ClinVar for MedGen (Select 376521) - ClinVar

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Items: 82

	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 2672245	NM_004820.5(CYP7B1):c.62del (p.Gly21fs)	CYP7B1 (G21fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 5A	GUncertain significance
Select item 2428781	NM_004820.5(CYP7B1):c.1162C>G (p.Arg388Gly)	CYP7B1 (R388G)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 5A	GLikely pathogenic
Select item 1339931	NM_001271803.2(REEP2):c.626C>G (p.Ala209Gly)	REEP2 (A207G +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 5A	Gnot provided
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 989029	NM_004820.5(CYP7B1):c.1193C>T (p.Pro398Leu)	CYP7B1 (P398L)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
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 989027	NM_004820.5(CYP7B1):c.1061G>A (p.Ser354Asn)	CYP7B1 (S354N)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 989026	NM_004820.5(CYP7B1):c.314dup (p.Asn105fs)	CYP7B1 (N105fs)	Duplication (frameshift variant)	Hereditary spastic paraplegia 5A +1 more	GPathogenic/Likely pathogenic
Select item 989025	NM_004820.5(CYP7B1):c.260-1G>A	CYP7B1	Single nucleotide variant (splice acceptor variant)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
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 962151	NM_004820.5(CYP7B1):c.1457G>A (p.Arg486His)	CYP7B1 (R486H)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia +2 more	GUncertain significance
Select item 942745	NM_004820.5(CYP7B1):c.961G>A (p.Glu321Lys)	CYP7B1 (E321K)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 942744	NM_004820.5(CYP7B1):c.1346G>A (p.Cys449Tyr)	CYP7B1 (C449Y)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 911348	NM_004820.5(CYP7B1):c.75C>A (p.Ala25=)	CYP7B1	Single nucleotide variant (synonymous variant)	Spastic paraplegia +2 more	GBenign/Likely benign
Select item 911144	NM_004820.5(CYP7B1):c.177C>A (p.Val59=)	CYP7B1	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 911143	NM_004820.5(CYP7B1):c.283G>T (p.Asp95Tyr)	CYP7B1 (D95Y)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 5A	GUncertain significance
Select item 910256	NM_004820.5(CYP7B1):c.757A>G (p.Lys253Glu)	CYP7B1 (K253E)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 910255	NM_004820.5(CYP7B1):c.830A>C (p.His277Pro)	CYP7B1 (H277P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 910254	NM_004820.5(CYP7B1):c.1044C>T (p.Ser348=)	CYP7B1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 5A	GUncertain significance
Select item 908370	NM_004820.5(CYP7B1):c.-144C>G	CYP7B1	Single nucleotide variant (5 prime UTR variant)	Hereditary spastic paraplegia 5A +1 more	GConflicting classifications of pathogenicity
Select item 908369	NM_004820.5(CYP7B1):c.-135G>A	CYP7B1	Single nucleotide variant (5 prime UTR variant)	Hereditary spastic paraplegia 5A	GUncertain significance
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 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 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 849738	NM_004820.5(CYP7B1):c.650dup (p.Leu217fs)	CYP7B1 (L217fs)	Duplication (frameshift variant)	Hereditary spastic paraplegia +2 more	GPathogenic/Likely pathogenic
Select item 807591	NM_004820.5(CYP7B1):c.1091C>T (p.Ser364Leu)	CYP7B1 (S364L)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 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)	Hereditary spastic paraplegia 5A +1 more	GUncertain significance
Select item 800517	NM_020533.3(MCOLN1):c.877G>A (p.Gly293Arg)	MCOLN1 (G293R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 5A	GUncertain significance
Select item 642794	NM_004820.5(CYP7B1):c.854A>T (p.His285Leu)	CYP7B1 (H285L)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 640715	NM_004820.5(CYP7B1):c.1202A>G (p.His401Arg)	CYP7B1 (H401R)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 595793	NM_004820.5(CYP7B1):c.101G>A (p.Cys34Tyr)	CYP7B1 (C34Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 587569	NM_004820.5(CYP7B1):c.955C>T (p.Arg319Cys)	CYP7B1 (R319C)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 586668	NM_004820.5(CYP7B1):c.1249C>T (p.Arg417Cys)	CYP7B1 (R417C)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia +2 more	GPathogenic
Select item 522918	NM_183075.3(CYP2U1):c.370C>T (p.His124Tyr)	CYP2U1, CYP2U1-AS1 (H124Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 5A	GUncertain significance
Select item 522897	NM_002860.4(ALDH18A1):c.2231C>G (p.Ser744Trp)	ALDH18A1 (S744W +5 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 5A +3 more	GConflicting classifications of pathogenicity
Select item 502522	NM_004820.5(CYP7B1):c.90C>T (p.Leu30=)	CYP7B1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 500781	NM_004820.5(CYP7B1):c.94G>T (p.Ala32Ser)	CYP7B1 (A32S)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 489179	NM_004820.5(CYP7B1):c.1354C>T (p.Arg452Ter)	CYP7B1 (R452*)	Single nucleotide variant (nonsense +1 more)	Spastic paraplegia +2 more	GPathogenic/Likely pathogenic
Select item 488846	NM_004820.5(CYP7B1):c.187C>T (p.Arg63Ter)	CYP7B1 (R63*)	Single nucleotide variant (nonsense)	Spastic paraplegia +2 more	GPathogenic
Select item 437458	NM_020944.3(GBA2):c.786+9C>A	GBA2	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 437457	NM_020944.3(GBA2):c.1495G>A (p.Glu499Lys)	GBA2 (E499K)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 5A +2 more	GUncertain significance
Select item 409026	NM_004820.5(CYP7B1):c.1286dup (p.Lys430fs)	CYP7B1 (K430fs)	Duplication (frameshift variant +1 more)	Spastic paraplegia +2 more	GPathogenic/Likely pathogenic
Select item 381743	NM_004820.5(CYP7B1):c.440G>A (p.Gly147Asp)	CYP7B1 (G147D)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 5A +2 more	GConflicting classifications of pathogenicity
Select item 363595	NM_004820.5(CYP7B1):c.-144C>T	CYP7B1	Single nucleotide variant (5 prime UTR variant)	Hereditary spastic paraplegia 5A	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
Select item 363590	NM_004820.5(CYP7B1):c.92T>A (p.Leu31Gln)	CYP7B1 (L31Q)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 5A +1 more	GUncertain significance
Select item 363588	NM_004820.5(CYP7B1):c.209T>A (p.Met70Lys)	CYP7B1 (M70K)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 5A	GUncertain significance
Select item 363587	NM_004820.5(CYP7B1):c.261A>G (p.Gly87=)	CYP7B1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 5A	GUncertain significance
Select item 363586	NM_004820.5(CYP7B1):c.349A>G (p.Lys117Glu)	CYP7B1 (K117E)	Single nucleotide variant (missense variant)	Spastic paraplegia +4 more	GUncertain significance
Select item 363585	NM_004820.5(CYP7B1):c.522T>C (p.Ser174=)	CYP7B1	Single nucleotide variant (synonymous variant)	Spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 363584	NM_004820.5(CYP7B1):c.929G>A (p.Arg310Gln)	CYP7B1 (R310Q)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GUncertain significance
Select item 363582	NM_004820.5(CYP7B1):c.971G>A (p.Arg324His)	CYP7B1 (R324H)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 363581	NM_004820.5(CYP7B1):c.1018C>T (p.His340Tyr)	CYP7B1 (H340Y)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 5A +1 more	GUncertain significance
Select item 363580	NM_004820.5(CYP7B1):c.1233G>A (p.Glu411=)	CYP7B1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 5A +1 more	GUncertain significance
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 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 363575	NM_004820.5(CYP7B1):c.*402A>T	CYP7B1	Single nucleotide variant (intron 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 288985	NM_004820.5(CYP7B1):c.125G>A (p.Arg42Lys)	CYP7B1 (R42K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 288705	NM_004820.5(CYP7B1):c.530C>T (p.Thr177Met)	CYP7B1 (T177M)	Single nucleotide variant (missense variant)	Congenital bile acid synthesis defect 3 +3 more	GConflicting classifications of pathogenicity
Select item 282111	NM_004820.5(CYP7B1):c.122+19A>T	CYP7B1	Single nucleotide variant (intron variant)	Spastic paraplegia +4 more	GBenign/Likely benign
Select item 225337	NM_004820.5(CYP7B1):c.259+2T>C	CYP7B1	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 5A +1 more	GPathogenic
Select item 220699	NM_004820.5(CYP7B1):c.204G>A (p.Arg68=)	CYP7B1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 5A +1 more	GConflicting classifications of pathogenicity
Select item 219384	NM_004820.5(CYP7B1):c.59C>T (p.Pro20Leu)	CYP7B1 (P20L)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 193293	NM_004820.5(CYP7B1):c.56T>C (p.Leu19Pro)	CYP7B1 (L19P)	Single nucleotide variant (missense variant)	Spastic paraplegia +4 more	GBenign
Select item 120179	NM_004820.5(CYP7B1):c.889A>G (p.Thr297Ala)	CYP7B1 (T297A)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 120178	NM_004820.5(CYP7B1):c.260G>T (p.Gly87Val)	CYP7B1 (G87V)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 31158	NM_031448.6(C19orf12):c.391A>G (p.Lys131Glu)	C19orf12 (K142E +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 5A +5 more	GConflicting classifications of pathogenicity
Select item 6107	NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys)	CYP7B1 (R486C)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 5A +4 more	GPathogenic/Likely pathogenic
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 6105	NM_004820.5(CYP7B1):c.825T>A (p.Tyr275Ter)	CYP7B1 (Y275*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 5A +3 more	GPathogenic
Select item 6104	NM_004820.5(CYP7B1):c.647T>C (p.Phe216Ser)	CYP7B1 (F216S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 5A	GPathogenic
Select item 6103	NM_004820.5(CYP7B1):c.1250G>A (p.Arg417His)	CYP7B1 (R417H)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 6102	NM_004820.5(CYP7B1):c.169G>A (p.Gly57Arg)	CYP7B1 (G57R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 5A	GPathogenic
Select item 6101	NM_004820.5(CYP7B1):c.1088C>T (p.Ser363Phe)	CYP7B1 (S363F)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 6100	NM_004820.5(CYP7B1):c.1162C>T (p.Arg388Ter)	CYP7B1 (R388*)	Single nucleotide variant (nonsense)	Spastic paraplegia +1 more	GPathogenic

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Items: 82