ClinVar for Gene (Select 579) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 210

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3246741	NC_000004.11:g.(?_2357152)_(15176083_?)del	ABLIM2, ACOX3 +83 more	Deletion	not provided	GPathogenic
Select item 3246732	NC_000004.11:g.(?_13371500)_(13546038_?)dup	NKX3-2, RAB28	Duplication	not provided	GUncertain significance
Select item 3200392	NM_001189.4(NKX3-2):c.91G>C (p.Glu31Gln)	NKX3-2 (E31Q)	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 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 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 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 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 3200386	NM_001189.4(NKX3-2):c.316C>G (p.Arg106Gly)	NKX3-2 (R106G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3200385	NM_001189.4(NKX3-2):c.196G>T (p.Ala66Ser)	NKX3-2 (A66S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3200384	NM_001189.4(NKX3-2):c.152G>A (p.Cys51Tyr)	NKX3-2 (C51Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148858	GRCh37/hg19 4p15.33(chr4:12662979-15000955)x1	BOD1L1, NKX3-2 +1 more	Copy number loss	See cases	GUncertain significance
Select item 3062783	GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	ABLIM2, ACOX3 +140 more	Copy number loss	not specified	GPathogenic
Select item 3062781	GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1	ABLIM2, ACOX3 +120 more	Copy number loss	not specified	GPathogenic
Select item 3062759	GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	ABLIM2, ACOX3 +143 more	Copy number loss	not specified	GPathogenic
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
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 3023759	NM_001189.4(NKX3-2):c.288G>T (p.Ala96=)	NKX3-2	Single nucleotide variant (synonymous 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 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 2999344	NM_001189.4(NKX3-2):c.867C>T (p.Asp289=)	NKX3-2	Single nucleotide variant (synonymous 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 2984399	NM_001189.4(NKX3-2):c.105G>A (p.Ala35=)	NKX3-2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975775	NM_001189.4(NKX3-2):c.120G>A (p.Ala40=)	NKX3-2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970037	NM_001189.4(NKX3-2):c.180G>C (p.Ala60=)	NKX3-2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2959989	NM_001189.4(NKX3-2):c.906C>A (p.Pro302=)	NKX3-2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875057	NM_001189.4(NKX3-2):c.183C>G (p.Gly61=)	NKX3-2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2854529	NM_001189.4(NKX3-2):c.59del (p.Lys20fs)	NKX3-2 (K20fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2792080	NM_001189.4(NKX3-2):c.126G>C (p.Ser42=)	NKX3-2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2765309	NM_001189.4(NKX3-2):c.184G>T (p.Ala62Ser)	NKX3-2 (A62S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685959	GRCh37/hg19 4p15.33(chr4:13402895-13623842)x3	BOD1L1, NKX3-2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2685107	GRCh37/hg19 4p15.33-15.2(chr4:12238766-23083496)x1	ADGRA3, BOD1L1 +26 more	Copy number loss	not provided	GLikely pathogenic
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 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 2583026	GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1	ADRA2C, AFAP1 +132 more	Copy number loss	not provided	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 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2574695	GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	RNF212, RNF4 +162 more	Copy number gain	4p16.3 microduplication syndrome	GPathogenic
Select item 2536838	NM_001189.4(NKX3-2):c.158G>T (p.Arg53Leu)	NKX3-2 (R53L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534340	NM_001189.4(NKX3-2):c.82G>C (p.Ala28Pro)	NKX3-2 (A28P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2534339	NM_001189.4(NKX3-2):c.31T>C (p.Ser11Pro)	NKX3-2 (S11P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2524313	NM_001189.4(NKX3-2):c.177C>G (p.Asp59Glu)	NKX3-2 (D59E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519686	NM_001189.4(NKX3-2):c.77G>T (p.Gly26Val)	NKX3-2 (G26V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2481209	NM_001189.4(NKX3-2):c.332G>A (p.Arg111Gln)	NKX3-2 (R111Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2425047	NC_000004.11:g.(?_13371500)_(13546038_?)del	NKX3-2, RAB28	Deletion	not provided	GPathogenic
Select item 2416465	NM_001189.4(NKX3-2):c.96G>A (p.Gly32=)	NKX3-2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2293251	NM_001189.4(NKX3-2):c.100C>T (p.Pro34Ser)	NKX3-2 (P34S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 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 2175186	NM_001189.4(NKX3-2):c.467-8G>A	NKX3-2	Single nucleotide variant (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 2175184	NM_001189.4(NKX3-2):c.467-5del	NKX3-2	Deletion (intron variant)	not provided	GLikely benign
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 2169934	NM_001189.4(NKX3-2):c.365_366delinsTT (p.Ser122Phe)	NKX3-2 (S122F)	Indel (missense variant)	not provided	GUncertain significance
Select item 2113404	NM_001189.4(NKX3-2):c.182G>A (p.Gly61Asp)	NKX3-2 (G61D)	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 2090782	NM_001189.4(NKX3-2):c.267A>C (p.Glu89Asp)	NKX3-2 (E89D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2061946	NM_001189.4(NKX3-2):c.336G>A (p.Gly112=)	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 2033199	NM_001189.4(NKX3-2):c.162C>A (p.Leu54=)	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 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 1991729	NM_001189.4(NKX3-2):c.159G>T (p.Arg53=)	NKX3-2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1983530	NM_001189.4(NKX3-2):c.113G>A (p.Gly38Asp)	NKX3-2 (G38D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1982508	NM_001189.4(NKX3-2):c.466+14T>C	NKX3-2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1982169	NM_001189.4(NKX3-2):c.317G>C (p.Arg106Pro)	NKX3-2 (R106P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1967536	NM_001189.4(NKX3-2):c.324G>A (p.Ala108=)	NKX3-2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1967364	NM_001189.4(NKX3-2):c.265G>A (p.Glu89Lys)	NKX3-2 (E89K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1953865	NM_001189.4(NKX3-2):c.30G>T (p.Thr10=)	NKX3-2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1707444	GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1	ABLIM2, ACOX3 +143 more	Copy number loss	See cases	GPathogenic
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 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 1702471	NM_001189.4(NKX3-2):c.94_100dup (p.Pro34fs)	NKX3-2 (P34fs)	Duplication (frameshift variant)	Connective tissue disorder	GLikely pathogenic
Select item 1660800	NM_001189.4(NKX3-2):c.466+17C>T	NKX3-2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1649389	NM_001189.4(NKX3-2):c.348C>A (p.Ala116=)	NKX3-2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1647808	NM_001189.4(NKX3-2):c.255G>C (p.Ala85=)	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 1634025	NM_001189.4(NKX3-2):c.720C>T (p.Ala240=)	NKX3-2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1602443	NM_001189.4(NKX3-2):c.843C>T (p.Ala281=)	NKX3-2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1596718	NM_001189.4(NKX3-2):c.246_247delinsCA (p.Gly82_Arg83=)	NKX3-2	Indel (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 1528272	NM_001189.4(NKX3-2):c.33C>T (p.Ser11=)	NKX3-2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1524780	NM_001189.4(NKX3-2):c.261C>G (p.Ser87Arg)	NKX3-2 (S87R)	Single nucleotide variant (missense variant)	Connective tissue disorder +2 more	GUncertain significance
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

<< First< Prev

Page of 3