ClinVar for MedGen (Select 347149) - ClinVar

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Items: 23

VariationLocation		Gene(s)	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 14789231.	NM_001395891.1(CLASP1):c.196-620C>T GRCh37: Chr2:122288521 GRCh38: Chr2:121530945	CLASP1, RNU4ATAC	not provided, Osteodysplastic primordial dwarfism, type 1, Lowry-Wood syndrome, Roifman syndrome	Uncertain significance (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14749992.	NM_001395891.1(CLASP1):c.196-601A>C GRCh37: Chr2:122288502 GRCh38: Chr2:121530926	CLASP1, RNU4ATAC	not provided	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 11439193.	NM_001395891.1(CLASP1):c.196-679dup GRCh37: Chr2:122288579-122288580 GRCh38: Chr2:121531003-121531004	CLASP1, RNU4ATAC	not provided, Roifman syndrome, Lowry-Wood syndrome, Osteodysplastic primordial dwarfism, type 1	Likely benign (Oct 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9778694.	NM_001395891.1(CLASP1):c.196-583A>C GRCh37: Chr2:122288484 GRCh38: Chr2:121530908	RNU4ATAC, CLASP1	Osteodysplastic primordial dwarfism, type 1	Likely pathogenic	no assertion criteria provided
Select item 9778565.	NM_001395891.1(CLASP1):c.196-600C>A GRCh37: Chr2:122288501 GRCh38: Chr2:121530925	CLASP1, RNU4ATAC	Osteodysplastic primordial dwarfism, type 1	Likely pathogenic	no assertion criteria provided
Select item 6920416.	NM_001395891.1(CLASP1):c.196-607G>A GRCh37: Chr2:122288508 GRCh38: Chr2:121530932	RNU4ATAC, CLASP1	not provided, Lowry-Wood syndrome	Conflicting interpretations of pathogenicity (Oct 1, 2022)	criteria provided, conflicting interpretations
Select item 6314977.	NG_029832.1(RNU4ATAC):g.[5030G>A];[5040C>T]		Osteodysplastic primordial dwarfism, type 1	Likely pathogenic (Nov 14, 2018)	criteria provided, single submitter
Select item 6232208.	NM_023343.1:c.55G>A	RNU4ATAC	Osteodysplastic primordial dwarfism, type 1	Likely pathogenic (Dec 6, 2017)	criteria provided, single submitter
Select item 5992829.	NM_001395891.1(CLASP1):c.196-594G>A GRCh37: Chr2:122288495 GRCh38: Chr2:121530919	CLASP1, RNU4ATAC	not provided	Pathogenic (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21808710.	NM_001395891.1(CLASP1):c.196-672A>G GRCh37: Chr2:122288573 GRCh38: Chr2:121530997	RNU4ATAC, CLASP1	not provided	Conflicting interpretations of pathogenicity (Aug 31, 2022)	criteria provided, conflicting interpretations
Select item 21808511.	NM_001395891.1(CLASP1):c.196-602C>T GRCh37: Chr2:122288503 GRCh38: Chr2:121530927	CLASP1, RNU4ATAC	RNU4ATAC-related spliceosomopathies, Roifman syndrome, not provided, Roifman syndrome, Lowry-Wood syndrome, Osteodysplastic primordial dwarfism, type 1	Likely pathogenic (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21808412.	NM_001395891.1(CLASP1):c.196-591C>T GRCh37: Chr2:122288492 GRCh38: Chr2:121530916	CLASP1, RNU4ATAC	Spondyloepiphyseal dysplasia congenita, not provided, Roifman syndrome, Roifman syndrome, Lowry-Wood syndrome, Osteodysplastic primordial dwarfism, type 1	Conflicting interpretations of pathogenicity (Nov 22, 2022)	criteria provided, conflicting interpretations
Select item 21808313.	NM_001395891.1(CLASP1):c.196-567G>A GRCh37: Chr2:122288468 GRCh38: Chr2:121530892	CLASP1, RNU4ATAC	Roifman syndrome, not provided, Roifman syndrome, Lowry-Wood syndrome, Osteodysplastic primordial dwarfism, type 1	Conflicting interpretations of pathogenicity (Jun 1, 2023)	criteria provided, conflicting interpretations
Select item 21808214.	NM_001395891.1(CLASP1):c.196-570C>T GRCh37: Chr2:122288471 GRCh38: Chr2:121530895	CLASP1, RNU4ATAC	not provided, Roifman syndrome, Lowry-Wood syndrome, Osteodysplastic primordial dwarfism, type 1, Roifman syndrome, Intellectual disability, Short stature	Pathogenic/Likely pathogenic (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3944315.	NM_001395891.1(CLASP1):c.196-678C>T GRCh37: Chr2:122288579 GRCh38: Chr2:121531003	CLASP1, RNU4ATAC	Roifman syndrome, not provided	Pathogenic/Likely pathogenic (Jul 19, 2023)	criteria provided, multiple submitters, no conflicts
Select item 3944216.	NM_001395891.1(CLASP1):c.196-620C>G GRCh37: Chr2:122288521 GRCh38: Chr2:121530945	RNU4ATAC, CLASP1	not provided	Uncertain significance (Oct 24, 2021)	criteria provided, single submitter
Select item 3018417.	NM_001395891.1(CLASP1):c.196-604C>T GRCh37: Chr2:122288505 GRCh38: Chr2:121530929	CLASP1, RNU4ATAC	Roifman syndrome, not provided	Conflicting interpretations of pathogenicity (Aug 9, 2022)	criteria provided, conflicting interpretations
Select item 3018318.	NM_001395891.1(CLASP1):c.196-607G>C GRCh37: Chr2:122288508 GRCh38: Chr2:121530932	RNU4ATAC, CLASP1	not provided	Likely pathogenic (May 25, 2022)	criteria provided, single submitter
Select item 3018219.	NM_001395891.1(CLASP1):c.196-604C>G GRCh37: Chr2:122288505 GRCh38: Chr2:121530929	RNU4ATAC, CLASP1	Osteodysplastic primordial dwarfism, type 1	Pathogenic (Apr 8, 2011)	no assertion criteria provided
Select item 3018120.	NM_001395891.1(CLASP1):c.196-665C>T GRCh37: Chr2:122288566 GRCh38: Chr2:121530990	CLASP1, RNU4ATAC	not provided	Pathogenic (Sep 19, 2022)	criteria provided, single submitter
Select item 3018021.	NR_023343.1:n.30G>A GRCh37: Chr2:122288485 GRCh38: Chr2:121530909	CLASP1, RNU4ATAC	not provided, Osteodysplastic primordial dwarfism, type 1	Likely pathogenic (Jul 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3017922.	NM_001395891.1(CLASP1):c.196-609C>T GRCh37: Chr2:122288510 GRCh38: Chr2:121530934	CLASP1, RNU4ATAC	not provided, Osteodysplastic primordial dwarfism, type 1, Short stature, Intellectual disability, Lowry-Wood syndrome, Roifman syndrome, Osteodysplastic primordial dwarfism, type 1	Pathogenic (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3017823.	NM_001395891.1(CLASP1):c.196-605C>T GRCh37: Chr2:122288506 GRCh38: Chr2:121530930	CLASP1, RNU4ATAC	Roifman syndrome, not provided, Osteodysplastic primordial dwarfism, type 1, Roifman syndrome, Osteodysplastic primordial dwarfism, type 1, Lowry-Wood syndrome	Pathogenic/Likely pathogenic (May 9, 2023)	criteria provided, multiple submitters, no conflicts

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Items: 23