ClinVar for Gene (Select 3166) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3284526	NM_018942.3(HMX1):c.862G>A (p.Glu288Lys)	HMX1 (E288K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3284525	NM_018942.3(HMX1):c.470C>G (p.Pro157Arg)	HMX1 (P157R)	Single nucleotide variant (missense variant +1 more)	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 3106345	NM_018942.3(HMX1):c.850G>A (p.Val284Met)	HMX1 (V284M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3106344	NM_018942.3(HMX1):c.704G>A (p.Gly235Asp)	HMX1 (G235D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 3049799	NM_018942.3(HMX1):c.*2C>T	HMX1	Single nucleotide variant (3 prime UTR variant +1 more)	HMX1-related disorder	GLikely benign
Select item 3042383	NC_000004.12:g.8846143C>T	HMX1	Single nucleotide variant (3 prime UTR variant)	HMX1-related disorder	GLikely benign
Select item 3024630	GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1	MSANTD1, MSX1 +117 more	Copy number loss	not provided	GPathogenic
Select item 2989707	NM_018942.3(HMX1):c.807C>G (p.Ala269=)	HMX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2987675	NM_018942.3(HMX1):c.108C>G (p.Thr36=)	HMX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969822	NM_018942.3(HMX1):c.246G>C (p.Arg82=)	HMX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2822099	NM_018942.3(HMX1):c.690C>T (p.Ser230=)	HMX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2812907	NM_018942.3(HMX1):c.822G>C (p.Pro274=)	HMX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2808201	NM_018942.3(HMX1):c.597C>T (p.Gly199=)	HMX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2806621	NM_018942.3(HMX1):c.678C>G (p.Arg226=)	HMX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2796552	NM_018942.3(HMX1):c.981G>C (p.Pro327=)	HMX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2780853	NM_018942.3(HMX1):c.255G>T (p.Ala85=)	HMX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2779811	NM_018942.3(HMX1):c.459A>G (p.Arg153=)	HMX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2752450	NM_018942.3(HMX1):c.591C>A (p.Gly197=)	HMX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2713773	NM_018942.3(HMX1):c.24C>T (p.Pro8=)	HMX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2697355	NM_018942.3(HMX1):c.954C>G (p.Leu318=)	HMX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2628024	NM_018942.3(HMX1):c.691_692dup (p.Glu232fs)	HMX1 (E232fs)	Microsatellite (frameshift variant +1 more)	Isolated microphthalmia 6	GPathogenic
Select item 2621124	NM_018942.3(HMX1):c.452G>C (p.Trp151Ser)	HMX1 (W151S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2583026	GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1	USP17L24, USP17L25 +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 2543889	NM_018942.3(HMX1):c.524G>T (p.Gly175Val)	HMX1 (G175V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2533974	NM_018942.3(HMX1):c.1021C>T (p.Arg341Trp)	HMX1 (R341W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2491283	NM_018942.3(HMX1):c.616A>G (p.Thr206Ala)	HMX1 (T206A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2469636	NM_018942.3(HMX1):c.113G>T (p.Gly38Val)	HMX1 (G38V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2432490	NM_018942.3(HMX1):c.3G>T (p.Met1Ile)	HMX1 (M1I)	Single nucleotide variant (missense variant +1 more)	Oculoauricular syndrome	GUncertain significance
Select item 2426500	NC_000004.11:g.(?_8869419)_(8873340_?)dup	HMX1	Duplication	not provided	GUncertain significance
Select item 2426319	NC_000004.11:g.(?_8869419)_(10118290_?)del	DEFB131A, DRD5 +22 more	Deletion	not provided	GUncertain significance
Select item 2422101	NM_018942.3(HMX1):c.18G>A (p.Thr6=)	HMX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2415641	NM_018942.3(HMX1):c.947C>T (p.Pro316Leu)	HMX1 (P316L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2393477	NM_018942.3(HMX1):c.734C>T (p.Thr245Met)	HMX1 (T245M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2382833	NM_018942.3(HMX1):c.365G>A (p.Gly122Asp)	HMX1 (G122D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328339	NM_018942.3(HMX1):c.986C>T (p.Ala329Val)	HMX1 (A329V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2267195	NM_018942.3(HMX1):c.872C>T (p.Pro291Leu)	HMX1 (P291L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2267194	NM_018942.3(HMX1):c.523G>T (p.Gly175Cys)	HMX1 (G175C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2251486	NM_018942.3(HMX1):c.451T>G (p.Trp151Gly)	HMX1 (W151G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2226708	NM_018942.3(HMX1):c.866G>C (p.Ser289Thr)	HMX1 (S289T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2226707	NM_018942.3(HMX1):c.865A>C (p.Ser289Arg)	HMX1 (S289R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2169889	NM_018942.3(HMX1):c.241G>A (p.Ala81Thr)	HMX1 (A81T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2162811	NM_018942.3(HMX1):c.59T>A (p.Leu20His)	HMX1 (L20H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2139049	NM_018942.3(HMX1):c.509G>A (p.Arg170His)	HMX1 (R170H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2135511	NM_018942.3(HMX1):c.911T>C (p.Phe304Ser)	HMX1 (F304S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2126034	NM_018942.3(HMX1):c.405G>T (p.Arg135=)	HMX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2123862	NM_018942.3(HMX1):c.28C>G (p.Arg10Gly)	HMX1 (R10G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2121577	NM_018942.3(HMX1):c.562G>T (p.Ala188Ser)	HMX1 (A188S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2120732	NM_018942.3(HMX1):c.637A>T (p.Ser213Cys)	HMX1 (S213C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2120302	NM_018942.3(HMX1):c.242C>T (p.Ala81Val)	HMX1 (A81V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2107753	NM_018942.3(HMX1):c.867C>T (p.Ser289=)	HMX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2106057	NM_018942.3(HMX1):c.706C>T (p.Leu236=)	HMX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2104927	NM_018942.3(HMX1):c.73C>A (p.Leu25Met)	HMX1 (L25M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2104651	NM_018942.3(HMX1):c.567_585del (p.Gly190fs)	HMX1 (G190fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2103316	NM_018942.3(HMX1):c.238G>A (p.Glu80Lys)	HMX1 (E80K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2102630	NM_018942.3(HMX1):c.420G>C (p.Thr140=)	HMX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2099993	NM_018942.3(HMX1):c.920C>T (p.Ala307Val)	HMX1 (A307V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2097682	NM_018942.3(HMX1):c.285T>C (p.Gly95=)	HMX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2094976	NM_018942.3(HMX1):c.667G>C (p.Asp223His)	HMX1 (D223H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2089804	NM_018942.3(HMX1):c.779G>A (p.Arg260Gln)	HMX1 (R260Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2088525	NM_018942.3(HMX1):c.232G>A (p.Gly78Ser)	HMX1 (G78S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2087418	NM_018942.3(HMX1):c.311C>T (p.Pro104Leu)	HMX1 (P104L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2083247	NM_018942.3(HMX1):c.1012C>T (p.Pro338Ser)	HMX1 (P338S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2079606	NM_018942.3(HMX1):c.936_937dup (p.Pro313fs)	HMX1 (P313fs)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2074600	NM_018942.3(HMX1):c.528G>C (p.Thr176=)	HMX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2074597	NM_018942.3(HMX1):c.530A>C (p.Glu177Ala)	HMX1 (E177A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2073668	NM_018942.3(HMX1):c.981G>A (p.Pro327=)	HMX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2070143	NM_018942.3(HMX1):c.609G>A (p.Lys203=)	HMX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2050788	NM_018942.3(HMX1):c.64G>A (p.Glu22Lys)	HMX1 (E22K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2050316	NM_018942.3(HMX1):c.386G>T (p.Ser129Ile)	HMX1 (S129I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2047283	NM_018942.3(HMX1):c.651G>C (p.Gln217His)	HMX1 (Q217H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2032170	NM_018942.3(HMX1):c.564G>A (p.Ala188=)	HMX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2026158	NM_018942.3(HMX1):c.200G>A (p.Arg67Gln)	HMX1 (R67Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2025536	NM_018942.3(HMX1):c.395-13C>T	HMX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2024845	NM_018942.3(HMX1):c.525C>T (p.Gly175=)	HMX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2023819	NM_018942.3(HMX1):c.735G>T (p.Thr245=)	HMX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2020024	NM_018942.3(HMX1):c.477G>A (p.Ala159=)	HMX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2018084	NM_018942.3(HMX1):c.12G>A (p.Glu4=)	HMX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2012544	NM_018942.3(HMX1):c.965G>A (p.Gly322Glu)	HMX1 (G322E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2011028	NM_018942.3(HMX1):c.507G>C (p.Ala169=)	HMX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2009325	NM_018942.3(HMX1):c.602G>T (p.Gly201Val)	HMX1 (G201V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2008028	NM_018942.3(HMX1):c.977A>T (p.Tyr326Phe)	HMX1 (Y326F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2001654	NM_018942.3(HMX1):c.683T>C (p.Leu228Pro)	HMX1 (L228P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1999695	NM_018942.3(HMX1):c.730G>C (p.Glu244Gln)	HMX1 (E244Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1994734	NM_018942.3(HMX1):c.299C>G (p.Pro100Arg)	HMX1 (P100R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1993710	NM_018942.3(HMX1):c.516G>A (p.Pro172=)	HMX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1989881	NM_018942.3(HMX1):c.163G>A (p.Glu55Lys)	HMX1 (E55K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1975971	NM_018942.3(HMX1):c.340G>C (p.Ala114Pro)	HMX1 (A114P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1975186	NM_018942.3(HMX1):c.699C>T (p.Arg233=)	HMX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1970279	NM_018942.3(HMX1):c.304C>T (p.Pro102Ser)	HMX1 (P102S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1967998	NM_018942.3(HMX1):c.928G>A (p.Ala310Thr)	HMX1 (A310T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1967755	NM_018942.3(HMX1):c.818C>T (p.Pro273Leu)	HMX1 (P273L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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