14037[HGNC] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic
Select item 2314386	NM_145729.3(MRPL24):c.623G>A (p.Arg208Gln)	MRPL24 (R208Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207236	NM_145729.3(MRPL24):c.506C>T (p.Thr169Met)	MRPL24 (T169M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295991	NM_145729.3(MRPL24):c.496G>A (p.Val166Ile)	MRPL24 (V166I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3355211	NM_145729.3(MRPL24):c.420A>T (p.Ala140=)	MRPL24	Single nucleotide variant (synonymous variant)	MRPL24-related condition	GLikely benign
Select item 2317589	NM_145729.3(MRPL24):c.313C>T (p.Arg105Trp)	MRPL24 (R105W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295992	NM_145729.3(MRPL24):c.287G>A (p.Arg96His)	MRPL24 (R96H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207227	NM_145729.3(MRPL24):c.242G>A (p.Arg81Gln)	MRPL24 (R81Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600204	NM_145729.3(MRPL24):c.241C>T (p.Arg81Trp)	MRPL24 (R81W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207224	NM_145729.3(MRPL24):c.238A>G (p.Ile80Val)	MRPL24 (I80V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207222	NM_145729.3(MRPL24):c.182C>G (p.Thr61Arg)	MRPL24 (T61R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3295993	NM_145729.3(MRPL24):c.162G>T (p.Trp54Cys)	MRPL24 (W54C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293798	NM_145729.3(MRPL24):c.157G>T (p.Asp53Tyr)	MRPL24 (D53Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268920	NM_145729.3(MRPL24):c.125G>A (p.Arg42His)	MRPL24 (R42H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210739	NM_145729.3(MRPL24):c.122G>A (p.Arg41Gln)	MRPL24 (R41Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207232	NM_145729.3(MRPL24):c.34A>G (p.Lys12Glu)	MRPL24 (K12E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242278	GRCh37/hg19 1q22-23.2(chr1:155709113-159191078)x3	ACKR1, AIM2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3063199	GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1	ADAM15, ADAR +85 more	Copy number loss	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1460461	NC_000001.10:g.(?_155581953)_(156851434_?)del	ARHGEF2, BCAN +45 more	Deletion	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 1450274	NC_000001.10:g.(?_154141761)_(156851434_?)dup	ADAM15, ADAR +90 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	YY1AP1, CRCT1 +228 more	Duplication	MHC class II deficiency +3 more	GUncertain significance
Select item 1341236	GRCh37/hg19 1q23.1(chr1:156665257-156902706)x1	CRABP2, HDGF +9 more	Copy number loss	not provided	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 617477	LMNA-NTRK1 fusion	NES, NTRK1 +31 more	Fusion	Congenital fibrosarcoma	GPathogenic
Select item 565184	GRCh37/hg19 1q22-23.1(chr1:155999570-156844432)x3	BCAN, BGLAP +35 more	Copy number gain	not provided	GUncertain significance
Select item 565183	GRCh37/hg19 1q22-23.1(chr1:155636337-158024499)x1	ARHGEF11, ARHGEF2 +57 more	Copy number loss	not provided	GPathogenic
Select item 495229	Single allele	BGLAP, C1orf43 +90 more	Inversion	Pediatric metastatic thyroid tumour	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

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Items: 33