ClinVar for Gene (Select 3607) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3279616	NM_004514.4(FOXK2):c.962G>A (p.Arg321His)	FOXK2 (R321H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279615	NM_004514.4(FOXK2):c.13G>T (p.Ala5Ser)	FOXK2 (A5S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279614	NM_004514.4(FOXK2):c.823C>T (p.Pro275Ser)	FOXK2 (P275S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279613	NM_004514.4(FOXK2):c.1909G>A (p.Gly637Ser)	FOXK2 (G637S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279611	NM_004514.4(FOXK2):c.1640A>C (p.Gln547Pro)	FOXK2 (Q547P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279610	NM_004514.4(FOXK2):c.1857C>A (p.His619Gln)	FOXK2 (H619Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3243134	NC_000017.10:g.(?_79477716)_(80901020_?)dup	ACTG1, ALYREF +52 more	Duplication	not provided	GUncertain significance
Select item 3242977	NC_000017.10:g.(?_80039865)_(80901020_?)dup	CCDC57, CD7 +18 more	Duplication	Epileptic encephalopathy	GUncertain significance
Select item 3096469	NM_004514.4(FOXK2):c.698A>G (p.Asn233Ser)	FOXK2 (N233S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3096467	NM_004514.4(FOXK2):c.539C>T (p.Ser180Leu)	FOXK2 (S180L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096466	NM_004514.4(FOXK2):c.418G>A (p.Val140Met)	FOXK2, LOC130062047 (V140M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096465	NM_004514.4(FOXK2):c.1793C>T (p.Ala598Val)	FOXK2 (A598V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096464	NM_004514.4(FOXK2):c.1769A>G (p.His590Arg)	FOXK2 (H590R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096463	NM_004514.4(FOXK2):c.1709T>C (p.Leu570Pro)	FOXK2 (L570P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096462	NM_004514.4(FOXK2):c.1670T>C (p.Val557Ala)	FOXK2 (V557A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096461	NM_004514.4(FOXK2):c.1560C>A (p.Asp520Glu)	FOXK2 (D520E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096460	NM_004514.4(FOXK2):c.1478C>T (p.Thr493Met)	FOXK2 (T493M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096459	NM_004514.4(FOXK2):c.1391A>G (p.Gln464Arg)	FOXK2 (Q464R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096458	NM_004514.4(FOXK2):c.1315G>A (p.Val439Ile)	FOXK2 (V439I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024770	NM_004514.4(FOXK2):c.1572C>G (p.Val524=)	FOXK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2671602	Single allele	ASPSCR1, B3GNTL1 +28 more	Duplication	not provided	GUncertain significance
Select item 2611691	NM_004514.4(FOXK2):c.1498G>C (p.Ala500Pro)	FOXK2 (A500P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592797	NM_004514.4(FOXK2):c.65G>A (p.Gly22Asp)	FOXK2 (G22D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590497	NM_004514.4(FOXK2):c.1652C>G (p.Thr551Ser)	FOXK2 (T551S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569294	NM_004514.4(FOXK2):c.1772G>C (p.Gly591Ala)	FOXK2 (G591A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546484	NM_004514.4(FOXK2):c.395C>T (p.Ala132Val)	FOXK2, LOC130062047 (A132V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544600	NM_004514.4(FOXK2):c.1612A>G (p.Thr538Ala)	FOXK2 (T538A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534170	NM_004514.4(FOXK2):c.298C>T (p.Pro100Ser)	FOXK2 (P100S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513128	NM_004514.4(FOXK2):c.875A>T (p.Tyr292Phe)	FOXK2 (Y292F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510047	NM_004514.4(FOXK2):c.1393C>T (p.Pro465Ser)	FOXK2 (P465S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499662	GRCh38/hg38 17q25.3(chr17:82004063-83087346)	ASPSCR1, B3GNTL1 +130 more	Copy number loss	Anomalous pulmonary venous return	GUncertain significance
Select item 2482793	NM_004514.4(FOXK2):c.1299G>T (p.Gln433His)	FOXK2 (Q433H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478825	NM_004514.4(FOXK2):c.1732A>C (p.Asn578His)	FOXK2 (N578H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475926	NM_004514.4(FOXK2):c.815C>T (p.Thr272Met)	FOXK2 (T272M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474188	NM_004514.4(FOXK2):c.899A>G (p.Lys300Arg)	FOXK2 (K300R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460757	NM_004514.4(FOXK2):c.1543G>T (p.Ala515Ser)	FOXK2 (A515S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454694	NM_004514.4(FOXK2):c.323G>A (p.Gly108Asp)	FOXK2 (G108D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445210	Single allele	FOXK2, GCGR +51 more	Deletion	See cases	GPathogenic
Select item 2424500	NC_000017.10:g.(?_79477716)_(80900339_?)dup	ACTG1, ALYREF +52 more	Duplication	not provided	GUncertain significance
Select item 2423509	NC_000017.10:g.(?_80332201)_(80758892_?)dup	CYBC1, FN3K +10 more	Duplication	not provided	GUncertain significance
Select item 2410699	NM_004514.4(FOXK2):c.1459G>A (p.Gly487Arg)	FOXK2 (G487R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403151	NM_004514.4(FOXK2):c.53G>T (p.Gly18Val)	FOXK2 (G18V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388452	NM_004514.4(FOXK2):c.1375A>G (p.Thr459Ala)	FOXK2 (T459A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387583	NM_004514.4(FOXK2):c.1438G>A (p.Val480Met)	FOXK2 (V480M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370495	NM_004514.4(FOXK2):c.1808T>C (p.Met603Thr)	FOXK2 (M603T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360229	NM_004514.4(FOXK2):c.1676T>C (p.Ile559Thr)	FOXK2 (I559T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357536	NM_004514.4(FOXK2):c.1382C>T (p.Ser461Leu)	FOXK2 (S461L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357274	NM_004514.4(FOXK2):c.13G>C (p.Ala5Pro)	FOXK2 (A5P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349470	NM_004514.4(FOXK2):c.1771G>A (p.Gly591Ser)	FOXK2 (G591S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344072	NM_004514.4(FOXK2):c.59C>T (p.Ala20Val)	FOXK2 (A20V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338376	NM_004514.4(FOXK2):c.1946C>T (p.Pro649Leu)	FOXK2 (P649L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337291	NM_004514.4(FOXK2):c.1625C>G (p.Ala542Gly)	FOXK2 (A542G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310482	NM_004514.4(FOXK2):c.44C>T (p.Pro15Leu)	FOXK2 (P15L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305501	NM_004514.4(FOXK2):c.1588C>G (p.Pro530Ala)	FOXK2 (P530A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300507	NM_004514.4(FOXK2):c.458C>T (p.Thr153Met)	FOXK2 (T153M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299329	NM_004514.4(FOXK2):c.1973T>A (p.Val658Asp)	FOXK2 (V658D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289597	NM_004514.4(FOXK2):c.1216C>A (p.Pro406Thr)	FOXK2 (P406T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269740	NM_004514.4(FOXK2):c.493C>G (p.Gln165Glu)	FOXK2 (Q165E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265997	NM_004514.4(FOXK2):c.1511C>A (p.Pro504Gln)	FOXK2 (P504Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2252531	NM_004514.4(FOXK2):c.448A>G (p.Ile150Val)	FOXK2 (I150V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243853	NM_004514.4(FOXK2):c.1537G>A (p.Ala513Thr)	FOXK2 (A513T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242493	NM_004514.4(FOXK2):c.1496A>G (p.Gln499Arg)	FOXK2 (Q499R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231101	NM_004514.4(FOXK2):c.1486G>A (p.Val496Ile)	FOXK2 (V496I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222220	NM_004514.4(FOXK2):c.1445T>A (p.Val482Asp)	FOXK2 (V482D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217129	NM_004514.4(FOXK2):c.1416C>G (p.His472Gln)	FOXK2 (H472Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206698	NM_004514.4(FOXK2):c.1861G>A (p.Gly621Ser)	FOXK2 (G621S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204276	NM_004514.4(FOXK2):c.7G>T (p.Ala3Ser)	FOXK2 (A3S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707631	GRCh37/hg19 17q25.3(chr17:80509676-81162701)x3	B3GNTL1, FN3K +7 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	EVPL, EXOC7 +146 more	Copy number gain	not provided	GPathogenic
Select item 1526589	GRCh37/hg19 17q25.3(chr17:79976464-81041938)	B3GNTL1, CCDC57 +27 more	Copy number loss	not specified	GUncertain significance
Select item 1340721	GRCh37/hg19 17q25.3(chr17:80555363-81041938)x1	B3GNTL1, FN3K +7 more	Copy number loss	not provided	GUncertain significance
Select item 1340494	GRCh37/hg19 17q25.3(chr17:80396464-80698039)x3	CYBC1, FN3K +6 more	Copy number gain	not provided	GUncertain significance
Select item 1145377	NM_004514.4(FOXK2):c.1576+55_1576+201del	FOXK2	Deletion (splice donor variant)	not provided	GLikely benign
Select item 1098564	GRCh38/hg38 17q25.3(chr17:82586979-83257441)x1	B3GNTL1, FN3KRP +40 more	Copy number loss	See cases	GUncertain significance
Select item 988934	GRCh37/hg19 17q25.3(chr17:80544251-81152210)x1	B3GNTL1, FN3K +7 more	Copy number loss	not provided	GUncertain significance
Select item 797530	NM_004514.4(FOXK2):c.1164G>A (p.Gln388=)	FOXK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 797488	NM_004514.4(FOXK2):c.75C>A (p.Ala25=)	FOXK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 788612	NM_004514.4(FOXK2):c.1576+9A>G	FOXK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 784706	NM_004514.4(FOXK2):c.419+7G>T	FOXK2, LOC130062047	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 779465	NM_004514.4(FOXK2):c.1472C>T (p.Ala491Val)	FOXK2 (A491V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 779464	NM_004514.4(FOXK2):c.1419C>T (p.Val473=)	FOXK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778757	NM_004514.4(FOXK2):c.1518C>T (p.Ala506=)	FOXK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 770801	NM_004514.4(FOXK2):c.58GCCGGGGGCGGCGGG[1] (p.20AGGGG[1])	FOXK2	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 770275	NM_004514.4(FOXK2):c.1576+44_1576+93del	FOXK2	Deletion (intron variant)	not provided	GBenign
Select item 743249	NM_004514.4(FOXK2):c.1353C>T (p.Thr451=)	FOXK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 739518	NM_004514.4(FOXK2):c.1110C>T (p.Ala370=)	FOXK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 736019	NM_004514.4(FOXK2):c.1786+9T>G	FOXK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 734419	NM_004514.4(FOXK2):c.1874A>C (p.Glu625Ala)	FOXK2 (E625A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 731256	NM_004514.4(FOXK2):c.1515A>T (p.Ala505=)	FOXK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 730235	NM_004514.4(FOXK2):c.846C>T (p.Asn282=)	FOXK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 728517	NM_004514.4(FOXK2):c.1512G>A (p.Pro504=)	FOXK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 726467	NM_004514.4(FOXK2):c.1644G>A (p.Thr548=)	FOXK2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 725723	NM_004514.4(FOXK2):c.1668G>A (p.Thr556=)	FOXK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 722678	NM_004514.4(FOXK2):c.1569_1576+90del	FOXK2	Deletion (splice donor variant)	not provided	GBenign
Select item 719113	NM_004514.4(FOXK2):c.1899G>C (p.Lys633Asn)	FOXK2 (K633N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 717485	NM_004514.4(FOXK2):c.777G>T (p.Pro259=)	FOXK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 711696	NM_004514.4(FOXK2):c.228C>T (p.Ser76=)	FOXK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 711215	NM_004514.4(FOXK2):c.1576+8dup	FOXK2	Duplication (intron variant)	not provided	GBenign
Select item 711214	NM_004514.4(FOXK2):c.1576+3A>G	FOXK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 708152	NM_004514.4(FOXK2):c.1569_1576+40del	FOXK2	Deletion (splice donor variant)	not provided	GLikely benign

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