ClinVar for MedGen (Select 460626) - ClinVar - NCBI

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Items: 11

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 16846621.	NC_000016.10:g.21936825_22429665del GRCh38: Chr16:21936825-22429665	LOC130058641, SDR42E2, TRL-AAG2-4, TRL-TAG3-1, UQCRC2, VWA3A, LOC130058642, LOC130058643, LOC132090373, MOSMO, PDZD9, POLR3E, LOC130058644, LOC130058645, LOC130058646, CDR2, CDR2-DT, EEF2K, LOC105371129, LOC111562378, LOC121587534, LOC125146427, LOC125146428, LOC126862313, LOC130058628, LOC130058629, LOC130058630, LOC130058631, LOC130058632, LOC130058633, LOC130058634, LOC130058635, LOC130058636, LOC130058637, LOC130058638, LOC130058639, LOC130058640		Chromosome 16p12.1 deletion syndrome, 520kb	Pathogenic (Feb 8, 2022)	criteria provided, single submitter
Select item 13302022.	GRCh37/hg19 16p12.2(chr16:21747532-22824584)x1 GRCh37: Chr16:21747532-22824584	CDR2, EEF2K, MOSMO, NPIPB4, NPIPB5, OTOA, PDZD9, POLR3E, SDR42E2, UQCRC2, VWA3A		Chromosome 16p12.1 deletion syndrome, 520kb	Pathogenic (Nov 23, 2021)	criteria provided, single submitter
Select item 13302003.	GRCh37/hg19 16p12.2(chr16:21869250-22524572)x1 GRCh37: Chr16:21869250-22524572	CDR2, EEF2K, MOSMO, NPIPB4, PDZD9, POLR3E, SDR42E2, UQCRC2, VWA3A		Chromosome 16p12.1 deletion syndrome, 520kb	Pathogenic (Nov 18, 2021)	criteria provided, single submitter
Select item 13301864.	GRCh37/hg19 16p12.2(chr16:21781158-22825913)x1 GRCh37: Chr16:21781158-22825913	CDR2, EEF2K, HS3ST2, MOSMO, NPIPB4, NPIPB5, PDZD9, POLR3E, SDR42E2, UQCRC2, VWA3A		Chromosome 16p12.1 deletion syndrome, 520kb	Pathogenic (Sep 30, 2021)	criteria provided, single submitter
Select item 13301685.	GRCh37/hg19 16p12.2(chr16:21964695-22376385)x1 GRCh37: Chr16:21964695-22376385	CDR2, EEF2K, MOSMO, PDZD9, POLR3E, SDR42E2, UQCRC2, VWA3A		Chromosome 16p12.1 deletion syndrome, 520kb	Pathogenic (Oct 15, 2020)	criteria provided, single submitter
Select item 6257546.	GRCh37/hg19 16p12.2(chr16:21973828-22361172) GRCh37: Chr16:21973828-22361172	CDR2, EEF2K, MOSMO, PDZD9, POLR3E, SDR42E2, UQCRC2, VWA3A		Chromosome 16p12.1 deletion syndrome, 520kb	Likely pathogenic (Nov 1, 2018)	criteria provided, single submitter
Select item 6256867.	GRCh37/hg19 16p12.2(chr16:21964083-22386845) GRCh37: Chr16:21964083-22386845	CDR2, EEF2K, MOSMO, PDZD9, POLR3E, SDR42E2, UQCRC2, VWA3A		Chromosome 16p12.1 deletion syndrome, 520kb	Pathogenic (Nov 1, 2018)	criteria provided, single submitter
Select item 6256778.	GRCh37/hg19 16p12.2(chr16:21973828-22361172) GRCh37: Chr16:21973828-22361172	CDR2, EEF2K, UQCRC2, VWA3A, PDZD9, POLR3E, MOSMO, SDR42E2		Chromosome 16p12.1 deletion syndrome, 520kb	Likely pathogenic (Nov 1, 2018)	criteria provided, single submitter
Select item 6255999.	GRCh37/hg19 16p12.2(chr16:21976691-22386881) GRCh37: Chr16:21976691-22386881	POLR3E, SDR42E2, UQCRC2, VWA3A, CDR2, EEF2K, MOSMO, PDZD9		Chromosome 16p12.1 deletion syndrome, 520kb	Pathogenic (Nov 1, 2018)	criteria provided, single submitter
Select item 62557710.	GRCh37/hg19 16p12.2(chr16:21943463-22702769) GRCh37: Chr16:21943463-22702769	CDR2, EEF2K, MOSMO, NPIPB5, PDZD9, POLR3E, SDR42E2, UQCRC2, VWA3A		Chromosome 16p12.1 deletion syndrome, 520kb	Likely pathogenic (Nov 1, 2018)	criteria provided, single submitter
Select item 62557611.	GRCh37/hg19 16p12.2(chr16:21884192-22288219) GRCh37: Chr16:21884192-22288219	SDR42E2, EEF2K, MOSMO, PDZD9, UQCRC2, VWA3A		Chromosome 16p12.1 deletion syndrome, 520kb	Pathogenic (Nov 1, 2018)	criteria provided, single submitter