C1837549[trait identifier] AND "GeneReviews"[submitter] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 221271	NM_001009994.3(RIPPLY2):c.238A>T (p.Arg80Ter)	RIPPLY2-CYB5R4, RIPPLY2 (R80* +2 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Spondylocostal dysostosis 6, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 221272	NM_001009994.3(RIPPLY2):c.240-4T>G	RIPPLY2, RIPPLY2-CYB5R4	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 6999	NM_001040167.2(LFNG):c.564C>A (p.Phe188Leu)	LFNG (F188L +2 more)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 3, autosomal recessive	GPathogenic
Select item 38906	NM_001039958.2(MESP2):c.197C>G (p.Ala66Gly)	MESP2 (A66G)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 38907	NM_001039958.2(MESP2):c.241G>T (p.Gly81Ter)	LOC130057891, MESP2 (G81*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 38908	NM_001039958.2(MESP2):c.271A>G (p.Lys91Glu)	LOC130057891, MESP2 (K91E)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 2, autosomal recessive	Gnot provided
Select item 5184	NM_001039958.2(MESP2):c.307G>T (p.Glu103Ter)	LOC130057891, MESP2 (E103*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 5185	NM_001039958.2(MESP2):c.373C>G (p.Leu125Val)	LOC130057891, MESP2 (L125V)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 2, autosomal recessive	GPathogenic
Select item 38909	NM_001039958.2(MESP2):c.385A>T (p.Ile129Phe)	LOC130057891, MESP2 (I129F)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 2, autosomal recessive	Gnot provided
Select item 5183	NM_001039958.2(MESP2):c.500_503dup (p.Gly169fs)	MESP2 (G169fs)	Duplication (frameshift variant)	Spondylocostal dysostosis 2, autosomal recessive	GPathogenic
Select item 38910	NM_001039958.1(MESP2):c.535GGGCAGGGGCAA[2_4]	MESP2	Microsatellite	Spondylocostal dysostosis 2, autosomal recessive	GBenign
Select item 38911	NM_001039958.2(MESP2):c.670T>C (p.Ser224Pro)	MESP2 (S224P)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 2, autosomal recessive	GBenign
Select item 5186	NM_001039958.2(MESP2):c.700G>T (p.Glu234Ter)	MESP2 (E234*)	Single nucleotide variant (nonsense)	Spondylocostal dysostosis 2, autosomal recessive	GPathogenic
Select item 100633	NM_004608.4(TBX6):c.1311A>T (p.Ter437Cys)	TBX6	Single nucleotide variant (stop lost)	Spondylocostal dysostosis 5	GPathogenic
Select item 30696	NM_001165967.2(HES7):c.73C>T (p.Arg25Trp)	HES7 (R25W)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 4, autosomal recessive	GPathogenic