C1846059[trait identifier] AND "OMIM"[submitter] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 218086	NM_001395891.1(CLASP1):c.196-562G>A	CLASP1, RNU4ATAC	Single nucleotide variant (non-coding transcript variant +1 more)	Microcephaly +8 more	GConflicting classifications of pathogenicity
Select item 218083	NM_001395891.1(CLASP1):c.196-567G>A	CLASP1, RNU4ATAC	Single nucleotide variant (non-coding transcript variant +1 more)	Roifman syndrome +4 more	GConflicting classifications of pathogenicity
Select item 218082	NM_001395891.1(CLASP1):c.196-570C>T	CLASP1, RNU4ATAC	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 218084	NM_001395891.1(CLASP1):c.196-591C>T	CLASP1, RNU4ATAC	Single nucleotide variant (non-coding transcript variant +1 more)	Roifman syndrome +5 more	GConflicting classifications of pathogenicity
Select item 636959	NM_001395891.1(CLASP1):c.196-600C>T	CLASP1, RNU4ATAC	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 218085	NM_001395891.1(CLASP1):c.196-602C>T	CLASP1, RNU4ATAC	Single nucleotide variant (non-coding transcript variant +1 more)	Roifman syndrome +4 more	GConflicting classifications of pathogenicity
Select item 30184	NM_001395891.1(CLASP1):c.196-604C>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant +1 more)	Roifman syndrome +1 more	GConflicting classifications of pathogenicity
Select item 30178	NM_001395891.1(CLASP1):c.196-605C>T	CLASP1, RNU4ATAC	Single nucleotide variant (non-coding transcript variant +1 more)	Osteodysplastic primordial dwarfism, type 1 +4 more	GPathogenic/Likely pathogenic
Select item 30179	NM_001395891.1(CLASP1):c.196-609C>T	RNU4ATAC, CLASP1	Single nucleotide variant (non-coding transcript variant +1 more)	Lowry-Wood syndrome +5 more	GPathogenic
Select item 218087	NM_001395891.1(CLASP1):c.196-672A>G	RNU4ATAC, CLASP1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 39443	NM_001395891.1(CLASP1):c.196-678C>T	CLASP1, RNU4ATAC	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic