.Gly616Arg)	TRIL (G616R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182193	NM_014817.4(TRIL):c.1762T>C (p.Cys588Arg)	TRIL (C588R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491081	NM_014817.4(TRIL):c.1691C>T (p.Ala564Val)	TRIL (A564V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182192	NM_014817.4(TRIL):c.1664T>G (p.Leu555Arg)	TRIL (L555R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403713	NM_014817.4(TRIL):c.1661G>T (p.Arg554Leu)	TRIL (R554L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569808	NM_014817.4(TRIL):c.1616C>A (p.Ala539Glu)	TRIL (A539E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622089	NM_014817.4(TRIL):c.1597A>G (p.Thr533Ala)	TRIL (T533A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182191	NM_014817.4(TRIL):c.1522T>C (p.Ser508Pro)	TRIL (S508P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3182189	NM_014817.4(TRIL):c.1492G>A (p.Val498Ile)	TRIL (V498I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400849	NM_014817.4(TRIL):c.1460G>A (p.Arg487Gln)	TRIL (R487Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357177	NM_014817.4(TRIL):c.1429G>C (p.Gly477Arg)	TRIL (G477R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182188	NM_014817.4(TRIL):c.1376A>G (p.Gln459Arg)	TRIL (Q459R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2410957	NM_014817.4(TRIL):c.1244C>T (p.Ala415Val)	TRIL (A415V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541073	NM_014817.4(TRIL):c.1072G>C (p.Gly358Arg)	TRIL (G358R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182187	NM_014817.4(TRIL):c.1055A>T (p.Tyr352Phe)	TRIL (Y352F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536449	NM_014817.4(TRIL):c.952C>G (p.Pro318Ala)	TRIL (P318A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182204	NM_014817.4(TRIL):c.686G>C (p.Arg229Pro)	TRIL (R229P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379381	NM_014817.4(TRIL):c.649C>T (p.Pro217Ser)	TRIL (P217S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516428	NM_014817.4(TRIL):c.371C>T (p.Pro124Leu)	TRIL (P124L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239952	NM_014817.4(TRIL):c.370C>T (p.Pro124Ser)	TRIL (P124S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517601	NM_014817.4(TRIL):c.367G>A (p.Ala123Thr)	TRIL (A123T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312920	NM_014817.4(TRIL):c.286C>T (p.Arg96Cys)	TRIL (R96C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327882	NM_014817.4(TRIL):c.285C>G (p.Ile95Met)	TRIL (I95M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462013	NM_014817.4(TRIL):c.224C>A (p.Thr75Lys)	TRIL (T75K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251038	NM_014817.4(TRIL):c.56T>G (p.Leu19Arg)	TRIL (L19R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215534	NM_014817.4(TRIL):c.38T>C (p.Val13Ala)	TRIL (V13A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182203	NM_014817.4(TRIL):c.37G>A (p.Val13Met)	TRIL (V13M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182202	NM_014817.4(TRIL):c.26T>C (p.Leu9Pro)	TRIL (L9P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302906	NM_014817.4(TRIL):c.23G>A (p.Arg8His)	TRIL (R8H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182190	NM_014817.4(TRIL):c.14G>T (p.Arg5Leu)	TRIL (R5L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063000	GRCh37/hg19 7p14.3(chr7:28940557-31806164)x3	ADCYAP1R1, AQP1 +21 more	Copy number gain	not specified	GUncertain significance
Select item 3062983	GRCh37/hg19 7p21.1-14.3(chr7:17736012-30663423)x1	ABCB5, CBX3 +75 more	Copy number loss	not specified	GPathogenic
Select item 2685042	GRCh37/hg19 7p14.3(chr7:28871712-29219094)x4	CPVL, TRIL	Copy number gain	not provided	GUncertain significance
Select item 1809379	GRCh37/hg19 7p15.2-14.3(chr7:27133786-34466477)x1	ADCYAP1R1, AQP1 +50 more	Copy number loss	not provided	GPathogenic
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 1703687	GRCh37/hg19 7p15.3-14.3(chr7:25451740-33864069)	ADCYAP1R1, AQP1 +55 more	Copy number loss	Cyclical vomiting syndrome	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527345	GRCh37/hg19 7p15.2-14.1(chr7:27507832-39072473)	ADCYAP1R1, AMPH +53 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527336	GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167)	ABCB5, ADCYAP1R1 +117 more	Copy number gain	not specified	GLikely pathogenic
Select item 814949	GRCh37/hg19 7p15.1-14.3(chr7:28487175-32037495)x3	GHRHR, INMT +22 more	Copy number gain	not provided	GLikely pathogenic
Select item 814947	GRCh37/hg19 7p15.3-14.3(chr7:23877135-33139446)x1	FKBP14, HNRNPA2B1 +61 more	Copy number loss	not provided	GPathogenic
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 599189	NC_000007.13:g.23236782_30690453del7453672	NFE2L3, NOD1 +53 more	Deletion	Silver Russell Syndrome-related disorder	GPathogenic
Select item 443816	GRCh37/hg19 7p15.2-14.3(chr7:27720090-29219094)x3	CPVL, CREB5 +3 more	Copy number gain	See cases	GUncertain significance
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 442824	GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3	ABCB5, ACTB +158 more	Copy number gain	See cases	GPathogenic
Select item 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	RP9, SCIN +196 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395204	GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3	ABCB5, ADCYAP1R1 +119 more	Copy number gain	See cases	GPathogenic
Select item 253643	GRCh37/hg19 7p15.3-14.3(chr7:22935369-32621975)x1	ADCYAP1R1, AQP1 +68 more	Copy number loss	See cases	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 77