25316[HGNC] - ClinVar

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Items: 35

	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 2524497	NM_182499.4(TDRD10):c.22C>T (p.Pro8Ser)	TDRD10 (P8S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333859	NM_182499.4(TDRD10):c.233G>C (p.Gly78Ala)	TDRD10 (G78A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343677	NM_182499.4(TDRD10):c.456G>C (p.Glu152Asp)	TDRD10 (E152D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175437	NM_182499.4(TDRD10):c.479T>C (p.Phe160Ser)	TDRD10 (F160S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602744	NM_182499.4(TDRD10):c.577C>T (p.Arg193Cys)	TDRD10 (R193C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175438	NM_182499.4(TDRD10):c.622C>T (p.Pro208Ser)	TDRD10 (P208S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378765	NM_182499.4(TDRD10):c.667A>G (p.Met223Val)	TDRD10 (M223V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325099	NM_182499.4(TDRD10):c.674C>T (p.Ala225Val)	TDRD10 (A225V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380654	NM_182499.4(TDRD10):c.709C>G (p.Gln237Glu)	TDRD10 (Q237E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325098	NM_182499.4(TDRD10):c.712C>G (p.Pro238Ala)	TDRD10 (P238A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487183	NM_182499.4(TDRD10):c.736A>T (p.Met246Leu)	TDRD10 (M246L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462040	NM_182499.4(TDRD10):c.740G>A (p.Arg247His)	TDRD10 (R247H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175439	NM_182499.4(TDRD10):c.742G>A (p.Gly248Arg)	TDRD10 (G248R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230906	NM_182499.4(TDRD10):c.898A>G (p.Ser300Gly)	TDRD10 (S300G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325096	NM_182499.4(TDRD10):c.965C>T (p.Ser322Leu)	TDRD10 (S322L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481241	NM_182499.4(TDRD10):c.970G>A (p.Glu324Lys)	TDRD10 (E324K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216813	NM_182499.4(TDRD10):c.977T>C (p.Val326Ala)	TDRD10 (V326A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496055	NM_182499.4(TDRD10):c.983G>A (p.Arg328Gln)	TDRD10 (R328Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247808	NC_000001.10:g.(?_153782653)_(154580482_?)dup	ADAR, AQP10 +20 more	Duplication	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
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 3062900	GRCh37/hg19 1q21.3(chr1:154089394-154912611)x3	ADAR, AQP10 +14 more	Copy number gain	not specified	GUncertain significance
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 2425513	NC_000001.10:g.(?_153963273)_(154580482_?)del	ADAR, AQP10 +13 more	Deletion	Kostmann syndrome	GPathogenic
Select item 1459168	NC_000001.10:g.(?_154422067)_(154580482_?)del	ADAR, CHRNB2 +4 more	Deletion	Symmetrical dyschromatosis of extremities +1 more	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 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 565180	GRCh37/hg19 1q21.3(chr1:150853044-154647786)x3	LCE2A, S100A2 +125 more	Copy number gain	not provided	GPathogenic
Select item 495229	Single allele	BGLAP, C1orf43 +90 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 493594	GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3	ADAR, PYGO2 +91 more	Copy number gain	not provided	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: 35