"CFAP57-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3051153	NM_001378189.1(CFAP57):c.366A>G (p.Leu122=)	CFAP57	Single nucleotide variant (synonymous variant)	CFAP57-related disorder	GLikely benign
Select item 3024901	NM_001378189.1(CFAP57):c.374A>G (p.Gln125Arg)	CFAP57 (Q125R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3040861	NM_001378189.1(CFAP57):c.375G>C (p.Gln125His)	CFAP57 (Q125H)	Single nucleotide variant (missense variant)	CFAP57-related disorder	GBenign
Select item 2629427	NM_001378189.1(CFAP57):c.434C>T (p.Ala145Val)	CFAP57 (A145V)	Single nucleotide variant (missense variant)	CFAP57-related disorder	GUncertain significance
Select item 3057543	NM_001378189.1(CFAP57):c.557C>G (p.Thr186Ser)	CFAP57 (T186S)	Single nucleotide variant (missense variant)	CFAP57-related disorder	GLikely benign
Select item 3040154	NM_001378189.1(CFAP57):c.777A>G (p.Pro259=)	CFAP57	Single nucleotide variant (synonymous variant)	CFAP57-related disorder	GLikely benign
Select item 3044554	NM_001378189.1(CFAP57):c.863T>C (p.Ile288Thr)	CFAP57 (I288T)	Single nucleotide variant (missense variant)	CFAP57-related disorder	GUncertain significance
Select item 3037462	NM_001378189.1(CFAP57):c.966C>G (p.Ile322Met)	CFAP57 (I322M)	Single nucleotide variant (missense variant)	CFAP57-related disorder	GLikely benign
Select item 3050191	NM_001378189.1(CFAP57):c.969+10G>A	CFAP57	Single nucleotide variant (intron variant)	CFAP57-related disorder	GLikely benign
Select item 3052215	NM_001378189.1(CFAP57):c.1176C>T (p.Ile392=)	CFAP57	Single nucleotide variant (synonymous variant)	CFAP57-related disorder	GLikely benign
Select item 3028972	NM_001378189.1(CFAP57):c.1180G>A (p.Gly394Ser)	CFAP57 (G394S)	Single nucleotide variant (missense variant)	CFAP57-related disorder	GUncertain significance
Select item 2634935	NM_001378189.1(CFAP57):c.1750T>G (p.Ser584Ala)	CFAP57, LOC126805719 (S584A)	Single nucleotide variant (missense variant)	CFAP57-related disorder	GUncertain significance
Select item 2638741	NM_001378189.1(CFAP57):c.1842G>A (p.Ser614=)	CFAP57	Single nucleotide variant (synonymous variant)	CFAP57-related disorder +1 more	GBenign/Likely benign
Select item 3053832	NM_001378189.1(CFAP57):c.1855C>T (p.Arg619Cys)	CFAP57 (R619C)	Single nucleotide variant (missense variant)	CFAP57-related disorder	GLikely benign
Select item 2628557	NM_001378189.1(CFAP57):c.1929+50G>A	CFAP57 (R660H)	Single nucleotide variant (missense variant +1 more)	CFAP57-related disorder	GUncertain significance
Select item 3039215	NM_001378189.1(CFAP57):c.1929+70A>G	CFAP57 (T667A)	Single nucleotide variant (missense variant +1 more)	CFAP57-related disorder	GLikely benign
Select item 3050841	NM_001378189.1(CFAP57):c.1941C>T (p.Thr647=)	CFAP57	Single nucleotide variant (synonymous variant)	CFAP57-related disorder	GLikely benign
Select item 3048557	NM_001378189.1(CFAP57):c.1978G>A (p.Gly660Ser)	CFAP57 (G660S)	Single nucleotide variant (missense variant)	CFAP57-related disorder	GBenign
Select item 3060837	NM_001378189.1(CFAP57):c.2548_2549insCCA (p.Val849_Arg850insThr)	CFAP57	Insertion (inframe insertion)	CFAP57-related disorder	GBenign
Select item 3042387	NM_001378189.1(CFAP57):c.2634T>C (p.Tyr878=)	CFAP57	Single nucleotide variant (synonymous variant)	CFAP57-related disorder	GLikely benign
Select item 3044492	NM_001378189.1(CFAP57):c.2898T>C (p.Asn966=)	CFAP57	Single nucleotide variant (synonymous variant)	CFAP57-related disorder	GLikely benign
Select item 3058381	NM_001378189.1(CFAP57):c.2901A>G (p.Gln967=)	CFAP57	Single nucleotide variant (synonymous variant)	CFAP57-related disorder	GLikely benign
Select item 3051891	NM_001378189.1(CFAP57):c.3010-8G>A	CFAP57	Single nucleotide variant (intron variant)	CFAP57-related disorder	GLikely benign
Select item 2636302	NM_001378189.1(CFAP57):c.3105G>T (p.Glu1035Asp)	CFAP57 (E1035D +1 more)	Single nucleotide variant (missense variant)	CFAP57-related disorder	GUncertain significance
Select item 3044235	NM_001378189.1(CFAP57):c.3307C>T (p.Arg1103Trp)	CFAP57 (R1103W +1 more)	Single nucleotide variant (missense variant)	CFAP57-related disorder	GBenign
Select item 3037594	NM_001378189.1(CFAP57):c.3318G>A (p.Glu1106=)	CFAP57	Single nucleotide variant (synonymous variant)	CFAP57-related disorder	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 26