ClinVar for Gene (Select 136227) - ClinVar

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Links from Gene

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3268678	NM_001278563.3(COL26A1):c.902C>A (p.Ala301Glu)	COL26A1 (A301E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147510	NM_001278563.3(COL26A1):c.925C>T (p.Pro309Ser)	COL26A1 (P309S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147509	NM_001278563.3(COL26A1):c.839C>T (p.Pro280Leu)	COL26A1 (P280L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147508	NM_001278563.3(COL26A1):c.698C>T (p.Pro233Leu)	COL26A1 (P233L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147507	NM_001278563.3(COL26A1):c.637G>C (p.Ala213Pro)	COL26A1 (A211P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147506	NM_001278563.3(COL26A1):c.611C>T (p.Pro204Leu)	COL26A1 (P202L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147505	NM_001278563.3(COL26A1):c.593C>T (p.Thr198Met)	COL26A1 (T198M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147504	NM_001278563.3(COL26A1):c.592A>C (p.Thr198Pro)	COL26A1 (T196P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147503	NM_001278563.3(COL26A1):c.425G>A (p.Arg142Gln)	COL26A1 (R140Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147502	NM_001278563.3(COL26A1):c.221C>T (p.Thr74Met)	COL26A1 (T74M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147501	NM_001278563.3(COL26A1):c.1103G>A (p.Arg368Lys)	COL26A1 (R366K +1 more)	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 2684498	GRCh37/hg19 7q22.1(chr7:100872231-101464440)x3	CLDN15, COL26A1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684496	GRCh37/hg19 7q22.1(chr7:100532371-101116321)x3	AP1S1, CLDN15 +13 more	Copy number gain	not provided	GUncertain significance
Select item 2624261	NM_001278563.3(COL26A1):c.521C>T (p.Pro174Leu)	COL26A1 (P172L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619169	NM_001278563.3(COL26A1):c.982C>A (p.Pro328Thr)	COL26A1 (P326T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607079	NM_001278563.3(COL26A1):c.106G>C (p.Gly36Arg)	COL26A1 (G36R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559154	NM_001278563.3(COL26A1):c.607C>T (p.Pro203Ser)	COL26A1 (P201S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524067	NM_001278563.3(COL26A1):c.578G>T (p.Arg193Leu)	COL26A1 (R191L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492156	NM_001278563.3(COL26A1):c.646C>G (p.Pro216Ala)	COL26A1 (P216A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486322	NM_001278563.3(COL26A1):c.925C>A (p.Pro309Thr)	COL26A1 (P307T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484564	NM_001278563.3(COL26A1):c.725C>T (p.Pro242Leu)	COL26A1 (P242L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482262	NM_001278563.3(COL26A1):c.719C>T (p.Pro240Leu)	COL26A1 (P240L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458505	NM_001278563.3(COL26A1):c.106G>A (p.Gly36Ser)	COL26A1 (G36S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402506	NM_001278563.3(COL26A1):c.944C>A (p.Pro315His)	COL26A1 (P313H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335891	NM_001278563.3(COL26A1):c.563C>T (p.Ala188Val)	COL26A1 (A186V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332244	NM_001278563.3(COL26A1):c.28G>A (p.Ala10Thr)	COL26A1 (A10T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308066	NM_001278563.3(COL26A1):c.754C>T (p.Pro252Ser)	COL26A1 (P252S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292350	NM_001278563.3(COL26A1):c.674C>G (p.Thr225Arg)	COL26A1 (T223R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287818	NM_001278563.3(COL26A1):c.326C>T (p.Thr109Met)	COL26A1 (T107M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287161	NM_001278563.3(COL26A1):c.290C>T (p.Thr97Ile)	COL26A1 (T97I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275870	NM_001278563.3(COL26A1):c.149C>G (p.Ala50Gly)	COL26A1 (A50G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207250	NM_001278563.3(COL26A1):c.862G>A (p.Asp288Asn)	COL26A1 (D288N +1 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 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 441901	GRCh37/hg19 7q22.1(chr7:100884470-101699764)x1	COL26A1, CUX1 +3 more	Copy number loss	See cases	GUncertain significance
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395425	GRCh37/hg19 7q22.1(chr7:100980697-101101497)x1	COL26A1	Copy number loss	See cases	GBenign
Select item 395424	GRCh37/hg19 7q22.1(chr7:100980697-101101497)x3	COL26A1	Copy number gain	See cases	GBenign
Select item 253694	GRCh37/hg19 7q22.1(chr7:100980697-101577640)x3	MYL10, COL26A1 +1 more	Copy number gain	See cases	GUncertain significance
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 221829	GRCh37/hg19 7q22.1(chr7:100968363-101127455)x3	COL26A1	Copy number gain	Premature ovarian failure	GBenign
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 145884	GRCh38/hg38 7q22.1(chr7:101337416-101483054)x3	COL26A1, LOC121175355 +1 more	Copy number gain	See cases	GBenign/Likely benign
Select item 60281	GRCh38/hg38 7q22.1(chr7:100419914-102482826)x1	ACHE, ACTL6B +207 more	Copy number loss	See cases	GPathogenic
Select item 57092	GRCh38/hg38 7q22.1-22.3(chr7:101525795-105432462)x3	ALKBH4, ARMC10 +149 more	Copy number gain	See cases	GPathogenic

ClinVar

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Germline classification

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Links from Gene

Items: 59