Related gene-specific medical variations for Gene (Select 1581) - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3379821	NM_000780.4(CYP7A1):c.1126G>A (p.Asp376Asn)	CYP7A1, LOC126860400 (D376N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3344500	NM_000780.4(CYP7A1):c.1176G>A (p.Gln392=)	CYP7A1, LOC126860400	Single nucleotide variant (synonymous variant)	CYP7A1-related disorder	GLikely benign
Select item 3079764	NM_000780.4(CYP7A1):c.1204C>A (p.Pro402Thr)	CYP7A1, LOC126860400 (P402T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079763	NM_000780.4(CYP7A1):c.1172C>T (p.Pro391Leu)	CYP7A1, LOC126860400 (P391L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3061196	NM_000780.4(CYP7A1):c.24G>T (p.Trp8Cys)	CYP7A1, LOC110596866 (W8C)	Single nucleotide variant (missense variant)	CYP7A1-related disorder	GUncertain significance
Select item 3030397	NM_000780.4(CYP7A1):c.1164T>C (p.Ala388=)	CYP7A1, LOC126860400	Single nucleotide variant (synonymous variant)	CYP7A1-related disorder	GLikely benign
Select item 3008855	NM_000780.4(CYP7A1):c.1100A>T (p.Lys367Met)	CYP7A1, LOC126860400 (K367M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985706	NM_000780.4(CYP7A1):c.1224A>G (p.Lys408=)	CYP7A1, LOC126860400	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980751	NM_000780.4(CYP7A1):c.81-18T>C	CYP7A1, LOC110596866	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2779151	NM_000780.4(CYP7A1):c.1066C>T (p.Leu356Phe)	CYP7A1, LOC126860400 (L356F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2776278	NM_000780.4(CYP7A1):c.1229A>G (p.Asp410Gly)	CYP7A1, LOC126860400 (D410G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2635773	NM_000780.4(CYP7A1):c.1090C>T (p.Arg364Trp)	CYP7A1, LOC126860400 (R364W)	Single nucleotide variant (missense variant)	CYP7A1-related disorder	GUncertain significance
Select item 2575976	NM_000780.4(CYP7A1):c.224A>G (p.Tyr75Cys)	CYP7A1 (Y75C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2247053	NM_000780.4(CYP7A1):c.1214T>G (p.Leu405Trp)	CYP7A1, LOC126860400 (L405W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2078522	NM_000780.4(CYP7A1):c.1119C>G (p.His373Gln)	CYP7A1, LOC126860400 (H373Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2055990	NM_000780.4(CYP7A1):c.12A>G (p.Thr4=)	CYP7A1, LOC110596866	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1926883	NM_000780.4(CYP7A1):c.1081C>G (p.Leu361Val)	CYP7A1, LOC126860400 (L361V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1627992	NM_000780.4(CYP7A1):c.87G>A (p.Thr29=)	CYP7A1, LOC110596866	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1541598	NM_000780.4(CYP7A1):c.1215+13C>T	CYP7A1, LOC126860400	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1514946	NM_000780.4(CYP7A1):c.1175A>G (p.Gln392Arg)	CYP7A1, LOC126860400 (Q392R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1316899	NM_000780.4(CYP7A1):c.1216-163G>A	CYP7A1, LOC126860400	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316704	NM_000780.4(CYP7A1):c.1040-17del	CYP7A1, LOC126860400	Deletion (intron variant)	not provided	GBenign/Likely benign
Select item 1244824	NM_000780.4(CYP7A1):c.81-14C>T	CYP7A1, LOC110596866	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235467	NM_000780.4(CYP7A1):c.1216-108T>C	CYP7A1, LOC126860400	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232506	NM_000780.4(CYP7A1):c.1216-13A>G	CYP7A1, LOC126860400	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 714151	NM_000780.4(CYP7A1):c.81-6T>C	CYP7A1, LOC110596866	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 597579	NM_000780.4(CYP7A1):c.25G>A (p.Gly9Arg)	CYP7A1, LOC110596866 (G9R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 596775	NM_000780.4(CYP7A1):c.1215+8C>T	CYP7A1, LOC126860400	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 594809	NM_000780.4(CYP7A1):c.1091G>A (p.Arg364Gln)	CYP7A1, LOC126860400 (R364Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 594297	NM_000780.4(CYP7A1):c.1077C>T (p.Ala359=)	CYP7A1, LOC126860400	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 501506	NM_000780.4(CYP7A1):c.1215+3A>G	CYP7A1, LOC126860400	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 501418	NM_000780.4(CYP7A1):c.1129G>A (p.Gly377Ser)	LOC126860400, CYP7A1 (G377S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 497786	NM_000780.4(CYP7A1):c.38C>T (p.Ala13Val)	CYP7A1, LOC110596866 (A13V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 497296	NM_000780.4(CYP7A1):c.1059G>A (p.Ser353=)	CYP7A1, LOC126860400	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 290855	NM_000780.4(CYP7A1):c.81-10T>C	CYP7A1, LOC110596866	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 288450	NM_000780.4(CYP7A1):c.1192C>G (p.Pro398Ala)	CYP7A1, LOC126860400 (P398A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 91913	NM_000780.4(CYP7A1):c.907A>T (p.Arg303Trp)	CYP7A1 (R303W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Links from Gene

Items: 37