C1837549[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 554878	NM_001039958.2(MESP2):c.11C>A (p.Ser4Ter)	MESP2 (S4*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 552595	NM_001039958.2(MESP2):c.48G>A (p.Trp16Ter)	MESP2 (W16*)	Single nucleotide variant (nonsense)	Spondylocostal dysostosis 2, autosomal recessive	GLikely pathogenic
Select item 555826	NM_001039958.2(MESP2):c.116C>A (p.Ser39Ter)	MESP2 (S39*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 549989	NM_001039958.2(MESP2):c.192_203dup (p.Glu65_Ala68dup)	MESP2	Duplication (inframe_insertion)	not provided +1 more	GUncertain significance
Select item 551110	NM_001039958.2(MESP2):c.229G>T (p.Gly77Ter)	MESP2 (G77*)	Single nucleotide variant (nonsense)	Spondylocostal dysostosis 2, autosomal recessive +1 more	GPathogenic/Likely pathogenic
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 557590	NM_001039958.2(MESP2):c.249_256dup (p.Ala86fs)	LOC130057891, MESP2 (A86fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 557334	NM_001039958.2(MESP2):c.250C>T (p.Gln84Ter)	LOC130057891, MESP2 (Q84*)	Single nucleotide variant (nonsense)	Spondylocostal dysostosis 2, autosomal recessive	GLikely pathogenic
Select item 555370	NM_001039958.2(MESP2):c.258_261del (p.Glu88fs)	LOC130057891, MESP2 (E88fs)	Deletion (frameshift variant)	Spondylocostal dysostosis 2, autosomal recessive +1 more	GPathogenic/Likely pathogenic
Select item 557032	NM_001039958.2(MESP2):c.343_344dup (p.Gly116fs)	LOC130057891, MESP2 (G116fs)	Duplication (frameshift variant)	Spondylocostal dysostosis 2, autosomal recessive	GLikely pathogenic
Select item 551651	NM_001039958.2(MESP2):c.349C>T (p.Gln117Ter)	LOC130057891, MESP2 (Q117*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 553672	NM_001039958.2(MESP2):c.546_557del (p.180_181QG[11])	MESP2	Deletion (inframe_deletion)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 557578	NM_001039958.2(MESP2):c.547_556del (p.Gly183Argfs)	MESP2 (G183fs)	Deletion (frameshift variant)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 552837	NM_001039958.2(MESP2):c.558_593del (p.180_181QG[7])	MESP2	Deletion (inframe_deletion)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 557494	NM_001039958.2(MESP2):c.585_608del (p.180_181QG[9])	MESP2	Deletion (inframe_deletion)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 556996	NM_001039958.2(MESP2):c.586C>T (p.Gln196Ter)	MESP2 (Q196*)	Single nucleotide variant (nonsense)	Spondylocostal dysostosis 2, autosomal recessive	GLikely pathogenic
Select item 554295	NM_001039958.2(MESP2):c.600_605del (p.180_181QG[12])	MESP2	Deletion (inframe_deletion)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 556240	NM_001039958.2(MESP2):c.640_643del (p.Val214fs)	MESP2 (V214fs)	Deletion (frameshift variant)	Spondylocostal dysostosis 2, autosomal recessive +1 more	GUncertain significance
Select item 257247	NM_001039958.2(MESP2):c.671C>T (p.Ser224Phe)	MESP2 (S224F)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 2, autosomal recessive +2 more	GBenign
Select item 556597	NM_001039958.2(MESP2):c.718del (p.Val240fs)	MESP2 (V240fs)	Deletion (frameshift variant)	not provided +1 more	GUncertain significance
Select item 554365	NM_001039958.2(MESP2):c.737G>A (p.Trp246Ter)	MESP2 (W246*)	Single nucleotide variant (nonsense)	Spondylocostal dysostosis 2, autosomal recessive	GLikely pathogenic
Select item 551393	NM_001039958.2(MESP2):c.801_806del (p.Asp268_Ala269del)	MESP2	Deletion (inframe_deletion)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 257248	NM_001039958.2(MESP2):c.885G>C (p.Thr295=)	MESP2	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 552673	NM_001039958.2(MESP2):c.918_919del (p.Tyr307fs)	MESP2 (Y307fs)	Microsatellite (frameshift variant)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 552988	NM_001039958.2(MESP2):c.921C>G (p.Tyr307Ter)	MESP2 (Y307*)	Single nucleotide variant (nonsense)	Spondylocostal dysostosis 2, autosomal recessive +1 more	GUncertain significance
Select item 557438	NM_001039958.2(MESP2):c.948_949del (p.Cys317fs)	MESP2 (C317fs)	Deletion (frameshift variant)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 257250	NM_001039958.2(MESP2):c.957G>A (p.Ser319=)	MESP2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 556328	NM_001039958.2(MESP2):c.997A>T (p.Arg333Ter)	MESP2 (R333*)	Single nucleotide variant (nonsense)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 556463	NM_001039958.2(MESP2):c.1017dup (p.Gly340fs)	MESP2 (G340fs)	Duplication (frameshift variant)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 553409	NM_001039958.2(MESP2):c.1073_1074insAGAGGACCAGAGGACC (p.Gly359fs)	MESP2 (G359fs)	Insertion (frameshift variant)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 553854	NM_001039958.2(MESP2):c.1100_1101insT (p.Ser368fs)	MESP2 (S368fs)	Insertion (frameshift variant)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 550540	NM_001039958.2(MESP2):c.1144G>T (p.Glu382Ter)	MESP2 (E382*)	Single nucleotide variant (nonsense)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 554632	NM_001039958.2(MESP2):c.1151G>A (p.Trp384Ter)	MESP2 (W384*)	Single nucleotide variant (nonsense)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 550958	NM_001039958.2(MESP2):c.1155AGA[1] (p.Glu386del)	MESP2 (E386del)	Microsatellite (inframe_deletion)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance

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Items: 34