MICOS10-NBL1[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 57443	GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1	ACTL8, AGMAT +303 more	Copy number loss	See cases	GPathogenic
Select item 149010	GRCh38/hg38 1p36.21-36.13(chr1:15681812-19662339)x1	LOC126805640, LOC126805641 +206 more	Copy number loss	See cases	GPathogenic
Select item 59918	GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1	EMC1-AS1, FAM43B +221 more	Copy number loss	See cases	GPathogenic
Select item 59922	GRCh38/hg38 1p36.13(chr1:19093306-20063342)x1	AKR7A2, AKR7A3 +57 more	Copy number loss	See cases	GPathogenic
Select item 152815	GRCh38/hg38 1p36.13(chr1:19169253-19797307)x3	AKR7A2, AKR7A3 +39 more	Copy number gain	See cases	GLikely benign
Select item 149019	GRCh38/hg38 1p36.13-36.12(chr1:19548795-20935131)x1	CAMK2N1, CDA +81 more	Copy number loss	See cases	GUncertain significance
Select item 2603808	NM_001032363.4(MICOS10):c.7G>A (p.Glu3Lys)	LOC129929576, MICOS10 +1 more (E3K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3126294	NM_001032363.4(MICOS10):c.14A>C (p.Glu5Ala)	LOC129929576, MICOS10 +1 more (E5A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3126296	NM_001032363.4(MICOS10):c.44C>T (p.Ala15Val)	MICOS10, MICOS10-NBL1 (A15V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3126297	NM_001032363.4(MICOS10):c.47A>G (p.Asp16Gly)	MICOS10, MICOS10-NBL1 (D16G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3126298	NM_001032363.4(MICOS10):c.62T>C (p.Ile21Thr)	MICOS10, MICOS10-NBL1 (I21T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3294797	NM_001204088.2(MICOS10-NBL1):c.16C>A (p.Gln6Lys)	MICOS10, MICOS10-NBL1 (Q6K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3126299	NM_001032363.4(MICOS10):c.68C>G (p.Thr23Ser)	MICOS10, MICOS10-NBL1 (T23S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2611948	NM_001032363.4(MICOS10):c.220A>C (p.Lys74Gln)	MICOS10, MICOS10-NBL1 (K58Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3126295	NM_001032363.4(MICOS10):c.223-836C>A	MICOS10, MICOS10-NBL1 (P128T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359745	NM_182744.4(NBL1):c.55C>T (p.Pro19Ser)	MICOS10-NBL1, NBL1 (P19S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3126301	NM_001204088.2(MICOS10-NBL1):c.227A>G (p.Gln76Arg)	MICOS10-NBL1, NBL1 (Q62R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126302	NM_001204088.2(MICOS10-NBL1):c.341C>T (p.Pro114Leu)	MICOS10-NBL1, NBL1 (P100L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126303	NM_001204088.2(MICOS10-NBL1):c.359C>A (p.Pro120His)	MICOS10-NBL1, NBL1 (P106H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126304	NM_001204088.2(MICOS10-NBL1):c.406G>A (p.Ala136Thr)	MICOS10-NBL1, NBL1 (A122T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126305	NM_001204088.2(MICOS10-NBL1):c.407C>A (p.Ala136Asp)	MICOS10-NBL1, NBL1 (A136D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126306	NM_001204088.2(MICOS10-NBL1):c.432G>C (p.Glu144Asp)	MICOS10-NBL1, NBL1 (E164D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126307	NM_001204088.2(MICOS10-NBL1):c.442G>C (p.Val148Leu)	MICOS10-NBL1, NBL1 (V169L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126308	NM_001204088.2(MICOS10-NBL1):c.449T>C (p.Val150Ala)	MICOS10-NBL1, NBL1 (V150A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126309	NM_001204088.2(MICOS10-NBL1):c.481G>A (p.Gly161Ser)	MICOS10-NBL1, NBL1 (G147S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126310	NM_001204088.2(MICOS10-NBL1):c.520G>A (p.Gly174Arg)	MICOS10-NBL1, NBL1 (G174R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126311	NM_001204088.2(MICOS10-NBL1):c.529C>T (p.Pro177Ser)	MICOS10-NBL1, NBL1 (P177S +3 more)	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 3062822	GRCh37/hg19 1p36.21-36.12(chr1:16194137-20561434)x1	ACTL8, AKR7A2 +58 more	Copy number loss	not specified	GPathogenic
Select item 2685797	GRCh37/hg19 1p36.13(chr1:18127009-20315260)x3	ACTL8, AKR7A2 +22 more	Copy number gain	not provided	GUncertain significance
Select item 2685031	GRCh37/hg19 1p36.13-36.12(chr1:17291707-23016395)x4	ACTL8, AKR7A2 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2424757	NC_000001.10:g.(?_19199339)_(22987879_?)dup	AKR7A2, AKR7A3 +49 more	Duplication	Hyperprolinemia type 2 +2 more	GUncertain significance
Select item 2422561	NC_000001.10:g.(?_19199339)_(24690861_?)dup	AKR7A2, AKR7A3 +77 more	Duplication	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 1340990	GRCh37/hg19 1p36.13(chr1:16773001-20221073)x1	ACTL8, AKR7A2 +38 more	Copy number loss	not provided	GPathogenic
Select item 1228381	GRCh37/hg19 1p36.13-36.12(chr1:16785250-23491592)x1	FAM43B, HP1BP3 +77 more	Copy number loss	1p36.1 deletion syndrome	GPathogenic
Select item 980392	GRCh37/hg19 1p36.21-36.12(chr1:16041431-21295864)x1	EMC1, EPHA2 +73 more	Copy number loss	not provided	GPathogenic
Select item 980391	GRCh37/hg19 1p36.13-36.12(chr1:17284906-21778495)x1	AKR7A3, AKR7L +51 more	Copy number loss	not provided	GPathogenic
Select item 980390	GRCh37/hg19 1p36.13(chr1:19809464-20123500)x3	TMCO4, CAPZB +4 more	Copy number gain	not provided	GUncertain significance
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 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 253734	GRCh37/hg19 1p36.13-36.12(chr1:19809419-20418333)x3	TMCO4, HTR6 +9 more	Copy number gain	See cases	GUncertain significance
Select item 221359	chr1:17555508-24706269 complex variant	ACTL8, AKR7A2 +88 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 46