ClinVar for Gene (Select 144406) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3350914	NM_144668.6(CFAP251):c.3297C>T (p.Pro1099=)	CFAP251	Single nucleotide variant (synonymous variant)	CFAP251-related disorder	GLikely benign
Select item 3266425	NM_144668.6(CFAP251):c.2146A>G (p.Thr716Ala)	CFAP251 (T716A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266424	NM_144668.6(CFAP251):c.1482T>G (p.Cys494Trp)	CFAP251 (C494W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266423	NM_144668.6(CFAP251):c.518C>G (p.Ser173Cys)	CFAP251 (S173C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266422	NM_144668.6(CFAP251):c.1360T>C (p.Phe454Leu)	CFAP251 (F454L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266421	NM_144668.6(CFAP251):c.2518G>T (p.Gly840Cys)	CFAP251 (G840C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266420	NM_144668.6(CFAP251):c.2506G>C (p.Gly836Arg)	CFAP251 (G836R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266419	NM_144668.6(CFAP251):c.314C>T (p.Ala105Val)	CFAP251 (A105V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266418	NM_144668.6(CFAP251):c.904A>G (p.Ile302Val)	CFAP251 (I302V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266417	NM_144668.6(CFAP251):c.1357A>G (p.Ile453Val)	CFAP251 (I453V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3266416	NM_144668.6(CFAP251):c.146A>C (p.Glu49Ala)	CFAP251 (E49A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266415	NM_144668.6(CFAP251):c.2333A>G (p.Tyr778Cys)	CFAP251 (Y778C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266414	NM_144668.6(CFAP251):c.295G>A (p.Glu99Lys)	CFAP251 (E99K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244353	NC_000012.11:g.(?_121416034)_(122985387_?)del	ZCCHC8, ANAPC5 +24 more	Deletion	not provided	GPathogenic
Select item 3244258	NC_000012.11:g.(?_120270555)_(124242579_?)dup	ABCB9, ACADS +73 more	Duplication	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 3143439	NM_144668.6(CFAP251):c.882C>A (p.His294Gln)	CFAP251 (H294Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143438	NM_144668.6(CFAP251):c.854A>G (p.Tyr285Cys)	CFAP251 (Y285C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143437	NM_144668.6(CFAP251):c.851T>C (p.Ile284Thr)	CFAP251 (I284T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143436	NM_144668.6(CFAP251):c.838C>T (p.His280Tyr)	CFAP251 (H280Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143435	NM_144668.6(CFAP251):c.82C>T (p.Pro28Ser)	CFAP251 (P28S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143434	NM_144668.6(CFAP251):c.722A>G (p.Asp241Gly)	CFAP251 (D241G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143433	NM_144668.6(CFAP251):c.704A>G (p.Asp235Gly)	CFAP251 (D235G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143432	NM_144668.6(CFAP251):c.646G>A (p.Asp216Asn)	CFAP251 (D216N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3143431	NM_144668.6(CFAP251):c.571C>G (p.Gln191Glu)	CFAP251 (Q191E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143430	NM_144668.6(CFAP251):c.515G>C (p.Ser172Thr)	CFAP251 (S172T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143429	NM_144668.6(CFAP251):c.46G>A (p.Gly16Arg)	CFAP251 (G16R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143428	NM_144668.6(CFAP251):c.451G>C (p.Asp151His)	CFAP251 (D151H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143427	NM_144668.6(CFAP251):c.3433G>A (p.Gly1145Ser)	CFAP251 (G1145S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143426	NM_144668.6(CFAP251):c.3418A>G (p.Ile1140Val)	CFAP251 (I1140V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143425	NM_144668.6(CFAP251):c.3331G>A (p.Val1111Ile)	CFAP251 (V1111I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143424	NM_144668.6(CFAP251):c.3295C>A (p.Pro1099Thr)	CFAP251 (P1099T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143423	NM_144668.6(CFAP251):c.3212T>G (p.Phe1071Cys)	CFAP251 (F1071C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143422	NM_144668.6(CFAP251):c.319A>G (p.Met107Val)	CFAP251 (M107V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143421	NM_144668.6(CFAP251):c.3160G>A (p.Val1054Met)	CFAP251 (V1054M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143420	NM_144668.6(CFAP251):c.3025G>A (p.Glu1009Lys)	CFAP251 (E1009K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143419	NM_144668.6(CFAP251):c.2908A>G (p.Ile970Val)	CFAP251 (I970V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143418	NM_144668.6(CFAP251):c.2795T>C (p.Leu932Pro)	CFAP251 (L932P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143417	NM_144668.6(CFAP251):c.2794C>T (p.Leu932Phe)	CFAP251 (L932F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143416	NM_144668.6(CFAP251):c.2726C>T (p.Ala909Val)	CFAP251 (A909V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143415	NM_144668.6(CFAP251):c.2371G>A (p.Asp791Asn)	CFAP251 (D791N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143414	NM_144668.6(CFAP251):c.22C>A (p.Pro8Thr)	CFAP251 (P8T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143412	NM_144668.6(CFAP251):c.2216C>G (p.Ser739Cys)	CFAP251 (S739C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143411	NM_144668.6(CFAP251):c.214A>G (p.Ile72Val)	CFAP251 (I72V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143410	NM_144668.6(CFAP251):c.2108A>G (p.His703Arg)	CFAP251 (H703R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143409	NM_144668.6(CFAP251):c.2094T>G (p.His698Gln)	CFAP251 (H698Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143408	NM_144668.6(CFAP251):c.205G>A (p.Asp69Asn)	CFAP251 (D69N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143407	NM_144668.6(CFAP251):c.2036T>A (p.Met679Lys)	CFAP251 (M679K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143405	NM_144668.6(CFAP251):c.19G>A (p.Ala7Thr)	CFAP251 (A7T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143404	NM_144668.6(CFAP251):c.1985C>G (p.Ala662Gly)	CFAP251 (A662G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143403	NM_144668.6(CFAP251):c.1933G>C (p.Val645Leu)	CFAP251 (V645L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143402	NM_144668.6(CFAP251):c.178G>A (p.Glu60Lys)	CFAP251 (E60K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143401	NM_144668.6(CFAP251):c.170C>T (p.Thr57Met)	CFAP251 (T57M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3143400	NM_144668.6(CFAP251):c.1645T>G (p.Phe549Val)	CFAP251 (F549V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143399	NM_144668.6(CFAP251):c.1540A>T (p.Ile514Phe)	CFAP251 (I514F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143398	NM_144668.6(CFAP251):c.1493A>G (p.His498Arg)	CFAP251 (H498R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143397	NM_144668.6(CFAP251):c.1457T>C (p.Leu486Ser)	CFAP251 (L486S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143396	NM_144668.6(CFAP251):c.1315G>C (p.Glu439Gln)	CFAP251 (E439Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143395	NM_144668.6(CFAP251):c.1211C>T (p.Pro404Leu)	CFAP251 (P404L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143394	NM_144668.6(CFAP251):c.1159A>C (p.Thr387Pro)	CFAP251 (T387P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143393	NM_144668.6(CFAP251):c.1087A>G (p.Thr363Ala)	CFAP251 (T363A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143391	NM_144668.6(CFAP251):c.1062G>A (p.Met354Ile)	CFAP251 (M354I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3143390	NM_144668.6(CFAP251):c.1007T>C (p.Val336Ala)	CFAP251 (V336A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060851	NM_144668.6(CFAP251):c.2608G>T (p.Val870Leu)	CFAP251 (V870L)	Single nucleotide variant (missense variant)	CFAP251-related disorder	GBenign
Select item 3060409	NM_144668.6(CFAP251):c.1333C>T (p.Leu445Phe)	CFAP251 (L445F)	Single nucleotide variant (missense variant)	CFAP251-related disorder	GBenign
Select item 3060236	NM_144668.6(CFAP251):c.1948C>T (p.Leu650Phe)	CFAP251 (L650F)	Single nucleotide variant (missense variant)	CFAP251-related disorder	GBenign
Select item 3060148	NM_144668.6(CFAP251):c.858C>T (p.Asn286=)	CFAP251	Single nucleotide variant (synonymous variant)	CFAP251-related disorder	GBenign
Select item 3057058	NM_144668.6(CFAP251):c.1977C>A (p.Pro659=)	CFAP251	Single nucleotide variant (synonymous variant)	CFAP251-related disorder	GBenign
Select item 3050667	NM_144668.6(CFAP251):c.1191+4A>G	CFAP251	Single nucleotide variant (intron variant)	CFAP251-related disorder	GLikely benign
Select item 3049480	NM_144668.6(CFAP251):c.3393C>T (p.Phe1131=)	CFAP251	Single nucleotide variant (synonymous variant)	CFAP251-related disorder	GLikely benign
Select item 3049348	NM_144668.6(CFAP251):c.453C>T (p.Asp151=)	CFAP251	Single nucleotide variant (synonymous variant)	CFAP251-related disorder	GLikely benign
Select item 3048403	NM_144668.6(CFAP251):c.621G>A (p.Glu207=)	CFAP251	Single nucleotide variant (synonymous variant)	CFAP251-related disorder	GLikely benign
Select item 3046256	NM_144668.6(CFAP251):c.1068C>T (p.His356=)	CFAP251	Single nucleotide variant (synonymous variant)	CFAP251-related disorder	GBenign
Select item 3045860	NM_144668.6(CFAP251):c.2492+10C>G	CFAP251	Single nucleotide variant (intron variant)	CFAP251-related disorder	GLikely benign
Select item 3043292	NM_144668.6(CFAP251):c.996A>G (p.Thr332=)	CFAP251	Single nucleotide variant (synonymous variant)	CFAP251-related disorder	GLikely benign
Select item 3043232	NM_144668.6(CFAP251):c.1268G>T (p.Trp423Leu)	CFAP251 (W423L)	Single nucleotide variant (missense variant)	CFAP251-related disorder	GLikely benign
Select item 3042785	NM_144668.6(CFAP251):c.2634C>T (p.Asp878=)	CFAP251	Single nucleotide variant (synonymous variant)	CFAP251-related disorder	GLikely benign
Select item 3042607	NM_144668.6(CFAP251):c.1533T>C (p.Asp511=)	CFAP251	Single nucleotide variant (synonymous variant)	CFAP251-related disorder	GLikely benign
Select item 3041415	NM_144668.6(CFAP251):c.2220T>C (p.His740=)	CFAP251	Single nucleotide variant (synonymous variant)	CFAP251-related disorder	GLikely benign
Select item 3040780	NM_144668.6(CFAP251):c.1947G>A (p.Gly649=)	CFAP251	Single nucleotide variant (synonymous variant)	CFAP251-related disorder	GLikely benign
Select item 3037196	NM_144668.6(CFAP251):c.2818T>C (p.Phe940Leu)	CFAP251 (F940L)	Single nucleotide variant (missense variant)	CFAP251-related disorder	GBenign
Select item 3025130	NM_144668.6(CFAP251):c.3114G>C (p.Lys1038Asn)	CFAP251 (K1038N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2684685	GRCh37/hg19 12q24.31-24.33(chr12:121551496-133777902)x3	AACS, ABCB9 +93 more	Copy number gain	not provided	GPathogenic
Select item 2684684	GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3	AACS, ABCB9 +108 more	Copy number gain	not provided	GPathogenic
Select item 2643492	NM_144668.6(CFAP251):c.3261G>T (p.Met1087Ile)	CFAP251 (M1087I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2643491	NM_144668.6(CFAP251):c.2578C>T (p.Arg860Cys)	CFAP251 (R860C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2643490	NM_144668.6(CFAP251):c.562C>T (p.Arg188Trp)	CFAP251 (R188W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2636927	NM_144668.6(CFAP251):c.799C>T (p.Arg267Ter)	CFAP251 (R267*)	Single nucleotide variant (nonsense)	CFAP251-related disorder	GPathogenic
Select item 2597360	NM_144668.6(CFAP251):c.1621C>A (p.Leu541Met)	CFAP251 (L541M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592549	NM_144668.6(CFAP251):c.1171C>T (p.Pro391Ser)	CFAP251 (P391S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580326	GRCh37/hg19 12q24.31(chr12:121341598-124103434)x3	ABCB9, ANAPC5 +48 more	Copy number gain	See cases	GUncertain significance
Select item 2578698	GRCh37/hg19 12q24.31(chr12:121890923-122473333)x1	BCL7A, CFAP251 +8 more	Copy number loss	not provided	GLikely pathogenic
Select item 2568609	NM_144668.6(CFAP251):c.2498C>T (p.Thr833Met)	CFAP251 (T833M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554365	NM_144668.6(CFAP251):c.947C>T (p.Thr316Ile)	CFAP251 (T316I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551772	NM_144668.6(CFAP251):c.1430G>A (p.Arg477His)	CFAP251 (R477H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545862	NM_144668.6(CFAP251):c.2147C>T (p.Thr716Ile)	CFAP251 (T716I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542747	NM_144668.6(CFAP251):c.1917A>T (p.Gln639His)	CFAP251 (Q639H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521991	NM_144668.6(CFAP251):c.2095A>G (p.Ile699Val)	CFAP251 (I699V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521713	NM_144668.6(CFAP251):c.2710T>A (p.Cys904Ser)	CFAP251 (C904S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510507	NM_144668.6(CFAP251):c.1429C>T (p.Arg477Cys)	CFAP251 (R477C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510504	NM_144668.6(CFAP251):c.857A>G (p.Asn286Ser)	CFAP251 (N286S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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