168667[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 57469	GRCh38/hg38 7p14.3(chr7:30420933-34560665)x3	ADCYAP1R1, AQP1 +85 more	Copy number gain	See cases	GPathogenic
Select item 151578	GRCh38/hg38 7p14.3-14.1(chr7:32678391-41044983)x1	AMPH, ANLN +229 more	Copy number loss	See cases	GPathogenic
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 153776	GRCh38/hg38 7p14.3(chr7:33733356-34433006)x1	BMPER, LOC110121066 +6 more	Copy number loss	See cases	GLikely benign
Select item 360084	NM_133468.5(BMPER):c.-362C>A	BMPER	Single nucleotide variant (5 prime UTR variant)	Diaphanospondylodysostosis	GLikely benign
Select item 360085	NM_133468.5(BMPER):c.-313G>C	BMPER	Single nucleotide variant (5 prime UTR variant)	Diaphanospondylodysostosis	GBenign
Select item 912274	NM_133468.5(BMPER):c.-293T>C	BMPER	Single nucleotide variant (5 prime UTR variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 360086	NM_133468.5(BMPER):c.-263G>A	BMPER	Single nucleotide variant (5 prime UTR variant)	Diaphanospondylodysostosis	GBenign
Select item 360087	NM_133468.5(BMPER):c.-230G>A	BMPER	Single nucleotide variant (5 prime UTR variant)	Diaphanospondylodysostosis	GBenign
Select item 360088	NM_133468.5(BMPER):c.-211G>A	BMPER	Single nucleotide variant (5 prime UTR variant)	Diaphanospondylodysostosis	GBenign
Select item 912275	NM_133468.5(BMPER):c.-201G>T	BMPER	Single nucleotide variant (5 prime UTR variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 360089	NM_133468.5(BMPER):c.-192G>A	BMPER	Single nucleotide variant (5 prime UTR variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 360090	NM_133468.5(BMPER):c.-190C>T	BMPER	Single nucleotide variant (5 prime UTR variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 360091	NM_133468.5(BMPER):c.-160G>A	BMPER	Single nucleotide variant (5 prime UTR variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 360092	NM_133468.5(BMPER):c.-141+4A>G	BMPER	Single nucleotide variant (intron variant)	Diaphanospondylodysostosis	GBenign
Select item 360093	NM_133468.5(BMPER):c.-141+9T>A	BMPER	Single nucleotide variant (intron variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 360094	NM_133468.5(BMPER):c.-108G>A	BMPER	Single nucleotide variant (5 prime UTR variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 360095	NM_001365308.1(BMPER):c.-25C>A	BMPER	Single nucleotide variant (5 prime UTR variant)	Diaphanospondylodysostosis	GBenign
Select item 3058607	NM_001365308.1(BMPER):c.-1G>C	BMPER	Single nucleotide variant (5 prime UTR variant)	BMPER-related disorder	GLikely benign
Select item 1489658	NM_001365308.1(BMPER):c.16G>C (p.Gly6Arg)	BMPER (G6R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2889457	NM_001365308.1(BMPER):c.18C>A (p.Gly6=)	BMPER	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1481932	NM_001365308.1(BMPER):c.25G>A (p.Ala9Thr)	BMPER (A9T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 30743	NM_001365308.1(BMPER):c.26_35delinsAGACCAGAGCGGCG (p.Ala9fs)	BMPER (A9fs)	Indel (frameshift variant)	Diaphanospondylodysostosis	GPathogenic
Select item 1999680	NM_001365308.1(BMPER):c.36G>A (p.Glu12=)	BMPER	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1429321	NM_001365308.1(BMPER):c.46C>A (p.Arg16Ser)	BMPER (R16S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2485467	NM_001365308.1(BMPER):c.47G>T (p.Arg16Leu)	BMPER (R16L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623687	NM_001365308.1(BMPER):c.49C>T (p.Arg17Cys)	BMPER (R17C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2744092	NM_001365308.1(BMPER):c.60G>A (p.Gly20=)	BMPER	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961521	NM_001365308.1(BMPER):c.69C>T (p.Cys23=)	BMPER	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1660517	NM_001365308.1(BMPER):c.79C>T (p.Leu27=)	BMPER	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2284658	NM_001365308.1(BMPER):c.89A>G (p.Asn30Ser)	BMPER (N30S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1399303	NM_001365308.1(BMPER):c.106A>G (p.Met36Val)	BMPER (M36V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2325237	NM_001365308.1(BMPER):c.107T>G (p.Met36Arg)	BMPER (M36R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1354399	NM_001365308.1(BMPER):c.107T>C (p.Met36Thr)	BMPER (M36T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 360096	NM_001365308.1(BMPER):c.115G>T (p.Ala39Ser)	BMPER (A39S)	Single nucleotide variant (missense variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 1360194	NM_001365308.1(BMPER):c.116C>G (p.Ala39Gly)	BMPER (A39G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3050672	NM_001365308.1(BMPER):c.133+8A>T	BMPER	Single nucleotide variant (intron variant)	BMPER-related disorder	GLikely benign
Select item 1121976	NM_001365308.1(BMPER):c.133+8A>G	BMPER	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 360097	NM_001365308.1(BMPER):c.133+9G>C	BMPER	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1912475	NM_001365308.1(BMPER):c.133+15G>A	BMPER	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268154	NM_001365308.1(BMPER):c.133+222C>T	BMPER	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 445605	NM_001365308.1(BMPER):c.134-17T>C	BMPER	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1552332	NM_001365308.1(BMPER):c.134-16C>T	BMPER	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1645783	NM_001365308.1(BMPER):c.168C>T (p.Val56=)	BMPER	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3134588	NM_001365308.1(BMPER):c.195C>A (p.Asn65Lys)	BMPER (N65K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1967556	NM_001365308.1(BMPER):c.197C>T (p.Pro66Leu)	BMPER (P66L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1573116	NM_001365308.1(BMPER):c.219+18G>C	BMPER	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275389	NM_001365308.1(BMPER):c.220-268C>T	BMPER	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1635478	NM_001365308.1(BMPER):c.220-19C>T	BMPER	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 402429	NM_001365308.1(BMPER):c.220A>G (p.Asn74Asp)	BMPER (N74D)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1395014	NM_001365308.1(BMPER):c.229G>A (p.Val77Met)	BMPER (V77M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2208125	NM_001365308.1(BMPER):c.232A>G (p.Thr78Ala)	BMPER (T78A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1546235	NM_001365308.1(BMPER):c.246G>A (p.Glu82=)	BMPER	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 360098	NM_001365308.1(BMPER):c.254C>T (p.Pro85Leu)	BMPER (P85L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1979106	NM_001365308.1(BMPER):c.255C>T (p.Pro85=)	BMPER	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2379065	NM_001365308.1(BMPER):c.256G>A (p.Val86Met)	BMPER (V86M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1644595	NM_001365308.1(BMPER):c.319+18C>T	BMPER	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1914410	NM_001365308.1(BMPER):c.319+19G>A	BMPER	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1227747	NM_001365308.1(BMPER):c.319+101C>T	BMPER	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181037	NM_001365308.1(BMPER):c.319+150A>G	BMPER	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2716304	NM_001365308.1(BMPER):c.320-10T>G	BMPER	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2064544	NM_001365308.1(BMPER):c.322T>C (p.Cys108Arg)	BMPER (C108R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2880500	NM_001365308.1(BMPER):c.333A>G (p.Glu111=)	BMPER	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1500921	NM_001365308.1(BMPER):c.340A>G (p.Thr114Ala)	BMPER (T114A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3134592	NM_001365308.1(BMPER):c.362G>T (p.Trp121Leu)	BMPER (W121L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1911443	NM_001365308.1(BMPER):c.371C>T (p.Pro124Leu)	BMPER (P124L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 360099	NM_001365308.1(BMPER):c.372G>A (p.Pro124=)	BMPER	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 910219	NM_001365308.1(BMPER):c.390A>C (p.Leu130=)	BMPER	Single nucleotide variant (synonymous variant)	Diaphanospondylodysostosis +1 more	GConflicting classifications of pathogenicity
Select item 910220	NM_001365308.1(BMPER):c.391C>T (p.Arg131Cys)	BMPER (R131C)	Single nucleotide variant (missense variant)	Diaphanospondylodysostosis +1 more	GUncertain significance
Select item 2779799	NM_001365308.1(BMPER):c.396G>A (p.Gln132=)	BMPER	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2135734	NM_001365308.1(BMPER):c.402+10A>C	BMPER	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1530089	NM_001365308.1(BMPER):c.402+17TC[3]	BMPER	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1227797	NM_001365308.1(BMPER):c.402+189G>A	BMPER	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274413	NM_001365308.1(BMPER):c.402+222A>T	BMPER	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1537608	NM_001365308.1(BMPER):c.403-13T>A	BMPER	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 910221	NM_001365308.1(BMPER):c.403-13T>C	BMPER	Single nucleotide variant (intron variant)	Diaphanospondylodysostosis +1 more	GConflicting classifications of pathogenicity
Select item 1563951	NM_001365308.1(BMPER):c.403-11_403-10del	BMPER	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 360100	NM_001365308.1(BMPER):c.406G>A (p.Gly136Ser)	BMPER (G136S)	Single nucleotide variant (missense variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 360101	NM_001365308.1(BMPER):c.408C>T (p.Gly136=)	BMPER	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 559441	NM_001365308.1(BMPER):c.410T>A (p.Val137Asp)	BMPER (V137D)	Single nucleotide variant (missense variant)	Diaphanospondylodysostosis	GPathogenic/Likely pathogenic
Select item 2551254	NM_001365308.1(BMPER):c.415A>G (p.Thr139Ala)	BMPER (T139A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 988511	NM_001365308.1(BMPER):c.416C>G (p.Thr139Arg)	BMPER (T139R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 770373	NM_001365308.1(BMPER):c.417A>T (p.Thr139=)	BMPER	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2415272	NM_001365308.1(BMPER):c.419A>G (p.Glu140Gly)	BMPER (E140G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2275820	NM_001365308.1(BMPER):c.437T>C (p.Val146Ala)	BMPER (V146A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 360102	NM_001365308.1(BMPER):c.474G>A (p.Met158Ile)	BMPER (M158I)	Single nucleotide variant (missense variant)	Diaphanospondylodysostosis +1 more	GBenign
Select item 2198747	NM_001365308.1(BMPER):c.490C>G (p.Pro164Ala)	BMPER (P164A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 911114	NM_001365308.1(BMPER):c.493+5C>T	BMPER	Single nucleotide variant (intron variant)	Diaphanospondylodysostosis +1 more	GConflicting classifications of pathogenicity
Select item 2975662	NM_001365308.1(BMPER):c.493+12A>G	BMPER	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2098028	NM_001365308.1(BMPER):c.493+16A>C	BMPER	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976158	NM_001365308.1(BMPER):c.494-16C>T	BMPER	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959492	NM_001365308.1(BMPER):c.494-11C>G	BMPER	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1899564	NM_001365308.1(BMPER):c.494-9G>A	BMPER	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010555	NM_001365308.1(BMPER):c.494-8C>T	BMPER	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 988319	NM_001365308.1(BMPER):c.501_502del (p.Val167_Phe168insTer)	BMPER	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2065704	NM_001365308.1(BMPER):c.505G>A (p.Glu169Lys)	BMPER (E169K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1979294	NM_001365308.1(BMPER):c.513G>A (p.Val171=)	BMPER	Single nucleotide variant (synonymous variant)	not provided	GBenign

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