ClinVar for Gene (Select 60672) - ClinVar

Links from Gene

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3294869	NM_021933.4(MIIP):c.119G>A (p.Ser40Asn)	MIIP (S40N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294868	NM_021933.4(MIIP):c.194C>T (p.Ser65Phe)	MIIP (S65F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294867	NM_021933.4(MIIP):c.583C>T (p.Pro195Ser)	MIIP (P195S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294866	NM_021933.4(MIIP):c.502A>G (p.Arg168Gly)	MIIP (R168G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294865	NM_021933.4(MIIP):c.208C>T (p.Arg70Trp)	MIIP (R70W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3126480	NM_021933.4(MIIP):c.89G>A (p.Arg30Gln)	MIIP (R30Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126479	NM_021933.4(MIIP):c.898C>G (p.Arg300Gly)	MIIP (R300G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126478	NM_021933.4(MIIP):c.878C>T (p.Pro293Leu)	MIIP (P293L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126477	NM_021933.4(MIIP):c.808C>A (p.Gln270Lys)	MIIP (Q270K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126475	NM_021933.4(MIIP):c.782G>A (p.Arg261His)	MIIP (R261H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126474	NM_021933.4(MIIP):c.781C>T (p.Arg261Cys)	MIIP (R261C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126473	NM_021933.4(MIIP):c.41A>G (p.Asn14Ser)	MIIP (N14S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126472	NM_021933.4(MIIP):c.347C>T (p.Ser116Leu)	MIIP (S116L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3126470	NM_021933.4(MIIP):c.309G>T (p.Gln103His)	MIIP (Q103H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126469	NM_021933.4(MIIP):c.268T>G (p.Ser90Ala)	MIIP (S90A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126468	NM_021933.4(MIIP):c.1145A>G (p.His382Arg)	MIIP (H382R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3126467	NM_021933.4(MIIP):c.1030G>T (p.Ala344Ser)	MIIP (A344S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3063399	GRCh37/hg19 1p36.31-36.21(chr1:6330828-12910774)x1	AADACL3, AADACL4 +80 more	Copy number loss	not specified	GPathogenic
Select item 2685333	GRCh37/hg19 1p36.22(chr1:12055883-12441427)x1	MFN2, MIIP +3 more	Copy number loss	not provided	GUncertain significance
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2621372	NM_021933.4(MIIP):c.283C>T (p.Leu95Phe)	MIIP (L95F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589400	NM_021933.4(MIIP):c.752C>T (p.Pro251Leu)	MIIP (P251L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2485254	NM_021933.4(MIIP):c.206G>A (p.Gly69Asp)	MIIP (G69D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473559	NM_021933.4(MIIP):c.170C>T (p.Thr57Met)	MIIP (T57M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472777	NM_021933.4(MIIP):c.326C>T (p.Pro109Leu)	MIIP (P109L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2464946	NM_021933.4(MIIP):c.884G>A (p.Arg295Gln)	MIIP (R295Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2462716	NM_021933.4(MIIP):c.791G>A (p.Arg264Lys)	MIIP (R264K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2426061	NC_000001.10:g.(?_9304994)_(12569078_?)dup	AGTRAP, ANGPTL7 +44 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2409636	NM_021933.4(MIIP):c.1102C>T (p.Pro368Ser)	MIIP (P368S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394288	NM_021933.4(MIIP):c.229C>T (p.Pro77Ser)	MIIP (P77S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387637	NM_021933.4(MIIP):c.1005C>A (p.Asn335Lys)	MIIP (N335K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360314	NM_021933.4(MIIP):c.209G>A (p.Arg70Gln)	MIIP (R70Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353004	NM_021933.4(MIIP):c.730C>T (p.Arg244Cys)	MIIP (R244C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345360	NM_021933.4(MIIP):c.1078C>G (p.Pro360Ala)	MIIP (P360A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334060	NM_021933.4(MIIP):c.1145A>C (p.His382Pro)	MIIP (H382P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327186	NM_021933.4(MIIP):c.985A>C (p.Lys329Gln)	MIIP (K329Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315963	NM_021933.4(MIIP):c.883C>G (p.Arg295Gly)	MIIP (R295G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287497	NM_021933.4(MIIP):c.491C>T (p.Ala164Val)	MIIP (A164V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265207	NM_021933.4(MIIP):c.512G>A (p.Arg171His)	MIIP (R171H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251886	NM_021933.4(MIIP):c.26A>G (p.Gln9Arg)	MIIP (Q9R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224878	NM_021933.4(MIIP):c.235G>T (p.Ala79Ser)	MIIP (A79S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221900	NM_021933.4(MIIP):c.1138C>T (p.Arg380Trp)	MIIP (R380W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217590	NM_021933.4(MIIP):c.1112C>T (p.Pro371Leu)	MIIP (P371L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215571	NM_021933.4(MIIP):c.398A>G (p.Asp133Gly)	MIIP (D133G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808934	GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1	AADACL3, AADACL4 +143 more	Copy number loss	not provided	GPathogenic
Select item 1808634	GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1	ACAP3, ACOT7 +159 more	Copy number loss	not provided	GPathogenic
Select item 1707471	NC_000001.11:g.10115497_16283149dup	LOC110120623, LOC110120648 +361 more	Duplication	not specified	GLikely pathogenic
Select item 1373861	NC_000001.10:g.(?_11850737)_(12569078_?)dup	CLCN6, KIAA2013 +9 more	Duplication	not provided	GUncertain significance
Select item 1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	AJAP1, KAZN +228 more	Copy number loss	not provided	GPathogenic
Select item 775129	NM_021933.4(MIIP):c.1141C>T (p.Pro381Ser)	MIIP (P381S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 731578	NM_021933.4(MIIP):c.1153C>T (p.Arg385Trp)	MIIP (R385W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 730386	NM_021933.4(MIIP):c.1147G>A (p.Val383Ile)	MIIP (V383I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 717889	NM_021933.4(MIIP):c.915C>T (p.Asp305=)	MIIP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 717888	NM_021933.4(MIIP):c.840C>G (p.His280Gln)	MIIP (H280Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 717887	NM_021933.4(MIIP):c.745C>T (p.Leu249=)	MIIP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 717886	NM_021933.4(MIIP):c.739C>T (p.Arg247Trp)	MIIP (R247W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 717885	NM_021933.4(MIIP):c.621A>G (p.Glu207=)	MIIP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 717873	NM_021933.4(MIIP):c.600C>G (p.Ser200=)	MIIP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 713174	NM_021933.4(MIIP):c.112G>A (p.Glu38Lys)	MIIP (E38K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 685664	GRCh37/hg19 1p36.22-36.21(chr1:10246640-12841900)x1	AADACL3, AADACL4 +38 more	Copy number loss	not provided	GUncertain significance
Select item 638125	GRCh37/hg19 1p36.22-36.21(chr1:11794553-12786444)x3	AADACL3, AADACL4 +14 more	Copy number gain	See cases	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 625539	GRCh37/hg19 1p36.22-36.21(chr1:11690766-12835739)	AADACL3, AADACL4 +21 more	Copy number loss	not provided	GPathogenic
Select item 599310	Single allele	AADACL3, AADACL4 +11 more	Deletion	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GUncertain significance
Select item 443150	GRCh37/hg19 1p36.22-36.21(chr1:10722725-14267773)x1	AADACL3, AADACL4 +53 more	Copy number loss	See cases	GLikely pathogenic
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 442266	GRCh37/hg19 1p36.22-36.21(chr1:11143298-13709344)x3	AADACL3, AADACL4 +43 more	Copy number gain	See cases	GUncertain significance
Select item 441991	GRCh37/hg19 1p36.22-36.21(chr1:10722955-12910774)x1	AADACL3, AADACL4 +34 more	Copy number loss	See cases	GLikely pathogenic
Select item 441913	GRCh37/hg19 1p36.23-36.13(chr1:8850514-16272383)x1	AADACL3, AADACL4 +97 more	Copy number loss	See cases	GLikely pathogenic
Select item 395144	GRCh37/hg19 1p36.32-36.21(chr1:4558588-13187457)x1	AADACL3, AADACL4 +96 more	Copy number loss	See cases	GPathogenic
Select item 253459	GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	CCNL2, CDK11A +188 more	Copy number loss	See cases	GPathogenic
Select item 253358	GRCh37/hg19 1p36.23-36.21(chr1:8255222-12785220)x3	AGTRAP, DISP3 +56 more	Copy number gain	See cases	GLikely pathogenic
Select item 252976	GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1	ACAP3, ACOT7 +162 more	Copy number loss	See cases	GPathogenic
Select item 221357	chr1:909238-16736132 complex variant	RER1, RERE +212 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 153434	GRCh38/hg38 1p36.22-36.21(chr1:11021751-15236671)x3	AADACL3, AADACL4 +209 more	Copy number gain	See cases	GLikely pathogenic
Select item 152937	GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1	AADACL3, AADACL4 +304 more	Copy number loss	See cases	GPathogenic
Select item 152293	GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1	AADACL3, AADACL4 +370 more	Copy number loss	See cases	GPathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
Select item 148387	GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	AADACL3, AADACL4 +500 more	Copy number loss	See cases	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 146535	GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1	AGTRAP, ANGPTL7 +309 more	Copy number loss	See cases	GPathogenic
Select item 144297	GRCh38/hg38 1p36.23-36.21(chr1:9064492-12666744)x1	AADACL4, AGTRAP +280 more	Copy number loss	See cases	GPathogenic
Select item 59895	GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1	AADACL3, AADACL4 +288 more	Copy number loss	See cases	GPathogenic
Select item 59894	GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1	LOC112577504, LOC112577505 +316 more	Copy number loss	See cases	GPathogenic
Select item 59892	GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	AADACL3, AADACL4 +337 more	Copy number loss	See cases	GPathogenic
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 59884	GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1	AADACL3, AADACL4 +386 more	Copy number loss	See cases	GPathogenic
Select item 59856	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	LOC129929435, LOC129929436 +505 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 58051	GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3	AADACL3, AADACL4 +387 more	Copy number gain	See cases	GPathogenic
Select item 57722	GRCh38/hg38 1p36.22(chr1:11737130-12169786)x3	AGTRAP, C1orf167 +62 more	Copy number gain	See cases	GUncertain significance
Select item 57721	GRCh38/hg38 1p36.22-36.21(chr1:11654070-12768656)x3	C1orf167-AS1, AADACL3 +104 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Links from Gene

Items: 98