NKX2-4[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 146116	GRCh38/hg38 20p12.1-11.22(chr20:17772771-21426789)x1	CFAP61, CFAP61-AS1 +117 more	Copy number loss	See cases	GPathogenic
Select item 2499628	GRCh38/hg38 20p11.22(chr20:21386174-21530996)	LOC110121332, LOC112268271 +6 more	Copy number loss	See cases	GUncertain significance
Select item 2389990	NM_033176.2(NKX2-4):c.1010G>T (p.Gly337Val)	NKX2-4 (G337V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200368	NM_033176.2(NKX2-4):c.958C>T (p.Pro320Ser)	NKX2-4 (P320S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588975	NM_033176.2(NKX2-4):c.917C>G (p.Pro306Arg)	NKX2-4 (P306R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3299913	NM_033176.2(NKX2-4):c.902C>T (p.Pro301Leu)	NKX2-4 (P301L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299914	NM_033176.2(NKX2-4):c.884C>T (p.Thr295Ile)	NKX2-4 (T295I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607238	NM_033176.2(NKX2-4):c.851G>A (p.Gly284Asp)	NKX2-4 (G284D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200367	NM_033176.2(NKX2-4):c.821G>T (p.Arg274Leu)	NKX2-4 (R274L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235843	NM_033176.2(NKX2-4):c.803C>T (p.Pro268Leu)	NKX2-4 (P268L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3299915	NM_033176.2(NKX2-4):c.778G>A (p.Gly260Ser)	NKX2-4 (G260S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200366	NM_033176.2(NKX2-4):c.718C>T (p.His240Tyr)	NKX2-4 (H240Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299919	NM_033176.2(NKX2-4):c.702G>C (p.Lys234Asn)	NKX2-4 (K234N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769995	NM_033176.2(NKX2-4):c.699C>G (p.Val233=)	NKX2-4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3200365	NM_033176.2(NKX2-4):c.677T>G (p.Ile226Ser)	NKX2-4 (I226S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200364	NM_033176.2(NKX2-4):c.596C>A (p.Ala199Glu)	NKX2-4 (A199E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200363	NM_033176.2(NKX2-4):c.563C>G (p.Pro188Arg)	NKX2-4 (P188R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221334	NM_033176.2(NKX2-4):c.563C>T (p.Pro188Leu)	NKX2-4 (P188L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299916	NM_033176.2(NKX2-4):c.545C>T (p.Ala182Val)	NKX2-4 (A182V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364478	NM_033176.2(NKX2-4):c.507C>G (p.Ile169Met)	NKX2-4 (I169M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523711	NM_033176.2(NKX2-4):c.482C>T (p.Ala161Val)	NKX2-4 (A161V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299917	NM_033176.2(NKX2-4):c.456G>A (p.Met152Ile)	NKX2-4 (M152I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200361	NM_033176.2(NKX2-4):c.388G>A (p.Gly130Ser)	NKX2-4 (G130S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605097	NM_033176.2(NKX2-4):c.344T>C (p.Leu115Pro)	NKX2-4 (L115P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352671	NM_033176.2(NKX2-4):c.326G>C (p.Ser109Thr)	NKX2-4 (S109T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534338	NM_033176.2(NKX2-4):c.325A>G (p.Ser109Gly)	NKX2-4 (S109G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2652236	NM_033176.2(NKX2-4):c.288G>T (p.Pro96=)	NKX2-4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2340144	NM_033176.2(NKX2-4):c.268G>A (p.Ala90Thr)	NKX2-4 (A90T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615735	NM_033176.2(NKX2-4):c.238G>C (p.Ala80Pro)	NKX2-4 (A80P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200359	NM_033176.2(NKX2-4):c.218G>A (p.Gly73Asp)	NKX2-4 (G73D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283247	NM_033176.2(NKX2-4):c.205C>T (p.His69Tyr)	NKX2-4 (H69Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348565	NM_033176.2(NKX2-4):c.125T>C (p.Leu42Pro)	NKX2-4 (L42P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551122	NM_033176.2(NKX2-4):c.103C>T (p.Pro35Ser)	NKX2-4 (P35S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200360	NM_033176.2(NKX2-4):c.23C>G (p.Thr8Arg)	NKX2-4 (T8R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068499	Single allele	CFAP61, CRNKL1 +10 more	Complex	Hyperinsulinemic hypoglycemia, familial, 1	GLikely pathogenic
Select item 3068498	NC_000020.10:g.16400000_24400000del	BANF2, BFSP1 +49 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3068497	NC_000020.10:g.18200000_22600000del	CFAP61, CRNKL1 +19 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3068496	NC_000020.10:g.19434987_22528253del	CFAP61, CRNKL1 +10 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3068495	NC_000020.10:g.20158646_24080787del	CD93, CFAP61 +24 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	THBD, TMC2 +164 more	Copy number gain	not provided	GPathogenic
Select item 1526686	GRCh37/hg19 20p11.23-11.22(chr20:19292925-22187397)	CFAP61, CRNKL1 +10 more	Copy number loss	not specified	GPathogenic
Select item 1341087	GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3	ABHD12, ACSS1 +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 1340948	GRCh37/hg19 20p11.23-11.22(chr20:21098319-21512672)x3	KIZ, NKX2-2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 979562	GRCh37/hg19 20p11.23-q11.21(chr20:19750804-30479077)x3	CST9, ACSS1 +57 more	Copy number gain	not provided	GLikely pathogenic
Select item 816114	GRCh37/hg19 20p12.3-11.22(chr20:8571696-22088650)x1	ANKEF1, BANF2 +49 more	Copy number loss	not provided	GPathogenic
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 686437	GRCh37/hg19 20p11.23-11.22(chr20:20817608-21771865)x3	KIZ, NKX2-2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 564639	GRCh37/hg19 20p11.23-11.21(chr20:21011162-22353628)x3	PAX1, XRN2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 560101	Single allele	HCK, HM13 +89 more	Duplication	not provided	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 442830	GRCh37/hg19 20p11.23-11.1(chr20:18500917-25847320)x1	ABHD12, ACSS1 +44 more	Copy number loss	See cases	GPathogenic
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	ESF1, FAM110A +178 more	Copy number gain	not provided	GPathogenic
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253408	GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3	CCM2L, CD93 +89 more	Copy number gain	See cases	GPathogenic

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Items: 61