SFSWAP[gene] - ClinVar

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Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +786 more	Copy number gain	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 57448	GRCh38/hg38 12q24.31-24.33(chr12:123444758-133191400)x3	AACS, ADGRD1 +412 more	Copy number gain	See cases	GPathogenic
Select item 146222	GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3	AACS, ADGRD1 +408 more	Copy number gain	See cases	GPathogenic
Select item 59847	GRCh38/hg38 12q24.32-24.33(chr12:126403612-133166920)x3	ADGRD1, ADGRD1-AS1 +266 more	Copy number gain	See cases	GPathogenic
Select item 144761	GRCh38/hg38 12q24.33(chr12:131650542-133191400)x1	ANKLE2, CHFR +122 more	Copy number loss	See cases	GPathogenic
Select item 3317874	NM_004592.4(SFSWAP):c.25G>C (p.Ala9Pro)	SFSWAP (A9P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292973	NM_004592.4(SFSWAP):c.34G>A (p.Glu12Lys)	LOC130009231, SFSWAP (E12K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340042	NM_004592.4(SFSWAP):c.59A>C (p.Glu20Ala)	LOC130009231, SFSWAP (E20A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620099	NM_004592.4(SFSWAP):c.82G>T (p.Gly28Cys)	LOC130009231, SFSWAP (G28C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317871	NM_004592.4(SFSWAP):c.83G>A (p.Gly28Asp)	LOC130009231, SFSWAP (G28D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312779	NM_004592.4(SFSWAP):c.199C>T (p.His67Tyr)	SFSWAP (H67Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317869	NM_004592.4(SFSWAP):c.284G>A (p.Arg95Lys)	SFSWAP (R95K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160936	NM_004592.4(SFSWAP):c.289T>C (p.Tyr97His)	SFSWAP (Y97H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257919	NM_004592.4(SFSWAP):c.311C>T (p.Ala104Val)	SFSWAP (A104V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543941	NM_004592.4(SFSWAP):c.363C>G (p.Asp121Glu)	SFSWAP (D121E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544014	NM_004592.4(SFSWAP):c.463A>C (p.Ser155Arg)	SFSWAP (S155R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643601	NM_004592.4(SFSWAP):c.565G>A (p.Val189Ile)	SFSWAP (V189I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3160937	NM_004592.4(SFSWAP):c.586G>A (p.Val196Ile)	SFSWAP (V196I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384476	NM_004592.4(SFSWAP):c.730C>T (p.Arg244Cys)	SFSWAP (R244C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488602	NM_004592.4(SFSWAP):c.761A>G (p.Lys254Arg)	SFSWAP (K254R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317873	NM_004592.4(SFSWAP):c.854A>G (p.Asn285Ser)	SFSWAP (N285S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160920	NM_004592.4(SFSWAP):c.1033G>A (p.Ala345Thr)	SFSWAP (A345T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295371	NM_004592.4(SFSWAP):c.1073C>T (p.Thr358Met)	SFSWAP (T358M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160921	NM_004592.4(SFSWAP):c.1079A>G (p.Asp360Gly)	SFSWAP (D360G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317872	NM_004592.4(SFSWAP):c.1186C>T (p.Leu396Phe)	SFSWAP (L396F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317867	NM_004592.4(SFSWAP):c.1205T>A (p.Val402Glu)	SFSWAP (V402E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363200	NM_004592.4(SFSWAP):c.1232C>T (p.Thr411Ile)	SFSWAP (T411I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643602	NM_004592.4(SFSWAP):c.1233C>T (p.Thr411=)	SFSWAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3160922	NM_004592.4(SFSWAP):c.1265C>T (p.Pro422Leu)	SFSWAP (P422L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160923	NM_004592.4(SFSWAP):c.1301C>T (p.Thr434Ile)	SFSWAP (T434I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160924	NM_004592.4(SFSWAP):c.1366G>A (p.Val456Ile)	SFSWAP (V456I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2643603	NM_004592.4(SFSWAP):c.1401C>T (p.Val467=)	SFSWAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2542630	NM_004592.4(SFSWAP):c.1482G>C (p.Gln494His)	SFSWAP (Q494H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643604	NM_004592.4(SFSWAP):c.1512G>A (p.Gln504=)	SFSWAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3160925	NM_004592.4(SFSWAP):c.1537G>A (p.Asp513Asn)	SFSWAP (D513N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509735	NM_004592.4(SFSWAP):c.1577C>A (p.Thr526Lys)	SFSWAP (T526K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160926	NM_004592.4(SFSWAP):c.1639G>A (p.Glu547Lys)	SFSWAP (E547K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160927	NM_004592.4(SFSWAP):c.1651C>T (p.Arg551Trp)	SFSWAP (R551W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160928	NM_004592.4(SFSWAP):c.1667G>A (p.Gly556Glu)	SFSWAP (G556E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550845	NM_004592.4(SFSWAP):c.1678G>C (p.Ala560Pro)	SFSWAP (A560P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253579	NM_004592.4(SFSWAP):c.1685C>T (p.Ser562Phe)	SFSWAP (S562F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394064	NM_004592.4(SFSWAP):c.1696G>A (p.Val566Ile)	SFSWAP (V566I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269274	NM_004592.4(SFSWAP):c.1719A>T (p.Lys573Asn)	SFSWAP (K573N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242388	NM_004592.4(SFSWAP):c.1762A>G (p.Asn588Asp)	SFSWAP (N588D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257285	NM_004592.4(SFSWAP):c.1885C>T (p.Pro629Ser)	SFSWAP (P629S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403724	NM_004592.4(SFSWAP):c.2060C>T (p.Ala687Val)	SFSWAP (A687V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160929	NM_004592.4(SFSWAP):c.2126G>A (p.Ser709Asn)	SFSWAP (S709N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643605	NM_004592.4(SFSWAP):c.2151C>T (p.Ser717=)	SFSWAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3160930	NM_004592.4(SFSWAP):c.2326T>C (p.Ser776Pro)	SFSWAP (S776P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539940	NM_004592.4(SFSWAP):c.2362G>A (p.Ala788Thr)	SFSWAP (A788T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160931	NM_004592.4(SFSWAP):c.2422T>C (p.Ser808Pro)	SFSWAP (S860P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160932	NM_004592.4(SFSWAP):c.2428C>T (p.Arg810Trp)	SFSWAP (R810W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160933	NM_004592.4(SFSWAP):c.2435G>A (p.Arg812Lys)	SFSWAP (R812K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301905	NM_004592.4(SFSWAP):c.2480C>T (p.Thr827Ile)	SFSWAP (T827I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559657	NM_004592.4(SFSWAP):c.2497C>T (p.Arg833Cys)	SFSWAP (R833C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544891	NM_004592.4(SFSWAP):c.2498G>A (p.Arg833His)	SFSWAP (R885H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160934	NM_004592.4(SFSWAP):c.2528G>A (p.Arg843His)	SFSWAP (R843H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522484	NM_004592.4(SFSWAP):c.2570G>A (p.Arg857Gln)	SFSWAP (R857Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317870	NM_004592.4(SFSWAP):c.2575C>T (p.Arg859Trp)	SFSWAP (R859W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643606	NM_004592.4(SFSWAP):c.2637C>T (p.Pro879=)	SFSWAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3160935	NM_004592.4(SFSWAP):c.2639C>T (p.Ala880Val)	SFSWAP (A880V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409629	NM_004592.4(SFSWAP):c.2648C>T (p.Ala883Val)	SFSWAP (A883V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280087	NM_004592.4(SFSWAP):c.2654A>C (p.His885Pro)	SFSWAP (H937P +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2391353	NM_004592.4(SFSWAP):c.2656T>G (p.Ser886Ala)	SFSWAP (S886A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590133	NM_004592.4(SFSWAP):c.2674G>A (p.Val892Ile)	SFSWAP (V892I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2523929	NM_004592.4(SFSWAP):c.2692C>T (p.Arg898Trp)	SFSWAP (R898W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617244	NM_004592.4(SFSWAP):c.2693G>T (p.Arg898Leu)	SFSWAP (R950L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226987	NM_004592.4(SFSWAP):c.2693G>A (p.Arg898Gln)	SFSWAP (R898Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684685	GRCh37/hg19 12q24.31-24.33(chr12:121551496-133777902)x3	AACS, ABCB9 +93 more	Copy number gain	not provided	GPathogenic
Select item 2684684	GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3	AACS, ABCB9 +108 more	Copy number gain	not provided	GPathogenic
Select item 1527747	GRCh37/hg19 12q24.33(chr12:131657203-133227428)	DDX51, EP400 +10 more	Copy number loss	not specified	GUncertain significance
Select item 1330196	GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3	AACS, ABCB9 +135 more	Copy number gain	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 981005	GRCh37/hg19 12q24.33(chr12:132230559-132545601)x3	EP400, MMP17 +3 more	Copy number gain	not provided	GUncertain significance
Select item 688011	GRCh37/hg19 12q24.32-24.33(chr12:126470636-133777902)x1	ADGRD1, ANKLE2 +32 more	Copy number loss	not provided	GUncertain significance
Select item 687663	GRCh37/hg19 12q24.33(chr12:131505849-132681966)x3	ADGRD1, DDX51 +6 more	Copy number gain	not provided	GUncertain significance
Select item 638102	GRCh37/hg19 12q24.33(chr12:131363916-133777645)x3	EP400, FBRSL1 +23 more	Copy number gain	See cases	GPathogenic
Select item 625819	GRCh37/hg19 12q24.31-24.33(chr12:125451405-133810935)	AACS, ADGRD1 +37 more	Copy number gain	not provided	GPathogenic
Select item 563980	GRCh37/hg19 12q24.33(chr12:130973400-133777902)x3	ZNF10, PGAM5 +26 more	Copy number gain	not provided	GLikely pathogenic
Select item 563961	GRCh37/hg19 12q24.33(chr12:131808459-132623611)x3	MMP17, PUS1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 394199	GRCh37/hg19 12q24.33(chr12:132073314-132457696)x3	ULK1, EP400 +3 more	Copy number gain	See cases	GUncertain significance
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 87