ClinVar for Gene (Select 221937) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3279609	NM_001037165.2(FOXK1):c.155C>T (p.Pro52Leu)	FOXK1 (P52L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096457	NM_001037165.2(FOXK1):c.961G>A (p.Ala321Thr)	FOXK1 (A321T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096456	NM_001037165.2(FOXK1):c.859G>A (p.Ala287Thr)	FOXK1 (A287T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096455	NM_001037165.2(FOXK1):c.711G>A (p.Met237Ile)	FOXK1 (M237I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096454	NM_001037165.2(FOXK1):c.647G>A (p.Arg216Gln)	FOXK1 (R216Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096453	NM_001037165.2(FOXK1):c.425G>A (p.Ser142Asn)	FOXK1 (S142N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096452	NM_001037165.2(FOXK1):c.1799C>G (p.Thr600Arg)	FOXK1, LOC126859935 (T600R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096451	NM_001037165.2(FOXK1):c.1717A>G (p.Ile573Val)	FOXK1, LOC126859935 (I573V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096450	NM_001037165.2(FOXK1):c.1637C>T (p.Ala546Val)	FOXK1 (A546V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096449	NM_001037165.2(FOXK1):c.1478A>G (p.Lys493Arg)	FOXK1 (K493R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096447	NM_001037165.2(FOXK1):c.1421T>G (p.Val474Gly)	FOXK1 (V474G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096446	NM_001037165.2(FOXK1):c.1036G>A (p.Asp346Asn)	FOXK1 (D346N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684470	GRCh37/hg19 7p22.3-22.1(chr7:43361-5965440)x3	RNF216, SDK1 +48 more	Copy number gain	not provided	GPathogenic
Select item 2684469	GRCh37/hg19 7p22.3-21.3(chr7:43361-8890475)x3	PSMG3, RAC1 +73 more	Copy number gain	not provided	GPathogenic
Select item 2657258	NM_001037165.2(FOXK1):c.2080G>A (p.Ala694Thr)	FOXK1 (A694T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2657257	NM_001037165.2(FOXK1):c.930C>T (p.Tyr310=)	FOXK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2616997	NM_001037165.2(FOXK1):c.320C>T (p.Ala107Val)	FOXK1 (A107V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616604	NM_001037165.2(FOXK1):c.1826C>A (p.Pro609His)	FOXK1, LOC126859935 (P609H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494121	NM_001037165.2(FOXK1):c.626A>G (p.Glu209Gly)	FOXK1 (E209G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389369	NM_001037165.2(FOXK1):c.1168G>A (p.Val390Met)	FOXK1 (V390M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376295	NM_001037165.2(FOXK1):c.1970C>T (p.Ala657Val)	FOXK1 (A657V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374738	NM_001037165.2(FOXK1):c.625G>A (p.Glu209Lys)	FOXK1 (E209K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370951	NM_001037165.2(FOXK1):c.1624A>C (p.Ser542Arg)	FOXK1 (S542R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369011	NM_001037165.2(FOXK1):c.1160C>G (p.Ala387Gly)	FOXK1 (A387G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365558	NM_001037165.2(FOXK1):c.1783G>A (p.Gly595Arg)	FOXK1, LOC126859935 (G595R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356645	NM_001037165.2(FOXK1):c.1969G>A (p.Ala657Thr)	FOXK1 (A657T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2351303	NM_001037165.2(FOXK1):c.430A>G (p.Ile144Val)	FOXK1 (I144V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351018	NM_001037165.2(FOXK1):c.1669G>A (p.Val557Met)	FOXK1 (V557M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349625	NM_001037165.2(FOXK1):c.127C>T (p.Pro43Ser)	FOXK1 (P43S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346301	NM_001037165.2(FOXK1):c.1000C>T (p.His334Tyr)	FOXK1 (H334Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346071	NM_001037165.2(FOXK1):c.2173G>A (p.Gly725Ser)	FOXK1 (G725S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345930	NM_001037165.2(FOXK1):c.1909G>A (p.Gly637Ser)	FOXK1, LOC126859935 (G637S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303835	NM_001037165.2(FOXK1):c.482G>A (p.Arg161His)	FOXK1 (R161H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303334	NM_001037165.2(FOXK1):c.1604C>G (p.Ala535Gly)	FOXK1 (A535G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289846	NM_001037165.2(FOXK1):c.1639G>A (p.Gly547Arg)	FOXK1 (G547R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271197	NM_001037165.2(FOXK1):c.689C>T (p.Pro230Leu)	FOXK1 (P230L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263309	NM_001037165.2(FOXK1):c.2194G>C (p.Gly732Arg)	FOXK1 (G732R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256067	NM_001037165.2(FOXK1):c.1642G>T (p.Gly548Cys)	FOXK1 (G548C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255425	NM_001037165.2(FOXK1):c.226G>C (p.Gly76Arg)	FOXK1, LOC129997856 (G76R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255208	NM_001037165.2(FOXK1):c.269T>G (p.Leu90Arg)	FOXK1, LOC129997856 (L90R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245269	NM_001037165.2(FOXK1):c.1888G>T (p.Val630Phe)	FOXK1, LOC126859935 (V630F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234417	NM_001037165.2(FOXK1):c.1435G>A (p.Val479Met)	FOXK1 (V479M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223414	NM_001037165.2(FOXK1):c.704G>A (p.Arg235Gln)	FOXK1 (R235Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204247	NM_001037165.2(FOXK1):c.1799C>T (p.Thr600Met)	FOXK1, LOC126859935 (T600M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809374	GRCh37/hg19 7p22.1(chr7:4655928-5990874)x1	ACTB, AP5Z1 +15 more	Copy number loss	not provided	GPathogenic
Select item 1711132	GRCh37/hg19 7p22.3-21.3(chr7:43360-9649794)x3	MAD1L1, MAFK +73 more	Copy number gain	See cases	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1708194	GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3	ACTB, ADAP1 +98 more	Copy number gain	See cases	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 980815	GRCh37/hg19 7p22.2-22.1(chr7:4482581-4738635)x3	FOXK1	Copy number gain	not provided	GUncertain significance
Select item 980814	GRCh37/hg19 7p22.2-22.1(chr7:4457599-5138409)x3	AP5Z1, FOXK1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 980813	GRCh37/hg19 7p22.2-22.1(chr7:4239038-4775277)x3	FOXK1, SDK1	Copy number gain	not provided	GUncertain significance
Select item 980262	GRCh37/hg19 7p22.1(chr7:4733073-5157165)x3	RBAK, RBAK-RBAKDN +5 more	Copy number gain	not provided	GUncertain significance
Select item 974754	NC_000007.13:g.4736454_4860123dup	AP5Z1, FOXK1 +1 more	Duplication	Megacolon	GUncertain significance
Select item 814914	GRCh37/hg19 7p22.3-21.3(chr7:1648373-10627513)x3	ACTB, AIMP2 +54 more	Copy number gain	not provided	GPathogenic
Select item 776198	NM_001037165.2(FOXK1):c.1921+10T>C	LOC126859935, FOXK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 776197	NM_001037165.2(FOXK1):c.1293C>T (p.Ser431=)	FOXK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776196	NM_001037165.2(FOXK1):c.202G>A (p.Ala68Thr)	FOXK1 (A68T)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 773475	NM_001037165.2(FOXK1):c.2172C>T (p.Ala724=)	FOXK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 750543	NM_001037165.2(FOXK1):c.1035C>T (p.Ala345=)	FOXK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 742980	NM_001037165.2(FOXK1):c.1968C>T (p.Ser656=)	FOXK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 687401	GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3	ACTB, ADAP1 +98 more	Copy number gain	not provided	GPathogenic
Select item 684949	GRCh37/hg19 7p22.1(chr7:4807055-4930807)x1	AP5Z1, FOXK1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 563411	GRCh37/hg19 7p22.2-21.3(chr7:4388620-7302293)x3	ACTB, AIMP2 +33 more	Copy number gain	not provided	GPathogenic
Select item 548976	GRCh37/hg19 7p22.1(chr7:4644965-5436368)x3	AP5Z1, FOXK1 +8 more	Copy number gain	See cases	GLikely pathogenic
Select item 446329	GRCh37/hg19 7p22.3-21.3(chr7:2789546-9066894)x3	AP5Z1, C1GALT1 +42 more	Copy number gain	See cases	GPathogenic
Select item 443317	GRCh37/hg19 7p22.2-22.1(chr7:4412278-4933853)x3	AP5Z1, FOXK1 +3 more	Copy number gain	See cases	GUncertain significance
Select item 443071	GRCh37/hg19 7p22.3-21.3(chr7:43360-12098696)x3	ACTB, ADAP1 +76 more	Copy number gain	See cases	GPathogenic
Select item 443024	GRCh37/hg19 7p22.3-22.1(chr7:1201674-5175651)x1	AMZ1, AP5Z1 +26 more	Copy number loss	See cases	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442824	GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3	ABCB5, ACTB +158 more	Copy number gain	See cases	GPathogenic
Select item 442624	GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3	ABCB5, ACTB +121 more	Copy number gain	See cases	GPathogenic
Select item 442503	GRCh37/hg19 7p22.3-21.3(chr7:43360-11567351)x3	DAGLB, DNAAF5 +76 more	Copy number gain	See cases	GPathogenic
Select item 442159	GRCh37/hg19 7p22.3-21.2(chr7:43360-14664158)x3	ACTB, ADAP1 +82 more	Copy number gain	See cases	GPathogenic
Select item 394924	GRCh37/hg19 7p22.1(chr7:4725191-4802265)x1	FOXK1	Copy number loss	See cases	GUncertain significance
Select item 393941	GRCh37/hg19 7p22.3-21.3(chr7:183556-12746636)x3	TNRC18, TTYH3 +80 more	Copy number gain	See cases	GPathogenic
Select item 254008	GRCh37/hg19 7p22.1(chr7:4560890-5028707)x1	AP5Z1, RADIL +3 more	Copy number loss	See cases	GUncertain significance
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 148450	GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3	ACTB, ADAP1 +439 more	Copy number gain	See cases	GPathogenic
Select item 147563	GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3	ACTB, ADAP1 +418 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 59675	GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3	BRAT1, ACTB +381 more	Copy number gain	See cases	GPathogenic
Select item 58492	GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1	ACTB, ADAP1 +357 more	Copy number loss	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 57293	GRCh38/hg38 7p22.2-22.1(chr7:4469558-5111872)x3	AP5Z1, FOXK1 +33 more	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 91