Related gene-specific medical variations for Gene (Select 9420) - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362478	NM_004820.5(CYP7B1):c.737T>A (p.Ile246Lys)	CYP7B1 (I246K)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 5A	GUncertain significance
Select item 3245415	NC_000008.10:g.(?_65509233)_(65510812_?)del	CYP7B1	Deletion	Spastic paraplegia	GPathogenic
Select item 3245414	NC_000008.10:g.(?_65509199)_(65509506_?)del	CYP7B1	Deletion	Spastic paraplegia	GPathogenic
Select item 3245413	NC_000008.10:g.(?_65527563)_(65527809_?)del	CYP7B1	Deletion	Spastic paraplegia	GPathogenic
Select item 2988040	NM_004820.5(CYP7B1):c.39G>A (p.Ser13=)	CYP7B1, LOC130000507	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2880767	NM_004820.5(CYP7B1):c.46C>A (p.Arg16=)	CYP7B1, LOC130000507	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2855957	NM_004820.5(CYP7B1):c.9A>G (p.Gly3=)	CYP7B1, LOC130000507	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2806918	NM_004820.5(CYP7B1):c.9A>T (p.Gly3=)	CYP7B1, LOC130000507	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2798828	NM_004820.5(CYP7B1):c.12A>G (p.Glu4=)	CYP7B1, LOC130000507	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2767995	NM_004820.5(CYP7B1):c.24C>T (p.Ala8=)	CYP7B1, LOC130000507	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2763242	NM_004820.5(CYP7B1):c.48G>C (p.Arg16=)	CYP7B1, LOC130000507	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2706428	NM_004820.5(CYP7B1):c.33C>T (p.Arg11=)	CYP7B1, LOC130000507	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2684017	NM_004820.5(CYP7B1):c.89T>G (p.Leu30Arg)	CYP7B1 (L30R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684016	NM_004820.5(CYP7B1):c.869T>C (p.Leu290Pro)	CYP7B1 (L290P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2672245	NM_004820.5(CYP7B1):c.62del (p.Gly21fs)	CYP7B1 (G21fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 5A	GUncertain significance
Select item 1494334	NM_004820.5(CYP7B1):c.8_10del (p.Gly3del)	CYP7B1, LOC130000507 (G3del)	Deletion (inframe_deletion)	Spastic paraplegia	GUncertain significance
Select item 1428987	NM_004820.5(CYP7B1):c.13G>C (p.Val5Leu)	CYP7B1, LOC130000507 (V5L)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1379472	NM_004820.5(CYP7B1):c.26C>T (p.Thr9Met)	CYP7B1, LOC130000507 (T9M)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 1322188	NM_004820.5(CYP7B1):c.1139C>G (p.Ser380Ter)	CYP7B1 (S380*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1026622	NM_004820.5(CYP7B1):c.11A>T (p.Glu4Val)	CYP7B1, LOC130000507 (E4V)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GUncertain significance
Select item 1023180	NM_004820.5(CYP7B1):c.23C>T (p.Ala8Val)	CYP7B1, LOC130000507 (A8V)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 989168	NM_004820.5(CYP7B1):c.1163G>A (p.Arg388Gln)	CYP7B1 (R388Q)	Single nucleotide variant (missense variant)	Spastic paraplegia	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 989028	NM_004820.5(CYP7B1):c.1168G>T (p.Gly390Ter)	CYP7B1 (G390*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 5A	GPathogenic
Select item 989024	NM_004820.5(CYP7B1):c.170G>C (p.Gly57Ala)	CYP7B1 (G57A)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 5A	GPathogenic
Select item 989023	NM_004820.5(CYP7B1):c.151G>C (p.Gly51Arg)	CYP7B1 (G51R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 5A	GPathogenic
Select item 989022	NM_004820.5(CYP7B1):c.67del (p.Ala23fs)	CYP7B1 (A23fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 5A	GPathogenic
Select item 987150	NM_004820.5(CYP7B1):c.1A>G (p.Met1Val)	CYP7B1, LOC130000507 (M1V)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 686690	GRCh37/hg19 8q12.3(chr8:65662657-65742312)x3	CYP7B1	Copy number gain	not provided	GUncertain significance
Select item 598140	NM_004820.5(CYP7B1):c.17C>G (p.Ser6Cys)	CYP7B1, LOC130000507 (S6C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 597954	NM_004820.5(CYP7B1):c.-2G>A	CYP7B1, LOC130000507	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 596565	NM_004820.5(CYP7B1):c.8G>A (p.Gly3Glu)	CYP7B1, LOC130000507 (G3E)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 595247	NM_004820.5(CYP7B1):c.19G>C (p.Ala7Pro)	CYP7B1, LOC130000507 (A7P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 518116	NM_004820.5(CYP7B1):c.51G>A (p.Leu17=)	CYP7B1, LOC130000507	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GLikely benign
Select item 501343	NM_004820.5(CYP7B1):c.32G>T (p.Arg11Leu)	CYP7B1, LOC130000507 (R11L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 363594	NM_004820.5(CYP7B1):c.-99G>C	CYP7B1, LOC130000508	Single nucleotide variant (5 prime UTR variant)	Hereditary spastic paraplegia 5A	GUncertain significance
Select item 363593	NM_004820.5(CYP7B1):c.-89C>G	CYP7B1, LOC130000508	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 363592	NM_004820.5(CYP7B1):c.-73A>C	CYP7B1, LOC130000508	Single nucleotide variant (5 prime UTR variant)	Hereditary spastic paraplegia 5A	GUncertain significance
Select item 363591	NM_004820.5(CYP7B1):c.-11G>A	CYP7B1, LOC130000507	Single nucleotide variant (5 prime UTR variant)	Hereditary spastic paraplegia 5A	GUncertain significance

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Links from Gene

Items: 39