ClinVar 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 3294284	NM_001039958.2(MESP2):c.676T>C (p.Cys226Arg)	MESP2 (C226R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3294282	NM_001039958.2(MESP2):c.613G>T (p.Gly205Trp)	MESP2 (G205W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3243865	NC_000015.9:g.(?_90319589)_(90321565_?)del	MESP2	Deletion	not provided	GPathogenic
Select item 3243685	NC_000015.9:g.(?_89379429)_(91312836_?)del	ABHD2, ACAN +29 more	Deletion	D-2-hydroxyglutaric aciduria 2 +1 more	GConflicting classifications of pathogenicity
Select item 3125393	NM_001039958.2(MESP2):c.851C>G (p.Ser284Cys)	MESP2 (S284C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 3125389	NM_001039958.2(MESP2):c.116C>T (p.Ser39Leu)	MESP2 (S39L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3125388	NM_001039958.2(MESP2):c.1139G>A (p.Cys380Tyr)	MESP2 (C380Y)	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 3063386	GRCh37/hg19 15q26.1(chr15:90273673-90331282)x1	ANPEP, MESP1 +2 more	Copy number loss	not specified	GUncertain significance
Select item 3020752	NM_001039958.2(MESP2):c.125C>A (p.Ser42Ter)	MESP2 (S42*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3014492	NM_001039958.2(MESP2):c.1170G>A (p.Gly390=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3011170	NM_001039958.2(MESP2):c.63C>A (p.Gly21=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010877	NM_001039958.2(MESP2):c.627C>T (p.Gly209=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007919	NM_001039958.2(MESP2):c.925-9C>T	MESP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998074	NM_001039958.2(MESP2):c.925-16C>G	MESP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991349	NM_001039958.2(MESP2):c.1176C>T (p.Arg392=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990138	NM_001039958.2(MESP2):c.573G>T (p.Gly191=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990064	NM_001039958.2(MESP2):c.234A>C (p.Pro78=)	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 2978353	NM_001039958.2(MESP2):c.924+13G>T	MESP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970281	NM_001039958.2(MESP2):c.672C>T (p.Ser224=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966249	NM_001039958.2(MESP2):c.417G>A (p.Leu139=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962268	NM_001039958.2(MESP2):c.421C>G (p.Leu141Val)	MESP2 (L141V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2955726	NM_001039958.2(MESP2):c.948C>G (p.Pro316=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955608	NM_001039958.2(MESP2):c.885G>T (p.Thr295=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955423	NM_001039958.2(MESP2):c.990A>G (p.Ser330=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2917896	NM_001039958.2(MESP2):c.924+15C>T	MESP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2915978	NM_001039958.2(MESP2):c.924+20C>T	MESP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2915692	NM_001039958.2(MESP2):c.709G>C (p.Gly237Arg)	MESP2 (G237R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2913607	NM_001039958.2(MESP2):c.924+13G>A	MESP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2911295	NM_001039958.2(MESP2):c.849G>A (p.Ser283=)	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 2908957	NM_001039958.2(MESP2):c.891C>T (p.Ala297=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906586	NM_001039958.2(MESP2):c.510C>T (p.Pro170=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2888563	NM_001039958.2(MESP2):c.1122C>G (p.Gly374=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888337	NM_001039958.2(MESP2):c.924+19G>C	MESP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2888302	NM_001039958.2(MESP2):c.976C>T (p.Leu326=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877527	NM_001039958.2(MESP2):c.543G>A (p.Gly181=)	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 2869017	NM_001039958.2(MESP2):c.1143T>G (p.Pro381=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2851670	NM_001039958.2(MESP2):c.427G>T (p.Glu143Ter)	MESP2 (E143*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 2848541	NM_001039958.2(MESP2):c.86dup (p.Asp29fs)	MESP2 (D29fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2847043	NM_001039958.2(MESP2):c.21G>A (p.Pro7=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2842471	NM_001039958.2(MESP2):c.1050G>A (p.Val350=)	MESP2	Single nucleotide variant (synonymous variant)	MESP2-related disorder +1 more	GLikely benign
Select item 2837592	NM_001039958.2(MESP2):c.146_161dup (p.Gln55fs)	MESP2 (Q55fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2830109	NM_001039958.2(MESP2):c.846G>A (p.Gln282=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2822162	NM_001039958.2(MESP2):c.798C>A (p.Thr266=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2819757	NM_001039958.2(MESP2):c.925-4G>A	MESP2	Single nucleotide variant (intron 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 2812498	NM_001039958.2(MESP2):c.78C>T (p.Gly26=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2808490	NM_001039958.2(MESP2):c.193G>T (p.Glu65Ter)	MESP2 (E65*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2806588	NM_001039958.2(MESP2):c.33C>A (p.Leu11=)	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 2804481	NM_001039958.2(MESP2):c.408G>C (p.Ser136=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2793662	NM_001039958.2(MESP2):c.867C>T (p.Asn289=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2793637	NM_001039958.2(MESP2):c.924+19G>T	MESP2	Single nucleotide variant (intron 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 2780402	NM_001039958.2(MESP2):c.90C>T (p.Ser30=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2780168	NM_001039958.2(MESP2):c.459C>G (p.Arg153=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2770537	NM_001039958.2(MESP2):c.429G>A (p.Glu143=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2763429	NM_001039958.2(MESP2):c.654G>A (p.Ala218=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2762690	NM_001039958.2(MESP2):c.672C>G (p.Ser224=)	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 2755098	NM_001039958.2(MESP2):c.489G>C (p.Pro163=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2747112	NM_001039958.2(MESP2):c.603G>T (p.Gly201=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2745631	NM_001039958.2(MESP2):c.1170G>T (p.Gly390=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2740271	NM_001039958.2(MESP2):c.925-14C>T	MESP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2739079	NM_001039958.2(MESP2):c.171G>A (p.Pro57=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2731214	NM_001039958.2(MESP2):c.117G>C (p.Ser39=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2718585	NM_001039958.2(MESP2):c.925-16C>A	MESP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2715608	NM_001039958.2(MESP2):c.1167G>A (p.Glu389=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2710072	NM_001039958.2(MESP2):c.840G>A (p.Trp280Ter)	MESP2 (W280*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2707964	NM_001039958.2(MESP2):c.399C>T (p.Gly133=)	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 2704655	NM_001039958.2(MESP2):c.480G>A (p.Trp160Ter)	MESP2 (W160*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2704466	NM_001039958.2(MESP2):c.714G>A (p.Arg238=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2702503	NM_001039958.2(MESP2):c.663A>C (p.Gly221=)	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 2696739	NM_001039958.2(MESP2):c.210G>A (p.Thr70=)	MESP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2696640	NM_001039958.2(MESP2):c.925-12T>A	MESP2	Single nucleotide variant (intron 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 2691693	NM_001039958.2(MESP2):c.558_573delinsAGGA (p.180QG[11])	MESP2	Indel (inframe_deletion)	not specified	GBenign
Select item 2691628	NM_001039958.2(MESP2):c.837del (p.Trp280fs)	MESP2 (W280fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 2685530	GRCh37/hg19 15q26.1(chr15:89976407-90387346)x1	PLIN1, TICRR +10 more	Copy number loss	not provided	GUncertain significance
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

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