ICMT[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 58242	GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1	ATAD3C, AURKAIP1 +520 more	Copy number loss	See cases	GPathogenic
Select item 58244	GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	LOC129929144, LOC129929145 +458 more	Copy number loss	See cases	GPathogenic
Select item 149968	GRCh38/hg38 1p36.33-36.31(chr1:821713-7000838)x1	ACAP3, ACOT7 +449 more	Copy number loss	See cases	GPathogenic
Select item 154642	GRCh38/hg38 1p36.33-36.23(chr1:844347-7870545)x1	ACAP3, ACOT7 +470 more	Copy number loss	See cases	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	TMEM201, TMEM240 +806 more	Copy number loss	See cases	GPathogenic
Select item 147354	GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)x1	ACAP3, ACOT7 +490 more	Copy number loss	See cases	GPathogenic
Select item 144461	GRCh38/hg38 1p36.33-36.31(chr1:844347-6916587)x1	PLEKHN1, PRDM16 +441 more	Copy number loss	See cases	GPathogenic
Select item 57440	GRCh38/hg38 1p36.33-36.31(chr1:844347-6477436)x1	ACAP3, ACOT7 +401 more	Copy number loss	See cases	GPathogenic
Select item 150566	GRCh38/hg38 1p36.33-36.31(chr1:844353-6477474)x1	LOC129929181, LOC129929182 +401 more	Copy number loss	See cases	GPathogenic
Select item 58294	GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1	ACAP3, ACOT7 +519 more	Copy number loss	See cases	GPathogenic
Select item 154584	GRCh38/hg38 1p36.33-36.23(chr1:898721-7811306)x1	SDF4, SKI +464 more	Copy number loss	See cases	GPathogenic
Select item 153078	GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1	ACAP3, ACOT7 +578 more	Copy number loss	See cases	GPathogenic
Select item 154548	GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1	ACAP3, ACOT7 +564 more	Copy number loss	See cases	GPathogenic
Select item 153663	GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1	LOC129929186, LOC129929187 +577 more	Copy number loss	See cases	GPathogenic
Select item 57390	GRCh38/hg38 1p36.32-36.23(chr1:2844760-8007940)x1	ACOT7, ACTRT2 +226 more	Copy number loss	See cases	GPathogenic
Select item 152936	GRCh38/hg38 1p36.32-36.23(chr1:2868477-7332569)x1	LOC112577578, LOC112577579 +199 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	AADACL3, AADACL4 +804 more	Copy number loss	See cases	GPathogenic
Select item 59852	GRCh38/hg38 1p36.32-36.23(chr1:3472163-7842947)x1	ACOT7, AJAP1 +193 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 59856	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	AADACL3, AADACL4 +505 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	LOC129929300, LOC129929301 +730 more	Copy number loss	See cases	GPathogenic
Select item 2525355	NM_012405.4(ICMT):c.829A>G (p.Ile277Val)	ICMT (I277V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391550	NM_012405.4(ICMT):c.725G>A (p.Arg242Gln)	ICMT (R242Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 775494	NM_012405.4(ICMT):c.564G>A (p.Val188=)	ICMT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2545407	NM_012405.4(ICMT):c.527C>T (p.Ala176Val)	ICMT (A176V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314610	NM_012405.4(ICMT):c.443T>C (p.Ile148Thr)	ICMT (I148T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1184370	NC_000001.11:g.6234122_6508845dup	ACOT7, ESPN +35 more	Duplication	not provided	GUncertain significance
Select item 2614679	NM_012405.4(ICMT):c.55G>T (p.Ala19Ser)	ICMT (A19S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235868	NM_012405.4(ICMT):c.26C>T (p.Pro9Leu)	ICMT (P9L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302249	NM_012405.4(ICMT):c.4G>T (p.Ala2Ser)	ICMT, LOC129929225 (A2S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063343	GRCh37/hg19 1p36.32-36.23(chr1:4536962-7934520)x1	ACOT7, AJAP1 +23 more	Copy number loss	not specified	GPathogenic
Select item 3063233	GRCh37/hg19 1p36.33-36.23(chr1:849466-8966102)x1	RNF207, RNF223 +108 more	Copy number loss	not specified	GPathogenic
Select item 2685244	GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1	ACAP3, ACOT7 +116 more	Copy number loss	not provided	GPathogenic
Select item 2574677	GRCh37/hg19 1p36.33-36.31(chr1:1957148-6553454)	AJAP1, ACOT7 +40 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	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 1808536	GRCh37/hg19 1p36.31(chr1:5505039-7027995)x1	ACOT7, CAMTA1 +19 more	Copy number loss	not provided	GPathogenic
Select item 1703629	GRCh37/hg19 1p36.33-36.22(chr1:849466-10258804)	GPR157, H6PD +124 more	Copy number loss	Chromosome 1p36 deletion syndrome, proximal	GPathogenic
Select item 1703625	GRCh37/hg19 1p36.31-36.23(chr1:6250285-7943864)	ICMT, KLHL21 +19 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1341993	GRCh37/hg19 1p36.33-36.23(chr1:834101-7930605)x1	AURKAIP1, B3GALT6 +101 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
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 1177499	GRCh37/hg19 1p36.32-36.23(chr1:2420003-8155935)x1	SMIM1, ZBTB48 +47 more	Copy number loss	Chromosome 1p36 deletion syndrome	Gnot provided
Select item 976729	GRCh37/hg19 1p36.33-36.23(chr1:762080-7309686)	ISG15, SLC35E2A +98 more	Copy number loss	Harel-Yoon syndrome	GLikely pathogenic
Select item 814045	GRCh37/hg19 1p36.33-36.23(chr1:849466-7786545)x1	ACAP3, ACOT7 +98 more	Copy number loss	not provided	GPathogenic
Select item 638124	GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1	ACAP3, ACOT7 +148 more	Copy number loss	See cases	GPathogenic
Select item 638116	GRCh37/hg19 1p36.33-36.23(chr1:82154-7637060)x1	ACAP3, ACOT7 +100 more	Copy number loss	See cases	GPathogenic
Select item 635907	Single allele	ACAP3, ACOT7 +119 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 625766	GRCh37/hg19 1p36.33-36.31(chr1:823964-6828363)	ANKRD65, ARHGEF16 +97 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 565059	GRCh37/hg19 1p36.33-36.23(chr1:849466-7305595)x1	ACAP3, ACOT7 +98 more	Copy number loss	not provided	GPathogenic
Select item 443883	GRCh37/hg19 1p36.33-36.23(chr1:849466-8901938)x1	ACAP3, ACOT7 +106 more	Copy number loss	See cases	GPathogenic
Select item 443478	GRCh37/hg19 1p36.33-36.23(chr1:849466-7637060)x1	ACAP3, ACOT7 +98 more	Copy number loss	See cases	GPathogenic
Select item 442919	GRCh37/hg19 1p36.33-36.31(chr1:849466-6505278)x1	ACAP3, ACOT7 +88 more	Copy number loss	See cases	GPathogenic
Select item 442741	GRCh37/hg19 1p36.32-36.23(chr1:2793822-7510850)x1	ACOT7, ACTRT2 +34 more	Copy number loss	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441627	GRCh37/hg19 1p36.33-36.31(chr1:849466-6374209)x1	ACAP3, ACOT7 +86 more	Copy number loss	See cases	GPathogenic
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 393825	GRCh37/hg19 1p36.32-36.31(chr1:2609223-2631378)x3	ACOT7, ACTRT2 +35 more	Copy number gain	See cases	GBenign
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 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	AADACL3, AADACL4 +212 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	C1orf159, C1orf167 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 63