ClinVar for MedGen (Select 374993) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2690937	NM_001365308.1(BMPER):c.1166T>G (p.Val389Gly)	BMPER (V389G)	Single nucleotide variant (missense variant +1 more)	Diaphanospondylodysostosis	GUncertain significance
Select item 2688674	NM_001365308.1(BMPER):c.832T>G (p.Cys278Gly)	BMPER (C278G)	Single nucleotide variant (missense variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 2688673	NM_001365308.1(BMPER):c.927+6T>A	BMPER	Single nucleotide variant (intron variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 2437599	NM_001365308.1(BMPER):c.721C>T (p.Arg241Ter)	BMPER (R241*)	Single nucleotide variant (nonsense)	Diaphanospondylodysostosis	GLikely pathogenic
Select item 2180879	NM_001365308.1(BMPER):c.1744C>T (p.Arg582Trp)	BMPER (R582W +1 more)	Single nucleotide variant (missense variant)	Diaphanospondylodysostosis +1 more	GUncertain significance
Select item 1679888	NM_001365308.1(BMPER):c.1124T>C (p.Phe375Ser)	BMPER (F375S)	Single nucleotide variant (missense variant)	Diaphanospondylodysostosis +1 more	GUncertain significance
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 912275	NM_133468.5(BMPER):c.-201G>T	BMPER	Single nucleotide variant (5 prime UTR variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 912274	NM_133468.5(BMPER):c.-293T>C	BMPER	Single nucleotide variant (5 prime UTR variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 911453	NM_001365308.1(BMPER):c.*1807C>A	BMPER	Single nucleotide variant (3 prime UTR variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 911452	NM_001365308.1(BMPER):c.*1794G>A	BMPER	Single nucleotide variant (3 prime UTR variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 911377	NM_001365308.1(BMPER):c.*516G>T	BMPER	Single nucleotide variant (3 prime UTR variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 911376	NM_001365308.1(BMPER):c.*490T>C	BMPER	Single nucleotide variant (3 prime UTR variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 911375	NM_001365308.1(BMPER):c.*267C>T	BMPER	Single nucleotide variant (3 prime UTR variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 911319	NM_001365308.1(BMPER):c.1457C>T (p.Ala486Val)	BMPER (A486V)	Single nucleotide variant (missense variant)	Diaphanospondylodysostosis +1 more	GUncertain significance
Select item 911318	NM_001365308.1(BMPER):c.1311C>T (p.Thr437=)	BMPER	Single nucleotide variant (synonymous variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 911252	NM_001365308.1(BMPER):c.*1605C>T	BMPER	Single nucleotide variant (3 prime UTR variant)	Diaphanospondylodysostosis	GLikely benign
Select item 911251	NM_001365308.1(BMPER):c.*1596A>G	BMPER	Single nucleotide variant (3 prime UTR variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 911250	NM_001365308.1(BMPER):c.*1403C>T	BMPER	Single nucleotide variant (3 prime UTR variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 911179	NM_001365308.1(BMPER):c.*244C>A	BMPER	Single nucleotide variant (3 prime UTR variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 911178	NM_001365308.1(BMPER):c.*134T>C	BMPER	Single nucleotide variant (3 prime UTR variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 911177	NM_001365308.1(BMPER):c.*129A>T	BMPER	Single nucleotide variant (3 prime UTR variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 911176	NM_001365308.1(BMPER):c.*111C>A	BMPER	Single nucleotide variant (3 prime UTR variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 911175	NM_001365308.1(BMPER):c.*53G>A	BMPER	Single nucleotide variant (3 prime UTR variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 911174	NM_001365308.1(BMPER):c.2054G>A (p.Arg685Gln)	BMPER (R685Q)	Single nucleotide variant (missense variant)	Diaphanospondylodysostosis +1 more	GUncertain significance
Select item 911116	NM_001365308.1(BMPER):c.758A>G (p.Tyr253Cys)	BMPER (Y253C)	Single nucleotide variant (missense variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 911115	NM_001365308.1(BMPER):c.664C>T (p.Pro222Ser)	BMPER (P222S)	Single nucleotide variant (missense variant)	Diaphanospondylodysostosis +1 more	GConflicting classifications of pathogenicity
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 910221	NM_001365308.1(BMPER):c.403-13T>C	BMPER	Single nucleotide variant (intron 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 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 909251	NM_001365308.1(BMPER):c.*980T>C	BMPER	Single nucleotide variant (3 prime UTR variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 909250	NM_001365308.1(BMPER):c.*975G>A	BMPER	Single nucleotide variant (3 prime UTR variant)	Diaphanospondylodysostosis	GLikely benign
Select item 909249	NM_001365308.1(BMPER):c.*887G>A	BMPER	Single nucleotide variant (3 prime UTR variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 909184	NM_001365308.1(BMPER):c.1963T>C (p.Cys655Arg)	BMPER (C655R)	Single nucleotide variant (missense variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 909183	NM_001365308.1(BMPER):c.1906G>A (p.Asp636Asn)	BMPER (D636N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 909182	NM_001365308.1(BMPER):c.1902G>C (p.Val634=)	BMPER	Single nucleotide variant (synonymous variant)	Diaphanospondylodysostosis +1 more	GConflicting classifications of pathogenicity
Select item 908473	NM_001365308.1(BMPER):c.*2309G>A	BMPER	Single nucleotide variant (3 prime UTR variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 908402	NM_001365308.1(BMPER):c.*726C>T	BMPER	Single nucleotide variant (3 prime UTR variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 908401	NM_001365308.1(BMPER):c.*699C>T	BMPER	Single nucleotide variant (3 prime UTR variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 908400	NM_001365308.1(BMPER):c.*658T>C	BMPER	Single nucleotide variant (3 prime UTR variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 908340	NM_001365308.1(BMPER):c.1514G>A (p.Arg505His)	BMPER (R505H)	Single nucleotide variant (missense variant)	Diaphanospondylodysostosis +2 more	GUncertain significance
Select item 908339	NM_001365308.1(BMPER):c.1481G>C (p.Cys494Ser)	BMPER (C494S)	Single nucleotide variant (missense variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 908338	NM_001365308.1(BMPER):c.1471G>A (p.Gly491Ser)	BMPER (G491S)	Single nucleotide variant (missense variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 791539	NM_001365308.1(BMPER):c.1974G>A (p.Pro658=)	BMPER	Single nucleotide variant (synonymous variant)	Diaphanospondylodysostosis +1 more	GConflicting classifications of pathogenicity
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 632002	NM_001365308.1(BMPER):c.816C>A (p.Cys272Ter)	BMPER (C272*)	Single nucleotide variant (nonsense)	Diaphanospondylodysostosis +1 more	GConflicting classifications of pathogenicity
Select item 587513	NM_001365308.1(BMPER):c.1115A>G (p.Tyr372Cys)	BMPER (Y372C)	Single nucleotide variant (missense variant)	Diaphanospondylodysostosis	GUncertain significance
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 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 389174	NM_001365308.1(BMPER):c.1087G>A (p.Val363Ile)	BMPER (V363I)	Single nucleotide variant (missense variant)	Diaphanospondylodysostosis +1 more	GBenign
Select item 360154	NM_001365308.1(BMPER):c.*2277T>G	BMPER	Single nucleotide variant (3 prime UTR variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 360153	NM_001365308.1(BMPER):c.*2218C>T	BMPER	Single nucleotide variant (3 prime UTR variant)	Diaphanospondylodysostosis	GBenign
Select item 360152	NM_001365308.1(BMPER):c.*2170A>G	BMPER	Single nucleotide variant (3 prime UTR variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 360151	NM_001365308.1(BMPER):c.*2100C>A	BMPER	Single nucleotide variant (3 prime UTR variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 360150	NM_001365308.1(BMPER):c.*2067A>T	BMPER	Single nucleotide variant (3 prime UTR variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 360149	NM_001365308.1(BMPER):c.*1929dup	BMPER	Duplication (3 prime UTR variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 360148	NM_001365308.1(BMPER):c.*1878C>G	BMPER	Single nucleotide variant (3 prime UTR variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 360147	NM_001365308.1(BMPER):c.*1703C>T	BMPER	Single nucleotide variant (3 prime UTR variant)	Diaphanospondylodysostosis	GBenign
Select item 360146	NM_001365308.1(BMPER):c.*1667G>C	BMPER	Single nucleotide variant (3 prime UTR variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 360145	NM_001365308.1(BMPER):c.*1554A>C	BMPER	Single nucleotide variant (3 prime UTR variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 360144	NM_001365308.1(BMPER):c.*1484del	BMPER	Deletion (3 prime UTR variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 360143	NM_001365308.1(BMPER):c.1482_1483del	BMPER	Deletion (3 prime UTR variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 360142	NM_001365308.1(BMPER):c.*1424A>G	BMPER	Single nucleotide variant (3 prime UTR variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 360141	NM_001365308.1(BMPER):c.*1411G>A	BMPER	Single nucleotide variant (3 prime UTR variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 360140	NM_001365308.1(BMPER):c.*1396A>G	BMPER	Single nucleotide variant (3 prime UTR variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 360139	NM_001365308.1(BMPER):c.*1262C>T	BMPER	Single nucleotide variant (3 prime UTR variant)	Diaphanospondylodysostosis	GBenign
Select item 360138	NM_001365308.1(BMPER):c.*1217A>G	BMPER	Single nucleotide variant (3 prime UTR variant)	Diaphanospondylodysostosis	GBenign
Select item 360137	NM_001365308.1(BMPER):c.*1163C>T	BMPER	Single nucleotide variant (3 prime UTR variant)	Diaphanospondylodysostosis	GLikely benign
Select item 360136	NM_001365308.1(BMPER):c.*1071A>G	BMPER	Single nucleotide variant (3 prime UTR variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 360135	NM_001365308.1(BMPER):c.*1067C>T	BMPER	Single nucleotide variant (3 prime UTR variant)	Diaphanospondylodysostosis	GBenign
Select item 360134	NM_001365308.1(BMPER):c.*767C>T	BMPER	Single nucleotide variant (3 prime UTR variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 360133	NM_001365308.1(BMPER):c.*704A>G	BMPER	Single nucleotide variant (3 prime UTR variant)	Diaphanospondylodysostosis	GBenign
Select item 360132	NM_001365308.1(BMPER):c.*678G>T	BMPER	Single nucleotide variant (3 prime UTR variant)	Diaphanospondylodysostosis	GBenign
Select item 360131	NM_001365308.1(BMPER):c.*678G>A	BMPER	Single nucleotide variant (3 prime UTR variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 360130	NM_001365308.1(BMPER):c.*677C>T	BMPER	Single nucleotide variant (3 prime UTR variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 360129	NM_001365308.1(BMPER):c.*617G>A	BMPER	Single nucleotide variant (3 prime UTR variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 360128	NM_001365308.1(BMPER):c.*609G>A	BMPER	Single nucleotide variant (3 prime UTR variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 360127	NM_001365308.1(BMPER):c.*564T>C	BMPER	Single nucleotide variant (3 prime UTR variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 360126	NM_001365308.1(BMPER):c.*522G>A	BMPER	Single nucleotide variant (3 prime UTR variant)	Diaphanospondylodysostosis	GBenign
Select item 360125	NM_001365308.1(BMPER):c.*384T>G	BMPER	Single nucleotide variant (3 prime UTR variant)	Diaphanospondylodysostosis	GBenign
Select item 360124	NM_001365308.1(BMPER):c.*278T>C	BMPER	Single nucleotide variant (3 prime UTR variant)	Diaphanospondylodysostosis	GBenign
Select item 360123	NM_001365308.1(BMPER):c.*126TA[7]	BMPER	Microsatellite (3 prime UTR variant)	not provided +1 more	GBenign
Select item 360122	NM_001365308.1(BMPER):c.123_128del	BMPER	Deletion (3 prime UTR variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 360121	NM_001365308.1(BMPER):c.*52C>T	BMPER	Single nucleotide variant (3 prime UTR variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 360120	NM_001365308.1(BMPER):c.*11G>A	BMPER	Single nucleotide variant (3 prime UTR variant)	Diaphanospondylodysostosis	GBenign
Select item 360119	NM_001365308.1(BMPER):c.1978G>A (p.Val660Ile)	BMPER (V660I)	Single nucleotide variant (missense variant)	Diaphanospondylodysostosis +2 more	GConflicting classifications of pathogenicity
Select item 360118	NM_001365308.1(BMPER):c.1935G>C (p.Thr645=)	BMPER	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 360117	NM_001365308.1(BMPER):c.1927A>T (p.Ile643Phe)	BMPER (I643F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 360116	NM_001365308.1(BMPER):c.1818C>A (p.Thr606=)	BMPER	Single nucleotide variant (synonymous variant)	Diaphanospondylodysostosis +1 more	GConflicting classifications of pathogenicity
Select item 360115	NM_001365308.1(BMPER):c.1797C>T (p.Cys599=)	BMPER	Single nucleotide variant (synonymous variant)	Diaphanospondylodysostosis +1 more	GBenign/Likely benign
Select item 360114	NM_001365308.1(BMPER):c.1724T>C (p.Val575Ala)	BMPER (V575A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 360113	NM_001365308.1(BMPER):c.1663C>T (p.Arg555Trp)	BMPER (R555W)	Single nucleotide variant (missense variant)	Diaphanospondylodysostosis +2 more	GBenign/Likely benign
Select item 360112	NM_001365308.1(BMPER):c.1461G>T (p.Pro487=)	BMPER	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 360111	NM_001365308.1(BMPER):c.1460C>T (p.Pro487Leu)	BMPER (P487L)	Single nucleotide variant (missense variant)	Diaphanospondylodysostosis +1 more	GUncertain significance
Select item 360110	NM_001365308.1(BMPER):c.1323C>T (p.Asn441=)	BMPER	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 360109	NM_001365308.1(BMPER):c.1248G>A (p.Ser416=)	BMPER	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 360108	NM_001365308.1(BMPER):c.1207G>A (p.Val403Met)	BMPER (V403M)	Single nucleotide variant (missense variant)	Diaphanospondylodysostosis +1 more	GUncertain significance
Select item 360107	NM_001365308.1(BMPER):c.1086C>T (p.Gly362=)	BMPER	Single nucleotide variant (synonymous variant)	Diaphanospondylodysostosis +1 more	GBenign
Select item 360106	NM_001365308.1(BMPER):c.1003C>A (p.Gln335Lys)	BMPER (Q335K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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