"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "COMP"[gene - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1034755	NM_000095.3(COMP):c.1993C>T (p.Arg665Trp)	COMP (R665W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2649591	NM_000095.3(COMP):c.1718-4C>T	COMP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2498768	NM_000095.3(COMP):c.1527_1529del (p.Asp509_Ala510delinsGlu)	COMP	Deletion (inframe_indel)	not provided	GLikely pathogenic
Select item 449473	NM_000095.3(COMP):c.1502G>A (p.Gly501Asp)	COMP (G501D)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 9193	NM_000095.3(COMP):c.1405GAC[6] (p.Asp473dup)	COMP	Microsatellite (inframe_insertion)	Multiple epiphyseal dysplasia type 1 +1 more	GPathogenic/Likely pathogenic
Select item 1879428	NM_000095.3(COMP):c.1417G>A (p.Asp473Asn)	COMP (D473N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2649592	NM_000095.3(COMP):c.1124T>C (p.Ile375Thr)	COMP (I375T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 808505	NM_000095.3(COMP):c.984C>G (p.Cys328Trp)	COMP (C328W)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 870878	NM_000095.3(COMP):c.934T>C (p.Cys312Arg)	COMP (C312R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 870879	NM_000095.3(COMP):c.831_851del (p.Asp277_Pro283del)	COMP	Deletion (inframe_deletion)	not provided	GPathogenic
Select item 1298752	NM_000095.3(COMP):c.805G>A (p.Asp269Asn)	COMP (D269N)	Single nucleotide variant (missense variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1701361	NM_000095.3(COMP):c.781_782inv (p.Gly261Pro)	COMP (G261P)	Inversion (missense variant)	not provided	GUncertain significance
Select item 808506	NM_000095.3(COMP):c.390+6C>T	COMP	Single nucleotide variant (intron variant)	not provided	GUncertain significance