145873[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC130057943, LOC130057944 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	LOC130057907, LOC130057908 +630 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	ABHD2, ACAN +611 more	Copy number gain	See cases	GPathogenic
Select item 153554	GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3	ABHD2, ACAN +552 more	Copy number gain	See cases	GPathogenic
Select item 148189	GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	MIR11181, MIR1179 +517 more	Copy number gain	See cases	GPathogenic
Select item 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	LOC130057997, LOC130057998 +500 more	Copy number gain	See cases	GPathogenic
Select item 154660	GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3	LOC130057929, LOC130057930 +311 more	Copy number gain	See cases	GPathogenic
Select item 58582	GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3	ADAMTS17, ALDH1A3 +422 more	Copy number gain	See cases	GPathogenic
Select item 154044	GRCh38/hg38 15q26.1(chr15:89738724-89788051)x1	ANPEP, LOC130057888 +7 more	Copy number loss	See cases	GUncertain significance
Select item 1224835	NC_000015.10:g.89776082T>C	MESP2	Single nucleotide variant	not provided	GBenign
Select item 1276179	NC_000015.10:g.89776088G>A	MESP2	Single nucleotide variant	not provided	GBenign
Select item 257238	NM_001039958.2(MESP2):c.-11G>A	MESP2	Single nucleotide variant (5 prime UTR variant)	Spondylocostal dysostosis +2 more	GLikely benign
Select item 2682567	NM_001039958.2(MESP2):c.1A>G (p.Met1Val)	MESP2 (M1V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2106318	NM_001039958.2(MESP2):c.7del (p.Gln3fs)	MESP2 (Q3fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1079839	NM_001039958.2(MESP2):c.6C>T (p.Ala2=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1453610	NM_001039958.2(MESP2):c.20_33dup (p.Gly12fs)	MESP2 (G12fs)	Duplication (frameshift variant)	not provided	GPathogenic
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 1452062	NM_001039958.2(MESP2):c.20_33del (p.Pro7fs)	MESP2 (P7fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1148593	NM_001039958.2(MESP2):c.18T>A (p.Pro6=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1428670	NM_001039958.2(MESP2):c.20C>A (p.Pro7Gln)	MESP2 (P7Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2847043	NM_001039958.2(MESP2):c.21G>A (p.Pro7=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2117220	NM_001039958.2(MESP2):c.21G>T (p.Pro7=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2044710	NM_001039958.2(MESP2):c.24G>A (p.Gln8=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1983222	NM_001039958.2(MESP2):c.30C>T (p.Leu10=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2806588	NM_001039958.2(MESP2):c.33C>A (p.Leu11=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1079286	NM_001039958.2(MESP2):c.36C>G (p.Gly12=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2162892	NM_001039958.2(MESP2):c.40G>T (p.Asp14Tyr)	MESP2 (D14Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3125392	NM_001039958.2(MESP2):c.43C>G (p.His15Asp)	MESP2 (H15D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1441772	NM_001039958.2(MESP2):c.47G>A (p.Trp16Ter)	MESP2 (W16*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 2627573	NM_001039958.2(MESP2):c.49del (p.Ile17fs)	MESP2 (I17fs)	Deletion (frameshift variant)	Spondylocostal dysostosis 2, autosomal recessive	GPathogenic
Select item 1455327	NM_001039958.2(MESP2):c.58C>T (p.Gln20Ter)	MESP2 (Q20*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3011170	NM_001039958.2(MESP2):c.63C>A (p.Gly21=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 731465	NM_001039958.2(MESP2):c.67G>A (p.Gly23Ser)	MESP2 (G23S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1148100	NM_001039958.2(MESP2):c.69C>T (p.Gly23=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1073707	NM_001039958.2(MESP2):c.72G>A (p.Trp24Ter)	MESP2 (W24*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1623430	NM_001039958.2(MESP2):c.75C>T (p.Ala25=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2812498	NM_001039958.2(MESP2):c.78C>T (p.Gly26=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2506245	NM_001039958.2(MESP2):c.83G>A (p.Trp28Ter)	MESP2 (W28*)	Single nucleotide variant (nonsense)	Spondylocostal dysostosis 2, autosomal recessive	GPathogenic
Select item 1069665	NM_001039958.2(MESP2):c.84G>A (p.Trp28Ter)	MESP2 (W28*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2848541	NM_001039958.2(MESP2):c.86dup (p.Asp29fs)	MESP2 (D29fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2058978	NM_001039958.2(MESP2):c.88T>A (p.Ser30Thr)	MESP2 (S30T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2780402	NM_001039958.2(MESP2):c.90C>T (p.Ser30=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2034906	NM_001039958.2(MESP2):c.93G>C (p.Thr31=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1575155	NM_001039958.2(MESP2):c.96C>T (p.Ser32=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3294283	NM_001039958.2(MESP2):c.110C>G (p.Ser37Cys)	MESP2 (S37C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1104790	NM_001039958.2(MESP2):c.111C>T (p.Ser37=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3125389	NM_001039958.2(MESP2):c.116C>T (p.Ser39Leu)	MESP2 (S39L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2731214	NM_001039958.2(MESP2):c.117G>C (p.Ser39=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2009632	NM_001039958.2(MESP2):c.117G>A (p.Ser39=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1951318	NM_001039958.2(MESP2):c.117G>T (p.Ser39=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2033824	NM_001039958.2(MESP2):c.123T>G (p.Gly41=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2025782	NM_001039958.2(MESP2):c.123T>A (p.Gly41=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1560226	NM_001039958.2(MESP2):c.123T>C (p.Gly41=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020752	NM_001039958.2(MESP2):c.125C>A (p.Ser42Ter)	MESP2 (S42*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1360441	NM_001039958.2(MESP2):c.132C>G (p.Pro44=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2416025	NM_001039958.2(MESP2):c.135C>A (p.Cys45Ter)	MESP2 (C45*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1141515	NM_001039958.2(MESP2):c.138C>T (p.Asp46=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2699640	NM_001039958.2(MESP2):c.141C>T (p.Gly47=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2837592	NM_001039958.2(MESP2):c.146_161dup (p.Gln55fs)	MESP2 (Q55fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2080218	NM_001039958.2(MESP2):c.145C>T (p.Arg49Cys)	MESP2 (R49C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1627459	NM_001039958.2(MESP2):c.147C>T (p.Arg49=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1104369	NM_001039958.2(MESP2):c.150A>G (p.Gly50=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1570886	NM_001039958.2(MESP2):c.153C>G (p.Leu51=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1583926	NM_001039958.2(MESP2):c.159G>A (p.Gln53=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2327784	NM_001039958.2(MESP2):c.161C>A (p.Pro54Gln)	MESP2 (P54Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1354759	NM_001039958.2(MESP2):c.162_175dup (p.Cys59fs)	MESP2 (C59fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1555937	NM_001039958.2(MESP2):c.162A>G (p.Pro54=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 714558	NM_001039958.2(MESP2):c.168T>G (p.Pro56=)	MESP2	Single nucleotide variant (synonymous variant)	Spondylocostal dysostosis 2, autosomal recessive +1 more	GConflicting classifications of pathogenicity
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 2739079	NM_001039958.2(MESP2):c.171G>A (p.Pro57=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2088021	NM_001039958.2(MESP2):c.174C>T (p.Ser58=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1070004	NM_001039958.2(MESP2):c.180_193dup (p.Glu65fs)	MESP2 (E65fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1535682	NM_001039958.2(MESP2):c.183C>G (p.Ser61=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 990309	NM_001039958.2(MESP2):c.183C>T (p.Ser61=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 317385	NM_001039958.2(MESP2):c.185G>A (p.Arg62Gln)	MESP2 (R62Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1141828	NM_001039958.2(MESP2):c.186A>G (p.Arg62=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2155765	NM_001039958.2(MESP2):c.189C>T (p.Ala63=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 751329	NM_001039958.2(MESP2):c.189C>G (p.Ala63=)	MESP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1976151	NM_001039958.2(MESP2):c.192A>C (p.Ala64=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2808490	NM_001039958.2(MESP2):c.193G>T (p.Glu65Ter)	MESP2 (E65*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1086221	NM_001039958.2(MESP2):c.195G>A (p.Glu65=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 38906	NM_001039958.2(MESP2):c.197C>G (p.Ala66Gly)	MESP2 (A66G)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1413192	NM_001039958.2(MESP2):c.199G>T (p.Ala67Ser)	MESP2 (A67S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1620020	NM_001039958.2(MESP2):c.201C>T (p.Ala67=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1113244	NM_001039958.2(MESP2):c.201C>G (p.Ala67=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2793046	NM_001039958.2(MESP2):c.204G>C (p.Ala68=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1118973	NM_001039958.2(MESP2):c.204G>A (p.Ala68=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2177320	NM_001039958.2(MESP2):c.207G>A (p.Thr69=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2119219	NM_001039958.2(MESP2):c.207G>C (p.Thr69=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1157167	NM_001039958.2(MESP2):c.207G>T (p.Thr69=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2696739	NM_001039958.2(MESP2):c.210G>A (p.Thr70=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1957866	NM_001039958.2(MESP2):c.210G>T (p.Thr70=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1668867	NM_001039958.2(MESP2):c.216A>G (p.Arg72=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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