ClinVar for Gene (Select 222255) - ClinVar

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

Links from Gene

Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3333342	NM_020725.2(ATXN7L1):c.2348C>G (p.Ser783Trp)	ATXN7L1 (S567W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333331	NM_020725.2(ATXN7L1):c.607A>G (p.Lys203Glu)	ATXN7L1 (K203E +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3333321	NM_020725.2(ATXN7L1):c.302T>C (p.Val101Ala)	ATXN7L1 (V101A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333300	NM_020725.2(ATXN7L1):c.1712C>T (p.Ser571Leu)	ATXN7L1 (S571L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245840	NC_000007.13:g.(?_102937907)_(108155935_?)del	ATXN7L1, BCAP29 +29 more	Deletion	not provided	GPathogenic
Select item 3132305	NM_020725.2(ATXN7L1):c.986A>T (p.Lys329Ile)	ATXN7L1 (K205I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132304	NM_020725.2(ATXN7L1):c.703G>A (p.Val235Ile)	ATXN7L1 (V235I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132303	NM_020725.2(ATXN7L1):c.654C>A (p.Asn218Lys)	ATXN7L1 (N94K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132302	NM_020725.2(ATXN7L1):c.641A>G (p.Asn214Ser)	ATXN7L1 (N90S +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3132301	NM_020725.2(ATXN7L1):c.619C>G (p.Leu207Val)	ATXN7L1 (L207V +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3132299	NM_020725.2(ATXN7L1):c.500C>T (p.Thr167Met)	ATXN7L1, LOC121175358 (T167M +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3132298	NM_020725.2(ATXN7L1):c.2543G>A (p.Arg848Gln)	ATXN7L1 (R724Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132297	NM_020725.2(ATXN7L1):c.2268C>A (p.Asp756Glu)	ATXN7L1 (D632E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132296	NM_020725.2(ATXN7L1):c.2162C>T (p.Ser721Leu)	ATXN7L1 (S721L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132295	NM_020725.2(ATXN7L1):c.2104A>C (p.Asn702His)	ATXN7L1 (N578H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132294	NM_020725.2(ATXN7L1):c.1909G>A (p.Asp637Asn)	ATXN7L1 (D637N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132293	NM_020725.2(ATXN7L1):c.164A>G (p.Lys55Arg)	ATXN7L1 (K55R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132292	NM_020725.2(ATXN7L1):c.1564C>T (p.His522Tyr)	ATXN7L1 (H398Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132291	NM_020725.2(ATXN7L1):c.1486G>A (p.Val496Ile)	ATXN7L1 (V496I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132290	NM_020725.2(ATXN7L1):c.1427G>A (p.Arg476Gln)	ATXN7L1 (R260Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132289	NM_020725.2(ATXN7L1):c.1393G>A (p.Ala465Thr)	ATXN7L1 (A249T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132288	NM_020725.2(ATXN7L1):c.1339G>A (p.Asp447Asn)	ATXN7L1 (D231N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132287	NM_020725.2(ATXN7L1):c.1055A>C (p.Glu352Ala)	ATXN7L1 (E136A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685260	GRCh37/hg19 7q22.3-31.1(chr7:104536649-109624996)x1	ATXN7L1, BCAP29 +26 more	Copy number loss	not provided	GPathogenic
Select item 2684501	GRCh37/hg19 7q22.3(chr7:104787325-105267284)x3	ATXN7L1, PUS7 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2621965	NM_020725.2(ATXN7L1):c.388C>G (p.Pro130Ala)	ATXN7L1 (P6A +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2606734	NM_020725.2(ATXN7L1):c.835A>G (p.Ser279Gly)	ATXN7L1 (S279G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599433	NM_020725.2(ATXN7L1):c.2416C>T (p.Pro806Ser)	ATXN7L1 (P682S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594437	NM_020725.2(ATXN7L1):c.281A>G (p.His94Arg)	ATXN7L1 (H94R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559060	NM_020725.2(ATXN7L1):c.2392A>G (p.Met798Val)	ATXN7L1 (M674V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533736	NM_020725.2(ATXN7L1):c.1741A>G (p.Thr581Ala)	ATXN7L1 (T365A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533193	NM_020725.2(ATXN7L1):c.220A>C (p.Ser74Arg)	ATXN7L1 (S74R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532203	NM_020725.2(ATXN7L1):c.208G>C (p.Glu70Gln)	ATXN7L1 (E70Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526423	NM_020725.2(ATXN7L1):c.992A>G (p.Gln331Arg)	ATXN7L1 (Q115R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525849	NM_020725.2(ATXN7L1):c.899T>C (p.Leu300Ser)	ATXN7L1 (L176S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521934	NM_020725.2(ATXN7L1):c.422C>T (p.Thr141Ile)	ATXN7L1 (T141I +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2517468	NM_020725.2(ATXN7L1):c.2424C>A (p.Ser808Arg)	ATXN7L1 (S592R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484301	NM_020725.2(ATXN7L1):c.1576C>G (p.Pro526Ala)	ATXN7L1 (P310A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466617	NM_020725.2(ATXN7L1):c.2492T>C (p.Leu831Pro)	ATXN7L1 (L707P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460562	NM_020725.2(ATXN7L1):c.2204C>T (p.Ala735Val)	ATXN7L1 (A735V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427609	NC_000007.13:g.(?_102937907)_(107643330_?)dup	ATXN7L1, BCAP29 +26 more	Duplication	not provided	GUncertain significance
Select item 2424385	NC_000007.13:g.(?_104456677)_(108155935_?)del	ATXN7L1, BCAP29 +23 more	Deletion	not provided	GPathogenic
Select item 2392321	NM_020725.2(ATXN7L1):c.1817C>T (p.Pro606Leu)	ATXN7L1 (P390L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349956	NM_020725.2(ATXN7L1):c.1669A>T (p.Ile557Leu)	ATXN7L1 (I433L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346937	NM_020725.2(ATXN7L1):c.1579G>A (p.Val527Ile)	ATXN7L1 (V403I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318334	NM_020725.2(ATXN7L1):c.1667A>G (p.Tyr556Cys)	ATXN7L1 (Y340C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316219	NM_020725.2(ATXN7L1):c.1001T>C (p.Leu334Pro)	ATXN7L1 (L210P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308166	NM_020725.2(ATXN7L1):c.2257C>T (p.His753Tyr)	ATXN7L1 (H537Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293141	NM_020725.2(ATXN7L1):c.2179G>A (p.Ala727Thr)	ATXN7L1 (A727T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287476	NM_020725.2(ATXN7L1):c.1229G>T (p.Ser410Ile)	ATXN7L1 (S194I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272113	NM_020725.2(ATXN7L1):c.1244A>G (p.Asn415Ser)	ATXN7L1 (N199S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268898	NM_020725.2(ATXN7L1):c.1460G>A (p.Arg487His)	ATXN7L1 (R271H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250493	NM_020725.2(ATXN7L1):c.1893C>A (p.Asp631Glu)	ATXN7L1 (D507E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247323	NM_020725.2(ATXN7L1):c.1081A>G (p.Ile361Val)	ATXN7L1 (I145V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2244191	NM_020725.2(ATXN7L1):c.617A>G (p.Asn206Ser)	ATXN7L1 (N206S +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2241732	NM_020725.2(ATXN7L1):c.1043T>C (p.Val348Ala)	ATXN7L1 (V348A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233285	NM_020725.2(ATXN7L1):c.905C>G (p.Pro302Arg)	ATXN7L1 (P178R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227580	NM_020725.2(ATXN7L1):c.811A>C (p.Lys271Gln)	ATXN7L1 (K147Q +2 more)	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 1527380	GRCh37/hg19 7q22.1-31.31(chr7:100676872-119156160)	ALKBH4, ANKRD7 +95 more	Copy number loss	not specified	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 1098305	GRCh37/hg19 7q22.3(chr7:104696686-105407628)	ATXN7L1, KMT2E +3 more	Copy number loss	O'Donnell-Luria-Rodan syndrome	GPathogenic
Select item 805920	GRCh37/hg19 7q22.3-31.1(chr7:104506008-107408857)	DUS4L, GPR22 +18 more	Copy number loss	See cases	GPathogenic
Select item 805919	GRCh37/hg19 7q22.1-22.3(chr7:103679146-105547471)	ATXN7L1, KMT2E +5 more	Copy number loss	See cases	GLikely pathogenic
Select item 805917	GRCh37/hg19 7q22.1-22.3(chr7:103354482-105407628)	PUS7, ATXN7L1 +6 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 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 154561	GRCh38/hg38 7q22.3-31.1(chr7:105575647-107949294)x1	ATXN7L1, BCAP29 +104 more	Copy number loss	See cases	GUncertain significance
Select item 152078	GRCh38/hg38 7q22.2-22.3(chr7:104434729-106134635)x3	ATXN7L1, CDHR3 +71 more	Copy number gain	See cases	GUncertain significance
Select item 148448	GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	ALKBH4, ANKRD7 +474 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 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 60283	GRCh38/hg38 7q22.1-22.3(chr7:102808199-105701108)x1	ARMC10, ATXN7L1 +86 more	Copy number loss	See cases	GPathogenic
Select item 57255	GRCh38/hg38 7q22.1-31.1(chr7:101807149-112414850)x1	ALKBH4, ARMC10 +292 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 79