"CYP7A1-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 593652	NM_000780.4(CYP7A1):c.1409T>C (p.Ile470Thr)	CYP7A1 (I470T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 287207	NM_000780.4(CYP7A1):c.1292A>G (p.Lys431Arg)	CYP7A1 (K431R)	Single nucleotide variant (missense variant)	CYP7A1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 596775	NM_000780.4(CYP7A1):c.1215+8C>T	LOC126860400, CYP7A1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 288450	NM_000780.4(CYP7A1):c.1192C>G (p.Pro398Ala)	CYP7A1, LOC126860400 (P398A)	Single nucleotide variant (missense variant)	CYP7A1-related disorder +2 more	GConflicting classifications of pathogenicity
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 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 502270	NM_000780.4(CYP7A1):c.988G>A (p.Gly330Ser)	CYP7A1 (G330S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3057902	NM_000780.4(CYP7A1):c.849C>T (p.Leu283=)	CYP7A1	Single nucleotide variant (synonymous variant)	CYP7A1-related disorder	GLikely benign
Select item 3053370	NM_000780.4(CYP7A1):c.822G>A (p.Glu274=)	CYP7A1	Single nucleotide variant (synonymous variant)	CYP7A1-related disorder	GLikely benign
Select item 2636582	NM_000780.4(CYP7A1):c.749G>T (p.Arg250Met)	CYP7A1 (R250M)	Single nucleotide variant (missense variant)	CYP7A1-related disorder +1 more	GUncertain significance
Select item 2629513	NM_000780.4(CYP7A1):c.642A>C (p.Lys214Asn)	CYP7A1 (K214N)	Single nucleotide variant (missense variant)	CYP7A1-related disorder	GUncertain significance
Select item 3030025	NM_000780.4(CYP7A1):c.627C>T (p.Phe209=)	CYP7A1	Single nucleotide variant (synonymous variant)	CYP7A1-related disorder	GLikely benign
Select item 3029559	NM_000780.4(CYP7A1):c.489C>T (p.Thr163=)	CYP7A1	Single nucleotide variant (synonymous variant)	CYP7A1-related disorder	GLikely benign
Select item 3032842	NM_000780.4(CYP7A1):c.481T>G (p.Ser161Ala)	CYP7A1 (S161A)	Single nucleotide variant (missense variant)	CYP7A1-related disorder	GUncertain significance
Select item 3035669	NM_000780.4(CYP7A1):c.474C>T (p.Ser158=)	CYP7A1	Single nucleotide variant (synonymous variant)	CYP7A1-related disorder	GLikely benign
Select item 3052071	NM_000780.4(CYP7A1):c.402G>A (p.Gln134=)	CYP7A1	Single nucleotide variant (synonymous variant)	CYP7A1-related disorder	GLikely benign
Select item 3029811	NM_000780.4(CYP7A1):c.379G>A (p.Asp127Asn)	CYP7A1 (D127N)	Single nucleotide variant (missense variant)	CYP7A1-related disorder	GUncertain significance
Select item 3029089	NM_000780.4(CYP7A1):c.347C>T (p.Pro116Leu)	CYP7A1 (P116L)	Single nucleotide variant (missense variant)	CYP7A1-related disorder	GUncertain significance
Select item 502778	NM_000780.4(CYP7A1):c.123C>T (p.Tyr41=)	CYP7A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 497786	NM_000780.4(CYP7A1):c.38C>T (p.Ala13Val)	CYP7A1, LOC110596866 (A13V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 597579	NM_000780.4(CYP7A1):c.25G>A (p.Gly9Arg)	CYP7A1, LOC110596866 (G9R)	Single nucleotide variant (missense variant)	not provided +1 more	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

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Items: 22