ClinVar for MedGen (Select 1641154) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359039	NM_017934.7(PHIP):c.1879+1G>A	PHIP	Single nucleotide variant (splice donor variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GPathogenic
Select item 3359011	NM_017934.7(PHIP):c.3297_3298del (p.Phe1100fs)	PHIP (F1100fs)	Deletion (frameshift variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GPathogenic
Select item 3258093	NM_017934.7(PHIP):c.2201+1G>A	PHIP	Single nucleotide variant (splice donor variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 3255029	NM_017934.7(PHIP):c.1541A>G (p.His514Arg)	PHIP (H514R)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 3254594	NM_017934.7(PHIP):c.1523T>G (p.Met508Arg)	PHIP (M508R)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 3250456	NM_017934.7(PHIP):c.2703del (p.Lys901_Val902insTer)	PHIP	Deletion (frameshift variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 3242043	NM_017934.7(PHIP):c.3675G>T (p.Met1225Ile)	IRAK1BP1, PHIP (M1225I)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GUncertain significance
Select item 3236632	NM_017934.7(PHIP):c.1137-2A>G	PHIP	Single nucleotide variant (splice acceptor variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 3024314	NM_017934.7(PHIP):c.4981A>G (p.Arg1661Gly)	IRAK1BP1, PHIP (R1661G)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GUncertain significance
Select item 3024269	NM_017934.7(PHIP):c.3243G>A (p.Trp1081Ter)	IRAK1BP1, PHIP (W1081*)	Single nucleotide variant (nonsense)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GPathogenic
Select item 2861888	NM_017934.7(PHIP):c.1546G>A (p.Ala516Thr)	PHIP (A516T)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2691897	NM_017934.7(PHIP):c.1296G>T (p.Trp432Cys)	PHIP (W432C)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GUncertain significance
Select item 2674607	NM_017934.7(PHIP):c.895C>T (p.Leu299Phe)	PHIP (L299F)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GUncertain significance
Select item 2664259	NM_017934.7(PHIP):c.1525A>T (p.Ile509Phe)	PHIP (I509F)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 2664258	NM_017934.7(PHIP):c.1523dup (p.Met508fs)	PHIP (M508fs)	Duplication (frameshift variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 2664257	NM_017934.7(PHIP):c.1520A>G (p.Asn507Ser)	PHIP (N507S)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome +1 more	GLikely pathogenic
Select item 2664256	NM_017934.7(PHIP):c.1452_1458del (p.Ala485fs)	PHIP (A485fs)	Deletion (frameshift variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 2664255	NM_017934.7(PHIP):c.1451C>T (p.Ser484Phe)	PHIP (S484F)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 2664254	NM_017934.7(PHIP):c.1283C>G (p.Thr428Ser)	PHIP (T428S)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 2664253	NM_017934.7(PHIP):c.820C>T (p.Gln274Ter)	PHIP (Q274*)	Single nucleotide variant (nonsense)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GPathogenic
Select item 2664252	NM_017934.7(PHIP):c.4979del (p.Gly1660fs)	IRAK1BP1, PHIP (G1660fs)	Deletion (frameshift variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 2664251	NM_017934.7(PHIP):c.4102G>T (p.Glu1368Ter)	IRAK1BP1, PHIP (E1368*)	Single nucleotide variant (nonsense)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 2664250	NM_017934.7(PHIP):c.3952dup (p.Ile1318fs)	IRAK1BP1, PHIP (I1318fs)	Duplication (frameshift variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GPathogenic
Select item 2664249	NM_017934.7(PHIP):c.439+5G>T	PHIP	Single nucleotide variant (intron variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 2664248	NM_017934.7(PHIP):c.3902dup (p.Asp1302fs)	IRAK1BP1, PHIP (D1302fs)	Duplication (frameshift variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 2664247	NM_017934.7(PHIP):c.3499del (p.Arg1167fs)	IRAK1BP1, PHIP (R1167fs)	Deletion (frameshift variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GPathogenic
Select item 2664246	NM_017934.7(PHIP):c.3394G>T (p.Glu1132Ter)	IRAK1BP1, PHIP (E1132*)	Single nucleotide variant (nonsense)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GPathogenic
Select item 2664245	NM_017934.7(PHIP):c.3216_3227del (p.Phe1072_Ile1076delinsLeu)	IRAK1BP1, PHIP	Deletion (inframe_indel)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 2664244	NM_017934.7(PHIP):c.2978G>A (p.Trp993Ter)	IRAK1BP1, PHIP (W993*)	Single nucleotide variant (nonsense)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 2664243	NM_017934.7(PHIP):c.2890-2A>G	IRAK1BP1, PHIP	Single nucleotide variant (splice acceptor variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 2664242	NM_017934.7(PHIP):c.2306_2309del (p.Pro769fs)	PHIP (P769fs)	Deletion (frameshift variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GPathogenic
Select item 2664241	NM_017934.7(PHIP):c.2216G>A (p.Trp739Ter)	PHIP (W739*)	Single nucleotide variant (nonsense)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 2664240	NM_017934.7(PHIP):c.1654-2A>C	PHIP	Single nucleotide variant (splice acceptor variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GPathogenic
Select item 2664239	NM_017934.7(PHIP):c.41-7C>A	PHIP	Single nucleotide variant (intron variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 2502180	NM_017934.7(PHIP):c.3526A>T (p.Met1176Leu)	IRAK1BP1, PHIP (M1176L)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GUncertain significance
Select item 2502158	NM_017934.7(PHIP):c.2748G>C (p.Lys916Asn)	PHIP (K916N)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GUncertain significance
Select item 2442799	NM_017934.7(PHIP):c.3782+4A>C	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GUncertain significance
Select item 2441902	NM_017934.7(PHIP):c.5255A>T (p.Glu1752Val)	IRAK1BP1, PHIP (E1752V)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GUncertain significance
Select item 2434695	NM_017934.7(PHIP):c.5112T>G (p.Asp1704Glu)	IRAK1BP1, PHIP (D1704E)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GUncertain significance
Select item 2434694	NM_017934.7(PHIP):c.3506T>C (p.Val1169Ala)	IRAK1BP1, PHIP (V1169A)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2434693	NM_017934.7(PHIP):c.1234G>A (p.Gly412Ser)	PHIP (G412S)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GUncertain significance
Select item 2434692	NM_017934.7(PHIP):c.4846G>A (p.Ala1616Thr)	IRAK1BP1, PHIP (A1616T)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2434691	NM_017934.7(PHIP):c.5020T>G (p.Leu1674Val)	IRAK1BP1, PHIP (L1674V)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GUncertain significance
Select item 2434690	NM_017934.7(PHIP):c.2041G>A (p.Val681Ile)	PHIP (V681I)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GUncertain significance
Select item 2434689	NM_017934.7(PHIP):c.4042C>T (p.Leu1348Phe)	IRAK1BP1, PHIP (L1348F)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GUncertain significance
Select item 2434688	NM_017934.7(PHIP):c.2474T>G (p.Val825Gly)	PHIP (V825G)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GUncertain significance
Select item 2432603	NM_017934.7(PHIP):c.2039_2040del (p.Glu680fs)	PHIP (E680fs)	Microsatellite (frameshift variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 2270100	NM_017934.7(PHIP):c.2483G>A (p.Ser828Asn)	PHIP (S828N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2037278	NM_017934.7(PHIP):c.2040G>C (p.Glu680Asp)	PHIP (E680D)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1992347	NM_017934.7(PHIP):c.4513C>T (p.Arg1505Ter)	IRAK1BP1, PHIP (R1505*)	Single nucleotide variant (nonsense)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GPathogenic
Select item 1805885	NM_017934.7(PHIP):c.600+1G>C	PHIP	Single nucleotide variant (splice donor variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 1805883	NM_017934.7(PHIP):c.3326A>G (p.Asn1109Ser)	IRAK1BP1, PHIP (N1109S)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GUncertain significance
Select item 1803884	NM_017934.7(PHIP):c.1525-8T>C	PHIP	Single nucleotide variant (intron variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GUncertain significance
Select item 1709816	NM_017934.7(PHIP):c.4528C>T (p.Arg1510Ter)	IRAK1BP1, PHIP (R1510*)	Single nucleotide variant (nonsense)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 1709069	NM_017934.7(PHIP):c.2161C>T (p.Arg721Ter)	PHIP (R721*)	Single nucleotide variant (nonsense)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 1708980	NM_017934.7(PHIP):c.4370+1G>A	IRAK1BP1, PHIP	Single nucleotide variant (splice donor variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GPathogenic
Select item 1708258	NM_017934.7(PHIP):c.894G>A (p.Trp298Ter)	PHIP (W298*)	Single nucleotide variant (nonsense)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 1698953	NM_017934.7(PHIP):c.704_705del (p.Asn234_Tyr235insTer)	PHIP	Deletion (nonsense)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GPathogenic
Select item 1695372	NM_017934.7(PHIP):c.1463A>T (p.Asp488Val)	PHIP (D488V)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 1695371	NM_017934.7(PHIP):c.2888A>G (p.Glu963Gly)	IRAK1BP1, PHIP (E963G)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 1691554	NM_017934.7(PHIP):c.499A>G (p.Thr167Ala)	PHIP (T167A)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1691495	NM_017934.7(PHIP):c.5269G>T (p.Glu1757Ter)	IRAK1BP1, PHIP (E1757*)	Single nucleotide variant (nonsense)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GUncertain significance
Select item 1687540	NM_017934.7(PHIP):c.746T>A (p.Ile249Asn)	PHIP (I249N)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GUncertain significance
Select item 1686057	NM_017934.7(PHIP):c.1186C>T (p.Arg396Ter)	PHIP (R396*)	Single nucleotide variant (nonsense)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1686056	NM_017934.7(PHIP):c.2703dup (p.Val902fs)	PHIP (V902fs)	Duplication (frameshift variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GPathogenic
Select item 1685399	NM_017934.7(PHIP):c.50T>G (p.Phe17Cys)	PHIP (F17C)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 1685398	NM_017934.7(PHIP):c.3027A>G (p.Ile1009Met)	IRAK1BP1, PHIP (I1009M)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 1683694	NM_017934.7(PHIP):c.4546G>A (p.Val1516Ile)	IRAK1BP1, PHIP (V1516I)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GUncertain significance
Select item 1678572	NM_017934.7(PHIP):c.487C>T (p.Arg163Ter)	PHIP (R163*)	Single nucleotide variant (nonsense)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 1526170	NM_017934.7(PHIP):c.40+1G>A	LOC129996745, PHIP	Single nucleotide variant (splice donor variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 1526063	NM_017934.7(PHIP):c.3193C>T (p.Arg1065Ter)	IRAK1BP1, PHIP (R1065*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1343212	NM_017934.7(PHIP):c.3317G>A (p.Cys1106Tyr)	IRAK1BP1, PHIP (C1106Y)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 1342419	NM_017934.7(PHIP):c.2201+2092G>A	PHIP	Single nucleotide variant (intron variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GUncertain significance
Select item 1341801	NM_017934.7(PHIP):c.842G>A (p.Gly281Asp)	PHIP (G281D)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GUncertain significance
Select item 1334392	NM_017934.7(PHIP):c.4447C>T (p.Arg1483Ter)	IRAK1BP1, PHIP (R1483*)	Single nucleotide variant (nonsense)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1331533	NM_017934.7(PHIP):c.797A>G (p.His266Arg)	PHIP (H266R)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome +1 more	GLikely pathogenic
Select item 1329954	NM_017934.7(PHIP):c.4630+2_4630+5del	IRAK1BP1, PHIP	Deletion (splice donor variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 1327010	NM_017934.7(PHIP):c.1988T>G (p.Val663Gly)	PHIP (V663G)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome +1 more	GBenign
Select item 1325799	NM_017934.7(PHIP):c.214C>T (p.Pro72Ser)	PHIP (P72S)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GUncertain significance
Select item 1324892	NM_017934.7(PHIP):c.2564G>A (p.Trp855Ter)	PHIP (W855*)	Single nucleotide variant (nonsense)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 1299330	NM_017934.7(PHIP):c.1462G>T (p.Asp488Tyr)	PHIP (D488Y)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GUncertain significance
Select item 1273475	NM_017934.7(PHIP):c.2537+40G>A	PHIP	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1239852	NM_017934.7(PHIP):c.2832A>G (p.Thr944=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1237173	NM_017934.7(PHIP):c.4155C>T (p.Val1385=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome +1 more	GBenign
Select item 1235685	NM_017934.7(PHIP):c.4228C>T (p.Leu1410=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome +1 more	GBenign
Select item 1229592	NM_017934.7(PHIP):c.3278T>C (p.Leu1093Pro)	IRAK1BP1, PHIP (L1093P)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome +1 more	GBenign
Select item 1227137	NM_017934.7(PHIP):c.4236T>A (p.Ala1412=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome +1 more	GBenign
Select item 1226668	NM_017934.7(PHIP):c.3180T>C (p.Asp1060=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome +1 more	GBenign
Select item 1179564	NM_017934.7(PHIP):c.2017+48G>A	PHIP	Single nucleotide variant (intron variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome +1 more	GBenign
Select item 1172622	NM_017934.7(PHIP):c.3922A>T (p.Arg1308Ter)	IRAK1BP1, PHIP (R1308*)	Single nucleotide variant (nonsense)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GPathogenic
Select item 1030615	NM_017934.7(PHIP):c.4661C>T (p.Ala1554Val)	IRAK1BP1, PHIP (A1554V)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GUncertain significance
Select item 1030614	NM_017934.7(PHIP):c.4631-2A>T	IRAK1BP1, PHIP	Single nucleotide variant (splice acceptor variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 1030613	NM_017934.7(PHIP):c.4495G>A (p.Glu1499Lys)	IRAK1BP1, PHIP (E1499K)	Single nucleotide variant (missense variant)	PHIP-related disorder +1 more	GUncertain significance
Select item 1030612	NM_017934.7(PHIP):c.3610A>G (p.Thr1204Ala)	IRAK1BP1, PHIP (T1204A)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GUncertain significance
Select item 1030611	NM_017934.7(PHIP):c.2499AGA[2] (p.Glu836del)	PHIP (E836del)	Microsatellite (inframe_deletion)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome +1 more	GConflicting classifications of pathogenicity
Select item 997948	NM_017934.7(PHIP):c.3502dup (p.Ile1168fs)	IRAK1BP1, PHIP (I1168fs)	Duplication (frameshift variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 987322	NM_017934.7(PHIP):c.1507C>T (p.Arg503Ter)	PHIP (R503*)	Single nucleotide variant (nonsense)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome +1 more	GPathogenic/Likely pathogenic
Select item 984976	NM_017934.7(PHIP):c.3631_3634del (p.Gln1211fs)	IRAK1BP1, PHIP (Q1211fs)	Deletion (frameshift variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome +1 more	GPathogenic
Select item 982876	NM_017934.7(PHIP):c.3110C>A (p.Ser1037Ter)	IRAK1BP1, PHIP (S1037*)	Single nucleotide variant (nonsense)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GPathogenic
Select item 981012	NM_017934.7(PHIP):c.562T>C (p.Cys188Arg)	PHIP (C188R)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic

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