"Ambry Genetics"[submitter] AND "FOCAD"[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 132

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2636103	NM_001375567.1(FOCAD):c.49C>A (p.Gln17Lys)	FOCAD (Q17K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2485400	NM_001375567.1(FOCAD):c.59C>G (p.Ala20Gly)	FOCAD (A20G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096170	NM_001375567.1(FOCAD):c.122C>A (p.Ser41Tyr)	FOCAD (S41Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485399	NM_001375567.1(FOCAD):c.176A>G (p.Asn59Ser)	FOCAD (N59S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327019	NM_001375567.1(FOCAD):c.194C>T (p.Ala65Val)	FOCAD (A65V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279456	NM_001375567.1(FOCAD):c.253C>T (p.Leu85Phe)	FOCAD (L85F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279453	NM_001375567.1(FOCAD):c.288A>G (p.Arg96=)	FOCAD	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3279455	NM_001375567.1(FOCAD):c.304A>G (p.Ile102Val)	FOCAD (I102V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2411295	NM_001375567.1(FOCAD):c.317T>C (p.Met106Thr)	FOCAD (M106T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2493008	NM_001375567.1(FOCAD):c.321C>G (p.His107Gln)	FOCAD (H107Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2209723	NM_001375567.1(FOCAD):c.374A>G (p.Gln125Arg)	FOCAD (Q125R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2385575	NM_001375567.1(FOCAD):c.487C>A (p.Pro163Thr)	FOCAD (P128T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591260	NM_001375567.1(FOCAD):c.491A>G (p.Glu164Gly)	FOCAD (E164G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621889	NM_001375567.1(FOCAD):c.523G>T (p.Ala175Ser)	FOCAD (A140S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621890	NM_001375567.1(FOCAD):c.526C>A (p.Pro176Thr)	FOCAD (P176T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339044	NM_001375567.1(FOCAD):c.545A>G (p.Tyr182Cys)	FOCAD (Y147C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525988	NM_001375567.1(FOCAD):c.719C>T (p.Thr240Ile)	FOCAD (T240I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096194	NM_001375567.1(FOCAD):c.728C>T (p.Ala243Val)	FOCAD (A243V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2327170	NM_001375567.1(FOCAD):c.730A>G (p.Met244Val)	FOCAD (M244V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353388	NM_001375567.1(FOCAD):c.766C>T (p.Arg256Cys)	FOCAD (R256C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261763	NM_001375567.1(FOCAD):c.773C>G (p.Pro258Arg)	FOCAD (P223R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096195	NM_001375567.1(FOCAD):c.805A>T (p.Ser269Cys)	FOCAD (S234C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096196	NM_001375567.1(FOCAD):c.831A>T (p.Glu277Asp)	FOCAD (E242D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096197	NM_001375567.1(FOCAD):c.906+1G>A	FOCAD	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GUncertain significance
Select item 2399378	NM_001375567.1(FOCAD):c.932T>C (p.Ile311Thr)	FOCAD (I276T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279451	NM_001375567.1(FOCAD):c.982A>T (p.Ile328Phe)	FOCAD (I293F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279460	NM_001375567.1(FOCAD):c.1042T>C (p.Ser348Pro)	FOCAD (S313P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 787068	NM_001375567.1(FOCAD):c.1096G>A (p.Asp366Asn)	FOCAD (D331N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2556490	NM_001375567.1(FOCAD):c.1124C>T (p.Pro375Leu)	FOCAD (P375L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303681	NM_001375567.1(FOCAD):c.1171G>A (p.Glu391Lys)	FOCAD (E356K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3279457	NM_001375567.1(FOCAD):c.1182A>C (p.Arg394Ser)	FOCAD (R394S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279448	NM_001375567.1(FOCAD):c.1187A>C (p.Asp396Ala)	FOCAD (D361A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400238	NM_001375567.1(FOCAD):c.1232T>C (p.Met411Thr)	FOCAD (M376T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096171	NM_001375567.1(FOCAD):c.1333A>G (p.Thr445Ala)	FOCAD (T410A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279462	NM_001375567.1(FOCAD):c.1336G>A (p.Ala446Thr)	FOCAD (A411T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3279452	NM_001375567.1(FOCAD):c.1336G>T (p.Ala446Ser)	FOCAD (A411S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214218	NM_001375567.1(FOCAD):c.1369G>T (p.Ala457Ser)	FOCAD (A422S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481183	NM_001375567.1(FOCAD):c.1388A>G (p.Asp463Gly)	FOCAD (D428G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485301	NM_001375567.1(FOCAD):c.1424C>T (p.Thr475Ile)	FOCAD (T440I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397135	NM_001375567.1(FOCAD):c.1499C>T (p.Pro500Leu)	FOCAD (P500L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3096172	NM_001375567.1(FOCAD):c.1532A>G (p.Tyr511Cys)	FOCAD (Y476C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3096173	NM_001375567.1(FOCAD):c.1585A>G (p.Ile529Val)	FOCAD (I529V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2458893	NM_001375567.1(FOCAD):c.1613G>A (p.Arg538Gln)	FOCAD (R503Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3279449	NM_001375567.1(FOCAD):c.1805A>G (p.His602Arg)	FOCAD (H602R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522115	NM_001375567.1(FOCAD):c.1817T>C (p.Met606Thr)	FOCAD (M606T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588516	NM_001375567.1(FOCAD):c.1828A>G (p.Ile610Val)	FOCAD (I575V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246633	NM_001375567.1(FOCAD):c.1919A>T (p.Glu640Val)	FOCAD (E605V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096174	NM_001375567.1(FOCAD):c.1957C>A (p.Pro653Thr)	FOCAD (P618T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248750	NM_001375567.1(FOCAD):c.1984C>G (p.Leu662Val)	FOCAD (L662V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279203	NM_001375567.1(FOCAD):c.2039A>C (p.Asn680Thr)	FOCAD (N680T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288366	NM_001375567.1(FOCAD):c.2086T>A (p.Trp696Arg)	FOCAD (W661R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2713842	NM_001375567.1(FOCAD):c.2113A>G (p.Ile705Val)	FOCAD (I705V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2369511	NM_001375567.1(FOCAD):c.2225A>T (p.Asp742Val)	FOCAD (D707V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602053	NM_001375567.1(FOCAD):c.2270C>G (p.Ser757Cys)	FOCAD (S722C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477115	NM_001375567.1(FOCAD):c.2320T>G (p.Leu774Val)	FOCAD (L774V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096175	NM_001375567.1(FOCAD):c.2407C>T (p.Arg803Cys)	FOCAD (R768C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300156	NM_001375567.1(FOCAD):c.2426C>T (p.Thr809Ile)	FOCAD (T809I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247181	NM_001375567.1(FOCAD):c.2507G>T (p.Gly836Val)	FOCAD (G801V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096176	NM_001375567.1(FOCAD):c.2509A>G (p.Met837Val)	FOCAD (M802V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096177	NM_001375567.1(FOCAD):c.2522A>G (p.Tyr841Cys)	FOCAD (Y806C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275201	NM_001375567.1(FOCAD):c.2575G>A (p.Ala859Thr)	FOCAD (A824T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2624029	NM_001375567.1(FOCAD):c.2597A>G (p.Lys866Arg)	FOCAD (K831R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279459	NM_001375567.1(FOCAD):c.2630A>C (p.His877Pro)	FOCAD (H877P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510425	NM_001375567.1(FOCAD):c.2653C>T (p.Arg885Cys)	FOCAD (R850C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3054433	NM_001375567.1(FOCAD):c.2654G>A (p.Arg885His)	FOCAD (R850H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096178	NM_001375567.1(FOCAD):c.2689A>G (p.Met897Val)	FOCAD (M862V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279464	NM_001375567.1(FOCAD):c.2699C>A (p.Ala900Asp)	FOCAD (A865D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096179	NM_001375567.1(FOCAD):c.2795C>T (p.Thr932Ile)	FOCAD (T897I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354574	NM_001375567.1(FOCAD):c.2813G>A (p.Arg938Lys)	FOCAD (R903K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212188	NM_001375567.1(FOCAD):c.2818A>T (p.Met940Leu)	FOCAD (M940L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2242057	NM_001375567.1(FOCAD):c.2873G>A (p.Gly958Asp)	FOCAD (G923D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393469	NM_001375567.1(FOCAD):c.2879C>T (p.Ala960Val)	FOCAD (A960V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246250	NM_001375567.1(FOCAD):c.2948A>G (p.Asp983Gly)	FOCAD (D948G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599227	NM_001375567.1(FOCAD):c.2957T>A (p.Leu986Gln)	FOCAD (L951Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279461	NM_001375567.1(FOCAD):c.3047C>A (p.Pro1016His)	FOCAD (P1016H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328626	NM_001375567.1(FOCAD):c.3052G>A (p.Gly1018Arg)	FOCAD (G1018R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294451	NM_001375567.1(FOCAD):c.3110C>G (p.Ala1037Gly)	FOCAD (A1037G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096180	NM_001375567.1(FOCAD):c.3112A>G (p.Ile1038Val)	FOCAD (I1003V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302559	NM_001375567.1(FOCAD):c.3118C>T (p.Arg1040Cys)	FOCAD (R1040C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366263	NM_001375567.1(FOCAD):c.3130G>A (p.Ala1044Thr)	FOCAD (A1044T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589468	NM_001375567.1(FOCAD):c.3158T>C (p.Val1053Ala)	FOCAD (V1053A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355106	NM_001375567.1(FOCAD):c.3163A>G (p.Ile1055Val)	FOCAD (I1055V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2375957	NM_001375567.1(FOCAD):c.3184G>T (p.Val1062Phe)	FOCAD (V1027F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249544	NM_001375567.1(FOCAD):c.3202A>G (p.Met1068Val)	FOCAD (M1033V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3096181	NM_001375567.1(FOCAD):c.3264C>G (p.His1088Gln)	FOCAD (H1053Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096182	NM_001375567.1(FOCAD):c.3292T>C (p.Ser1098Pro)	FOCAD (S1098P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379505	NM_001375567.1(FOCAD):c.3334G>C (p.Glu1112Gln)	FOCAD (E1077Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2911659	NM_001375567.1(FOCAD):c.3341A>G (p.Asn1114Ser)	FOCAD (N1114S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2538847	NM_001375567.1(FOCAD):c.3359C>T (p.Ser1120Leu)	FOCAD (S1120L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520783	NM_001375567.1(FOCAD):c.3410C>T (p.Thr1137Met)	FOCAD (T1137M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536831	NM_001375567.1(FOCAD):c.3458G>A (p.Ser1153Asn)	FOCAD (S1118N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096183	NM_001375567.1(FOCAD):c.3475C>G (p.Arg1159Gly)	FOCAD (R1124G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2634720	NM_001375567.1(FOCAD):c.3484G>A (p.Val1162Ile)	FOCAD (V1127I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3279458	NM_001375567.1(FOCAD):c.3500G>T (p.Arg1167Leu)	FOCAD (R1132L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402393	NM_001375567.1(FOCAD):c.3517G>A (p.Val1173Ile)	FOCAD (V1173I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515744	NM_001375567.1(FOCAD):c.3545C>A (p.Thr1182Lys)	FOCAD (T1182K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2758273	NM_001375567.1(FOCAD):c.3584G>A (p.Cys1195Tyr)	FOCAD (C1195Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2617106	NM_001375567.1(FOCAD):c.3722C>A (p.Ser1241Tyr)	FOCAD (S1241Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359417	NM_001375567.1(FOCAD):c.3758G>A (p.Ser1253Asn)	FOCAD (S1218N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2246251	NM_001375567.1(FOCAD):c.3836G>A (p.Gly1279Asp)	FOCAD (G1244D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

<< First< Prev

Page of 2