ClinVar for Gene (Select 219681) - ClinVar

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Links from Gene

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3129648	NM_173081.5(ARMC3):c.964G>T (p.Val322Leu)	ARMC3 (V322L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129647	NM_173081.5(ARMC3):c.875A>G (p.Gln292Arg)	ARMC3 (Q292R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129646	NM_173081.5(ARMC3):c.778T>A (p.Cys260Ser)	ARMC3 (C260S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129644	NM_173081.5(ARMC3):c.574G>T (p.Ala192Ser)	ARMC3 (A192S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129643	NM_173081.5(ARMC3):c.370G>C (p.Val124Leu)	ARMC3 (V124L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129642	NM_173081.5(ARMC3):c.2500C>T (p.Arg834Trp)	ARMC3 (R834W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129640	NM_173081.5(ARMC3):c.2308G>C (p.Glu770Gln)	ARMC3 (E507Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129638	NM_173081.5(ARMC3):c.2042G>T (p.Trp681Leu)	ARMC3 (W418L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129637	NM_173081.5(ARMC3):c.1741G>A (p.Gly581Ser)	ARMC3 (G581S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129636	NM_173081.5(ARMC3):c.1733T>C (p.Ile578Thr)	ARMC3 (I578T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129635	NM_173081.5(ARMC3):c.1700T>C (p.Ile567Thr)	ARMC3 (I304T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129634	NM_173081.5(ARMC3):c.1682A>G (p.Tyr561Cys)	ARMC3 (Y561C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129632	NM_173081.5(ARMC3):c.1342C>A (p.Leu448Met)	ARMC3 (L185M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129631	NM_173081.5(ARMC3):c.1318A>C (p.Ile440Leu)	ARMC3 (I440L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129630	NM_173081.5(ARMC3):c.1232G>A (p.Arg411Gln)	ARMC3 (R148Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129629	NM_173081.5(ARMC3):c.1067A>T (p.Gln356Leu)	ARMC3 (Q356L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129628	NM_173081.5(ARMC3):c.1052A>T (p.Asp351Val)	ARMC3 (D88V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619518	NM_173081.5(ARMC3):c.1717T>C (p.Tyr573His)	ARMC3 (Y573H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613032	NM_173081.5(ARMC3):c.1531G>A (p.Glu511Lys)	ARMC3 (E511K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611304	NM_173081.5(ARMC3):c.1421C>A (p.Thr474Asn)	ARMC3 (T211N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605516	NM_173081.5(ARMC3):c.20A>C (p.Lys7Thr)	ARMC3 (K7T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603069	NM_173081.5(ARMC3):c.902A>G (p.Lys301Arg)	ARMC3 (K38R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601633	NM_173081.5(ARMC3):c.2432T>C (p.Ile811Thr)	ARMC3 (I548T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600212	NM_173081.5(ARMC3):c.1176C>T (p.Asn392=)	ARMC3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2590343	NM_173081.5(ARMC3):c.491C>T (p.Pro164Leu)	ARMC3 (P164L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589541	NM_173081.5(ARMC3):c.1117C>T (p.Arg373Trp)	ARMC3 (R110W +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2588745	NM_173081.5(ARMC3):c.2484G>A (p.Met828Ile)	ARMC3 (M828I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2553885	NM_173081.5(ARMC3):c.1712G>T (p.Gly571Val)	ARMC3 (G308V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518716	NM_173081.5(ARMC3):c.2434G>T (p.Gly812Cys)	ARMC3 (G549C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488013	NM_173081.5(ARMC3):c.86C>G (p.Thr29Ser)	ARMC3 (T29S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476868	NM_173081.5(ARMC3):c.2461G>A (p.Gly821Ser)	ARMC3 (G814S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476757	NM_173081.5(ARMC3):c.632C>T (p.Ala211Val)	ARMC3 (A211V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471460	NM_173081.5(ARMC3):c.99G>A (p.Met33Ile)	ARMC3 (M33I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469634	NM_173081.5(ARMC3):c.2153C>T (p.Pro718Leu)	ARMC3 (P455L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468595	NM_173081.5(ARMC3):c.980C>T (p.Ser327Phe)	ARMC3 (S327F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403909	NM_173081.5(ARMC3):c.1409T>C (p.Val470Ala)	ARMC3 (V207A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399391	NM_173081.5(ARMC3):c.509C>T (p.Ser170Phe)	ARMC3 (S170F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391438	NM_173081.5(ARMC3):c.1277C>T (p.Ala426Val)	ARMC3 (A163V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383898	NM_173081.5(ARMC3):c.209A>G (p.Glu70Gly)	ARMC3 (E70G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363359	NM_173081.5(ARMC3):c.1333A>G (p.Ile445Val)	ARMC3 (I182V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356552	NM_173081.5(ARMC3):c.1003G>A (p.Ala335Thr)	ARMC3 (A335T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356495	NM_173081.5(ARMC3):c.712A>G (p.Ile238Val)	ARMC3 (I238V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355566	NM_173081.5(ARMC3):c.2333T>C (p.Phe778Ser)	ARMC3 (F778S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342608	NM_173081.5(ARMC3):c.2174T>C (p.Met725Thr)	ARMC3 (M725T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330413	NM_173081.5(ARMC3):c.1634A>C (p.Asn545Thr)	ARMC3 (N545T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325825	NM_173081.5(ARMC3):c.454T>A (p.Leu152Ile)	ARMC3 (L152I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323237	NM_173081.5(ARMC3):c.1765G>A (p.Glu589Lys)	ARMC3 (E326K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308681	NM_173081.5(ARMC3):c.1676C>G (p.Thr559Ser)	ARMC3 (T296S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296242	NM_173081.5(ARMC3):c.1796G>A (p.Arg599Gln)	ARMC3 (R599Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294336	NM_173081.5(ARMC3):c.263C>T (p.Thr88Ile)	ARMC3 (T88I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279967	NM_173081.5(ARMC3):c.1204C>A (p.Pro402Thr)	ARMC3 (P139T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269390	NM_173081.5(ARMC3):c.1323G>A (p.Met441Ile)	ARMC3 (M441I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262494	NM_173081.5(ARMC3):c.2494G>C (p.Asp832His)	ARMC3 (D569H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229506	NM_173081.5(ARMC3):c.2027C>T (p.Thr676Ile)	ARMC3 (T676I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220440	NM_173081.5(ARMC3):c.1078C>G (p.Gln360Glu)	ARMC3 (Q97E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216929	NM_173081.5(ARMC3):c.1180G>T (p.Ala394Ser)	ARMC3 (A131S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215554	NM_173081.5(ARMC3):c.1591G>A (p.Val531Ile)	ARMC3 (V268I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808767	GRCh37/hg19 10p12.31-12.2(chr10:22208767-23220277)x3	ARMC3, BMI1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1712309	NM_173081.5(ARMC3):c.916+1G>A	ARMC3	Single nucleotide variant (splice donor variant)	Stuttering, familial persistent, 4	GUncertain significance
Select item 1527577	GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521)	ABI1, ACBD5 +111 more	Copy number gain	not specified	GPathogenic
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ACBD7, ABI1 +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	NFKB2, NHLRC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ANXA8L1 +723 more	Copy number gain	See cases	GPathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	LOC130003254, LOC130003255 +1221 more	Copy number gain	See cases	GBenign
Select item 150600	GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3	ABI1, ACBD5 +376 more	Copy number gain	See cases	GLikely pathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	LINC00700, LINC00701 +837 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 70