9759[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	LOC129935966, LOC129935967 +630 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC132088828, LOC132088829 +576 more	Copy number gain	See cases	GPathogenic
Select item 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	LOC129935965, LOC129935966 +455 more	Copy number loss	See cases	GPathogenic
Select item 34724	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	ACKR3, AGAP1 +455 more	Copy number loss	See cases	GPathogenic
Select item 58851	GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1	ACKR3, AGAP1 +361 more	Copy number loss	See cases	GPathogenic
Select item 58852	GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1	RAB17-DT, RAMP1 +359 more	Copy number loss	See cases	GPathogenic
Select item 148337	GRCh38/hg38 2q37.1-37.3(chr2:234058757-239443690)x1	GBX2, GBX2-AS1 +180 more	Copy number loss	See cases	GPathogenic
Select item 154186	GRCh38/hg38 2q37.1-37.3(chr2:234159653-241841232)x1	LOC132090688, LOC132090689 +325 more	Copy number loss	See cases	GPathogenic
Select item 58879	GRCh38/hg38 2q37.1-37.3(chr2:234172536-242086301)x1	LOC126806577, LOC126806578 +334 more	Copy number loss	See cases	GPathogenic
Select item 57457	GRCh38/hg38 2q37.1-37.3(chr2:234345842-242126245)x1	HDAC4, HDAC4-AS1 +334 more	Copy number loss	See cases	GPathogenic
Select item 58880	GRCh38/hg38 2q37.1-37.3(chr2:234668159-242126245)x1	PRLH, PRR21 +325 more	Copy number loss	See cases	GPathogenic
Select item 147967	GRCh38/hg38 2q37.2-37.3(chr2:234835780-242065208)x1	ACKR3, AGAP1 +318 more	Copy number loss	See cases	GPathogenic
Select item 147844	GRCh38/hg38 2q37.2-37.3(chr2:235028429-242066108)x1	ACKR3, AGAP1 +314 more	Copy number loss	See cases	GPathogenic
Select item 59176	GRCh38/hg38 2q37.2-37.3(chr2:235268768-242126245)x3	ACKR3, AGAP1 +311 more	Copy number gain	See cases	GPathogenic
Select item 58882	GRCh38/hg38 2q37.2-37.3(chr2:235268768-242065208)x1	ACKR3, AGAP1 +309 more	Copy number loss	See cases	GPathogenic
Select item 59177	GRCh38/hg38 2q37.2-37.3(chr2:235563664-242086301)x3	ACKR3, AGAP1 +303 more	Copy number gain	See cases	GPathogenic
Select item 147465	GRCh38/hg38 2q37.2-37.3(chr2:235603604-241771051)x1	ACKR3, AGAP1 +288 more	Copy number loss	See cases	GPathogenic
Select item 58883	GRCh38/hg38 2q37.2-37.3(chr2:235741079-242032456)x1	ACKR3, AGAP1 +298 more	Copy number loss	See cases	GPathogenic
Select item 148764	GRCh38/hg38 2q37.2-37.3(chr2:235757098-239443690)x1	ACKR3, AGAP1 +144 more	Copy number loss	See cases	GPathogenic
Select item 153183	GRCh38/hg38 2q37.2-37.3(chr2:235846916-241841232)x1	ACKR3, AGAP1 +288 more	Copy number loss	See cases	GPathogenic
Select item 151026	GRCh38/hg38 2q37.3(chr2:236413722-242126251)x1	LOC122889015, LOC122889016 +287 more	Copy number loss	See cases	GPathogenic
Select item 57420	GRCh38/hg38 2q37.3(chr2:236555233-242126245)x1	ACKR3, AGXT +276 more	Copy number loss	See cases	GPathogenic
Select item 1684635	Single allele	LOC122889013, LOC122889014 +274 more	Deletion	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 150710	GRCh38/hg38 2q37.3(chr2:236775762-242126251)x1	AGXT, ANKMY1 +274 more	Copy number loss	See cases	GPathogenic
Select item 146261	GRCh38/hg38 2q37.3(chr2:236966763-242065208)x1	AGXT, ANKMY1 +271 more	Copy number loss	See cases	GPathogenic
Select item 146602	GRCh38/hg38 2q37.3(chr2:237034476-242065208)x1	AGXT, ANKMY1 +270 more	Copy number loss	See cases	GPathogenic
Select item 147368	GRCh38/hg38 2q37.3(chr2:237232204-242065208)x1	AGXT, ANKMY1 +264 more	Copy number loss	See cases	GPathogenic
Select item 58885	GRCh38/hg38 2q37.3(chr2:237526184-241996090)x1	LOC129935970, LOC129935971 +251 more	Copy number loss	See cases	GPathogenic
Select item 57432	GRCh38/hg38 2q37.3(chr2:237643996-242126245)x1	COPS9, CROCC2 +250 more	Copy number loss	See cases	GPathogenic
Select item 59178	GRCh38/hg38 2q37.3(chr2:237813997-240410487)x3	ASB1, COPS9 +102 more	Copy number gain	See cases	GPathogenic
Select item 151032	GRCh38/hg38 2q37.3(chr2:237902870-242126251)x1	AGXT, ANKMY1 +235 more	Copy number loss	See cases	GPathogenic
Select item 144177	GRCh38/hg38 2q37.3(chr2:238756369-241771051)x3	AGXT, ANKMY1 +171 more	Copy number gain	See cases	GPathogenic
Select item 149058	GRCh38/hg38 2q37.3(chr2:238833519-242126245)x1	AGXT, ANKMY1 +185 more	Copy number loss	See cases	GPathogenic
Select item 151409	GRCh38/hg38 2q37.3(chr2:239045268-239678582)x1	HDAC4, HDAC4-AS1 +19 more	Copy number loss	See cases	GPathogenic
Select item 204217	NC_000002.12:g.(?_239048168)_(240879119_?)del	PRR21, RNPEPL1 +84 more	Deletion	Primary hyperoxaluria, type I	GPathogenic
Select item 150736	GRCh38/hg38 2q37.3(chr2:239049058-239189273)x3	HDAC4, MIR4440 +1 more	Copy number gain	See cases	GLikely benign
Select item 1215921	NM_001378414.1(HDAC4):c.*179G>A	HDAC4	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1214616	NM_001378414.1(HDAC4):c.*138C>T	HDAC4	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1209358	NM_001378414.1(HDAC4):c.*76C>T	HDAC4	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 3353017	NM_001378414.1(HDAC4):c.3261G>A (p.Pro1087=)	HDAC4	Single nucleotide variant (synonymous variant)	HDAC4-related disorder	GLikely benign
Select item 792297	NM_001378414.1(HDAC4):c.3261G>T (p.Pro1087=)	HDAC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3364686	NM_001378414.1(HDAC4):c.3248_3249delinsA (p.Met1083fs)	HDAC4 (M1078fs +1 more)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 741550	NM_001378414.1(HDAC4):c.3240G>A (p.Glu1080=)	HDAC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1208308	NM_001378414.1(HDAC4):c.3231-99G>A	HDAC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2887533	NM_001378414.1(HDAC4):c.3230+18C>T	HDAC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 741180	NM_001378414.1(HDAC4):c.3230+7A>G	HDAC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2226651	NM_001378414.1(HDAC4):c.3223G>A (p.Glu1075Lys)	HDAC4 (E1075K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 374654	NM_001378414.1(HDAC4):c.3220G>A (p.Ala1074Thr)	HDAC4 (A1069T +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 730766	NM_001378414.1(HDAC4):c.3219C>T (p.Pro1073=)	HDAC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1679741	NM_001378414.1(HDAC4):c.3211G>A (p.Val1071Met)	HDAC4 (V1066M +1 more)	Single nucleotide variant (missense variant)	Syndromic intellectual disability	GUncertain significance
Select item 2223544	NM_001378414.1(HDAC4):c.3197C>T (p.Ser1066Leu)	HDAC4 (S1061L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 795937	NM_001378414.1(HDAC4):c.3195C>T (p.Ala1065=)	HDAC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3283690	NM_001378414.1(HDAC4):c.3192G>A (p.Met1064Ile)	HDAC4 (M1064I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 782240	NM_001378414.1(HDAC4):c.3186C>T (p.Thr1062=)	HDAC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 707442	NM_001378414.1(HDAC4):c.3180G>A (p.Thr1060=)	HDAC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 195974	NM_001378414.1(HDAC4):c.3174C>T (p.Ala1058=)	HDAC4	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 524026	NM_001378414.1(HDAC4):c.3135_3166del (p.Ser1046fs)	HDAC4 (S1041fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1302364	NM_001378414.1(HDAC4):c.3151_3152del (p.Gln1051fs)	HDAC4 (Q1046fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3104586	NM_001378414.1(HDAC4):c.3145G>A (p.Glu1049Lys)	HDAC4 (E1049K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2652065	NM_001378414.1(HDAC4):c.3133C>T (p.Arg1045Cys)	HDAC4 (R1040C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 453013	NM_001378414.1(HDAC4):c.3124_3125insT (p.Thr1042fs)	HDAC4 (T1037fs +1 more)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 3242173	NM_001378414.1(HDAC4):c.3107T>A (p.Leu1036Gln)	HDAC4 (L1031Q +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with central hypotonia and dysmorphic facies	GUncertain significance
Select item 813561	NM_001378414.1(HDAC4):c.3094T>C (p.Tyr1032His)	HDAC4 (Y1027H +1 more)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 1283855	NM_001378414.1(HDAC4):c.3089-193A>G	HDAC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258215	NM_001378414.1(HDAC4):c.3089-268G>A	HDAC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227075	NM_001378414.1(HDAC4):c.3088+220T>C	HDAC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210890	NM_001378414.1(HDAC4):c.3088+109G>A	HDAC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2549038	NM_001378414.1(HDAC4):c.3082A>T (p.Ile1028Phe)	HDAC4 (I1023F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260352	NM_001378414.1(HDAC4):c.3062C>T (p.Ser1021Phe)	HDAC4 (S1016F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 975707	NM_001378414.1(HDAC4):c.3058C>T (p.Arg1020Cys)	HDAC4 (R1015C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 702721	NM_001378414.1(HDAC4):c.3046G>A (p.Ala1016Thr)	HDAC4 (A1011T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3104585	NM_001378414.1(HDAC4):c.3025G>A (p.Val1009Ile)	HDAC4 (V1004I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3343609	NM_001378414.1(HDAC4):c.3008A>G (p.Asp1003Gly)	HDAC4 (D1003G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2882881	NM_001378414.1(HDAC4):c.3004-8T>C	HDAC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 772440	NM_001378414.1(HDAC4):c.3004-9T>C	HDAC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2797531	NM_001378414.1(HDAC4):c.3004-17T>C	HDAC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188127	NM_001378414.1(HDAC4):c.3004-68G>A	HDAC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230533	NM_001378414.1(HDAC4):c.3004-69C>T	HDAC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242637	NM_001378414.1(HDAC4):c.3004-169_3004-168insATATA	HDAC4	Microsatellite (intron variant)	not provided	GBenign
Select item 1198494	NM_001378414.1(HDAC4):c.3004-214T>C	HDAC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2632371	NM_001378414.1(HDAC4):c.2992C>A (p.Leu998Met)	HDAC4 (L993M +1 more)	Single nucleotide variant (missense variant)	HDAC4-related disorder	GUncertain significance
Select item 2652066	NM_001378414.1(HDAC4):c.2970G>A (p.Ser990=)	HDAC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2515150	NM_001378414.1(HDAC4):c.2965G>A (p.Ala989Thr)	HDAC4 (A984T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2724267	NM_001378414.1(HDAC4):c.2964C>T (p.Asp988=)	HDAC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 706501	NM_001378414.1(HDAC4):c.2961C>T (p.Cys987=)	HDAC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3026182	NM_001378414.1(HDAC4):c.2952C>T (p.Thr984=)	HDAC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3369374	NM_001378414.1(HDAC4):c.2946C>A (p.Asp982Glu)	HDAC4 (D977E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3041141	NM_001378414.1(HDAC4):c.2931C>T (p.Leu977=)	HDAC4	Single nucleotide variant (synonymous variant)	HDAC4-related disorder	GLikely benign
Select item 1315199	NM_001378414.1(HDAC4):c.2929C>T (p.Leu977Phe)	HDAC4 (L972F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 721248	NM_001378414.1(HDAC4):c.2921T>C (p.Val974Ala)	HDAC4 (V969A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2121636	NM_001378414.1(HDAC4):c.2916G>T (p.Arg972=)	HDAC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3251029	NM_001378414.1(HDAC4):c.2911G>T (p.Gly971Cys)	HDAC4 (G966C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 698145	NM_001378414.1(HDAC4):c.2910C>T (p.Gly970=)	HDAC4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3031926	NM_001378414.1(HDAC4):c.2900G>C (p.Gly967Ala)	HDAC4 (G962A +1 more)	Single nucleotide variant (missense variant)	HDAC4-related disorder	GUncertain significance
Select item 1697045	NM_001378414.1(HDAC4):c.2893C>G (p.Leu965Val)	HDAC4 (L960V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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