ClinVar for Gene (Select 54914) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362732	NM_001375567.1(FOCAD):c.2932C>T (p.Leu978Phe)	FOCAD (L943F +1 more)	Single nucleotide variant (missense variant)	Liver disease, severe congenital	GUncertain significance
Select item 3362425	NM_001375567.1(FOCAD):c.5150G>T (p.Gly1717Val)	FOCAD (G1682V +1 more)	Single nucleotide variant (missense variant)	Liver disease, severe congenital	GUncertain significance
Select item 3358562	NM_001375567.1(FOCAD):c.4052-3C>T	FOCAD	Single nucleotide variant (intron variant)	FOCAD-related disorder	GLikely benign
Select item 3357018	NM_001375567.1(FOCAD):c.4984C>T (p.His1662Tyr)	FOCAD (H1627Y +1 more)	Single nucleotide variant (missense variant)	FOCAD-related disorder	GUncertain significance
Select item 3355707	NM_001375567.1(FOCAD):c.5284G>A (p.Glu1762Lys)	FOCAD (E1727K +1 more)	Single nucleotide variant (missense variant)	FOCAD-related disorder	GUncertain significance
Select item 3354851	NM_001375567.1(FOCAD):c.2612C>T (p.Ala871Val)	FOCAD (A836V +1 more)	Single nucleotide variant (missense variant)	FOCAD-related disorder	GUncertain significance
Select item 3354376	NM_001375567.1(FOCAD):c.907-10A>G	FOCAD	Single nucleotide variant (intron variant)	FOCAD-related disorder	GLikely benign
Select item 3354369	NM_001375567.1(FOCAD):c.4389G>C (p.Lys1463Asn)	FOCAD (K1428N +1 more)	Single nucleotide variant (missense variant)	FOCAD-related disorder	GUncertain significance
Select item 3352581	NM_001375567.1(FOCAD):c.4729-21_4729-5dup	FOCAD	Duplication (intron variant)	FOCAD-related disorder	GLikely benign
Select item 3352234	NM_001375567.1(FOCAD):c.2369C>G (p.Pro790Arg)	FOCAD (P755R +1 more)	Single nucleotide variant (missense variant)	FOCAD-related disorder	GUncertain significance
Select item 3352152	NM_001375567.1(FOCAD):c.922C>T (p.Leu308=)	FOCAD	Single nucleotide variant (synonymous variant)	FOCAD-related disorder	GLikely benign
Select item 3351592	NM_001375567.1(FOCAD):c.1630_1631del (p.Leu544fs)	FOCAD (L509fs +1 more)	Deletion (frameshift variant)	FOCAD-related disorder	GUncertain significance
Select item 3351486	NM_001375567.1(FOCAD):c.4133-4A>G	FOCAD	Single nucleotide variant (intron variant)	FOCAD-related disorder	GLikely benign
Select item 3351055	NM_001375567.1(FOCAD):c.1344C>T (p.Ile448=)	FOCAD	Single nucleotide variant (synonymous variant)	FOCAD-related disorder	GLikely benign
Select item 3350508	NM_001375567.1(FOCAD):c.4674A>G (p.Lys1558=)	FOCAD	Single nucleotide variant (synonymous variant)	FOCAD-related disorder	GLikely benign
Select item 3350415	NM_001375567.1(FOCAD):c.4729-14_4729-5dup	FOCAD	Duplication (intron variant)	FOCAD-related disorder	GLikely benign
Select item 3349752	NM_001375567.1(FOCAD):c.805A>G (p.Ser269Gly)	FOCAD (S234G +1 more)	Single nucleotide variant (missense variant)	FOCAD-related disorder	GUncertain significance
Select item 3347772	NM_001375567.1(FOCAD):c.2988A>G (p.Lys996=)	FOCAD	Single nucleotide variant (synonymous variant)	FOCAD-related disorder	GUncertain significance
Select item 3347113	NM_001375567.1(FOCAD):c.2503+1G>T	FOCAD	Single nucleotide variant (splice donor variant)	FOCAD-related disorder	GLikely pathogenic
Select item 3344623	NM_001375567.1(FOCAD):c.1456G>A (p.Val486Met)	FOCAD (V451M +1 more)	Single nucleotide variant (missense variant +1 more)	FOCAD-related disorder	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 3279463	NM_001375567.1(FOCAD):c.4376G>A (p.Ser1459Asn)	FOCAD (S1424N +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 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 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 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 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 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 3279456	NM_001375567.1(FOCAD):c.253C>T (p.Leu85Phe)	FOCAD (L85F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 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 3279450	NM_001375567.1(FOCAD):c.4949A>G (p.Tyr1650Cys)	FOCAD (Y1615C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 3245358	NC_000009.11:g.(?_20758069)_(20765092_?)del	FOCAD	Deletion	not provided	GUncertain significance
Select item 3245357	NC_000009.11:g.(?_20862557)_(20916956_?)del	FOCAD	Deletion	not provided	GUncertain significance
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	DMAC1, DMRT1 +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)	Inborn genetic diseases	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

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