NKX2-3[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 57907	GRCh38/hg38 10q24.2-24.31(chr10:99333940-100475567)x3	LOC126861015, LOC129390222 +63 more	Copy number gain	See cases	GUncertain significance
Select item 146346	GRCh38/hg38 10q24.2-24.31(chr10:99386632-100648221)x3	ABCC2, BLOC1S2 +72 more	Copy number gain	See cases	GUncertain significance
Select item 3200357	NM_145285.3(NKX2-3):c.71A>G (p.His24Arg)	NKX2-3 (H24R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299911	NM_145285.3(NKX2-3):c.112C>A (p.His38Asn)	NKX2-3 (H38N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385662	NM_145285.3(NKX2-3):c.137T>C (p.Met46Thr)	NKX2-3 (M46T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200351	NM_145285.3(NKX2-3):c.151G>A (p.Glu51Lys)	NKX2-3 (E51K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200352	NM_145285.3(NKX2-3):c.155G>A (p.Gly52Glu)	NKX2-3 (G52E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200353	NM_145285.3(NKX2-3):c.200G>C (p.Gly67Ala)	NKX2-3 (G67A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206948	NM_145285.3(NKX2-3):c.253T>G (p.Ser85Ala)	NKX2-3 (S85A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289536	NM_145285.3(NKX2-3):c.297C>G (p.Asp99Glu)	NKX2-3 (D99E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306276	NM_145285.3(NKX2-3):c.307G>A (p.Glu103Lys)	NKX2-3 (E103K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200354	NM_145285.3(NKX2-3):c.320A>G (p.His107Arg)	NKX2-3 (H107R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240598	NM_145285.3(NKX2-3):c.331C>A (p.Pro111Thr)	NKX2-3 (P111T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299912	NM_145285.3(NKX2-3):c.337G>T (p.Val113Phe)	NKX2-3 (V113F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271064	NM_145285.3(NKX2-3):c.346G>T (p.Asp116Tyr)	NKX2-3 (D116Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200355	NM_145285.3(NKX2-3):c.452C>T (p.Pro151Leu)	NKX2-3 (P151L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640746	NM_145285.3(NKX2-3):c.468G>A (p.Ser156=)	NKX2-3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2213195	NM_145285.3(NKX2-3):c.502A>G (p.Lys168Glu)	NKX2-3 (K168E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535172	NM_145285.3(NKX2-3):c.614G>A (p.Arg205Lys)	NKX2-3 (R205K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604678	NM_145285.3(NKX2-3):c.679G>A (p.Ala227Thr)	LOC130004501, NKX2-3 (A227T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524159	NM_145285.3(NKX2-3):c.703G>C (p.Gly235Arg)	LOC130004501, NKX2-3 (G235R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200358	NM_145285.3(NKX2-3):c.742G>A (p.Ala248Thr)	LOC130004501, NKX2-3 (A248T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268540	NM_145285.3(NKX2-3):c.787C>T (p.Pro263Ser)	LOC130004501, NKX2-3 (P263S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640747	NM_145285.3(NKX2-3):c.846A>T (p.Ala282=)	NKX2-3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640748	NM_145285.3(NKX2-3):c.849A>T (p.Ala283=)	NKX2-3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2344042	NM_145285.3(NKX2-3):c.862A>G (p.Ser288Gly)	NKX2-3 (S288G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280740	NM_145285.3(NKX2-3):c.920C>T (p.Ser307Phe)	NKX2-3 (S307F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063183	GRCh37/hg19 10q23.33-24.2(chr10:94283369-101820913)x1	ABCC2, ACSM6 +74 more	Copy number loss	not specified	GPathogenic
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2424090	NC_000010.10:g.(?_99344461)_(105992004_?)dup	CPN1, CRTAC1 +95 more	Duplication	not provided	GUncertain significance
Select item 1460184	NC_000010.10:g.(?_100177321)_(101611388_?)del	ABCC2, CNNM1 +8 more	Deletion	not provided	GPathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441822	GRCh37/hg19 10q23.32-24.2(chr10:93908171-101809723)x1	ABCC2, ACSM6 +76 more	Copy number loss	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 377387	GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1	CYP17A1, KLLN +206 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response

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Items: 43