23184[geneid] - 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 specified +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 +1 more	GBenign/Likely benign
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 +1 more	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 (non-coding transcript 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=)	MESD, LOC121530597	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 (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1971226	NM_015154.3(MESD):c.99G>A (p.Ala33=)	LOC121530597, MESD	Single nucleotide variant (non-coding transcript 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)	not provided +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 (non-coding transcript 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	CHRNB4, CTSH +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	B2M, CTXN2 +472 more	Duplication	Bloom syndrome +1 more	GUncertain significance
Select item 831029	NC_000015.9:g.(?_80403807)_(81274523_?)dup	ABHD17C, ARNT2 +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

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Items: 100