SWAP70[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 155423	GRCh38/hg38 11p15.4(chr11:7995676-10437205)x3	ADM, ADM-DT +135 more	Copy number gain	See cases	GUncertain significance
Select item 2247244	NM_015055.4(SWAP70):c.11T>C (p.Leu4Ser)	LOC130005290, SWAP70 (L4S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342600	NM_015055.4(SWAP70):c.43G>A (p.Ala15Thr)	LOC130005290, SWAP70 (A15T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534844	NM_015055.4(SWAP70):c.142G>T (p.Asp48Tyr)	SWAP70 (D48Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172496	NM_015055.4(SWAP70):c.148G>A (p.Val50Ile)	SWAP70 (V50I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323780	NM_015055.4(SWAP70):c.361A>G (p.Ile121Val)	SWAP70 (I121V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172498	NM_015055.4(SWAP70):c.380A>T (p.Glu127Val)	SWAP70 (E127V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536992	NM_015055.4(SWAP70):c.524C>T (p.Ala175Val)	SWAP70 (A175V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2282142	NM_015055.4(SWAP70):c.569G>A (p.Gly190Asp)	SWAP70 (G190D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389645	NM_015055.4(SWAP70):c.577C>T (p.Arg193Trp)	SWAP70 (R135W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323779	NM_015055.4(SWAP70):c.623T>C (p.Ile208Thr)	SWAP70 (I150T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172500	NM_015055.4(SWAP70):c.670C>T (p.Arg224Trp)	SWAP70 (R166W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323778	NM_015055.4(SWAP70):c.711C>A (p.Asn237Lys)	SWAP70 (N179K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395596	NM_015055.4(SWAP70):c.712A>T (p.Ile238Leu)	SWAP70 (I180L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172501	NM_015055.4(SWAP70):c.782G>A (p.Cys261Tyr)	SWAP70 (C203Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172502	NM_015055.4(SWAP70):c.886G>C (p.Glu296Gln)	SWAP70 (E296Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604822	NM_015055.4(SWAP70):c.991C>G (p.Leu331Val)	SWAP70 (L273V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260046	NM_015055.4(SWAP70):c.1023G>C (p.Met341Ile)	SWAP70 (M283I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172493	NM_015055.4(SWAP70):c.1025A>C (p.Lys342Thr)	SWAP70 (K284T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172494	NM_015055.4(SWAP70):c.1072G>T (p.Val358Leu)	SWAP70 (V358L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283507	NM_015055.4(SWAP70):c.1122G>T (p.Lys374Asn)	SWAP70 (K316N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239135	NM_015055.4(SWAP70):c.1140A>C (p.Gln380His)	SWAP70 (Q380H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216503	NM_015055.4(SWAP70):c.1150C>G (p.Gln384Glu)	SWAP70 (Q326E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539915	NM_015055.4(SWAP70):c.1212G>C (p.Gln404His)	SWAP70 (Q346H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172495	NM_015055.4(SWAP70):c.1258C>T (p.Arg420Trp)	SWAP70 (R362W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495131	NM_015055.4(SWAP70):c.1286T>C (p.Leu429Pro)	SWAP70 (L371P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380809	NM_015055.4(SWAP70):c.1439C>T (p.Ala480Val)	SWAP70 (A422V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220102	NM_015055.4(SWAP70):c.1498A>G (p.Met500Val)	SWAP70 (M500V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681573	NM_015055.4(SWAP70):c.1507C>G (p.Leu503Val)	SWAP70 (L445V +1 more)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 3172497	NM_015055.4(SWAP70):c.1528C>G (p.Arg510Gly)	SWAP70 (R452G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269773	NM_015055.4(SWAP70):c.1562A>G (p.Lys521Arg)	SWAP70 (K463R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242315	GRCh37/hg19 11p15.4(chr11:8548056-10497905)x3	ADM, AKIP1 +18 more	Copy number gain	not provided	GUncertain significance
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	C11orf40, C11orf42 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	ADM, AKIP1 +258 more	Copy number gain	not provided	GPathogenic
Select item 563880	GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3	AKIP1, ANO9 +222 more	Copy number gain	not provided	GPathogenic
Select item 563849	GRCh37/hg19 11p15.4(chr11:9648325-10157844)x3	SBF2, SWAP70	Copy number gain	not provided	GUncertain significance
Select item 442538	GRCh37/hg19 11p15.4(chr11:9651444-10157844)x3	SBF2, SWAP70	Copy number gain	See cases	GUncertain significance
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic

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Items: 46