3061[HGNC] - 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 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 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 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 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 153228	GRCh38/hg38 2q37.3(chr2:239507342-241841232)x1	LOC129936021, LOC129936022 +144 more	Copy number loss	See cases	GPathogenic
Select item 155356	GRCh38/hg38 2q37.3(chr2:239642965-241841232)x1	LOC110121227, LOC110599582 +143 more	Copy number loss	See cases	GLikely pathogenic
Select item 147508	GRCh38/hg38 2q37.3(chr2:240067206-242126245)x1	AGXT, ANKMY1 +145 more	Copy number loss	See cases	GPathogenic
Select item 58910	GRCh38/hg38 2q37.3(chr2:240067206-242086301)x1	FAM240C, FARP2 +143 more	Copy number loss	See cases	GPathogenic
Select item 146578	GRCh38/hg38 2q37.3(chr2:240171137-242065208)x1	AGXT, ANKMY1 +138 more	Copy number loss	See cases	GPathogenic
Select item 149568	GRCh38/hg38 2q37.3(chr2:240187901-242126245)x1	AGXT, ANKMY1 +140 more	Copy number loss	See cases	GLikely pathogenic
Select item 151964	GRCh38/hg38 2q37.3(chr2:240228628-242126245)x1	AGXT, ANKMY1 +140 more	Copy number loss	See cases	GUncertain significance
Select item 58911	GRCh38/hg38 2q37.3(chr2:240444819-242086301)x1	AGXT, ANKMY1 +131 more	Copy number loss	See cases	GPathogenic
Select item 146232	GRCh38/hg38 2q37.3(chr2:240507151-242065208)x1	AGXT, ANKMY1 +127 more	Copy number loss	See cases	GLikely pathogenic
Select item 152539	GRCh38/hg38 2q37.3(chr2:240671231-242092126)x1	LOC132088835, LOC132088836 +96 more	Copy number loss	See cases	GLikely pathogenic
Select item 58914	GRCh38/hg38 2q37.3(chr2:241249295-242086301)x1	ATG4B, BOK +56 more	Copy number loss	See cases	GPathogenic
Select item 144757	GRCh38/hg38 2q37.3(chr2:241481406-242126245)x1	ATG4B, BOK +44 more	Copy number loss	See cases	GUncertain significance
Select item 144361	GRCh38/hg38 2q37.3(chr2:241522479-242126245)x3	ATG4B, BOK +39 more	Copy number gain	See cases	GUncertain significance
Select item 153126	GRCh38/hg38 2q37.3(chr2:241565848-242110155)x1	ATG4B, BOK +32 more	Copy number loss	See cases	GUncertain significance
Select item 57280	GRCh38/hg38 2q37.3(chr2:241582713-242065208)x1	ATG4B, D2HGDH +29 more	Copy number loss	See cases	GUncertain significance
Select item 2272613	NM_012145.4(DTYMK):c.617C>T (p.Pro206Leu)	DTYMK (P163L +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3086153	NM_012145.4(DTYMK):c.593C>T (p.Ala198Val)	DTYMK (A237V +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2333559	NM_012145.4(DTYMK):c.592G>A (p.Ala198Thr)	DTYMK (A198T +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2239407	NM_012145.4(DTYMK):c.542C>T (p.Ser181Phe)	DTYMK (S157F +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2652117	NM_012145.4(DTYMK):c.513G>A (p.Thr171=)	DTYMK	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2235855	NM_012145.4(DTYMK):c.475C>T (p.Arg159Trp)	DTYMK (R140W +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2614918	NM_012145.4(DTYMK):c.433G>A (p.Ala145Thr)	DTYMK (A145T +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3086152	NM_012145.4(DTYMK):c.427C>T (p.Arg143Trp)	DTYMK (R124W +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1686904	NM_012145.4(DTYMK):c.382G>A (p.Asp128Asn)	DTYMK (D128N +3 more)	Single nucleotide variant (missense variant +2 more)	Neurodegeneration, childhood-onset, with progressive microcephaly	GPathogenic
Select item 2329017	NM_012145.4(DTYMK):c.364G>A (p.Val122Met)	DTYMK (V103M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1686902	NM_012145.4(DTYMK):c.287_320del (p.Asp96fs)	DTYMK (D135fs +1 more)	Deletion (frameshift variant +2 more)	Neurodegeneration, childhood-onset, with progressive microcephaly	GPathogenic
Select item 3086151	NM_012145.4(DTYMK):c.302C>G (p.Ser101Cys)	DTYMK (S101C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1686903	NM_012145.4(DTYMK):c.295G>A (p.Ala99Thr)	DTYMK (A99T +1 more)	Single nucleotide variant (missense variant +2 more)	Neurodegeneration, childhood-onset, with progressive microcephaly	GPathogenic
Select item 1686905	NM_012145.4(DTYMK):c.242C>T (p.Pro81Leu)	DTYMK (P81L +1 more)	Single nucleotide variant (missense variant +2 more)	Neurodegeneration, childhood-onset, with progressive microcephaly	GPathogenic
Select item 3065236	NM_012145.4(DTYMK):c.239+1045_239+1050del	DTYMK	Deletion (inframe_deletion +1 more)	Neurodegeneration, childhood-onset, with progressive microcephaly	GUncertain significance
Select item 3086150	NM_012145.4(DTYMK):c.183T>G (p.Ser61Arg)	DTYMK (S61R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086149	NM_012145.4(DTYMK):c.145A>C (p.Ile49Leu)	DTYMK (I49L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 730030	NM_012145.4(DTYMK):c.103C>T (p.His35Tyr)	DTYMK, LOC129936029 (H35Y)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2216107	NM_012145.4(DTYMK):c.86C>G (p.Ala29Gly)	DTYMK, LOC129936029 (A29G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592942	NM_012145.4(DTYMK):c.85G>T (p.Ala29Ser)	DTYMK, LOC129936029 (A29S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238549	NM_012145.4(DTYMK):c.52G>A (p.Gly18Arg)	DTYMK (G18R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2567925	NM_012145.4(DTYMK):c.37G>A (p.Gly13Ser)	DTYMK (G13S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378846	NM_012145.4(DTYMK):c.11G>T (p.Arg4Leu)	DTYMK (R4L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248268	NM_012145.4(DTYMK):c.8C>T (p.Ala3Val)	DTYMK (A3V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467037	NM_012145.4(DTYMK):c.5C>T (p.Ala2Val)	DTYMK (A2V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3247415	NC_000002.11:g.(?_237481970)_(242801596_?)del	ACKR3, AGXT +55 more	Deletion	Bethlem myopathy 1A	GPathogenic
Select item 3242308	GRCh37/hg19 2q37.2-37.3(chr2:236478472-243048854)x1	ACKR3, AGAP1 +60 more	Copy number loss	not provided	GPathogenic
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 3148872	GRCh37/hg19 2q37.3(chr2:239671606-242782258)x1	AGXT, ANKMY1 +35 more	Copy number loss	See cases	GPathogenic
Select item 3148868	GRCh37/hg19 2q37.1-37.3(chr2:235267074-242782258)x1	ACKR3, AGAP1 +60 more	Copy number loss	See cases	GPathogenic
Select item 3062657	GRCh37/hg19 2q37.3(chr2:242539055-242783384)x3	ATG4B, D2HGDH +5 more	Copy number gain	not specified	GUncertain significance
Select item 3062615	GRCh37/hg19 2q37.2-37.3(chr2:236057846-242783384)x1	ACKR3, AGAP1 +58 more	Copy number loss	not specified	GPathogenic
Select item 3062606	GRCh37/hg19 2q37.2-37.3(chr2:236726690-242783384)x1	ACKR3, AGAP1 +58 more	Copy number loss	not specified	GPathogenic
Select item 2685891	GRCh37/hg19 2q37.3(chr2:242589861-242783384)x3	ATG4B, D2HGDH +4 more	Copy number gain	not provided	GUncertain significance
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2684986	GRCh37/hg19 2q37.3(chr2:238460671-242783384)x1	AQP12A, AGXT +51 more	Copy number loss	not provided	GPathogenic
Select item 2671587	Single allele	CHRND, LRRFIP1 +123 more	Duplication	not provided	GPathogenic
Select item 2425085	NC_000002.11:g.(?_236403331)_(242801596_?)del	ANO7, ACKR3 +59 more	Deletion	Bethlem myopathy 1A	GPathogenic
Select item 1808622	GRCh37/hg19 2q37.2-37.3(chr2:236878509-242783384)x1	ACKR3, AGAP1 +59 more	Copy number loss	not provided	GPathogenic
Select item 1808495	GRCh37/hg19 2q37.3(chr2:242379032-242783384)x1	ATG4B, BOK +8 more	Copy number loss	not provided	GUncertain significance
Select item 1807819	GRCh37/hg19 2q37.2-37.3(chr2:235942616-242783384)x1	ACKR3, AGAP1 +60 more	Copy number loss	not provided	GPathogenic
Select item 1807573	GRCh37/hg19 2q37.3(chr2:242533423-242783384)x3	ATG4B, D2HGDH +5 more	Copy number gain	not provided	GUncertain significance
Select item 1711534	GRCh37/hg19 2q37.3(chr2:239229304-243199373)x1	AQP12A, AGXT +39 more	Copy number loss	not provided	GPathogenic
Select item 1703652	GRCh37/hg19 2q37.2-37.3(chr2:236472789-242783384)	HES6, ILKAP +58 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 1703651	GRCh37/hg19 2q37.1-37.3(chr2:233227837-242783384)	CHRND, CHRNG +93 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1411455	NC_000002.11:g.(?_238233417)_(242801596_?)del	AGXT, ANKMY1 +53 more	Deletion	D-2-hydroxyglutaric aciduria 1	GPathogenic
Select item 1411130	NC_000002.11:g.(?_238233417)_(242800990_?)dup	ANKMY1, ATG4B +53 more	Duplication	D-2-hydroxyglutaric aciduria 1 +3 more	GUncertain significance
Select item 1371785	NC_000002.11:g.(?_236403331)_(242801596_?)dup	ACKR3, AGAP1 +59 more	Duplication	not provided	GUncertain significance
Select item 1340707	GRCh37/hg19 2q37.3(chr2:239436367-242783384)x1	AGXT, ANKMY1 +36 more	Copy number loss	not provided	GPathogenic
Select item 1340528	GRCh37/hg19 2q37.3(chr2:237499041-242783384)x1	PASK, RAB17 +53 more	Copy number loss	not provided	GPathogenic

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