LYSMD1[gene] - ClinVar

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Items: 36

	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 150034	GRCh38/hg38 1q21.3(chr1:150989333-151584777)x1	ANXA9, BNIPL +59 more	Copy number loss	See cases	GLikely pathogenic
Select item 2243527	NM_024575.5(TNFAIP8L2):c.42G>C (p.Glu14Asp)	LYSMD1, TNFAIP8L2 +1 more (E14D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180193	NM_024575.5(TNFAIP8L2):c.65C>T (p.Ala22Val)	TNFAIP8L2, TNFAIP8L2-SCNM1 +1 more (A22V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 723112	NM_024575.5(TNFAIP8L2):c.71G>A (p.Arg24His)	LYSMD1, TNFAIP8L2 +1 more (R24H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2367998	NM_024575.5(TNFAIP8L2):c.153C>A (p.His51Gln)	LYSMD1, TNFAIP8L2 +1 more (H51Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350323	NM_024575.5(TNFAIP8L2):c.165G>C (p.Gln55His)	LYSMD1, TNFAIP8L2 +1 more (Q55H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293893	NM_024575.5(TNFAIP8L2):c.172C>T (p.Arg58Cys)	LYSMD1, TNFAIP8L2 +1 more (R58C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216582	NM_024575.5(TNFAIP8L2):c.173G>A (p.Arg58His)	LYSMD1, TNFAIP8L2 +1 more (R58H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343476	NM_024575.5(TNFAIP8L2):c.334G>A (p.Glu112Lys)	LYSMD1, TNFAIP8L2 +1 more (E112K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 775139	NM_024575.5(TNFAIP8L2):c.363C>G (p.Thr121=)	LYSMD1, TNFAIP8L2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 708675	NM_024575.5(TNFAIP8L2):c.408G>A (p.Thr136=)	LYSMD1, TNFAIP8L2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2548340	NM_024575.5(TNFAIP8L2):c.431G>T (p.Arg144Leu)	LYSMD1, TNFAIP8L2 +1 more (R144L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466213	NM_024575.5(TNFAIP8L2):c.436G>A (p.Val146Met)	LYSMD1, TNFAIP8L2 +1 more (V146M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2691603	NM_024575.5(TNFAIP8L2):c.480T>A (p.Tyr160Ter)	LYSMD1, TNFAIP8L2 +1 more (Y160*)	Single nucleotide variant (nonsense +1 more)	not specified	GUncertain significance
Select item 2523637	NM_212551.5(LYSMD1):c.638G>A (p.Arg213Gln)	LYSMD1, TNFAIP8L2-SCNM1 (R213Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273240	NM_212551.5(LYSMD1):c.409G>C (p.Val137Leu)	LYSMD1, TNFAIP8L2-SCNM1 (V89L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604389	NM_212551.5(LYSMD1):c.337A>T (p.Asn113Tyr)	LYSMD1, TNFAIP8L2-SCNM1 (N113Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336179	NM_212551.5(LYSMD1):c.298G>A (p.Glu100Lys)	LYSMD1, TNFAIP8L2-SCNM1 (E100K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549943	NM_212551.5(LYSMD1):c.244C>G (p.Leu82Val)	LYSMD1, TNFAIP8L2-SCNM1 (L82V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541792	NM_212551.5(LYSMD1):c.167A>G (p.Lys56Arg)	LYSMD1, TNFAIP8L2-SCNM1 (K56R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472126	NM_212551.5(LYSMD1):c.82G>A (p.Val28Met)	LYSMD1, TNFAIP8L2-SCNM1 (V28M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475405	NM_212551.5(LYSMD1):c.74G>A (p.Gly25Glu)	LYSMD1, TNFAIP8L2-SCNM1 (G25E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539906	NM_212551.5(LYSMD1):c.14C>T (p.Ser5Phe)	LYSMD1, TNFAIP8L2-SCNM1 (S5F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377518	NM_212551.5(LYSMD1):c.11C>T (p.Pro4Leu)	LYSMD1, TNFAIP8L2-SCNM1 (P4L)	Single nucleotide variant (missense variant +1 more)	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 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	EFNA3, EFNA4 +228 more	Duplication	Kostmann syndrome +3 more	GUncertain significance
Select item 1023952	NC_000001.10:g.(?_151122490)_(151585008_?)dup	SNX27, TMOD4 +14 more	Duplication	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	CA14, CACNA1E +956 more	Duplication	Gastrointestinal stromal tumor +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 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +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

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Items: 36