CYP7B1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000156, LOC130000157 +3106 more	Copy number gain	See cases	GPathogenic
Select item 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	ADHFE1, ALKAL1 +489 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LINC02894, LINC02906 +1960 more	Copy number gain	See cases	GPathogenic
Select item 148601	GRCh38/hg38 8q12.1-12.3(chr8:55315854-64952752)x3	ASPH, BHLHE22 +222 more	Copy number gain	See cases	GPathogenic
Select item 59787	GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3	LOC130000438, LOC130000439 +421 more	Copy number gain	See cases	GPathogenic
Select item 145461	GRCh38/hg38 8q12.1-13.1(chr8:60519222-66659025)x3	ADHFE1, ARMC1 +150 more	Copy number gain	See cases	GPathogenic
Select item 144167	GRCh38/hg38 8q12.2-13.1(chr8:60816393-65117062)x1	ASPH, BHLHE22 +79 more	Copy number loss	See cases	GPathogenic
Select item 59788	GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3	ADHFE1, ARFGEF1 +417 more	Copy number gain	See cases	GPathogenic
Select item 60364	GRCh38/hg38 8q12.3-21.11(chr8:62230636-73227786)x1	ADHFE1, ARFGEF1 +228 more	Copy number loss	See cases	GPathogenic
Select item 147490	GRCh38/hg38 8q12.3(chr8:64079639-64886541)x1	BHLHE22, BHLHE22-AS1 +12 more	Copy number loss	See cases	GUncertain significance
Select item 3029639	NM_001324112.2(CYP7B1):c.1278G>A (p.Glu426=)	CYP7B1	Single nucleotide variant (synonymous variant)	CYP7B1-related disorder	GLikely benign
Select item 3033706	NM_001324112.2(CYP7B1):c.1262G>A (p.Gly421Glu)	CYP7B1 (G421E)	Single nucleotide variant (missense variant)	CYP7B1-related disorder	GLikely benign
Select item 908300	NM_004820.5(CYP7B1):c.*575T>G	CYP7B1	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia 5A	GUncertain significance
Select item 363574	NM_004820.5(CYP7B1):c.*529A>G	CYP7B1	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia 5A	GBenign
Select item 363575	NM_004820.5(CYP7B1):c.*402A>T	CYP7B1	Single nucleotide variant (intron variant +1 more)	Hereditary spastic paraplegia 5A	GUncertain significance
Select item 363576	NM_004820.5(CYP7B1):c.*337T>G	CYP7B1	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 363577	NM_004820.5(CYP7B1):c.*111G>A	CYP7B1	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia 5A	GUncertain significance
Select item 908301	NM_004820.5(CYP7B1):c.*49C>T	CYP7B1	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia 5A +1 more	GBenign/Likely benign
Select item 908302	NM_004820.5(CYP7B1):c.*11A>G	CYP7B1	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia 5A	GUncertain significance
Select item 287111	NM_004820.5(CYP7B1):c.1507A>G (p.Lys503Glu)	CYP7B1 (K503E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1306314	NM_004820.5(CYP7B1):c.1505A>G (p.Tyr502Cys)	CYP7B1 (Y502C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 772235	NM_004820.5(CYP7B1):c.1497A>G (p.Leu499=)	CYP7B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2193038	NM_004820.5(CYP7B1):c.1485T>A (p.Asp495Glu)	CYP7B1 (D495E)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 1429549	NM_004820.5(CYP7B1):c.1481C>T (p.Pro494Leu)	CYP7B1 (P494L)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 1046138	NM_004820.5(CYP7B1):c.1481C>A (p.Pro494Gln)	CYP7B1 (P494Q)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 598037	NM_004820.5(CYP7B1):c.1476G>A (p.Gln492=)	CYP7B1	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 1524063	NM_004820.5(CYP7B1):c.1474C>T (p.Gln492Ter)	CYP7B1 (Q492*)	Single nucleotide variant (nonsense +1 more)	Spastic paraplegia	GUncertain significance
Select item 1062115	NM_004820.5(CYP7B1):c.1468G>T (p.Gly490Cys)	CYP7B1 (G490C)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 501900	NM_004820.5(CYP7B1):c.1464G>A (p.Leu488=)	CYP7B1	Single nucleotide variant (intron variant +1 more)	Spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 759586	NM_004820.5(CYP7B1):c.1461G>A (p.Leu487=)	CYP7B1	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 597177	NM_004820.5(CYP7B1):c.1461G>T (p.Leu487Phe)	CYP7B1 (L487F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 498356	NM_004820.5(CYP7B1):c.1460dup (p.Leu487fs)	CYP7B1 (L487fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 962151	NM_004820.5(CYP7B1):c.1457G>A (p.Arg486His)	CYP7B1 (R486H)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 5A +2 more	GUncertain significance
Select item 426732	NM_004820.5(CYP7B1):c.1456C>A (p.Arg486Ser)	CYP7B1 (R486S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 6107	NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys)	CYP7B1 (R486C)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia +5 more	GPathogenic/Likely pathogenic
Select item 2919320	NM_004820.5(CYP7B1):c.1452C>T (p.Tyr484=)	CYP7B1	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2428123	NM_004820.5(CYP7B1):c.1449C>T (p.Asn483=)	CYP7B1	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2150769	NM_004820.5(CYP7B1):c.1442G>T (p.Gly481Val)	CYP7B1 (G481V)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 1435396	NM_004820.5(CYP7B1):c.1441G>A (p.Gly481Arg)	CYP7B1 (G481R)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 594753	NM_004820.5(CYP7B1):c.1439T>C (p.Ile480Thr)	CYP7B1 (I480T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1051718	NM_004820.5(CYP7B1):c.1438A>G (p.Ile480Val)	CYP7B1 (I480V)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2732185	NM_004820.5(CYP7B1):c.1437C>T (p.Pro479=)	CYP7B1	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2849509	NM_004820.5(CYP7B1):c.1434G>A (p.Lys478=)	CYP7B1	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 943265	NM_004820.5(CYP7B1):c.1430A>G (p.Asp477Gly)	CYP7B1 (D477G)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 1306365	NM_004820.5(CYP7B1):c.1409T>C (p.Phe470Ser)	CYP7B1 (F470S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 6106	NM_004820.5(CYP7B1):c.1408T>A (p.Phe470Ile)	CYP7B1 (F470I)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 5A	GPathogenic
Select item 3020516	NM_004820.5(CYP7B1):c.1407T>C (p.Tyr469=)	CYP7B1	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2915441	NM_004820.5(CYP7B1):c.1403del (p.Thr468fs)	CYP7B1 (T468fs)	Deletion (frameshift variant +1 more)	Spastic paraplegia	GPathogenic
Select item 2326124	NM_004820.5(CYP7B1):c.1403C>T (p.Thr468Ile)	CYP7B1 (T468I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1397327	NM_004820.5(CYP7B1):c.1400T>C (p.Leu467Ser)	CYP7B1 (L467S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1937306	NM_004820.5(CYP7B1):c.1390G>A (p.Val464Ile)	CYP7B1 (V464I)	Single nucleotide variant (intron variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 3014028	NM_004820.5(CYP7B1):c.1389G>A (p.Leu463=)	CYP7B1	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 1486637	NM_004820.5(CYP7B1):c.1383A>G (p.Gln461=)	CYP7B1	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 594396	NM_004820.5(CYP7B1):c.1376T>C (p.Ile459Thr)	CYP7B1 (I459T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1364200	NM_004820.5(CYP7B1):c.1371G>A (p.Met457Ile)	CYP7B1 (M457I)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2709877	NM_004820.5(CYP7B1):c.1365A>C (p.Ala455=)	CYP7B1	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 458229	NM_004820.5(CYP7B1):c.1355G>A (p.Arg452Gln)	CYP7B1 (R452Q)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 489179	NM_004820.5(CYP7B1):c.1354C>T (p.Arg452Ter)	CYP7B1 (R452*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2805536	NM_004820.5(CYP7B1):c.1342_1353del (p.Lys448_Gly451del)	CYP7B1	Deletion (intron variant +1 more)	Spastic paraplegia	GPathogenic
Select item 942744	NM_004820.5(CYP7B1):c.1346G>A (p.Cys449Tyr)	CYP7B1 (C449Y)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GPathogenic
Select item 2821576	NM_004820.5(CYP7B1):c.1344A>G (p.Lys448=)	CYP7B1	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2749839	NM_004820.5(CYP7B1):c.1332T>C (p.Thr444=)	CYP7B1	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 624329	NM_004820.5(CYP7B1):c.1328G>C (p.Gly443Ala)	CYP7B1 (G443A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2816691	NM_004820.5(CYP7B1):c.1326T>C (p.Phe442=)	CYP7B1	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 1556447	NM_004820.5(CYP7B1):c.1323G>T (p.Pro441=)	CYP7B1	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 363578	NM_004820.5(CYP7B1):c.1323G>A (p.Pro441=)	CYP7B1	Single nucleotide variant (synonymous variant +1 more)	Congenital bile acid synthesis defect +2 more	GConflicting classifications of pathogenicity
Select item 800518	NM_004820.5(CYP7B1):c.1322C>T (p.Pro441Leu)	CYP7B1 (P441L)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia +1 more	GUncertain significance
Select item 989030	NM_004820.5(CYP7B1):c.1311_1316delinsAGAA (p.Cys437_Leu439delinsTer)	CYP7B1	Indel (nonsense +1 more)	Hereditary spastic paraplegia 5A	GPathogenic
Select item 363579	NM_004820.5(CYP7B1):c.1310G>A (p.Cys437Tyr)	CYP7B1 (C437Y)	Single nucleotide variant (missense variant +1 more)	Congenital bile acid synthesis defect +2 more	GUncertain significance
Select item 1344280	NM_004820.5(CYP7B1):c.1309T>G (p.Cys437Gly)	CYP7B1 (C437G)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344279	NM_004820.5(CYP7B1):c.1304T>C (p.Leu435Pro)	CYP7B1 (L435P)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 2683022	NM_004820.5(CYP7B1):c.1297A>G (p.Lys433Glu)	CYP7B1 (K433E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2842125	NM_004820.5(CYP7B1):c.1290_1291del (p.Gly432fs)	CYP7B1 (G432fs)	Deletion (intron variant +1 more)	Spastic paraplegia	GPathogenic
Select item 2836565	NM_004820.5(CYP7B1):c.1291A>C (p.Arg431=)	CYP7B1	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 409026	NM_004820.5(CYP7B1):c.1286dup (p.Lys430fs)	CYP7B1 (K430fs)	Duplication (frameshift variant +1 more)	Hereditary spastic paraplegia 5A +2 more	GPathogenic/Likely pathogenic
Select item 2875581	NM_004820.5(CYP7B1):c.1266dup (p.Lys423Ter)	CYP7B1 (K423*)	Duplication (nonsense +1 more)	Spastic paraplegia	GPathogenic
Select item 2740701	NM_004820.5(CYP7B1):c.1263T>C (p.Asp421=)	CYP7B1	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2897028	NM_004820.5(CYP7B1):c.1260A>G (p.Glu420=)	CYP7B1	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 593447	NM_004820.5(CYP7B1):c.1256T>C (p.Ile419Thr)	CYP7B1 (I419T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2109081	NM_004820.5(CYP7B1):c.1254del (p.Phe418fs)	CYP7B1 (F418fs)	Deletion (intron variant +1 more)	Spastic paraplegia	GPathogenic
Select item 6103	NM_004820.5(CYP7B1):c.1250G>A (p.Arg417His)	CYP7B1 (R417H)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia +4 more	GPathogenic/Likely pathogenic
Select item 586668	NM_004820.5(CYP7B1):c.1249C>T (p.Arg417Cys)	CYP7B1 (R417C)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic
Select item 447232	NM_004820.5(CYP7B1):c.1246_1248del (p.Asp416del)	CYP7B1 (D416del)	Deletion (inframe_deletion +1 more)	not specified	GUncertain significance
Select item 1430929	NM_004820.5(CYP7B1):c.1234G>A (p.Glu412Lys)	CYP7B1 (E412K)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2780438	NM_004820.5(CYP7B1):c.1234-2A>G	CYP7B1	Single nucleotide variant (splice acceptor variant +1 more)	Spastic paraplegia	GPathogenic
Select item 2985070	NM_004820.5(CYP7B1):c.1234-6T>A	CYP7B1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2906633	NM_004820.5(CYP7B1):c.1234-6T>G	CYP7B1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 1654115	NM_004820.5(CYP7B1):c.1234-8C>T	CYP7B1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2849576	NM_004820.5(CYP7B1):c.1234-10T>G	CYP7B1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2154529	NM_004820.5(CYP7B1):c.1234-14A>G	CYP7B1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 1216136	NM_004820.5(CYP7B1):c.1234-34A>G	CYP7B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272353	NM_004820.5(CYP7B1):c.1234-99_1234-88del	CYP7B1	Deletion (intron variant)	not provided	GBenign
Select item 1293048	NM_004820.5(CYP7B1):c.1234-208C>T	CYP7B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182227	NM_004820.5(CYP7B1):c.1233+70C>T	CYP7B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2002804	NM_004820.5(CYP7B1):c.1233+16G>C	CYP7B1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign

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