MESD[gene] - ClinVar

Search results

Items: 100

	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 1268091	NM_001293298.2(CEMIP):c.3858-310C>T	CEMIP, MESD	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1283387	NM_001293298.2(CEMIP):c.3858-208T>C	CEMIP, MESD	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 3265826	NM_001293298.2(CEMIP):c.3893T>C (p.Val1298Ala)	CEMIP, MESD (V1298A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3142145	NM_001293298.2(CEMIP):c.3910A>C (p.Thr1304Pro)	CEMIP, MESD (T1304P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1225089	NM_001293298.2(CEMIP):c.3958+221C>T	CEMIP, MESD	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1248114	NM_001293298.2(CEMIP):c.3958+306A>G	CEMIP, MESD	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1243745	NM_001293298.2(CEMIP):c.3959-321A>G	CEMIP, MESD	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1262356	NM_001293298.2(CEMIP):c.3959-77T>C	CEMIP, MESD	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2335678	NM_001293298.2(CEMIP):c.3994C>T (p.Arg1332Trp)	CEMIP, MESD (R1332W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 804686	NM_001293298.2(CEMIP):c.4069AAG[3] (p.Lys1360del)	CEMIP, MESD (K1360del)	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 2085663	NM_015154.3(MESD):c.677G>A (p.Arg226Gln)	MESD (R226Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 692263	NM_015154.3(MESD):c.676C>T (p.Arg226Ter)	MESD (R226*)	Single nucleotide variant (nonsense +1 more)	Osteogenesis imperfecta, type 20	GPathogenic
Select item 1682037	NM_015154.3(MESD):c.666G>A (p.Lys222=)	MESD	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2419095	NM_015154.3(MESD):c.656G>A (p.Arg219Gln)	MESD (R219Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2066371	NM_015154.3(MESD):c.643G>T (p.Asp215Tyr)	MESD (D215Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 692262	NM_015154.3(MESD):c.632dup (p.Lys212fs)	MESD (K212fs)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 692264	NM_015154.3(MESD):c.631_632del (p.Lys211fs)	MESD (K211fs)	Deletion (frameshift variant +1 more)	Osteogenesis imperfecta, type 20	GPathogenic
Select item 2079317	NM_015154.3(MESD):c.629A>C (p.Lys210Thr)	MESD (K210T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2707857	NM_015154.3(MESD):c.624C>A (p.Gly208=)	MESD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2018899	NM_015154.3(MESD):c.615A>C (p.Gln205His)	MESD (Q205H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2023793	NM_015154.3(MESD):c.613C>G (p.Gln205Glu)	MESD (Q205E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 692265	NM_015154.3(MESD):c.607_611del (p.Thr203fs)	MESD (T203fs)	Deletion (frameshift variant +1 more)	Osteogenesis imperfecta, type 20	GPathogenic
Select item 2074932	NM_015154.3(MESD):c.573C>T (p.Pro191=)	MESD	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2087817	NM_015154.3(MESD):c.556G>T (p.Glu186Ter)	MESD (E186*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2122449	NM_015154.3(MESD):c.555G>T (p.Leu185=)	MESD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2781780	NM_015154.3(MESD):c.553C>T (p.Leu185=)	MESD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2094242	NM_015154.3(MESD):c.547G>T (p.Val183Leu)	MESD (V183L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3125373	NM_015154.3(MESD):c.526G>A (p.Gly176Ser)	MESD (G176S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2877242	NM_015154.3(MESD):c.525C>G (p.Val175=)	MESD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2187912	NM_015154.3(MESD):c.498C>T (p.Tyr166=)	MESD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3125372	NM_015154.3(MESD):c.495C>G (p.Ser165Arg)	MESD (S165R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2874899	NM_015154.3(MESD):c.486C>T (p.Arg162=)	MESD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1961126	NM_015154.3(MESD):c.484C>T (p.Arg162Cys)	MESD (R162C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2711366	NM_015154.3(MESD):c.468T>C (p.Arg156=)	MESD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2068513	NM_015154.3(MESD):c.467G>A (p.Arg156His)	MESD (R156H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3125371	NM_015154.3(MESD):c.466C>T (p.Arg156Cys)	MESD (R156C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2084798	NM_015154.3(MESD):c.464A>G (p.Asp155Gly)	MESD (D155G)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2870661	NM_015154.3(MESD):c.447-19T>C	MESD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2076063	NM_015154.3(MESD):c.438C>T (p.Asp146=)	MESD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2192903	NM_015154.3(MESD):c.434A>G (p.Tyr145Cys)	MESD (Y145C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3125370	NM_015154.3(MESD):c.425A>G (p.Asn142Ser)	MESD (N142S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2102366	NM_015154.3(MESD):c.418C>A (p.Leu140Ile)	MESD (L140I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3125369	NM_015154.3(MESD):c.391G>A (p.Glu131Lys)	MESD (E131K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2159912	NM_015154.3(MESD):c.357T>C (p.Thr119=)	MESD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2053493	NM_015154.3(MESD):c.327A>G (p.Lys109=)	MESD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2186627	NM_015154.3(MESD):c.323C>T (p.Thr108Met)	MESD (T108M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2010007	NM_015154.3(MESD):c.286A>G (p.Ile96Val)	MESD (I96V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3125368	NM_015154.3(MESD):c.284A>G (p.Lys95Arg)	MESD (K95R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2869635	NM_015154.3(MESD):c.274G>A (p.Asp92Asn)	MESD (D92N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2775501	NM_015154.3(MESD):c.273C>T (p.Val91=)	MESD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2443890	NM_015154.3(MESD):c.265del (p.Ala89fs)	MESD (A89fs)	Deletion (frameshift variant +1 more)	Osteogenesis imperfecta, type 20	GPathogenic
Select item 2562897	NM_015154.3(MESD):c.227T>C (p.Ile76Thr)	MESD (I76T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1682038	NM_015154.3(MESD):c.213+20C>T	LOC121530597, MESD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2072452	NM_015154.3(MESD):c.213+5G>A	LOC121530597, MESD	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2716051	NM_015154.3(MESD):c.204G>A (p.Glu68=)	LOC121530597, MESD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3125367	NM_015154.3(MESD):c.169G>A (p.Asp57Asn)	LOC121530597, MESD (D57N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2890964	NM_015154.3(MESD):c.128A>G (p.Glu43Gly)	LOC121530597, MESD (E43G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2088647	NM_015154.3(MESD):c.111G>T (p.Ser37=)	LOC121530597, MESD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2102016	NM_015154.3(MESD):c.109T>A (p.Ser37Thr)	LOC121530597, MESD (S37T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2194674	NM_015154.3(MESD):c.107G>C (p.Gly36Ala)	LOC121530597, MESD (G36A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1971226	NM_015154.3(MESD):c.99G>A (p.Ala33=)	LOC121530597, MESD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3294272	NM_015154.3(MESD):c.97G>A (p.Ala33Thr)	LOC121530597, MESD (A33T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460047	NM_015154.3(MESD):c.85C>T (p.Pro29Ser)	LOC121530597, MESD (P29S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2123924	NM_015154.3(MESD):c.80dup (p.Pro28fs)	LOC121530597, MESD (P28fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2631909	NM_015154.3(MESD):c.57GCT[6] (p.Leu26_Pro27insLeu)	LOC121530597, MESD	Microsatellite (inframe_insertion +1 more)	MESD-related disorder +1 more	GUncertain significance
Select item 2072010	NM_015154.3(MESD):c.57GCT[7] (p.Leu26_Pro27insLeuLeu)	LOC121530597, MESD	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2047070	NM_015154.3(MESD):c.57GCT[3] (p.Leu25_Leu26del)	LOC121530597, MESD	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 3125375	NM_015154.3(MESD):c.56T>G (p.Leu19Arg)	LOC121530597, MESD (L19R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2190452	NM_015154.3(MESD):c.55_56delinsGG (p.Leu19Gly)	LOC121530597, MESD (L19G)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 3125374	NM_015154.3(MESD):c.55C>G (p.Leu19Val)	LOC121530597, MESD (L19V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2038785	NM_015154.3(MESD):c.48C>G (p.Ala16=)	LOC121530597, MESD	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2057624	NM_015154.3(MESD):c.44G>A (p.Cys15Tyr)	LOC121530597, MESD (C15Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2955051	NM_015154.3(MESD):c.30C>T (p.Ala10=)	LOC121530597, MESD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2185233	NM_015154.3(MESD):c.22C>T (p.Arg8Cys)	LOC121530597, MESD (R8C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1682039	NM_015154.3(MESD):c.11C>T (p.Ser4Phe)	LOC121530597, MESD (S4F)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2902842	NM_015154.3(MESD):c.5C>T (p.Ala2Val)	LOC121530597, MESD (A2V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2684765	GRCh37/hg19 15q25.1(chr15:80208164-81551831)x3	ABHD17C, ARNT2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	AAGAB, ABHD17C +209 more	Copy number gain	not provided	GPathogenic
Select item 2425995	NC_000015.9:g.(?_78857986)_(81282132_?)dup	ABHD17C, ADAMTS7 +19 more	Duplication	not provided	GUncertain significance
Select item 1809424	GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3	ABHD17C, ABHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 1807897	GRCh37/hg19 15q25.1-25.2(chr15:79996626-82097796)x1	ABHD17C, ARNT2 +13 more	Copy number loss	not provided	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 831029	NC_000015.9:g.(?_80403807)_(81274523_?)dup	MESD, ABHD17C +4 more	Duplication	Tyrosinemia type I	GUncertain significance
Select item 688687	GRCh37/hg19 15q25.1-25.2(chr15:80728654-84107646)x1	ABHD17C, AP3B2 +22 more	Copy number loss	not provided	GPathogenic
Select item 564224	GRCh37/hg19 15q25.1-25.2(chr15:80955355-82622366)x4	MESD, STARD5 +9 more	Copy number gain	not provided	GUncertain significance
Select item 564223	GRCh37/hg19 15q25.1-25.3(chr15:79023343-87158823)x1,2	ABHD17C, ADAMTS7 +49 more	Copy number gain	not provided	GPathogenic
Select item 564221	GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3	ABHD17C, ABHD2 +143 more	Copy number gain	not provided	GPathogenic
Select item 564214	GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3	ABHD17C, ABHD2 +215 more	Copy number gain	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 443269	GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3	ABHD17C, ABHD2 +153 more	Copy number gain	See cases	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 395044	GRCh37/hg19 15q25.1-25.2(chr15:80703867-83955596)x1	ABHD17C, AP3B2 +22 more	Copy number loss	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 100