NKX6-1[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 149262	GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3	ABRAXAS1, ADAMTS3 +331 more	Copy number gain	See cases	GPathogenic
Select item 2579270	GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1	ABCG2, ABRAXAS1 +338 more	Copy number loss	Chromosome 4q21 deletion syndrome	GPathogenic
Select item 59455	GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1	ABCG2, ABRAXAS1 +251 more	Copy number loss	See cases	GPathogenic
Select item 147709	GRCh38/hg38 4q21.21-21.23(chr4:79786514-85832807)x1	BMP3, CDS1 +137 more	Copy number loss	See cases	GPathogenic
Select item 151718	GRCh38/hg38 4q21.21-21.3(chr4:80043949-86948317)x1	ABRAXAS1, AFF1 +146 more	Copy number loss	See cases	GPathogenic
Select item 148194	GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1	ABCG2, ABRAXAS1 +335 more	Copy number loss	See cases	GPathogenic
Select item 145649	GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1	ABCG2, ABRAXAS1 +244 more	Copy number loss	See cases	GPathogenic
Select item 147434	GRCh38/hg38 4q21.23-22.1(chr4:84329551-87679204)x1	AFF1, AFF1-AS1 +62 more	Copy number loss	See cases	GPathogenic
Select item 2404089	NM_006168.3(NKX6-1):c.967G>A (p.Asp323Asn)	NKX6-1 (D323N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784611	NM_006168.3(NKX6-1):c.903G>A (p.Thr301=)	NKX6-1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3200395	NM_006168.3(NKX6-1):c.902C>A (p.Thr301Lys)	NKX6-1 (T301K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224024	NM_006168.3(NKX6-1):c.563G>C (p.Gly188Ala)	NKX6-1 (G188A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481793	NM_006168.3(NKX6-1):c.479T>C (p.Leu160Pro)	NKX6-1 (L160P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373258	NM_006168.3(NKX6-1):c.406G>A (p.Ala136Thr)	NKX6-1 (A136T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598355	NM_006168.3(NKX6-1):c.325G>C (p.Val109Leu)	NKX6-1 (V109L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475936	NM_006168.3(NKX6-1):c.161C>T (p.Ser54Leu)	NKX6-1 (S54L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343919	NM_006168.3(NKX6-1):c.145T>C (p.Ser49Pro)	NKX6-1 (S49P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200394	NM_006168.3(NKX6-1):c.68C>A (p.Ala23Asp)	NKX6-1 (A23D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062764	GRCh37/hg19 4q21.21-22.3(chr4:81558759-95965995)x1	ABCG2, ABRAXAS1 +59 more	Copy number loss	not specified	GPathogenic
Select item 3062760	GRCh37/hg19 4q21.23-22.3(chr4:85139670-96295033)x3	ABCG2, AFF1 +40 more	Copy number gain	not specified	GLikely pathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685975	GRCh37/hg19 4q21.23(chr4:85213849-85679628)x3	CDS1, NKX6-1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1527103	GRCh37/hg19 4q21.21-22.1(chr4:81054789-90667421)	ABCG2, ABRAXAS1 +53 more	Copy number loss	not specified	GPathogenic
Select item 1527100	GRCh37/hg19 4q21.21-22.2(chr4:79780152-94873225)	ABCG2, ABRAXAS1 +63 more	Copy number loss	not specified	GPathogenic
Select item 1527097	GRCh37/hg19 4q13.3-22.1(chr4:75737340-91131156)	ABCG2, ABRAXAS1 +91 more	Copy number gain	not specified	GPathogenic
Select item 1341211	GRCh37/hg19 4q21.21-22.1(chr4:80467886-93362064)x1	ABCG2, ABRAXAS1 +58 more	Copy number loss	not provided	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 983172	GRCh37/hg19 4q13.3-21.3(chr4:71412409-87920784)x1	ABRAXAS1, ADAMTS3 +97 more	Copy number loss	See cases	GPathogenic
Select item 830313	Single allele	CDS1, COPS4 +16 more	Deletion	Chromosome 4q21 deletion syndrome	GPathogenic
Select item 814576	GRCh37/hg19 4q21.22-21.23(chr4:82593140-85651685)x1	ENOPH1, MRPS18C +17 more	Copy number loss	not provided	GPathogenic
Select item 814566	GRCh37/hg19 4q13.3-21.23(chr4:72680879-86426232)x1	CXCL3, LIN54 +82 more	Copy number loss	not provided	GPathogenic
Select item 638111	GRCh37/hg19 4q21.21-22.1(chr4:80482400-92572499)x1	GPRIN3, HELQ +57 more	Copy number loss	See cases	GPathogenic
Select item 625784	GRCh37/hg19 4q21.21-22.1(chr4:82043901-88334228)	ABRAXAS1, AFF1 +28 more	Copy number loss	not provided	GPathogenic
Select item 562939	GRCh37/hg19 4q21.23(chr4:84992498-85496127)x3	NKX6-1	Copy number gain	not provided	GUncertain significance
Select item 562937	GRCh37/hg19 4q21.21-22.3(chr4:81314915-96636651)x1	ABCG2, ABRAXAS1 +60 more	Copy number loss	not provided	GPathogenic
Select item 442552	GRCh37/hg19 4q21.22-21.23(chr4:83954528-85807754)x1	ABRAXAS1, CDS1 +9 more	Copy number loss	See cases	GUncertain significance
Select item 442256	GRCh37/hg19 4q21.23(chr4:84780467-85971501)x1	CDS1, NKX6-1 +1 more	Copy number loss	See cases	GUncertain significance
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394976	GRCh37/hg19 4q21.21-22.1(chr4:82283358-90341831)x1	ABCG2, ABRAXAS1 +47 more	Copy number loss	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic

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Items: 43