ClinVar for Gene (Select 79005) - ClinVar

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Links from Gene

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3158586	NM_024041.4(SCNM1):c.74T>A (p.Leu25Gln)	SCNM1, TNFAIP8L2-SCNM1 (L25Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3158585	NM_024041.4(SCNM1):c.583A>G (p.Thr195Ala)	SCNM1, TNFAIP8L2-SCNM1 (T160A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158584	NM_024041.4(SCNM1):c.484C>A (p.Pro162Thr)	SCNM1, TNFAIP8L2-SCNM1 (P127T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158583	NM_024041.4(SCNM1):c.367C>A (p.His123Asn)	SCNM1, TNFAIP8L2-SCNM1 (H88N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158582	NM_024041.4(SCNM1):c.364C>G (p.Pro122Ala)	SCNM1, TNFAIP8L2-SCNM1 (P122A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158581	NM_024041.4(SCNM1):c.14G>A (p.Arg5Lys)	SCNM1, TNFAIP8L2-SCNM1 (R5K)	Single nucleotide variant (5 prime UTR variant +3 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 2639169	NM_024041.4(SCNM1):c.521C>T (p.Ala174Val)	SCNM1, TNFAIP8L2-SCNM1 (A139V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2596389	NM_024041.4(SCNM1):c.421G>A (p.Val141Ile)	SCNM1, TNFAIP8L2-SCNM1 (V141I +1 more)	Single nucleotide variant (missense variant +1 more)	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 2550513	NM_024041.4(SCNM1):c.590G>A (p.Arg197Gln)	SCNM1, TNFAIP8L2-SCNM1 (R162Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541849	NM_024041.4(SCNM1):c.59G>A (p.Arg20Lys)	SCNM1, TNFAIP8L2-SCNM1 (R20K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2324612	NM_024041.4(SCNM1):c.365C>G (p.Pro122Arg)	SCNM1, TNFAIP8L2-SCNM1 (P87R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306629	NM_024041.4(SCNM1):c.140G>T (p.Cys47Phe)	SCNM1, TNFAIP8L2-SCNM1 (C47F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261197	NM_024041.4(SCNM1):c.5C>G (p.Ser2Cys)	SCNM1, TNFAIP8L2-SCNM1 (S2C)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2260597	NM_024041.4(SCNM1):c.627G>C (p.Trp209Cys)	SCNM1, TNFAIP8L2-SCNM1 (W209C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222757	NM_024041.4(SCNM1):c.9C>G (p.Phe3Leu)	SCNM1, TNFAIP8L2-SCNM1 (F3L)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 1712500	NM_024041.4(SCNM1):c.187del (p.Arg63fs)	SCNM1, TNFAIP8L2-SCNM1 (R28fs +1 more)	Deletion (frameshift variant +1 more)	Orofaciodigital syndrome 19	GPathogenic
Select item 1712499	NM_024041.4:c.301_302ins[N[324];285_301]	SCNM1	Insertion	Orofaciodigital syndrome 19	GPathogenic
Select item 1712498	NM_024041.4(SCNM1):c.152C>A (p.Pro51Gln)	SCNM1, TNFAIP8L2-SCNM1 (P51Q +1 more)	Single nucleotide variant (missense variant +1 more)	Orofaciodigital syndrome 19	GPathogenic
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	APH1A, AQP10 +228 more	Duplication	MHC class II deficiency +3 more	GUncertain significance
Select item 1023952	NC_000001.10:g.(?_151122490)_(151585008_?)dup	PI4KB, CGN +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
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

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Links from Gene

Items: 31