ClinVar for Gene (Select 83862) - ClinVar

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Links from Gene

Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3178467	NM_031925.3(TMEM120A):c.922C>A (p.Leu308Ile)	TMEM120A (L308I)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3178466	NM_031925.3(TMEM120A):c.870G>A (p.Ala290=)	TMEM120A (R303H)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3178465	NM_031925.3(TMEM120A):c.547A>C (p.Ile183Leu)	TMEM120A (I183L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178464	NM_031925.3(TMEM120A):c.393C>A (p.Asp131Glu)	TMEM120A (D131E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178463	NM_031925.3(TMEM120A):c.212C>T (p.Ser71Phe)	TMEM120A (S71F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178462	NM_031925.3(TMEM120A):c.160C>G (p.Gln54Glu)	TMEM120A (Q54E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062971	GRCh37/hg19 7q11.23(chr7:72732819-76003862)x3	ABHD11, ABHD11-AS1 +43 more	Copy number gain	not specified	GPathogenic
Select item 2588381	NM_031925.3(TMEM120A):c.69C>A (p.Phe23Leu)	LOC129998686, TMEM120A (F23L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547615	NM_031925.3(TMEM120A):c.643A>G (p.Met215Val)	TMEM120A (H249R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547333	NM_031925.3(TMEM120A):c.995A>T (p.Lys332Met)	TMEM120A (Q311H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2539896	NM_031925.3(TMEM120A):c.927G>A (p.Met309Ile)	TMEM120A (M309I)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2535828	NM_031925.3(TMEM120A):c.140G>A (p.Cys47Tyr)	TMEM120A (C47Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531059	NM_031925.3(TMEM120A):c.17C>T (p.Pro6Leu)	LOC129998686, TMEM120A (P6L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508113	NM_031925.3(TMEM120A):c.626C>T (p.Thr209Met)	TMEM120A (T209M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2493472	NM_031925.3(TMEM120A):c.983T>A (p.Val328Asp)	TMEM120A (V328D)	Single nucleotide variant (synonymous variant +3 more)	not specified	GUncertain significance
Select item 2491361	NM_031925.3(TMEM120A):c.350A>G (p.Asn117Ser)	TMEM120A (N117S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458164	NM_031925.3(TMEM120A):c.147C>A (p.Ser49Arg)	TMEM120A (S49R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425825	NC_000007.13:g.(?_75583311)_(75988125_?)dup	HSPB1, MDH2 +5 more	Duplication	not provided	GUncertain significance
Select item 2425446	NC_000007.13:g.(?_75583311)_(75695728_?)dup	MDH2, POR +2 more	Duplication	not provided	GUncertain significance
Select item 2404951	NM_031925.3(TMEM120A):c.100C>T (p.Arg34Cys)	TMEM120A (R34C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397964	NM_031925.3(TMEM120A):c.808C>T (p.Arg270Trp)	TMEM120A (R270W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367867	NM_031925.3(TMEM120A):c.356C>T (p.Thr119Met)	TMEM120A (T119M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362269	NM_031925.3(TMEM120A):c.454C>T (p.Arg152Cys)	TMEM120A (R152C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351806	NM_031925.3(TMEM120A):c.637G>A (p.Gly213Ser)	TMEM120A (G213S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349069	NM_031925.3(TMEM120A):c.746G>A (p.Arg249Gln)	TMEM120A (R249Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2328822	NM_031925.3(TMEM120A):c.208C>T (p.Pro70Ser)	TMEM120A (P70S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305661	NM_031925.3(TMEM120A):c.331C>G (p.Leu111Val)	TMEM120A (L111V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285382	NM_031925.3(TMEM120A):c.1015G>A (p.Gly339Arg)	TMEM120A (R318Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2280647	NM_031925.3(TMEM120A):c.394G>A (p.Glu132Lys)	TMEM120A (E132K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261124	NM_031925.3(TMEM120A):c.727G>A (p.Gly243Ser)	TMEM120A (R277Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253826	NM_031925.3(TMEM120A):c.238G>A (p.Ala80Thr)	TMEM120A (A80T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241258	NM_031925.3(TMEM120A):c.268C>T (p.Arg90Cys)	TMEM120A (R90C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223026	NM_031925.3(TMEM120A):c.931G>A (p.Gly311Ser)	TMEM120A (G311S)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 1808137	GRCh37/hg19 7q11.23(chr7:75146858-75995207)x3	SRRM3, YWHAG +9 more	Copy number gain	not provided	GUncertain significance
Select item 1807990	GRCh37/hg19 7q11.23(chr7:75091880-75951903)x3	CCL24, CCL26 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1807835	GRCh37/hg19 7q11.23(chr7:75085014-76007380)x1	CCL24, CCL26 +11 more	Copy number loss	not provided	GLikely pathogenic
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 1411434	NC_000007.13:g.(?_75583311)_(75988125_?)del	SRRM3, STYXL1 +5 more	Deletion	not provided	GUncertain significance
Select item 1342322	NC_000007.14:g.(75058300_?)_(?_79083658)del	APTR, CCDC146 +126 more	Deletion	Distal 7q11.23 microdeletion syndrome	GPathogenic
Select item 1340884	GRCh37/hg19 7q11.23(chr7:75591417-75729363)x1	MDH2, POR +2 more	Copy number loss	not provided	GUncertain significance
Select item 979622	GRCh37/hg19 7q11.23(chr7:72403117-76709600)x1	TBL2, TMEM120A +50 more	Copy number loss	not provided	GPathogenic
Select item 910530	NM_031925.3(TMEM120A):c.*305A>C	POR, TMEM120A	Single nucleotide variant	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GUncertain significance
Select item 910529	NM_031925.3(TMEM120A):c.*313C>T	POR, TMEM120A	Single nucleotide variant	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GUncertain significance
Select item 814990	GRCh37/hg19 7q11.23(chr7:72621722-76007380)x1	VPS37D, CLDN4 +44 more	Copy number loss	not provided	GPathogenic
Select item 688947	GRCh37/hg19 7q11.23(chr7:75233243-76007283)x3	CCL24, CCL26 +9 more	Copy number gain	not provided	GUncertain significance
Select item 688612	GRCh37/hg19 7q11.23(chr7:75076890-76007283)x3	CCL24, CCL26 +11 more	Copy number gain	not provided	GUncertain significance
Select item 687818	GRCh37/hg19 7q11.23(chr7:75091878-76117614)x1	CCL24, CCL26 +14 more	Copy number loss	not provided	GUncertain significance
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 625630	GRCh37/hg19 7q11.23(chr7:72744494-76038818)	ABHD11, ABHD11-AS1 +44 more	Copy number loss	Williams syndrome	GPathogenic
Select item 563386	GRCh37/hg19 7q11.23(chr7:75082354-76007380)x1	POR, YWHAG +11 more	Copy number loss	not provided	GLikely pathogenic
Select item 563385	GRCh37/hg19 7q11.23(chr7:75085013-75995207)x3	SRRM3, CCL26 +11 more	Copy number gain	not provided	GUncertain significance
Select item 563383	GRCh37/hg19 7q11.23(chr7:75384846-76279036)x3	STYXL1, CCL24 +12 more	Copy number gain	not provided	GUncertain significance
Select item 560111	Single allele	CACNA2D1, ERVW-1 +91 more	Deletion	not provided	GUncertain significance
Select item 443046	GRCh37/hg19 7q11.23(chr7:75155154-75729363)x1	CCL24, CCL26 +6 more	Copy number loss	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 441923	GRCh37/hg19 7q11.23(chr7:72456604-76007380)x1	ABHD11, ABHD11-AS1 +44 more	Copy number loss	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 360732	NM_031925.3(TMEM120A):c.*319C>T	POR, TMEM120A	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GUncertain significance
Select item 253341	GRCh37/hg19 7q11.23(chr7:73591993-75914797)x1	GTF2IRD1, CLIP2 +22 more	Copy number loss	See cases	GLikely pathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 155387	GRCh38/hg38 7q11.22-21.11(chr7:72179092-79164071)	ABHD11, ABHD11-AS1 +285 more	Copy number gain	See cases	GLikely pathogenic
Select item 154313	GRCh38/hg38 7q11.23-21.11(chr7:74377395-82031742)x1	APTR, CACNA2D1 +194 more	Copy number loss	See cases	GPathogenic
Select item 147350	GRCh38/hg38 7q11.23(chr7:75568161-76584760)x1	CCL24, CCL26 +63 more	Copy number loss	See cases	GUncertain significance
Select item 146877	GRCh38/hg38 7q11.23(chr7:75529854-76611483)x1	CCL24, CCL26 +65 more	Copy number loss	See cases	GPathogenic
Select item 146678	GRCh38/hg38 7q11.23(chr7:75529854-76626561)x3	CCL24, CCL26 +65 more	Copy number gain	See cases	GUncertain significance
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 144156	GRCh38/hg38 7q11.23(chr7:73352304-76722261)x1	LOC129998696, LOC129998697 +219 more	Copy number loss	See cases	GPathogenic
Select item 60279	GRCh38/hg38 7q11.23-21.11(chr7:75496701-78375575)x1	APTR, CCDC146 +109 more	Copy number loss	See cases	GPathogenic
Select item 60244	GRCh38/hg38 7q11.23-21.11(chr7:73873420-83988860)x1	APTR, CACNA2D1 +249 more	Copy number loss	See cases	GPathogenic
Select item 60237	GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1	SPDYE12, SPDYE13 +330 more	Copy number loss	See cases	GPathogenic
Select item 58896	GRCh38/hg38 7q11.23(chr7:75769688-76066509)x1	CCL24, CCL26 +25 more	Copy number loss	See cases	GUncertain significance
Select item 57573	GRCh38/hg38 7q11.23(chr7:75526437-76499472)x1	CCL24, CCL26 +63 more	Copy number loss	See cases	GUncertain significance
Select item 57096	GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1	ABHD11, ABHD11-AS1 +317 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 75