ClinVar for Gene (Select 222234) - ClinVar

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Links from Gene

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3278033	NM_001394494.2(FBXL13):c.2360T>A (p.Phe787Tyr)	FAM185A, FBXL13 (F652Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277298	NM_001145268.2(FAM185A):c.703G>A (p.Glu235Lys)	FAM185A (E235K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092139	NM_001145268.2(FAM185A):c.847G>A (p.Gly283Arg)	FAM185A (G283R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092138	NM_001145268.2(FAM185A):c.772A>T (p.Ile258Phe)	FAM185A (I141F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092137	NM_001145268.2(FAM185A):c.701C>A (p.Thr234Asn)	FAM185A (T117N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092136	NM_001145268.2(FAM185A):c.665T>C (p.Ile222Thr)	FAM185A (I222T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092135	NM_001145268.2(FAM185A):c.559A>G (p.Lys187Glu)	FAM185A (K187E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3092134	NM_001145268.2(FAM185A):c.452G>T (p.Gly151Val)	FAM185A (G151V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3092133	NM_001145268.2(FAM185A):c.199T>G (p.Trp67Gly)	FAM185A (W67G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685259	GRCh37/hg19 7q22.1(chr7:102138955-102744237)x1	NFE4, POLR2J2 +11 more	Copy number loss	not provided	GUncertain significance
Select item 2616254	NM_001145268.2(FAM185A):c.818T>C (p.Met273Thr)	FAM185A (M156T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2598626	NM_001145268.2(FAM185A):c.341G>A (p.Gly114Asp)	FAM185A (G114D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2593030	NM_001145268.2(FAM185A):c.1040G>A (p.Arg347His)	FAM185A (R347H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2524332	NM_001394494.2(FBXL13):c.2474C>T (p.Ala825Val)	FAM185A, FBXL13 (A825V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2519937	NM_001145268.2(FAM185A):c.769G>C (p.Asp257His)	FAM185A (D257H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493137	NM_001394494.2(FBXL13):c.2401A>G (p.Asn801Asp)	FAM185A, FBXL13 (N683D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465426	NM_001145268.2(FAM185A):c.836A>G (p.Asp279Gly)	FAM185A (D162G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455849	NM_001394494.2(FBXL13):c.2252G>A (p.Arg751Gln)	FAM185A, FBXL13 (R633Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397377	NM_001145268.2(FAM185A):c.997G>T (p.Asp333Tyr)	FAM185A (D216Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393487	NM_001145268.2(FAM185A):c.494A>G (p.Gln165Arg)	FAM185A (Q165R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2358453	NM_001145268.2(FAM185A):c.521T>C (p.Ile174Thr)	FAM185A (I174T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2346273	NM_001145268.2(FAM185A):c.132C>G (p.Ser44Arg)	FAM185A (S44R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345794	NM_001145268.2(FAM185A):c.1090C>T (p.Arg364Cys)	FAM185A (R364C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249146	NM_001394494.2(FBXL13):c.2320C>A (p.Gln774Lys)	FAM185A, FBXL13 (Q684K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247835	NM_001145268.2(FAM185A):c.869A>C (p.Asn290Thr)	FAM185A (N290T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240921	NM_001394494.2(FBXL13):c.2153C>T (p.Ser718Leu)	FAM185A, FBXL13 (S600L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236981	NM_001145268.2(FAM185A):c.881T>C (p.Ile294Thr)	FAM185A (I294T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208197	NM_001394494.2(FBXL13):c.2148G>A (p.Met716Ile)	FAM185A, FBXL13 (M581I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808822	GRCh37/hg19 7q22.1(chr7:102101275-102406667)x1	ALKBH4, FAM185A +9 more	Copy number loss	not provided	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 815012	GRCh37/hg19 7q22.1(chr7:102333441-102969517)x3	ARMC10, NFE4 +6 more	Copy number gain	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 686718	GRCh37/hg19 7q22.1(chr7:102333119-103158261)x3	ARMC10, DNAJC2 +9 more	Copy number gain	not provided	GUncertain significance
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 563310	GRCh37/hg19 7q22.1(chr7:102333441-102489562)x1	FAM185A, FBXL13	Copy number loss	not provided	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 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 148748	GRCh38/hg38 7q22.1(chr7:102692380-103350914)x3	ARMC10, DNAJC2 +19 more	Copy number gain	See cases	GLikely benign
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
Select item 57092	GRCh38/hg38 7q22.1-22.3(chr7:101525795-105432462)x3	ALKBH4, ARMC10 +149 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 51