Related gene-specific medical variations for Gene (Select 145873) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336591	NM_001039958.2(MESP2):c.250C>A (p.Gln84Lys)	LOC130057891, MESP2 (Q84K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243865	NC_000015.9:g.(?_90319589)_(90321565_?)del	MESP2	Deletion	not provided	GPathogenic
Select item 3125391	NM_001039958.2(MESP2):c.295C>T (p.Arg99Cys)	LOC130057891, MESP2 (R99C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3125390	NM_001039958.2(MESP2):c.248G>T (p.Arg83Leu)	LOC130057891, MESP2 (R83L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064545	NM_001039958.2(MESP2):c.157C>T (p.Gln53Ter)	MESP2 (Q53*)	Single nucleotide variant (nonsense)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 3014223	NM_001039958.2(MESP2):c.366C>A (p.Ile122=)	LOC130057891, MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984740	NM_001039958.2(MESP2):c.258C>A (p.Ala86=)	LOC130057891, MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2910610	NM_001039958.2(MESP2):c.249G>A (p.Arg83=)	LOC130057891, MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2910384	NM_001039958.2(MESP2):c.367G>T (p.Glu123Ter)	LOC130057891, MESP2 (E123*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2896562	NM_001039958.2(MESP2):c.265C>A (p.Arg89=)	LOC130057891, MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869697	NM_001039958.2(MESP2):c.267G>C (p.Arg89=)	LOC130057891, MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2851650	NM_001039958.2(MESP2):c.249_250delinsTT (p.Gln84Ter)	LOC130057891, MESP2 (Q84*)	Indel (nonsense)	not provided	GPathogenic
Select item 2849600	NM_001039958.2(MESP2):c.372G>T (p.Thr124=)	LOC130057891, MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2815183	NM_001039958.2(MESP2):c.288del (p.Leu97fs)	LOC130057891, MESP2 (L97fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2809277	NM_001039958.2(MESP2):c.372G>A (p.Thr124=)	LOC130057891, MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2806478	NM_001039958.2(MESP2):c.288G>C (p.Thr96=)	LOC130057891, MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2805462	NM_001039958.2(MESP2):c.287C>A (p.Thr96Lys)	LOC130057891, MESP2 (T96K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2803512	NM_001039958.2(MESP2):c.309G>A (p.Glu103=)	LOC130057891, MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2756428	NM_001039958.2(MESP2):c.335T>A (p.Leu112Ter)	LOC130057891, MESP2 (L112*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2755648	NM_001039958.2(MESP2):c.321del (p.Leu108fs)	LOC130057891, MESP2 (L108fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2740274	NM_001039958.2(MESP2):c.333C>G (p.Ser111=)	LOC130057891, MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2705938	NM_001039958.2(MESP2):c.373C>T (p.Leu125=)	LOC130057891, MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2696260	NM_001039958.2(MESP2):c.322C>T (p.Leu108=)	LOC130057891, MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2200429	NM_001039958.2(MESP2):c.316C>A (p.Arg106Ser)	LOC130057891, MESP2 (R106S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2184040	NM_001039958.2(MESP2):c.315C>T (p.Arg105=)	LOC130057891, MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2168923	NM_001039958.2(MESP2):c.243A>G (p.Gly81=)	LOC130057891, MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2162900	NM_001039958.2(MESP2):c.332C>A (p.Ser111Tyr)	LOC130057891, MESP2 (S111Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2162338	NM_001039958.2(MESP2):c.306C>T (p.His102=)	LOC130057891, MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2161095	NM_001039958.2(MESP2):c.389G>A (p.Arg130His)	LOC130057891, MESP2 (R130H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2144477	NM_001039958.2(MESP2):c.306C>G (p.His102Gln)	LOC130057891, MESP2 (H102Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2130738	NM_001039958.2(MESP2):c.324G>T (p.Leu108=)	LOC130057891, MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2115978	NM_001039958.2(MESP2):c.300C>T (p.Ala100=)	LOC130057891, MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2103955	NM_001039958.2(MESP2):c.249G>C (p.Arg83=)	LOC130057891, MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2099350	NM_001039958.2(MESP2):c.393C>A (p.Tyr131Ter)	LOC130057891, MESP2 (Y131*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2084734	NM_001039958.2(MESP2):c.330C>T (p.Pro110=)	LOC130057891, MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2053439	NM_001039958.2(MESP2):c.307G>A (p.Glu103Lys)	LOC130057891, MESP2 (E103K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2016034	NM_001039958.2(MESP2):c.244C>T (p.Gln82Ter)	LOC130057891, MESP2 (Q82*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1973963	NM_001039958.2(MESP2):c.292del (p.Ala98fs)	LOC130057891, MESP2 (A98fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1677202	NM_001039958.2(MESP2):c.401_411dup (p.Val138fs)	LOC130057891, MESP2 (V138fs)	Duplication (frameshift variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1649953	NM_001039958.2(MESP2):c.267G>A (p.Arg89=)	LOC130057891, MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1627214	NM_001039958.2(MESP2):c.384C>T (p.Ala128=)	LOC130057891, MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1613375	NM_001039958.2(MESP2):c.387C>T (p.Ile129=)	LOC130057891, MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1604308	NM_001039958.2(MESP2):c.240C>T (p.Gly80=)	LOC130057891, MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1592815	NM_001039958.2(MESP2):c.396C>T (p.Ile132=)	LOC130057891, MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1588236	NM_001039958.2(MESP2):c.345C>T (p.Ala115=)	LOC130057891, MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1580519	NM_001039958.2(MESP2):c.297C>A (p.Arg99=)	LOC130057891, MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1578765	NM_001039958.2(MESP2):c.390C>T (p.Arg130=)	LOC130057891, MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1567996	NM_001039958.2(MESP2):c.387C>A (p.Ile129=)	LOC130057891, MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1563388	NM_001039958.2(MESP2):c.297C>G (p.Arg99=)	LOC130057891, MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1456533	NM_001039958.2(MESP2):c.324_327dup (p.Pro110fs)	LOC130057891, MESP2 (P110fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1425258	NM_001039958.2(MESP2):c.383C>T (p.Ala128Val)	LOC130057891, MESP2 (A128V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1421929	NM_001039958.2(MESP2):c.266G>A (p.Arg89Gln)	LOC130057891, MESP2 (R89Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1421300	NM_001039958.2(MESP2):c.295C>A (p.Arg99Ser)	MESP2, LOC130057891 (R99S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1403241	NM_001039958.2(MESP2):c.259A>G (p.Ser87Gly)	LOC130057891, MESP2 (S87G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1366394	NM_001039958.2(MESP2):c.397G>C (p.Gly133Arg)	LOC130057891, MESP2 (G133R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1153429	NM_001039958.2(MESP2):c.247C>A (p.Arg83=)	LOC130057891, MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1143530	NM_001039958.2(MESP2):c.270G>A (p.Glu90=)	LOC130057891, MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1137321	NM_001039958.2(MESP2):c.318C>T (p.Arg106=)	LOC130057891, MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1135743	NM_001039958.2(MESP2):c.301C>T (p.Leu101=)	LOC130057891, MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1125991	NM_001039958.2(MESP2):c.264G>A (p.Glu88=)	MESP2, LOC130057891	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1125397	NM_001039958.2(MESP2):c.378C>T (p.Arg126=)	LOC130057891, MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1116856	NM_001039958.2(MESP2):c.303G>A (p.Leu101=)	LOC130057891, MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1114910	NM_001039958.2(MESP2):c.339G>A (p.Ala113=)	LOC130057891, MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1112626	NM_001039958.2(MESP2):c.345C>G (p.Ala115=)	LOC130057891, MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1107691	NM_001039958.2(MESP2):c.333C>T (p.Ser111=)	LOC130057891, MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1101907	NM_001039958.2(MESP2):c.342G>C (p.Pro114=)	LOC130057891, MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1098113	NM_001039958.2(MESP2):c.327T>G (p.Pro109=)	LOC130057891, MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1097400	NM_001039958.2(MESP2):c.294C>T (p.Ala98=)	LOC130057891, MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1092540	NM_001039958.2(MESP2):c.279C>A (p.Arg93=)	LOC130057891, MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1086025	NM_001039958.2(MESP2):c.288G>A (p.Thr96=)	LOC130057891, MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1082952	NM_001039958.2(MESP2):c.342G>T (p.Pro114=)	LOC130057891, MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 990968	NM_001039958.2(MESP2):c.461G>C (p.Gly154Ala)	MESP2 (G154A)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 990967	NM_001039958.2(MESP2):c.320T>C (p.Phe107Ser)	LOC130057891, MESP2 (F107S)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 990314	NM_001039958.2(MESP2):c.278G>C (p.Arg93Pro)	LOC130057891, MESP2 (R93P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 990313	NM_001039958.2(MESP2):c.255C>G (p.Ser85Arg)	LOC130057891, MESP2 (S85R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 990312	NM_001039958.2(MESP2):c.248G>C (p.Arg83Pro)	LOC130057891, MESP2 (R83P)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 990311	NM_001039958.2(MESP2):c.245A>G (p.Gln82Arg)	LOC130057891, MESP2 (Q82R)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 990310	NM_001039958.2(MESP2):c.196G>A (p.Ala66Thr)	MESP2 (A66T)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 990308	NM_001039958.2(MESP2):c.170C>G (p.Pro57Arg)	MESP2 (P57R)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 2, autosomal recessive	GUncertain significance
Select item 951955	NM_001039958.2(MESP2):c.281dup (p.Met94fs)	LOC130057891, MESP2 (M94fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 785508	NM_001039958.2(MESP2):c.355C>T (p.Leu119=)	LOC130057891, MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 761879	NM_001039958.2(MESP2):c.378C>G (p.Arg126=)	LOC130057891, MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 751311	NM_001039958.2(MESP2):c.363G>A (p.Lys121=)	LOC130057891, MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 742045	NM_001039958.2(MESP2):c.357G>C (p.Leu119=)	LOC130057891, MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 711356	NM_001039958.2(MESP2):c.350A>G (p.Gln117Arg)	LOC130057891, MESP2 (Q117R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 591472	NM_001039958.2(MESP2):c.956_957insAG (p.Leu320fs)	MESP2 (L320fs)	Insertion (frameshift variant)	not provided	GUncertain significance
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 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 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 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 284850	NM_001039958.2(MESP2):c.306C>A (p.His102Gln)	MESP2, LOC130057891 (H102Q)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 257246	NM_001039958.2(MESP2):c.585ACAGGGGCAAGG[1] (p.180QG[11])	MESP2	Microsatellite (inframe_deletion)	not specified	GLikely benign
Select item 257245	NM_001039958.2(MESP2):c.561GCAGGGGCAAGG[1] (p.180QG[11])	MESP2	Microsatellite (inframe_deletion)	not specified	GBenign
Select item 257244	NM_001039958.2(MESP2):c.561_584del (p.180_181QG[9])	MESP2	Deletion (inframe_deletion)	not specified	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 38910	NM_001039958.1(MESP2):c.535GGGCAGGGGCAA[2_4]	MESP2	Microsatellite	Spondylocostal dysostosis 2, autosomal recessive	GBenign
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 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 38907	NM_001039958.2(MESP2):c.241G>T (p.Gly81Ter)	LOC130057891, MESP2 (G81*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic

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