16999[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154690	GRCh38/hg38 11q11-12.1(chr11:55319519-58998777)x3	APLNR, BTBD18 +147 more	Copy number gain	See cases	GPathogenic
Select item 58162	GRCh38/hg38 11q12.1(chr11:57372226-57936167)x3	LOC130005708, LOC130005709 +48 more	Copy number gain	See cases	GUncertain significance
Select item 512573	NM_006831.3(CLP1):c.-34C>T	CLP1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 514937	NM_006831.3(CLP1):c.-23+14dup	CLP1	Duplication (intron variant)	not specified	GLikely benign
Select item 1183423	NM_006831.3(CLP1):c.-22-216A>G	CLP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1946556	NM_006831.3(CLP1):c.12G>A (p.Glu4=)	CLP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2231276	NM_006831.3(CLP1):c.48A>C (p.Glu16Asp)	CLP1 (E16D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2845837	NM_006831.3(CLP1):c.49C>A (p.Leu17Ile)	CLP1 (L17I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804783	NM_006831.3(CLP1):c.55C>T (p.Arg19Ter)	CLP1 (R19*)	Single nucleotide variant (nonsense)	Pontoneocerebellar hypoplasia	GLikely pathogenic
Select item 1942648	NM_006831.3(CLP1):c.90T>A (p.Ser30=)	CLP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2422061	NM_006831.3(CLP1):c.103T>C (p.Leu35=)	CLP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 726882	NM_006831.3(CLP1):c.126A>G (p.Ala42=)	CLP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1967935	NM_006831.3(CLP1):c.151C>A (p.Arg51=)	CLP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1032495	NM_006831.3(CLP1):c.159_161del (p.Lys54del)	CLP1 (K54del)	Deletion (inframe_deletion)	Pontocerebellar hypoplasia type 10	GUncertain significance
Select item 2891277	NM_006831.3(CLP1):c.177_178delinsCT (p.Gly60Cys)	CLP1 (G60C)	Indel (missense variant)	not provided	GUncertain significance
Select item 1030159	NM_006831.3(CLP1):c.178G>T (p.Gly60Cys)	CLP1 (G60C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2835630	NM_006831.3(CLP1):c.228C>T (p.Ser76=)	CLP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2044997	NM_006831.3(CLP1):c.229G>A (p.Gly77Ser)	CLP1 (G77S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1446127	NM_006831.3(CLP1):c.232C>T (p.Arg78Cys)	CLP1 (R78C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2055712	NM_006831.3(CLP1):c.284A>G (p.Asn95Ser)	CLP1 (N95S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2440148	NM_006831.3(CLP1):c.293C>G (p.Thr98Arg)	CLP1 (T98R)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 10	GUncertain significance
Select item 754199	NM_006831.3(CLP1):c.294A>G (p.Thr98=)	CLP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2063876	NM_006831.3(CLP1):c.310C>T (p.Arg104Trp)	CLP1 (R104W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1030160	NM_006831.3(CLP1):c.310C>G (p.Arg104Gly)	CLP1 (R104G)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 10	GUncertain significance
Select item 1938315	NM_006831.3(CLP1):c.320C>T (p.Ala107Val)	CLP1 (A107V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2890311	NM_006831.3(CLP1):c.321G>A (p.Ala107=)	CLP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2184934	NM_006831.3(CLP1):c.347G>A (p.Arg116Gln)	CLP1 (R116Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 713952	NM_006831.3(CLP1):c.351G>A (p.Val117=)	CLP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2238976	NM_006831.3(CLP1):c.386C>T (p.Thr129Ile)	CLP1 (T129I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1431590	NM_006831.3(CLP1):c.395G>A (p.Arg132His)	CLP1 (R132H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1948140	NM_006831.3(CLP1):c.396C>T (p.Arg132=)	CLP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2230046	NM_006831.3(CLP1):c.397C>G (p.Leu133Val)	CLP1 (L133V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1503689	NM_006831.3(CLP1):c.412G>A (p.Ala138Thr)	CLP1 (A138T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1686575	NM_006831.3(CLP1):c.413C>T (p.Ala138Val)	CLP1 (A138V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 143934	NM_006831.3(CLP1):c.419G>A (p.Arg140His)	CLP1 (R140H)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia type 10 +1 more	GPathogenic/Likely pathogenic
Select item 1030161	NM_006831.3(CLP1):c.422T>A (p.Leu141Ter)	CLP1 (L141*)	Single nucleotide variant (nonsense +1 more)	Pontocerebellar hypoplasia type 10	GUncertain significance
Select item 1030162	NM_006831.3(CLP1):c.427C>T (p.Arg143Cys)	CLP1 (R143C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2976624	NM_006831.3(CLP1):c.428G>A (p.Arg143His)	CLP1 (R143H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 741458	NM_006831.3(CLP1):c.444G>A (p.Val148=)	CLP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1495417	NM_006831.3(CLP1):c.486C>G (p.Thr162=)	CLP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2068343	NM_006831.3(CLP1):c.523G>A (p.Glu175Lys)	CLP1 (E175K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1406843	NM_006831.3(CLP1):c.529G>A (p.Gly177Ser)	CLP1 (G177S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 391528	NM_006831.3(CLP1):c.552G>C (p.Leu184=)	CLP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2303109	NM_006831.3(CLP1):c.587A>T (p.Asn196Ile)	CLP1 (N196I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 712080	NM_006831.3(CLP1):c.597T>C (p.Leu199=)	CLP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1533935	NM_006831.3(CLP1):c.606+12A>G	CLP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 668099	NM_006831.3(CLP1):c.607-282T>C	CLP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1530123	NM_006831.3(CLP1):c.607-20C>T	CLP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2011000	NM_006831.3(CLP1):c.607-4G>T	CLP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 422519	NM_006831.3(CLP1):c.644G>A (p.Cys215Tyr)	CLP1 (C215Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 508038	NM_006831.3(CLP1):c.650T>C (p.Val217Ala)	CLP1 (V217A +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 2072241	NM_006831.3(CLP1):c.656G>A (p.Arg219Gln)	CLP1 (R155Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 754543	NM_006831.3(CLP1):c.696C>T (p.Gly232=)	CLP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 521693	NM_006831.3(CLP1):c.751G>A (p.Val251Met)	CLP1 (V251M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2891123	NM_006831.3(CLP1):c.759C>T (p.Val253=)	CLP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1896432	NM_006831.3(CLP1):c.762T>C (p.Val254=)	CLP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2604648	NM_006831.3(CLP1):c.769C>G (p.Leu257Val)	CLP1 (L257V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2503502	NM_006831.3(CLP1):c.784C>G (p.Leu262Val)	CLP1 (L198V +1 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 10	GUncertain significance
Select item 2177133	NM_006831.3(CLP1):c.789C>T (p.Tyr263=)	CLP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 388996	NM_006831.3(CLP1):c.798G>A (p.Leu266=)	CLP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1593739	NM_006831.3(CLP1):c.807C>T (p.Asp269=)	CLP1	Single nucleotide variant (synonymous variant)	CLP1-related disorder +1 more	GLikely benign
Select item 1570147	NM_006831.3(CLP1):c.813C>T (p.Pro271=)	CLP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2768076	NM_006831.3(CLP1):c.815A>G (p.His272Arg)	CLP1 (H208R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2886597	NM_006831.3(CLP1):c.823C>T (p.Arg275Cys)	CLP1 (R275C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3145948	NM_006831.3(CLP1):c.827C>T (p.Thr276Ile)	CLP1 (T212I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1570815	NM_006831.3(CLP1):c.832C>T (p.Leu278=)	CLP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 748786	NM_006831.3(CLP1):c.852T>G (p.Gly284=)	CLP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 420322	NM_006831.3(CLP1):c.862C>T (p.Arg288Cys)	CLP1 (R288C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1925771	NM_006831.3(CLP1):c.863G>A (p.Arg288His)	CLP1 (R224H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2826429	NM_006831.3(CLP1):c.878G>C (p.Arg293Pro)	CLP1 (R229P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1563393	NM_006831.3(CLP1):c.879G>C (p.Arg293=)	CLP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 380076	NM_006831.3(CLP1):c.898C>T (p.Arg300Cys)	CLP1 (R300C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1908584	NM_006831.3(CLP1):c.926G>A (p.Arg309Gln)	CLP1 (R309Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 753727	NM_006831.3(CLP1):c.948C>T (p.Ala316=)	CLP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 388997	NM_006831.3(CLP1):c.951C>T (p.Phe317=)	CLP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2696977	NM_006831.3(CLP1):c.959A>C (p.Lys320Thr)	CLP1 (K256T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2099562	NM_006831.3(CLP1):c.970G>A (p.Val324Met)	CLP1 (V260M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2695251	NM_006831.3(CLP1):c.982A>G (p.Lys328Glu)	CLP1 (K328E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2056841	NM_006831.3(CLP1):c.986T>C (p.Val329Ala)	CLP1 (V265A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2376902	NM_006831.3(CLP1):c.992C>T (p.Ala331Val)	CLP1 (A331V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2696329	NM_006831.3(CLP1):c.1021T>C (p.Leu341=)	CLP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2053840	NM_006831.3(CLP1):c.1071T>G (p.Pro357=)	CLP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 792188	NM_006831.3(CLP1):c.1110T>A (p.Thr370=)	CLP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1984255	NM_006831.3(CLP1):c.1113C>T (p.Ala371=)	CLP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1607473	NM_006831.3(CLP1):c.1137C>T (p.Ser379=)	CLP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 789622	NM_006831.3(CLP1):c.1141A>G (p.Thr381Ala)	CLP1 (T381A +1 more)	Single nucleotide variant (missense variant)	CLP1-related disorder +1 more	GLikely benign
Select item 2188868	NM_006831.3(CLP1):c.1156T>A (p.Phe386Ile)	CLP1 (F322I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2223869	NM_006831.3(CLP1):c.1160T>C (p.Ile387Thr)	CLP1 (I387T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2122022	NM_006831.3(CLP1):c.1165G>A (p.Val389Met)	CLP1 (V325M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1475111	NM_006831.3(CLP1):c.1172G>T (p.Ser391Ile)	CLP1 (S391I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1616345	NM_006831.3(CLP1):c.1197T>C (p.Phe399=)	CLP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2073192	NM_006831.3(CLP1):c.1201G>C (p.Val401Leu)	CLP1 (V401L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2585595	NM_006831.3(CLP1):c.1214C>T (p.Ala405Val)	CLP1 (A341V +1 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 10	GUncertain significance
Select item 1980198	NM_006831.3(CLP1):c.1245C>T (p.Leu415=)	CLP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2192064	NM_006831.3(CLP1):c.1258C>A (p.Arg420=)	CLP1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063212	GRCh37/hg19 11q12.1(chr11:57112299-57871866)x3	BTBD18, CLP1 +19 more	Copy number gain	not specified	GUncertain significance
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACCS, ACCSL +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic

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