ClinVar for MedGen (Select 899982) - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664793	NM_058004.4(PI4KA):c.3646T>C (p.Trp1216Arg)	PI4KA (W1185R +2 more)	Single nucleotide variant (missense variant)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	GUncertain significance
Select item 2664792	NM_058004.4(PI4KA):c.4489G>A (p.Ala1497Thr)	PI4KA (A1466T +2 more)	Single nucleotide variant (missense variant)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	GUncertain significance
Select item 2441835	NM_058004.4(PI4KA):c.5116C>G (p.Pro1706Ala)	PI4KA (P1675A +2 more)	Single nucleotide variant (missense variant)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis +1 more	GUncertain significance
Select item 1802598	NM_058004.4(PI4KA):c.[1414A>C;355C>T]	PI4KA (S450R +2 more)	Single nucleotide variant (missense variant)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	GLikely pathogenic
Select item 1723895	NM_058004.4(PI4KA):c.4901del (p.Thr1634fs)	PI4KA (T1603fs +2 more)	Deletion (frameshift variant)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	GLikely pathogenic
Select item 1723894	NM_058004.4(PI4KA):c.2041C>A (p.Gln681Lys)	PI4KA (Q659K +1 more)	Single nucleotide variant (missense variant)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	GUncertain significance
Select item 1705310	NM_058004.4(PI4KA):c.5860C>G (p.Gln1954Glu)	PI4KA (Q1923E +2 more)	Single nucleotide variant (missense variant)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	GUncertain significance
Select item 1699253	NM_058004.4(PI4KA):c.2797A>G (p.Met933Val)	PI4KA (M911V +1 more)	Single nucleotide variant (missense variant)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	GUncertain significance
Select item 1699239	NM_058004.4(PI4KA):c.911T>A (p.Ile304Asn)	PI4KA (I304N)	Single nucleotide variant (missense variant)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	GUncertain significance
Select item 1699180	NM_058004.4(PI4KA):c.3109G>A (p.Ala1037Thr)	PI4KA (A1015T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1686063	NM_058004.4(PI4KA):c.2575-1G>A	PI4KA	Single nucleotide variant (splice acceptor variant)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	GPathogenic
Select item 1675874	NM_058004.4(PI4KA):c.5974C>T (p.Pro1992Ser)	PI4KA (P1961S +2 more)	Single nucleotide variant (missense variant)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis +1 more	GLikely pathogenic
Select item 1335869	NM_058004.4(PI4KA):c.3571C>T (p.Gln1191Ter)	PI4KA (Q1191* +2 more)	Single nucleotide variant (nonsense)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	GPathogenic
Select item 1335868	NM_058004.4(PI4KA):c.2330T>C (p.Leu777Pro)	PI4KA (L777P +1 more)	Single nucleotide variant (missense variant)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	GPathogenic
Select item 1335867	NM_058004.4(PI4KA):c.6065del (p.Arg2022fs)	PI4KA (R1991fs +2 more)	Deletion (frameshift variant)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	GPathogenic
Select item 1335866	NM_058004.4(PI4KA):c.5774G>A (p.Gly1925Glu)	PI4KA (G1925E +2 more)	Single nucleotide variant (missense variant)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	GPathogenic
Select item 1334052	NM_058004.4(PI4KA):c.803G>A (p.Arg268His)	PI4KA (R268H)	Single nucleotide variant (missense variant)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	GUncertain significance
Select item 1325874	NM_058004.4(PI4KA):c.6156_6159del (p.Thr2053fs)	PI4KA (T2022fs +2 more)	Deletion (frameshift variant)	Spastic paraplegia 84, autosomal recessive +1 more	GPathogenic
Select item 1325873	NM_058004.4(PI4KA):c.3592G>A (p.Ala1198Thr)	PI4KA (A1198T +2 more)	Single nucleotide variant (missense variant)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	GPathogenic
Select item 1325872	NM_058004.4(PI4KA):c.3454G>A (p.Glu1152Lys)	PI4KA (E1152K +1 more)	Single nucleotide variant (missense variant +1 more)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis +1 more	GLikely pathogenic
Select item 1325871	NM_058004.4(PI4KA):c.2624dup (p.Pro876fs)	PI4KA (P854fs +1 more)	Duplication (frameshift variant)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	GPathogenic
Select item 1293823	NM_058004.4(PI4KA):c.2988-12C>T	PI4KA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1286017	NM_058004.4(PI4KA):c.5679C>T (p.Cys1893=)	PI4KA	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1283281	NM_058004.4(PI4KA):c.5677-31A>G	PI4KA	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1281760	NM_058004.4(PI4KA):c.5116+49T>G	PI4KA	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1276368	NM_058004.4(PI4KA):c.1821-26G>A	PI4KA	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1272231	NM_058004.4(PI4KA):c.274-21A>G	PI4KA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1262251	NM_058004.4(PI4KA):c.5117-12C>T	PI4KA	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1253498	NM_058004.4(PI4KA):c.2987+38A>G	PI4KA	Single nucleotide variant (intron variant)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis +2 more	GBenign
Select item 1251392	NM_058004.4(PI4KA):c.5907T>C (p.Gly1969=)	PI4KA	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1251385	NM_058004.4(PI4KA):c.5677-37G>A	PI4KA	Single nucleotide variant (intron variant)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis +2 more	GBenign
Select item 1251294	NM_058004.4(PI4KA):c.5676+39C>A	PI4KA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1247219	NM_058004.4(PI4KA):c.2329-14T>A	PI4KA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1236354	NM_058004.4(PI4KA):c.5390+38G>A	PI4KA	Single nucleotide variant (intron variant)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis +2 more	GBenign
Select item 1236335	NM_058004.4(PI4KA):c.5391-34A>C	PI4KA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1231169	NM_058004.4(PI4KA):c.864C>T (p.Cys288=)	PI4KA	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1231151	NM_058004.4(PI4KA):c.529+29A>G	PI4KA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1224893	NM_058004.4(PI4KA):c.1005+38_1005+40dup	PI4KA	Duplication (intron variant)	not provided +2 more	GBenign
Select item 1221760	NM_058004.4(PI4KA):c.4053-15G>C	PI4KA	Single nucleotide variant (intron variant)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis +2 more	GBenign
Select item 1179740	NM_058004.4(PI4KA):c.5787T>C (p.Thr1929=)	PI4KA	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1034208	NM_058004.4(PI4KA):c.3275C>A (p.Ser1092Ter)	PI4KA (S1092* +1 more)	Single nucleotide variant (nonsense)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	GPathogenic
Select item 1033028	NM_058004.4(PI4KA):c.2684C>T (p.Ser895Phe)	PI4KA (S873F +1 more)	Single nucleotide variant (missense variant)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	GUncertain significance
Select item 1030111	NM_058004.4(PI4KA):c.501G>T (p.Met167Ile)	PI4KA (M167I)	Single nucleotide variant (missense variant)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	GUncertain significance
Select item 1030110	NM_058004.4(PI4KA):c.1076A>G (p.Asn359Ser)	PI4KA (N359S +1 more)	Single nucleotide variant (missense variant)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	GUncertain significance
Select item 870385	NM_058004.4(PI4KA):c.2386del (p.Arg796fs)	PI4KA (R774fs +1 more)	Deletion (frameshift variant)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	GLikely pathogenic
Select item 816782	NM_058004.4(PI4KA):c.5645T>C (p.Phe1882Ser)	PI4KA (F1851S +2 more)	Single nucleotide variant (missense variant)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	GUncertain significance
Select item 816781	NM_058004.4(PI4KA):c.5512G>A (p.Asp1838Asn)	PI4KA (D1807N +2 more)	Single nucleotide variant (missense variant)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	GUncertain significance
Select item 769146	NM_058004.4(PI4KA):c.6174-5C>T	PI4KA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 733937	NM_058004.4(PI4KA):c.4368C>T (p.Tyr1456=)	PI4KA	Single nucleotide variant (synonymous variant)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis +2 more	GConflicting classifications of pathogenicity
Select item 733936	NM_058004.4(PI4KA):c.4672C>T (p.Leu1558=)	PI4KA	Single nucleotide variant (synonymous variant)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis +2 more	GConflicting classifications of pathogenicity
Select item 623974	NM_058004.4(PI4KA):c.5596G>A (p.Asp1866Asn)	PI4KA (D1866N +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 208451	NM_058004.4(PI4KA):c.5560G>A (p.Asp1854Asn)	PI4KA (D1854N +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 208450	NM_058004.4(PI4KA):c.2386C>T (p.Arg796Ter)	PI4KA (R796* +1 more)	Single nucleotide variant (nonsense)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	GPathogenic
Select item 102538	NM_000277.3(PAH):c.1157A>G (p.Tyr386Cys)	PAH (Y386C)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 580	NM_000277.3(PAH):c.838G>A (p.Glu280Lys)	PAH (E280K)	Single nucleotide variant (missense variant)	Phenylketonuria +2 more	GPathogenic

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Items: 55