NKX3-2[Gene Name] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 150735	GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1	AFAP1, AFAP1-AS1 +633 more	Copy number loss	See cases	GPathogenic
Select item 147969	GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3	ABLIM2, ACOX3 +674 more	Copy number gain	See cases	GPathogenic
Select item 57874	GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1	ABLIM2, ACOX3 +597 more	Copy number loss	See cases	GPathogenic
Select item 155646	GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1	LOC129992028, LOC129992029 +691 more	Copy number loss	See cases	GPathogenic
Select item 155619	GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1	LOC129992002, LOC129992003 +597 more	Copy number loss	See cases	GPathogenic
Select item 149255	GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3	LOC126806993, LOC126806994 +702 more	Copy number gain	See cases	GPathogenic
Select item 146353	GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1	ABLIM2, ACOX3 +657 more	Copy number loss	See cases	GPathogenic
Select item 146219	GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1	ABLIM2, ACOX3 +623 more	Copy number loss	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 more	Copy number gain	See cases	GPathogenic
Select item 58011	GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	LOC129992237, LOC129992238 +861 more	Copy number gain	See cases	GPathogenic
Select item 57902	GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	LOC129992157, LOC129992158 +832 more	Copy number loss	See cases	GPathogenic
Select item 146023	GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3	ABLIM2, ACOX3 +618 more	Copy number gain	See cases	GPathogenic
Select item 58015	GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	SOD3, SORCS2 +987 more	Copy number gain	See cases	GPathogenic
Select item 58013	GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3	ABLIM2, ACOX3 +716 more	Copy number gain	See cases	GPathogenic
Select item 57937	GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1	ABLIM2, ACOX3 +659 more	Copy number loss	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 153003	GRCh38/hg38 4p16.3-15.32(chr4:4426403-17460549)x1	ABLIM2, ACOX3 +365 more	Copy number loss	See cases	GPathogenic
Select item 626310	NC_000004.12:g.8398067_17505522inv	ACOX3, BOD1L1 +193 more	Inversion	Dihydropteridine reductase deficiency	GPathogenic
Select item 2445987	GRCh38/hg38 4p15.33-14(chr4:11399082-38137335)	FGFBP1, LOC126806998 +393 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
Select item 147370	GRCh38/hg38 4p15.33(chr4:11610765-13822432)x3	BOD1L1, LINC01096 +27 more	Copy number gain	See cases	GUncertain significance
Select item 149143	GRCh38/hg38 4p15.33(chr4:12959891-14417711)x3	BOD1L1, LINC01085 +24 more	Copy number gain	See cases	GUncertain significance
Select item 1257751	NM_001189.4(NKX3-2):c.*176T>C	NKX3-2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 717206	NM_001189.4(NKX3-2):c.987C>T (p.Ala329=)	NKX3-2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2049313	NM_001189.4(NKX3-2):c.969C>T (p.Leu323=)	NKX3-2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 288013	NM_001189.4(NKX3-2):c.942G>C (p.Pro314=)	NKX3-2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1411460	NM_001189.4(NKX3-2):c.929C>A (p.Ser310Tyr)	NKX3-2 (S310Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1111841	NM_001189.4(NKX3-2):c.919C>G (p.Leu307Val)	NKX3-2 (L307V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3058375	NM_001189.4(NKX3-2):c.906C>T (p.Pro302=)	NKX3-2	Single nucleotide variant (synonymous variant)	NKX3-2-related disorder	GLikely benign
Select item 2959989	NM_001189.4(NKX3-2):c.906C>A (p.Pro302=)	NKX3-2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3299936	NM_001189.4(NKX3-2):c.898C>G (p.Arg300Gly)	NKX3-2 (R300G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3200391	NM_001189.4(NKX3-2):c.887G>A (p.Gly296Asp)	NKX3-2 (G296D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299935	NM_001189.4(NKX3-2):c.883C>A (p.Pro295Thr)	NKX3-2 (P295T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1093922	NM_001189.4(NKX3-2):c.882G>T (p.Leu294=)	NKX3-2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 595512	NM_001189.4(NKX3-2):c.873A>G (p.Arg291=)	NKX3-2	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2999344	NM_001189.4(NKX3-2):c.867C>T (p.Asp289=)	NKX3-2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1536028	NM_001189.4(NKX3-2):c.861C>G (p.Arg287=)	NKX3-2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2512790	NM_001189.4(NKX3-2):c.860G>T (p.Arg287Leu)	NKX3-2 (R287L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1602443	NM_001189.4(NKX3-2):c.843C>T (p.Ala281=)	NKX3-2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2010694	NM_001189.4(NKX3-2):c.822G>T (p.Ala274=)	NKX3-2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1634025	NM_001189.4(NKX3-2):c.720C>T (p.Ala240=)	NKX3-2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1977372	NM_001189.4(NKX3-2):c.717G>A (p.Leu239=)	NKX3-2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1634214	NM_001189.4(NKX3-2):c.711A>T (p.Ala237=)	NKX3-2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1439291	NM_001189.4(NKX3-2):c.700C>T (p.Pro234Ser)	NKX3-2 (P234S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1077483	NM_001189.4(NKX3-2):c.669C>T (p.Arg223=)	LOC129992265, NKX3-2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1983001	NM_001189.4(NKX3-2):c.668G>A (p.Arg223His)	LOC129992265, NKX3-2 (R223H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1495071	NM_001189.4(NKX3-2):c.657C>G (p.Phe219Leu)	LOC129992265, NKX3-2 (F219L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2249190	NM_001189.4(NKX3-2):c.646G>A (p.Ala216Thr)	LOC129992265, NKX3-2 (A216T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1047713	NM_001189.4(NKX3-2):c.634G>T (p.Ala212Ser)	LOC129992265, NKX3-2 (A212S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2111576	NM_001189.4(NKX3-2):c.621G>A (p.Lys207=)	LOC129992265, NKX3-2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2601524	NM_001189.4(NKX3-2):c.613C>A (p.Arg205Ser)	LOC129992265, NKX3-2 (R205S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3005122	NM_001189.4(NKX3-2):c.603G>T (p.Ala201=)	LOC129992265, NKX3-2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 597510	NM_001189.4(NKX3-2):c.599C>T (p.Ala200Val)	LOC129992265, NKX3-2 (A200V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2965842	NM_001189.4(NKX3-2):c.597G>T (p.Pro199=)	LOC129992265, NKX3-2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1400680	NM_001189.4(NKX3-2):c.596C>A (p.Pro199Gln)	LOC129992265, NKX3-2 (P199Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2311195	NM_001189.4(NKX3-2):c.578C>A (p.Ala193Glu)	LOC129992265, NKX3-2 (A193E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1714606	NM_001189.4(NKX3-2):c.566C>T (p.Pro189Leu)	LOC129992265, NKX3-2 (P189L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2173478	NM_001189.4(NKX3-2):c.564G>C (p.Gly188=)	LOC129992265, NKX3-2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1417447	NM_001189.4(NKX3-2):c.562G>T (p.Gly188Trp)	LOC129992265, NKX3-2 (G188W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1487626	NM_001189.4(NKX3-2):c.559A>C (p.Ser187Arg)	NKX3-2 (S187R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 749490	NM_001189.4(NKX3-2):c.555C>T (p.Gly185=)	NKX3-2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2279316	NM_001189.4(NKX3-2):c.550G>A (p.Gly184Arg)	NKX3-2 (G184R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1498198	NM_001189.4(NKX3-2):c.544G>A (p.Gly182Ser)	NKX3-2 (G182S)	Single nucleotide variant (missense variant)	Connective tissue disorder +2 more	GUncertain significance
Select item 1603218	NM_001189.4(NKX3-2):c.543C>T (p.Ala181=)	NKX3-2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1081059	NM_001189.4(NKX3-2):c.543C>A (p.Ala181=)	NKX3-2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2304394	NM_001189.4(NKX3-2):c.542C>T (p.Ala181Val)	NKX3-2 (A181V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1364991	NM_001189.4(NKX3-2):c.539G>A (p.Gly180Glu)	NKX3-2 (G180E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2233923	NM_001189.4(NKX3-2):c.521T>C (p.Val174Ala)	NKX3-2 (V174A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 498600	NM_001189.4(NKX3-2):c.520G>C (p.Val174Leu)	NKX3-2 (V174L)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2074542	NM_001189.4(NKX3-2):c.514G>A (p.Ala172Thr)	NKX3-2 (A172T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1356654	NM_001189.4(NKX3-2):c.512G>T (p.Gly171Val)	NKX3-2 (G171V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 522597	NM_001189.4(NKX3-2):c.507_508del (p.Gly171fs)	NKX3-2 (G171fs)	Deletion (frameshift variant)	Spondylo-megaepiphyseal-metaphyseal dysplasia	GPathogenic/Likely pathogenic
Select item 3200390	NM_001189.4(NKX3-2):c.499G>A (p.Val167Ile)	NKX3-2 (V167I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 726146	NM_001189.4(NKX3-2):c.493G>C (p.Asp165His)	NKX3-2 (D165H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 592982	NM_001189.4(NKX3-2):c.487G>A (p.Glu163Lys)	NKX3-2 (E163K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175184	NM_001189.4(NKX3-2):c.467-5del	NKX3-2	Deletion (intron variant)	not provided	GLikely benign
Select item 2175185	NM_001189.4(NKX3-2):c.467-6C>T	NKX3-2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2175186	NM_001189.4(NKX3-2):c.467-8G>A	NKX3-2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997086	NM_001189.4(NKX3-2):c.467-11G>T	NKX3-2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1706773	NM_001189.4(NKX3-2):c.466+62C>G	NKX3-2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 193202	NM_001189.4(NKX3-2):c.466+18G>A	NKX3-2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1660800	NM_001189.4(NKX3-2):c.466+17C>T	NKX3-2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1982508	NM_001189.4(NKX3-2):c.466+14T>C	NKX3-2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021161	NM_001189.4(NKX3-2):c.466+11G>T	NKX3-2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1024320	NM_001189.4(NKX3-2):c.466+6del	NKX3-2	Deletion (intron variant)	not provided	GUncertain significance
Select item 1051207	NM_001189.4(NKX3-2):c.466+4T>G	NKX3-2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2654673	NM_001189.4(NKX3-2):c.435G>C (p.Arg145=)	NKX3-2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 193200	NM_001189.4(NKX3-2):c.429G>A (p.Ala143=)	NKX3-2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 3200389	NM_001189.4(NKX3-2):c.428C>A (p.Ala143Glu)	NKX3-2 (A143E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2008144	NM_001189.4(NKX3-2):c.410A>G (p.Asp137Gly)	NKX3-2 (D137G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3200388	NM_001189.4(NKX3-2):c.401C>G (p.Ala134Gly)	NKX3-2 (A134G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263819	NM_001189.4(NKX3-2):c.398C>T (p.Ala133Val)	NKX3-2 (A133V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1428468	NM_001189.4(NKX3-2):c.383C>G (p.Pro128Arg)	NKX3-2 (P128R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1108079	NM_001189.4(NKX3-2):c.375C>T (p.Leu125=)	NKX3-2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2169934	NM_001189.4(NKX3-2):c.365_366delinsTT (p.Ser122Phe)	NKX3-2 (S122F)	Indel (missense variant)	not provided	GUncertain significance
Select item 3200387	NM_001189.4(NKX3-2):c.365C>T (p.Ser122Phe)	NKX3-2 (S122F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1369037	NM_001189.4(NKX3-2):c.355G>C (p.Ala119Pro)	NKX3-2 (A119P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 284675	NM_001189.4(NKX3-2):c.351C>G (p.Gly117=)	NKX3-2	Single nucleotide variant (synonymous variant)	Connective tissue disorder +2 more	GBenign

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