22210[HGNC] - ClinVar

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Items: 79

	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 57255	GRCh38/hg38 7q22.1-31.1(chr7:101807149-112414850)x1	ALKBH4, ARMC10 +292 more	Copy number loss	See cases	GPathogenic
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 60283	GRCh38/hg38 7q22.1-22.3(chr7:102808199-105701108)x1	ARMC10, ATXN7L1 +86 more	Copy number loss	See cases	GPathogenic
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 154561	GRCh38/hg38 7q22.3-31.1(chr7:105575647-107949294)x1	ATXN7L1, BCAP29 +104 more	Copy number loss	See cases	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 3333321	NM_020725.2(ATXN7L1):c.302T>C (p.Val101Ala)	ATXN7L1 (V101A)	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 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 3132293	NM_020725.2(ATXN7L1):c.164A>G (p.Lys55Arg)	ATXN7L1 (K55R)	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 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 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 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

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Items: 79