ClinVar for Gene (Select 84072) - ClinVar

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Links from Gene

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3284616	NM_032132.5(HORMAD1):c.986T>A (p.Met329Lys)	HORMAD1 (M322K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284615	NM_032132.5(HORMAD1):c.556C>T (p.Pro186Ser)	HORMAD1 (P179S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106532	NM_032132.5(HORMAD1):c.817A>G (p.Ile273Val)	HORMAD1 (I273V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106531	NM_032132.5(HORMAD1):c.748T>C (p.Phe250Leu)	HORMAD1 (F243L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3106530	NM_032132.5(HORMAD1):c.1142T>G (p.Val381Gly)	HORMAD1 (V374G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106529	NM_032132.5(HORMAD1):c.1091A>G (p.Glu364Gly)	HORMAD1 (E357G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106528	NM_032132.5(HORMAD1):c.1073G>A (p.Arg358Gln)	HORMAD1 (R358Q +1 more)	Single nucleotide variant (missense variant)	not specified	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 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 2511569	NM_032132.5(HORMAD1):c.278A>G (p.Tyr93Cys)	HORMAD1 (Y93C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463902	NM_032132.5(HORMAD1):c.689G>A (p.Arg230Lys)	HORMAD1 (R223K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2372642	NM_032132.5(HORMAD1):c.1168C>A (p.Pro390Thr)	HORMAD1 (P390T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304961	NM_032132.5(HORMAD1):c.1131T>G (p.Ser377Arg)	HORMAD1 (S370R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304113	NM_032132.5(HORMAD1):c.920G>T (p.Ser307Ile)	HORMAD1 (S300I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284933	NM_032132.5(HORMAD1):c.308C>T (p.Thr103Ile)	HORMAD1 (T103I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281609	NM_032132.5(HORMAD1):c.896A>G (p.Asp299Gly)	HORMAD1 (D299G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267571	NM_032132.5(HORMAD1):c.718A>G (p.Ile240Val)	HORMAD1 (I240V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711131	NM_032132.5(HORMAD1):c.1021C>T (p.Gln341Ter)	HORMAD1 (Q334* +1 more)	Single nucleotide variant (nonsense)	Male infertility	GPathogenic
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 979298	GRCh37/hg19 1q21.3(chr1:150687807-150775422)x1	CTSK, HORMAD1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 979297	GRCh37/hg19 1q21.3(chr1:150611086-150941270)x1	CTSK, SETDB1 +5 more	Copy number loss	not provided	GUncertain significance
Select item 711737	NM_032132.5(HORMAD1):c.430A>G (p.Thr144Ala)	HORMAD1 (T137A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 393719	GRCh37/hg19 1q21.1-21.3(chr1:143753740-151399970)x3	ACP6, ADAMTSL4 +103 more	Copy number gain	See cases	GPathogenic
Select item 225520	GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3	CIART, LCE2A +154 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 221418	GRCh37/hg19 1q21.3(chr1:150531540-150679158)x3	HORMAD1, MCL1 +3 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 30