728294[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 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 335305	NM_152783.5(D2HGDH):c.-141C>T	D2HGDH, LOC129936031	Single nucleotide variant (5 prime UTR variant +1 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 895292	NM_152783.5(D2HGDH):c.-135C>A	D2HGDH, LOC129936031	Single nucleotide variant (5 prime UTR variant +1 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 335306	NM_152783.5(D2HGDH):c.-132C>T	D2HGDH, LOC129936031	Single nucleotide variant (5 prime UTR variant +1 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 895293	NM_152783.5(D2HGDH):c.-105G>A	D2HGDH, LOC129936031	Single nucleotide variant (5 prime UTR variant +1 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 895294	NM_152783.5(D2HGDH):c.-102G>A	D2HGDH, LOC129936031	Single nucleotide variant (5 prime UTR variant +1 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 335307	NM_152783.5(D2HGDH):c.-99A>G	D2HGDH, LOC129936031	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 335308	NM_152783.5(D2HGDH):c.-98T>G	D2HGDH, LOC129936031	Single nucleotide variant (5 prime UTR variant +1 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 896712	NM_152783.5(D2HGDH):c.-93+15C>T	D2HGDH, LOC129936031	Single nucleotide variant (intron variant)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 1273444	NM_152783.5(D2HGDH):c.-93+203A>C	D2HGDH, LOC129936031	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289699	NM_152783.5(D2HGDH):c.-92-197C>G	D2HGDH, LOC129936031	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263894	NM_152783.5(D2HGDH):c.-92-196C>G	D2HGDH, LOC129936031	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 218849	NM_152783.5(D2HGDH):c.-92-4C>G	D2HGDH, LOC129936031	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 631852	NM_152783.5(D2HGDH):c.-92-2A>T	D2HGDH, LOC129936031	Single nucleotide variant (splice acceptor variant +1 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 335309	NM_152783.5(D2HGDH):c.-91C>G	LOC129936031, D2HGDH	Single nucleotide variant (5 prime UTR variant +2 more)	D-2-hydroxyglutaric aciduria 1 +1 more	GBenign
Select item 896713	NM_152783.5(D2HGDH):c.-83C>T	D2HGDH, LOC129936031	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 896714	NM_152783.5(D2HGDH):c.-45C>T	D2HGDH, LOC129936031	Single nucleotide variant (5 prime UTR variant +2 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 335310	NM_152783.5(D2HGDH):c.-37C>T	D2HGDH, LOC129936031	Single nucleotide variant (5 prime UTR variant +2 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 3065857	NM_152783.5(D2HGDH):c.10dup (p.Arg4fs)	D2HGDH, LOC129936031 (R4fs)	Duplication (5 prime UTR variant +3 more)	D-2-hydroxyglutaric aciduria 1	GLikely pathogenic
Select item 743858	NM_152783.5(D2HGDH):c.6G>A (p.Leu2=)	D2HGDH, LOC129936031	Single nucleotide variant (5 prime UTR variant +3 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 2059149	NM_152783.5(D2HGDH):c.11G>T (p.Arg4Leu)	D2HGDH, LOC129936031 (R4L)	Single nucleotide variant (5 prime UTR variant +3 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 1425038	NM_152783.5(D2HGDH):c.29C>T (p.Pro10Leu)	D2HGDH, LOC129936031 (P10L)	Single nucleotide variant (5 prime UTR variant +3 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 1582688	NM_152783.5(D2HGDH):c.37C>T (p.Leu13=)	D2HGDH, LOC129936031	Single nucleotide variant (5 prime UTR variant +3 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 2721309	NM_152783.5(D2HGDH):c.39G>A (p.Leu13=)	D2HGDH, LOC129936031	Single nucleotide variant (5 prime UTR variant +3 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 2979076	NM_152783.5(D2HGDH):c.43C>A (p.Arg15=)	D2HGDH, LOC129936031	Single nucleotide variant (5 prime UTR variant +3 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 158420	NM_152783.5(D2HGDH):c.43C>G (p.Arg15Gly)	D2HGDH, LOC129936031 (R15G)	Single nucleotide variant (5 prime UTR variant +3 more)	D-2-hydroxyglutaric aciduria 1 +2 more	GBenign/Likely benign
Select item 3270748	NM_152783.5(D2HGDH):c.46G>T (p.Gly16Cys)	D2HGDH, LOC129936031 (G16C)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GLikely benign
Select item 1544679	NM_152783.5(D2HGDH):c.57A>G (p.Gly19=)	LOC129936031, D2HGDH	Single nucleotide variant (5 prime UTR variant +3 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 1805533	NM_152783.5(D2HGDH):c.71G>A (p.Trp24Ter)	D2HGDH, LOC129936031 (W24*)	Single nucleotide variant (5 prime UTR variant +3 more)	D-2-hydroxyglutaric aciduria 1	GPathogenic
Select item 715392	NM_152783.5(D2HGDH):c.76C>T (p.Arg26Trp)	D2HGDH (R26W)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided +2 more	GLikely benign
Select item 1940677	NM_152783.5(D2HGDH):c.79C>T (p.Pro27Ser)	D2HGDH (P27S)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1942999	NM_152783.5(D2HGDH):c.87C>T (p.Gly29=)	D2HGDH, LOC129936032	Single nucleotide variant (5 prime UTR variant +3 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 1549075	NM_152783.5(D2HGDH):c.93G>T (p.Leu31=)	D2HGDH, LOC129936032	Single nucleotide variant (5 prime UTR variant +3 more)	D-2-hydroxyglutaric aciduria 1	GBenign
Select item 2326327	NM_152783.5(D2HGDH):c.95C>T (p.Ala32Val)	D2HGDH, LOC129936032 (A32V)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GLikely benign
Select item 2329150	NM_152783.5(D2HGDH):c.97C>T (p.Arg33Cys)	D2HGDH, LOC129936032 (R33C)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 1375477	NM_152783.5(D2HGDH):c.103_104delinsAA (p.Gly35Asn)	D2HGDH, LOC129936032 (G35N)	Indel (intron variant +3 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 1418880	NM_152783.5(D2HGDH):c.107G>T (p.Cys36Phe)	D2HGDH, LOC129936032 (C36F)	Single nucleotide variant (5 prime UTR variant +3 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 1023523	NM_152783.5(D2HGDH):c.108C>G (p.Cys36Trp)	D2HGDH, LOC129936032 (C36W)	Single nucleotide variant (5 prime UTR variant +3 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 1562804	NM_152783.5(D2HGDH):c.114C>T (p.Ser38=)	D2HGDH, LOC129936032	Single nucleotide variant (5 prime UTR variant +3 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 2793620	NM_152783.5(D2HGDH):c.126C>G (p.Thr42=)	D2HGDH, LOC129936032	Single nucleotide variant (5 prime UTR variant +3 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 3079835	NM_152783.5(D2HGDH):c.128C>T (p.Pro43Leu)	D2HGDH, LOC129936032 (P43L)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 1647802	NM_152783.5(D2HGDH):c.138G>A (p.Pro46=)	D2HGDH, LOC129936032	Single nucleotide variant (5 prime UTR variant +3 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 748299	NM_152783.5(D2HGDH):c.156C>T (p.Tyr52=)	D2HGDH, LOC129936032	Single nucleotide variant (5 prime UTR variant +3 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 2982477	NM_152783.5(D2HGDH):c.164G>C (p.Arg55Pro)	D2HGDH, LOC129936032 (R55P)	Single nucleotide variant (5 prime UTR variant +3 more)	D-2-hydroxyglutaric aciduria 1	GUncertain significance
Select item 158414	NM_152783.5(D2HGDH):c.164G>A (p.Arg55Gln)	D2HGDH, LOC129936032 (R55Q)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified +2 more	GBenign/Likely benign
Select item 2160382	NM_152783.5(D2HGDH):c.177C>T (p.Phe59=)	D2HGDH, LOC129936032	Single nucleotide variant (5 prime UTR variant +3 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign
Select item 445555	NM_152783.5(D2HGDH):c.188C>G (p.Ser63Cys)	D2HGDH, LOC129936032 (S63C)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided +1 more	GUncertain significance
Select item 2600223	NM_152783.5(D2HGDH):c.194A>G (p.Gln65Arg)	D2HGDH (Q65R)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 1094054	NM_152783.5(D2HGDH):c.198C>T (p.Asp66=)	D2HGDH	Single nucleotide variant (5 prime UTR variant +3 more)	D-2-hydroxyglutaric aciduria 1 +1 more	GLikely benign
Select item 2230083	NM_152783.5(D2HGDH):c.199C>G (p.Leu67Val)	D2HGDH (L67V)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 434881	NM_152783.5(D2HGDH):c.202G>A (p.Ala68Thr)	D2HGDH (A68T)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2165185	NM_152783.5(D2HGDH):c.204C>T (p.Ala68=)	D2HGDH	Single nucleotide variant (5 prime UTR variant +3 more)	D-2-hydroxyglutaric aciduria 1	GLikely benign

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