ClinVar for Gene (Select 54914) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 506

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234516	NM_001375567.1(FOCAD):c.5112G>C (p.Gln1704His)	FOCAD (Q1669H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234328	NM_001375567.1(FOCAD):c.4729-5_4729-4insTTTTTTTTTTTTTTTTTT	FOCAD	Insertion (intron variant)	not provided	GBenign
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 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 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 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 3096193	NM_001375567.1(FOCAD):c.5058C>A (p.Asp1686Glu)	FOCAD (D1686E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096192	NM_001375567.1(FOCAD):c.4956A>C (p.Arg1652Ser)	FOCAD (R1617S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096190	NM_001375567.1(FOCAD):c.4901A>T (p.Asn1634Ile)	FOCAD (N1599I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096189	NM_001375567.1(FOCAD):c.4820C>T (p.Ala1607Val)	FOCAD (A1607V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096187	NM_001375567.1(FOCAD):c.4689G>A (p.Met1563Ile)	FOCAD (M1528I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096186	NM_001375567.1(FOCAD):c.4318C>A (p.Gln1440Lys)	FOCAD (Q1440K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096185	NM_001375567.1(FOCAD):c.4055C>T (p.Pro1352Leu)	FOCAD (P1352L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096184	NM_001375567.1(FOCAD):c.3862G>A (p.Gly1288Arg)	FOCAD (G1253R +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 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 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 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 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 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 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 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 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 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 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 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 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 3096170	NM_001375567.1(FOCAD):c.122C>A (p.Ser41Tyr)	FOCAD (S41Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065759	NM_001375567.1(FOCAD):c.2961+1G>T	FOCAD	Single nucleotide variant (splice donor variant)	Liver disease, severe congenital	GLikely pathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 3061546	NM_001375567.1(FOCAD):c.3135G>T (p.Thr1045=)	FOCAD	Single nucleotide variant (synonymous variant)	FOCAD-related disorder	GLikely benign
Select item 3059103	NM_001375567.1(FOCAD):c.2719G>A (p.Gly907Arg)	FOCAD (G872R +1 more)	Single nucleotide variant (missense variant)	FOCAD-related disorder	GUncertain significance
Select item 3058420	NM_001375567.1(FOCAD):c.319C>T (p.His107Tyr)	FOCAD (H107Y)	Single nucleotide variant (missense variant +1 more)	FOCAD-related disorder	GLikely benign
Select item 3058192	NM_001375567.1(FOCAD):c.1686G>A (p.Gln562=)	FOCAD	Single nucleotide variant (synonymous variant)	FOCAD-related disorder	GLikely benign
Select item 3057941	NM_001375567.1(FOCAD):c.4336T>C (p.Leu1446=)	FOCAD	Single nucleotide variant (synonymous variant)	FOCAD-related disorder	GLikely benign
Select item 3057292	NM_001375567.1(FOCAD):c.1663-10G>A	FOCAD	Single nucleotide variant (intron variant)	FOCAD-related disorder	GLikely benign
Select item 3057113	NM_001375567.1(FOCAD):c.4729-17_4729-5dup	FOCAD	Duplication (intron variant)	FOCAD-related disorder	GLikely benign
Select item 3055197	NM_001375567.1(FOCAD):c.3498C>G (p.Leu1166=)	FOCAD	Single nucleotide variant (synonymous variant)	FOCAD-related disorder	GLikely benign
Select item 3055131	NM_001375567.1(FOCAD):c.1003C>A (p.Leu335Ile)	FOCAD (L300I +1 more)	Single nucleotide variant (missense variant)	FOCAD-related disorder	GUncertain significance
Select item 3054865	NM_001375567.1(FOCAD):c.2626-4A>G	FOCAD	Single nucleotide variant (intron variant)	FOCAD-related disorder	GLikely benign
Select item 3054554	NM_001375567.1(FOCAD):c.2968C>A (p.Pro990Thr)	FOCAD (P955T +1 more)	Single nucleotide variant (missense variant)	FOCAD-related disorder	GLikely benign
Select item 3054433	NM_001375567.1(FOCAD):c.2654G>A (p.Arg885His)	FOCAD (R850H +1 more)	Single nucleotide variant (missense variant)	FOCAD-related disorder	GUncertain significance
Select item 3054247	NM_001375567.1(FOCAD):c.3676-10T>A	FOCAD	Single nucleotide variant (intron variant)	FOCAD-related disorder	GLikely benign
Select item 3052741	NM_001375567.1(FOCAD):c.4729-19_4729-5dup	FOCAD	Duplication (intron variant)	FOCAD-related disorder	GLikely benign
Select item 3052689	NM_001375567.1(FOCAD):c.4359A>G (p.Pro1453=)	FOCAD	Single nucleotide variant (synonymous variant)	FOCAD-related disorder	GLikely benign
Select item 3051999	NM_001375567.1(FOCAD):c.1296T>C (p.Ser432=)	FOCAD	Single nucleotide variant (synonymous variant)	FOCAD-related disorder	GLikely benign
Select item 3051689	NM_001375567.1(FOCAD):c.1422C>T (p.Val474=)	FOCAD	Single nucleotide variant (synonymous variant)	FOCAD-related disorder	GLikely benign
Select item 3051585	NM_001375567.1(FOCAD):c.3078+9A>G	FOCAD	Single nucleotide variant (intron variant)	FOCAD-related disorder	GLikely benign
Select item 3050194	NM_001375567.1(FOCAD):c.1725G>T (p.Val575=)	FOCAD	Single nucleotide variant (synonymous variant)	FOCAD-related disorder	GLikely benign
Select item 3049030	NM_001375567.1(FOCAD):c.4729-9_4729-5dup	FOCAD	Duplication (intron variant)	FOCAD-related disorder	GLikely benign
Select item 3048936	NM_001375567.1(FOCAD):c.555A>G (p.Pro185=)	FOCAD	Single nucleotide variant (synonymous variant)	FOCAD-related disorder	GLikely benign
Select item 3048902	NM_001375567.1(FOCAD):c.4729-11_4729-5dup	FOCAD	Duplication (intron variant)	FOCAD-related disorder	GLikely benign
Select item 3046381	NM_001375567.1(FOCAD):c.4729-4G>T	FOCAD	Single nucleotide variant (intron variant)	FOCAD-related disorder	GBenign
Select item 3044779	NM_001375567.1(FOCAD):c.4729-20_4729-5dup	FOCAD	Duplication (intron variant)	FOCAD-related disorder	GLikely benign
Select item 3044566	NM_001375567.1(FOCAD):c.142T>C (p.Leu48=)	FOCAD	Single nucleotide variant (synonymous variant)	FOCAD-related disorder	GLikely benign
Select item 3044532	NM_001375567.1(FOCAD):c.2997T>C (p.Val999=)	FOCAD	Single nucleotide variant (synonymous variant)	FOCAD-related disorder	GLikely benign
Select item 3043242	NM_001375567.1(FOCAD):c.2107-6A>C	FOCAD	Single nucleotide variant (intron variant)	FOCAD-related disorder	GLikely benign
Select item 3043222	NM_001375567.1(FOCAD):c.133-10T>G	FOCAD	Single nucleotide variant (intron variant)	FOCAD-related disorder	GLikely benign
Select item 3042803	NM_001375567.1(FOCAD):c.4729-8_4729-5dup	FOCAD	Duplication (intron variant)	FOCAD-related disorder	GLikely benign
Select item 3042043	NM_001375567.1(FOCAD):c.4729-10_4729-5dup	FOCAD	Duplication (intron variant)	FOCAD-related disorder	GLikely benign
Select item 3041806	NM_001375567.1(FOCAD):c.4729-15_4729-5dup	FOCAD	Duplication (intron variant)	FOCAD-related disorder	GLikely benign
Select item 3041314	NM_001375567.1(FOCAD):c.4729-12_4729-5dup	FOCAD	Duplication (intron variant)	FOCAD-related disorder	GLikely benign
Select item 3040980	NM_001375567.1(FOCAD):c.1198-1G>C	FOCAD	Single nucleotide variant (splice acceptor variant)	FOCAD-related disorder	GUncertain significance
Select item 3040297	NM_001375567.1(FOCAD):c.4812G>C (p.Leu1604=)	FOCAD	Single nucleotide variant (synonymous variant)	FOCAD-related disorder	GLikely benign
Select item 3040124	NM_001375567.1(FOCAD):c.3429T>G (p.Val1143=)	FOCAD	Single nucleotide variant (synonymous variant)	FOCAD-related disorder	GLikely benign
Select item 3039704	NM_001375567.1(FOCAD):c.3545C>T (p.Thr1182Met)	FOCAD (T1147M +1 more)	Single nucleotide variant (missense variant)	FOCAD-related disorder	GLikely benign
Select item 3036977	NM_001375567.1(FOCAD):c.3111C>A (p.Ala1037=)	FOCAD	Single nucleotide variant (synonymous variant)	FOCAD-related disorder	GLikely benign
Select item 3036559	NM_001375567.1(FOCAD):c.1137G>T (p.Gln379His)	FOCAD (Q344H +1 more)	Single nucleotide variant (missense variant)	FOCAD-related disorder	GLikely benign
Select item 3034857	NM_001375567.1(FOCAD):c.4729-13_4729-5dup	FOCAD	Duplication (intron variant)	FOCAD-related disorder	GLikely benign
Select item 3034346	NM_001375567.1(FOCAD):c.4729-7_4729-5dup	FOCAD	Duplication (intron variant)	FOCAD-related disorder	GLikely benign
Select item 3034276	NM_001375567.1(FOCAD):c.1051C>T (p.Leu351=)	FOCAD	Single nucleotide variant (synonymous variant)	FOCAD-related disorder	GLikely benign
Select item 3032752	NM_001375567.1(FOCAD):c.2861C>T (p.Pro954Leu)	FOCAD (P919L +1 more)	Single nucleotide variant (missense variant)	FOCAD-related disorder	GLikely benign
Select item 3032471	NM_001375567.1(FOCAD):c.1721C>G (p.Ser574Trp)	FOCAD (S539W +1 more)	Single nucleotide variant (missense variant)	FOCAD-related disorder	GUncertain significance
Select item 3031985	NM_001375567.1(FOCAD):c.494+5del	FOCAD	Deletion (intron variant)	FOCAD-related disorder	GLikely benign
Select item 3031511	NM_001375567.1(FOCAD):c.1606A>G (p.Thr536Ala)	FOCAD (T501A +1 more)	Single nucleotide variant (missense variant)	FOCAD-related disorder	GUncertain significance
Select item 3031238	NM_001375567.1(FOCAD):c.494+7T>C	FOCAD	Single nucleotide variant (intron variant)	FOCAD-related disorder	GLikely benign
Select item 3030968	NM_001375567.1(FOCAD):c.948A>G (p.Leu316=)	FOCAD	Single nucleotide variant (synonymous variant)	FOCAD-related disorder	GLikely benign
Select item 3030470	NM_001375567.1(FOCAD):c.5001C>T (p.Asp1667=)	FOCAD	Single nucleotide variant (synonymous variant)	FOCAD-related disorder	GLikely benign
Select item 3030271	NM_001375567.1(FOCAD):c.3165T>C (p.Ile1055=)	FOCAD	Single nucleotide variant (synonymous variant)	FOCAD-related disorder	GLikely benign
Select item 3029400	NM_001375567.1(FOCAD):c.4236C>G (p.Leu1412=)	FOCAD	Single nucleotide variant (synonymous variant)	FOCAD-related disorder	GLikely benign
Select item 3029078	NM_001375567.1(FOCAD):c.5244A>G (p.Glu1748=)	FOCAD	Single nucleotide variant (synonymous variant)	FOCAD-related disorder	GLikely benign
Select item 3027283	NM_001375567.1(FOCAD):c.4051+2T>C	FOCAD	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 3027282	NM_001375567.1(FOCAD):c.3390C>A (p.Asp1130Glu)	FOCAD (D1095E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3016941	NM_001375567.1(FOCAD):c.1568T>C (p.Ile523Thr)	FOCAD (I488T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3013599	NM_001375567.1(FOCAD):c.1077A>G (p.Leu359=)	FOCAD	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2982281	NM_001375567.1(FOCAD):c.1666C>T (p.Arg556Ter)	FOCAD (R556* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2975893	NM_001375567.1(FOCAD):c.907-19T>C	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2918587	NM_001375567.1(FOCAD):c.2438T>A (p.Ile813Asn)	FOCAD (I778N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2913740	NM_001375567.1(FOCAD):c.5123C>G (p.Pro1708Arg)	FOCAD (P1673R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2912519	NM_001375567.1(FOCAD):c.4831C>T (p.Arg1611Cys)	FOCAD (R1576C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2911659	NM_001375567.1(FOCAD):c.3341A>G (p.Asn1114Ser)	FOCAD (N1114S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2909519	NM_001375567.1(FOCAD):c.3496C>T (p.Leu1166Phe)	FOCAD (L1131F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2908841	NM_001375567.1(FOCAD):c.5299G>T (p.Ala1767Ser)	FOCAD (A1732S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2904295	NM_001375567.1(FOCAD):c.3427G>A (p.Val1143Ile)	FOCAD (V1143I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2902813	NM_001375567.1(FOCAD):c.3805C>A (p.Pro1269Thr)	FOCAD (P1234T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896603	NM_001375567.1(FOCAD):c.2201A>C (p.Glu734Ala)	FOCAD (E699A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2894249	NM_001375567.1(FOCAD):c.904G>A (p.Glu302Lys)	FOCAD (E267K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2893490	NM_001375567.1(FOCAD):c.5113G>C (p.Glu1705Gln)	FOCAD (E1705Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2890238	NM_001375567.1(FOCAD):c.51A>G (p.Gln17=)	FOCAD	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2890221	NM_001375567.1(FOCAD):c.2077A>G (p.Ser693Gly)	FOCAD (S658G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 6