9247[HGNC] - ClinVar

Search results

Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 2430185	NM_003660.4(PPFIA3):c.115C>T (p.Arg39Cys)	LOC130064903, PPFIA3 (R39C)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 2582698	NM_003660.4(PPFIA3):c.118G>A (p.Glu40Lys)	LOC130064903, PPFIA3 (E40K)	Single nucleotide variant (missense variant +1 more)	PPFIA3-related disorder	GLikely pathogenic
Select item 1685032	NM_003660.4(PPFIA3):c.128T>A (p.Leu43Gln)	LOC130064903, PPFIA3 (L43Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3369280	NM_003660.4(PPFIA3):c.172C>A (p.Leu58Met)	LOC130064903, PPFIA3 (L58M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3343356	NM_003660.4(PPFIA3):c.213G>T (p.Gln71His)	LOC130064903, PPFIA3 (Q71H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2430188	NM_003660.4(PPFIA3):c.239A>C (p.Gln80Pro)	LOC130064903, PPFIA3 (Q80P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2582699	NM_003660.4(PPFIA3):c.240+1G>A	LOC130064903, PPFIA3	Single nucleotide variant (splice donor variant)	PPFIA3-related disorder	GLikely pathogenic
Select item 3369138	NM_003660.4(PPFIA3):c.241-1G>A	PPFIA3	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2250831	NM_003660.4(PPFIA3):c.260A>G (p.Lys87Arg)	PPFIA3 (K87R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3342471	NM_003660.4(PPFIA3):c.281_285del (p.Glu94fs)	PPFIA3 (E94fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2347344	NM_003660.4(PPFIA3):c.294G>C (p.Glu98Asp)	PPFIA3 (E98D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2465420	NM_003660.4(PPFIA3):c.309T>G (p.Ile103Met)	PPFIA3 (I103M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2484535	NM_003660.4(PPFIA3):c.327A>T (p.Glu109Asp)	PPFIA3 (E109D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3217115	NM_003660.4(PPFIA3):c.381C>G (p.His127Gln)	PPFIA3 (H127Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3309133	NM_003660.4(PPFIA3):c.507G>T (p.Lys169Asn)	PPFIA3 (K169N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3024544	NM_003660.4(PPFIA3):c.586_587del (p.Leu196fs)	PPFIA3 (L196fs)	Microsatellite (frameshift variant +1 more)	PPFIA3-associated neurodevelopmental disorder	GPathogenic
Select item 2363718	NM_003660.4(PPFIA3):c.613C>G (p.Arg205Gly)	PPFIA3 (R205G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3217116	NM_003660.4(PPFIA3):c.645T>G (p.Asp215Glu)	PPFIA3 (D215E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2507495	NM_003660.4(PPFIA3):c.698G>A (p.Arg233Gln)	PPFIA3 (R233Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2265960	NM_003660.4(PPFIA3):c.698G>C (p.Arg233Pro)	PPFIA3 (R233P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2261836	NM_003660.4(PPFIA3):c.700C>T (p.Arg234Cys)	PPFIA3 (R234C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2293178	NM_003660.4(PPFIA3):c.739G>A (p.Ala247Thr)	PPFIA3 (A247T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1696724	Single allele	HRC, LOC130064904 +2 more	Duplication	not provided	GUncertain significance
Select item 3342916	NM_003660.4(PPFIA3):c.887C>T (p.Ala296Val)	PPFIA3 (A296V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3309135	NM_003660.4(PPFIA3):c.902T>C (p.Met301Thr)	PPFIA3 (M301T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2582700	NM_003660.4(PPFIA3):c.943G>T (p.Ala315Ser)	PPFIA3 (A315S)	Single nucleotide variant (missense variant +1 more)	PPFIA3-related disorder	GLikely pathogenic
Select item 3342343	NM_003660.4(PPFIA3):c.952G>T (p.Glu318Ter)	PPFIA3 (E318*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3217117	NM_003660.4(PPFIA3):c.964C>G (p.Leu322Val)	PPFIA3 (L322V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2326545	NM_003660.4(PPFIA3):c.978C>G (p.Asn326Lys)	PPFIA3 (N326K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2478545	NM_003660.4(PPFIA3):c.1126G>A (p.Ala376Thr)	PPFIA3 (A376T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3217108	NM_003660.4(PPFIA3):c.1157A>G (p.Asn386Ser)	PPFIA3 (N386S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3217109	NM_003660.4(PPFIA3):c.1209G>C (p.Glu403Asp)	PPFIA3 (E403D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3366103	NM_003660.4(PPFIA3):c.1224GAA[1] (p.Lys409del)	PPFIA3 (K409del)	Microsatellite (non-coding transcript variant)	not provided	GUncertain significance
Select item 3364389	NM_003660.4(PPFIA3):c.1223A>G (p.Glu408Gly)	PPFIA3 (E408G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2430186	NM_003660.4(PPFIA3):c.1243C>T (p.Arg415Trp)	PPFIA3 (R415W)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 2429367	NM_003660.4(PPFIA3):c.1285C>T (p.Arg429Trp)	PPFIA3 (R429W)	Single nucleotide variant (missense variant +1 more)	PPFIA3-related disorder	GLikely pathogenic
Select item 2301561	NM_003660.4(PPFIA3):c.1403A>G (p.Asn468Ser)	PPFIA3 (N468S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2444005	NM_003660.4(PPFIA3):c.1492C>T (p.Arg498Trp)	PPFIA3 (R498W)	Single nucleotide variant (missense variant +1 more)	PPFIA3-related disorder	GLikely pathogenic
Select item 2289459	NM_003660.4(PPFIA3):c.1577C>T (p.Ser526Phe)	PPFIA3 (S526F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2348224	NM_003660.4(PPFIA3):c.1603G>A (p.Ala535Thr)	PPFIA3 (A535T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 992304	NM_003660.4(PPFIA3):c.1619_1620del (p.Ala540fs)	PPFIA3 (A540fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2430187	NM_003660.4(PPFIA3):c.1638G>T (p.Trp546Cys)	PPFIA3 (W546C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2429366	NM_003660.4(PPFIA3):c.1675C>T (p.Arg559Trp)	PPFIA3 (R559W)	Single nucleotide variant (missense variant +1 more)	PPFIA3-related disorder	GLikely pathogenic
Select item 1343007	NM_003660.4(PPFIA3):c.1687G>T (p.Ala563Ser)	PPFIA3 (A563S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3342434	NM_003660.4(PPFIA3):c.1725C>A (p.Asp575Glu)	PPFIA3 (D575E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2527810	NM_003660.4(PPFIA3):c.1744G>A (p.Ala582Thr)	PPFIA3 (A582T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2516943	NM_003660.4(PPFIA3):c.1765G>A (p.Glu589Lys)	PPFIA3 (E589K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3309130	NM_003660.4(PPFIA3):c.1909C>T (p.Arg637Trp)	PPFIA3 (R637W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272331	NM_003660.4(PPFIA3):c.1985C>G (p.Ser662Cys)	PPFIA3 (S662C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3217110	NM_003660.4(PPFIA3):c.2143C>G (p.Pro715Ala)	PPFIA3 (P715A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2548556	NM_003660.4(PPFIA3):c.2158C>T (p.Arg720Cys)	PPFIA3 (R720C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2672125	NM_003660.4(PPFIA3):c.2186_2193del (p.Gln729fs)	PPFIA3 (Q729fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3217111	NM_003660.4(PPFIA3):c.2209T>G (p.Ser737Ala)	PPFIA3 (S737A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2582782	NM_003660.4(PPFIA3):c.2276A>G (p.Lys759Arg)	PPFIA3 (K759R)	Single nucleotide variant (missense variant +1 more)	PPFIA3-related disorder	GLikely pathogenic
Select item 2429368	NM_003660.4(PPFIA3):c.2350C>T (p.Arg784Trp)	PPFIA3 (R784W)	Single nucleotide variant (missense variant +1 more)	PPFIA3-related disorder	GPathogenic
Select item 3309132	NM_003660.4(PPFIA3):c.2353G>T (p.Asp785Tyr)	PPFIA3 (D785Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2582781	NM_003660.4(PPFIA3):c.2377C>A (p.Pro793Thr)	PPFIA3 (P793T)	Single nucleotide variant (missense variant +1 more)	PPFIA3-related disorder	GLikely pathogenic
Select item 3309131	NM_003660.4(PPFIA3):c.2470C>G (p.Leu824Val)	PPFIA3 (L824V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3217112	NM_003660.4(PPFIA3):c.2495G>A (p.Gly832Asp)	PPFIA3 (G832D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3217113	NM_003660.4(PPFIA3):c.2515G>A (p.Asp839Asn)	PPFIA3 (D839N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3342329	NM_003660.4(PPFIA3):c.2600G>C (p.Ser867Thr)	PPFIA3 (S867T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2583123	NM_003660.4(PPFIA3):c.2609T>A (p.Ile870Asn)	PPFIA3 (I870N)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 3365413	NM_003660.4(PPFIA3):c.2692A>G (p.Ile898Val)	PPFIA3 (I898V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2663924	NM_003660.4(PPFIA3):c.2706dup (p.Ser903fs)	PPFIA3 (S903fs)	Duplication (frameshift variant +1 more)	PPFIA3-related disorder	GLikely pathogenic
Select item 1992424	NM_003660.4(PPFIA3):c.2717C>T (p.Ser906Leu)	PPFIA3 (S906L)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental delay	GLikely pathogenic
Select item 2582780	Single allele	HRC, LOC130064904 +2 more	Deletion	PPFIA3-related disorder	GLikely pathogenic
Select item 916246	NM_003660.4(PPFIA3):c.2907A>G (p.Gln969=)	PPFIA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3369555	NM_003660.4(PPFIA3):c.3047G>A (p.Arg1016Gln)	PPFIA3 (R1016Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2479878	NM_003660.4(PPFIA3):c.3152C>A (p.Ser1051Tyr)	PPFIA3 (S1051Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3217114	NM_003660.4(PPFIA3):c.3228G>C (p.Glu1076Asp)	PPFIA3 (E1076D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1992425	NM_003660.4(PPFIA3):c.3307del (p.Glu1103fs)	PPFIA3 (E1103fs)	Deletion (frameshift variant +1 more)	Neurodevelopmental delay	GLikely pathogenic
Select item 3342517	NM_003660.4(PPFIA3):c.3318C>A (p.Asn1106Lys)	PPFIA3 (N1106K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2280594	NM_003660.4(PPFIA3):c.3493C>G (p.Pro1165Ala)	LOC130064904, PPFIA3 (P1165A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 2426330	NC_000019.9:g.(?_49472545)_(49714755_?)del	C19orf73, CGB1 +15 more	Deletion	Progressive familial heart block type IB	GUncertain significance
Select item 1346497	NC_000019.9:g.(?_49519325)_(50366015_?)dup	ADM5, ALDH16A1 +45 more	Duplication	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
Select item 972940	GRCh37/hg19 19q13.33(chr19:49640430-49703884)x3	HRC, PPFIA3 +1 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 686542	GRCh37/hg19 19q13.33(chr19:49600909-51366070)x3	C19orf81, CD37 +66 more	Copy number gain	not provided	GUncertain significance
Select item 564587	GRCh37/hg19 19q13.33(chr19:49645600-49891280)x3	TRPM4, CD37 +5 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 395506	GRCh37/hg19 19q13.33(chr19:49640430-49703840)x3	HRC, PPFIA3 +1 more	Copy number gain	See cases	GLikely benign
Select item 3360934	NM_003660.4(PPFIA3):c.1885C>T (p.Gln629Ter)	PPFIA3 (Q629*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3359683	NM_003660.4(PPFIA3):c.2488C>T (p.Arg830Cys)	PPFIA3 (R830C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359328	NM_003660.4(PPFIA3):c.1521-2A>G	PPFIA3	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3358987	NM_003660.4(PPFIA3):c.2809-7G>A	PPFIA3	Single nucleotide variant (intron variant)	PPFIA3-associated neurodevelopmental disorder	GUncertain significance

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Items: 92