ClinVar for Gene (Select 83881) - ClinVar

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Links from Gene

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3294965	NM_031944.3(MIXL1):c.227C>G (p.Pro76Arg)	MIXL1 (P76R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294964	NM_031944.3(MIXL1):c.600A>C (p.Gln200His)	MIXL1 (Q208H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247986	NC_000001.10:g.(?_225591005)_(227174438_?)del	ACBD3, COQ8A +16 more	Deletion	not provided	GPathogenic
Select item 3148877	GRCh37/hg19 1q41-42.12(chr1:216147522-226765691)x1	ACBD3, AIDA +53 more	Copy number loss	not provided	GPathogenic
Select item 3126780	NM_031944.3(MIXL1):c.92C>A (p.Pro31Gln)	MIXL1 (P31Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126778	NM_031944.3(MIXL1):c.487G>T (p.Ala163Ser)	MIXL1 (A171S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126777	NM_031944.3(MIXL1):c.20G>A (p.Arg7His)	MIXL1 (R7H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126775	NM_031944.3(MIXL1):c.170G>C (p.Gly57Ala)	MIXL1 (G57A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616743	NM_031944.3(MIXL1):c.556G>A (p.Glu186Lys)	MIXL1 (E186K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545328	NM_031944.3(MIXL1):c.694T>G (p.Phe232Val)	MIXL1 (F232V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484666	NM_031944.3(MIXL1):c.206G>A (p.Ser69Asn)	MIXL1 (S69N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459922	NM_031944.3(MIXL1):c.628C>G (p.Leu210Val)	MIXL1 (L210V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454207	NM_031944.3(MIXL1):c.620G>T (p.Cys207Phe)	MIXL1 (C215F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402038	NM_031944.3(MIXL1):c.280A>G (p.Ser94Gly)	MIXL1 (S94G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400067	NM_031944.3(MIXL1):c.632C>T (p.Ser211Phe)	MIXL1 (S211F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398689	NM_031944.3(MIXL1):c.611T>C (p.Phe204Ser)	MIXL1 (F204S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396983	NM_031944.3(MIXL1):c.149C>T (p.Ala50Val)	MIXL1 (A50V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380196	NM_031944.3(MIXL1):c.62G>C (p.Arg21Pro)	MIXL1 (R21P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341205	NM_031944.3(MIXL1):c.304G>C (p.Glu102Gln)	LOC129932644, MIXL1 (E102Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341037	NM_031944.3(MIXL1):c.190C>T (p.Pro64Ser)	MIXL1 (P64S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314064	NM_031944.3(MIXL1):c.289C>A (p.Gln97Lys)	MIXL1 (Q97K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250208	NM_031944.3(MIXL1):c.151A>C (p.Thr51Pro)	MIXL1 (T51P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2225642	NM_031944.3(MIXL1):c.76G>T (p.Gly26Cys)	MIXL1 (G26C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1810315	GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3	ABCB10, ACBD3 +113 more	Copy number gain	not provided	Gnot provided
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1527592	GRCh37/hg19 1q42.12-42.2(chr1:226131690-231908227)	ABCB10, ACBD3 +55 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527559	GRCh37/hg19 1q41-42.13(chr1:221303919-227461343)	ACBD3, AIDA +38 more	Copy number gain	not specified	GPathogenic
Select item 1410588	NC_000001.10:g.(?_225591005)_(227174438_?)dup	MIXL1, TMEM63A +16 more	Duplication	not provided	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	ANKRD45, BRINP3 +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 814171	GRCh37/hg19 1q42.12(chr1:226064744-226924455)x3	ITPKB, ACBD3 +10 more	Copy number gain	not provided	GUncertain significance
Select item 814168	GRCh37/hg19 1q41-42.2(chr1:223653722-234591807)x1	FBXO28, ACBD3 +83 more	Copy number loss	not provided	GPathogenic
Select item 814166	GRCh37/hg19 1q41-42.13(chr1:222641389-228137574)x1	PSEN2, FBXO28 +42 more	Copy number loss	not provided	GPathogenic
Select item 814163	GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3	CCDC185, NTPCR +127 more	Copy number gain	not provided	GPathogenic
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 565225	GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3	H2BC26, H3-3A +213 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441866	GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3	ABCB10, ACBD3 +184 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 155156	GRCh38/hg38 1q42.12-42.13(chr1:225382172-230418801)x1	ABCB10, ACBD3 +309 more	Copy number loss	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 147449	GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)x1	ACBD3, ACBD3-AS1 +287 more	Copy number loss	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 more	Copy number gain	See cases	GPathogenic
Select item 146517	GRCh38/hg38 1q42.12-42.2(chr1:226185124-232872488)x1	ABCB10, ACBD3 +313 more	Copy number loss	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932658, LOC129932659 +950 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	ABCB10, ACBD3 +953 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC440742, LYPD8 +955 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 58