2588[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059466, LOC130059467 +1738 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	ACD, ACSF3 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC130059153, LOC130059154 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	HSBP1, HSD17B2 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	ACSF3, ADAD2 +1031 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC400553, LOC654780 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	ACSF3, ADAD2 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	LINC01081, LINC01082 +781 more	Copy number gain	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	ACSF3, ADAD2 +719 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	ACSF3, ADAD2 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	ACSF3, ADAD2 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	ACSF3, ADAD2 +670 more	Copy number gain	See cases	GPathogenic
Select item 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	LINC00917, LINC01081 +566 more	Copy number gain	See cases	GPathogenic
Select item 148918	GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3	LOC130059799, LOC130059800 +531 more	Copy number gain	See cases	GLikely pathogenic
Select item 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
Select item 150862	GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3	ACSF3, ANKRD11 +420 more	Copy number gain	See cases	GPathogenic
Select item 155557	GRCh38/hg38 16q24.1-24.3(chr16:86950106-89335814)x1	ACSF3, ANKRD11 +210 more	Copy number loss	See cases	GPathogenic
Select item 2503467	Single allele	LOC121587566, LOC121587567 +218 more	Deletion	KBG syndrome	GPathogenic
Select item 59520	GRCh38/hg38 16q24.2-24.3(chr16:87306529-89269079)x1	ACSF3, ANKRD11 +196 more	Copy number loss	See cases	GPathogenic
Select item 149103	GRCh38/hg38 16q24.2-24.3(chr16:87848216-90096995)x3	ACSF3, ANKRD11 +268 more	Copy number gain	See cases	GLikely pathogenic
Select item 58651	GRCh38/hg38 16q24.2-24.3(chr16:87853401-90081985)x3	ACSF3, ANKRD11 +267 more	Copy number gain	See cases	GPathogenic
Select item 59521	GRCh38/hg38 16q24.2-24.3(chr16:88159660-89506042)x1	ACSF3, ANKRD11 +160 more	Copy number loss	See cases	GPathogenic
Select item 2503468	Single allele	LOC130059772, LOC130059773 +138 more	Deletion	KBG syndrome	GPathogenic
Select item 2503469	Single allele	ACSF3, ANKRD11 +116 more	Deletion	KBG syndrome	GPathogenic
Select item 59538	GRCh38/hg38 16q24.2-24.3(chr16:88640116-89530475)x1	LOC130059760, LOC130059761 +129 more	Copy number loss	See cases	GPathogenic
Select item 59539	GRCh38/hg38 16q24.2-24.3(chr16:88662702-89454555)x1	ACSF3, ANKRD11 +113 more	Copy number loss	See cases	GPathogenic
Select item 1048365	NC_000016.10:g.88770428_88832724del	APRT, CDT1 +11 more	Deletion	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 1048364	NC_000016.10:g.88779266_88827672del	APRT, CDT1 +11 more	Deletion	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 321155	NM_000485.3(APRT):c.*182A>G	APRT, GALNS	Single nucleotide variant (3 prime UTR variant)	Morquio syndrome +1 more	GConflicting classifications of pathogenicity
Select item 321156	NM_000485.3(APRT):c.*178A>G	APRT, GALNS	Single nucleotide variant (3 prime UTR variant)	Morquio syndrome +2 more	GBenign
Select item 321161	NM_000485.3(APRT):c.*47T>C	APRT, GALNS	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GLikely benign
Select item 321162	NM_000485.3(APRT):c.*3A>G	APRT, GALNS	Single nucleotide variant (3 prime UTR variant)	Morquio syndrome +2 more	GBenign/Likely benign
Select item 1048367	NC_000016.10:g.(88810557_88811549)_(88841972_88842705)del	APRT, GALNS +2 more	Deletion	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 321166	NM_000485.3(APRT):c.97C>T (p.Leu33=)	APRT, GALNS	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 321167	NM_000485.3(APRT):c.90G>T (p.Ser30=)	APRT, GALNS	Single nucleotide variant (synonymous variant)	Morquio syndrome +2 more	GBenign/Likely benign
Select item 369134	NM_000485.2(APRT):c.-50C>A	GALNS, APRT +1 more	Single nucleotide variant	Morquio syndrome +2 more	GBenign/Likely benign
Select item 1048368	NC_000016.10:g.(?_88813734)_(88841972_88842705)del	GALNS, LOC126862447	Deletion	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 1048366	NC_000016.10:g.(?_88813734)_(88856758_?)del	GALNS, LOC126862447 +4 more	Deletion	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 321168	NM_000512.5(GALNS):c.*701C>G	APRT, GALNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-IV-A +2 more	GBenign
Select item 885663	NM_000512.5(GALNS):c.*656T>C	GALNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 321169	NM_000512.5(GALNS):c.*652A>G	APRT, GALNS	Single nucleotide variant (3 prime UTR variant)	Morquio syndrome +2 more	GBenign
Select item 885664	NM_000512.5(GALNS):c.*639T>G	GALNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 321170	NM_000512.5(GALNS):c.*611A>G	APRT, GALNS	Single nucleotide variant (3 prime UTR variant)	Morquio syndrome +2 more	GBenign
Select item 321171	NM_000512.5(GALNS):c.*610G>T	GALNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 321172	NM_000512.5(GALNS):c.*573A>G	GALNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 321173	NM_000512.5(GALNS):c.*546C>T	GALNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 321174	NM_000512.5(GALNS):c.*524G>C	APRT, GALNS	Single nucleotide variant (3 prime UTR variant)	Morquio syndrome +2 more	GBenign/Likely benign
Select item 886677	NM_000512.5(GALNS):c.*523G>A	GALNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 886678	NM_000512.5(GALNS):c.*520C>A	GALNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 321175	NM_000512.5(GALNS):c.*503T>G	GALNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 887934	NM_000512.5(GALNS):c.*387T>G	GALNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 321176	NM_000512.5(GALNS):c.*367T>C	APRT, GALNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-IV-A +3 more	GBenign
Select item 321177	NM_000512.5(GALNS):c.*296A>G	APRT, GALNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-IV-A +3 more	GBenign/Likely benign
Select item 321178	NM_000512.5(GALNS):c.*287T>C	GALNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-IV-A +1 more	GUncertain significance
Select item 887935	NM_000512.5(GALNS):c.*270T>C	GALNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 321179	NM_000512.5(GALNS):c.*263T>C	GALNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 887936	NM_000512.5(GALNS):c.*261T>G	GALNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 321180	NM_000512.5(GALNS):c.*236C>T	GALNS	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 321181	NM_000512.5(GALNS):c.*224C>G	APRT, GALNS	Single nucleotide variant (3 prime UTR variant)	Morquio syndrome +3 more	GBenign/Likely benign
Select item 884785	NM_000512.5(GALNS):c.*212C>A	APRT, GALNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-IV-A +1 more	GUncertain significance
Select item 321182	NM_000512.5(GALNS):c.*207G>T	GALNS	Single nucleotide variant (3 prime UTR variant)	Morquio syndrome	GUncertain significance
Select item 884786	NM_000512.5(GALNS):c.*197C>T	GALNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 884787	NM_000512.5(GALNS):c.*186C>G	GALNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 321183	NM_000512.5(GALNS):c.*145C>T	GALNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 884788	NM_000512.5(GALNS):c.*144T>C	GALNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 884789	NM_000512.5(GALNS):c.*140C>A	GALNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 321184	NM_000512.5(GALNS):c.*123G>C	GALNS	Single nucleotide variant (3 prime UTR variant)	Morquio syndrome +1 more	GUncertain significance
Select item 321185	NM_000512.5(GALNS):c.*95T>A	GALNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 885726	NM_000512.5(GALNS):c.*86C>T	GALNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 885727	NM_000512.5(GALNS):c.*70T>C	GALNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 256330	NM_000512.5(GALNS):c.*36G>A	GALNS, APRT	Single nucleotide variant (3 prime UTR variant)	not provided +4 more	GBenign
Select item 885728	NM_000512.5(GALNS):c.*29A>C	GALNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 528326	NC_000016.10:g.(?_88814419)_(88856897_?)del	GALNS, LOC126862447 +4 more	Deletion	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 321186	NM_000512.5(GALNS):c.*20C>G	GALNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 321187	NM_000512.5(GALNS):c.*3C>G	GALNS	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1048363	NM_000512.5(GALNS):c.1568A>G (p.Ter523Trp)	GALNS	Single nucleotide variant (stop lost)	Mucopolysaccharidosis, MPS-IV-A	GConflicting classifications of pathogenicity
Select item 1048362	NM_000512.5(GALNS):c.1567T>C (p.Ter523Gln)	GALNS	Single nucleotide variant (stop lost)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048361	NM_000512.5(GALNS):c.1567T>G (p.Ter523Glu)	GALNS	Single nucleotide variant (stop lost)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic/Likely pathogenic
Select item 2911644	NM_000512.5(GALNS):c.1566C>T (p.His522=)	GALNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2955359	NM_000512.5(GALNS):c.1563C>T (p.Ser521=)	GALNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2751543	NM_000512.5(GALNS):c.1563C>A (p.Ser521=)	GALNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 1048360	NM_000512.5(GALNS):c.1560G>A (p.Trp520Ter)	GALNS (W335* +2 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 93171	NM_000512.5(GALNS):c.1559G>A (p.Trp520Ter)	GALNS (W520* +2 more)	Single nucleotide variant (nonsense)	Morquio syndrome +2 more	GPathogenic/Likely pathogenic
Select item 93170	NM_000512.5(GALNS):c.1558T>C (p.Trp520Arg)	GALNS (W520R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2799034	NM_000512.5(GALNS):c.1557C>G (p.Leu519=)	GALNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 659924	NM_000512.5(GALNS):c.1555C>T (p.Leu519Phe)	GALNS (L334F +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1155609	NM_000512.5(GALNS):c.1551G>A (p.Lys517=)	GALNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 886730	NM_000512.5(GALNS):c.1540A>G (p.Ile514Val)	GALNS (I329V +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 2870604	NM_000512.5(GALNS):c.1536A>G (p.Glu512=)	GALNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2151335	NM_000512.5(GALNS):c.1531C>T (p.Pro511Ser)	GALNS (P326S +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 2045732	NM_000512.5(GALNS):c.1531C>G (p.Pro511Ala)	GALNS (P511A +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 2777124	NM_000512.5(GALNS):c.1527A>G (p.Thr509=)	GALNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2548021	NM_000512.5(GALNS):c.1526C>T (p.Thr509Ile)	GALNS (T324I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1048359	NM_000512.5(GALNS):c.1523T>C (p.Leu508Pro)	GALNS (L323P +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 2834444	NM_000512.5(GALNS):c.1522C>T (p.Leu508=)	GALNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 93169	NM_000512.5(GALNS):c.1520G>T (p.Cys507Phe)	GALNS (C507F +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1048345	NM_000512.5(GALNS):c.1519T>C (p.Cys507Arg)	GALNS (C322R +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GConflicting classifications of pathogenicity
Select item 2837133	NM_000512.5(GALNS):c.1515del (p.Lys506fs)	GALNS (K321fs +2 more)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 194338	NM_000512.5(GALNS):c.1513G>A (p.Gly505Arg)	GALNS (G505R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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