23480[HGNC] - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	PSMG3, PSMG3-AS1 +904 more	Copy number gain	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	LOC129997989, LOC129997990 +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 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 147563	GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3	LOC123924897, LOC123924898 +418 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	LOC110120728, LOC110120749 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	ABCB5, ACTB +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	LOC126860013, LOC126860014 +1298 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 57293	GRCh38/hg38 7p22.2-22.1(chr7:4469558-5111872)x3	AP5Z1, FOXK1 +33 more	Copy number gain	See cases	GUncertain significance
Select item 2349625	NM_001037165.2(FOXK1):c.127C>T (p.Pro43Ser)	FOXK1 (P43S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 776196	NM_001037165.2(FOXK1):c.202G>A (p.Ala68Thr)	FOXK1 (A68T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2255425	NM_001037165.2(FOXK1):c.226G>C (p.Gly76Arg)	FOXK1, LOC129997856 (G76R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255208	NM_001037165.2(FOXK1):c.269T>G (p.Leu90Arg)	FOXK1, LOC129997856 (L90R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616997	NM_001037165.2(FOXK1):c.320C>T (p.Ala107Val)	FOXK1 (A107V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351303	NM_001037165.2(FOXK1):c.430A>G (p.Ile144Val)	FOXK1 (I144V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303835	NM_001037165.2(FOXK1):c.482G>A (p.Arg161His)	FOXK1 (R161H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374738	NM_001037165.2(FOXK1):c.625G>A (p.Glu209Lys)	FOXK1 (E209K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494121	NM_001037165.2(FOXK1):c.626A>G (p.Glu209Gly)	FOXK1 (E209G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271197	NM_001037165.2(FOXK1):c.689C>T (p.Pro230Leu)	FOXK1 (P230L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223414	NM_001037165.2(FOXK1):c.704G>A (p.Arg235Gln)	FOXK1 (R235Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2657257	NM_001037165.2(FOXK1):c.930C>T (p.Tyr310=)	FOXK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2346301	NM_001037165.2(FOXK1):c.1000C>T (p.His334Tyr)	FOXK1 (H334Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 750543	NM_001037165.2(FOXK1):c.1035C>T (p.Ala345=)	FOXK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2369011	NM_001037165.2(FOXK1):c.1160C>G (p.Ala387Gly)	FOXK1 (A387G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389369	NM_001037165.2(FOXK1):c.1168G>A (p.Val390Met)	FOXK1 (V390M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 776197	NM_001037165.2(FOXK1):c.1293C>T (p.Ser431=)	FOXK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2234417	NM_001037165.2(FOXK1):c.1435G>A (p.Val479Met)	FOXK1 (V479M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303334	NM_001037165.2(FOXK1):c.1604C>G (p.Ala535Gly)	FOXK1 (A535G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370951	NM_001037165.2(FOXK1):c.1624A>C (p.Ser542Arg)	FOXK1 (S542R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289846	NM_001037165.2(FOXK1):c.1639G>A (p.Gly547Arg)	FOXK1 (G547R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256067	NM_001037165.2(FOXK1):c.1642G>T (p.Gly548Cys)	FOXK1 (G548C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351018	NM_001037165.2(FOXK1):c.1669G>A (p.Val557Met)	FOXK1 (V557M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365558	NM_001037165.2(FOXK1):c.1783G>A (p.Gly595Arg)	FOXK1, LOC126859935 (G595R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204247	NM_001037165.2(FOXK1):c.1799C>T (p.Thr600Met)	FOXK1, LOC126859935 (T600M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616604	NM_001037165.2(FOXK1):c.1826C>A (p.Pro609His)	FOXK1, LOC126859935 (P609H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245269	NM_001037165.2(FOXK1):c.1888G>T (p.Val630Phe)	FOXK1, LOC126859935 (V630F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345930	NM_001037165.2(FOXK1):c.1909G>A (p.Gly637Ser)	FOXK1, LOC126859935 (G637S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 776198	NM_001037165.2(FOXK1):c.1921+10T>C	FOXK1, LOC126859935	Single nucleotide variant (intron 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 2356645	NM_001037165.2(FOXK1):c.1969G>A (p.Ala657Thr)	FOXK1 (A657T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2376295	NM_001037165.2(FOXK1):c.1970C>T (p.Ala657Val)	FOXK1 (A657V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2657258	NM_001037165.2(FOXK1):c.2080G>A (p.Ala694Thr)	FOXK1 (A694T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 773475	NM_001037165.2(FOXK1):c.2172C>T (p.Ala724=)	FOXK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2346071	NM_001037165.2(FOXK1):c.2173G>A (p.Gly725Ser)	FOXK1 (G725S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263309	NM_001037165.2(FOXK1):c.2194G>C (p.Gly732Arg)	FOXK1 (G732R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 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	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +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	ACTB, ADAP1 +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	ACTB, ADAP1 +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

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Items: 79