ClinVar for MedGen (Select 924883) - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362459	NM_020738.4(KIDINS220):c.856C>T (p.Arg286Ter)	KIDINS220 (R244* +2 more)	Single nucleotide variant (nonsense +1 more)	Spastic paraplegia, intellectual disability, nystagmus, and obesity	GLikely pathogenic
Select item 3235078	NM_020738.4(KIDINS220):c.4053+1G>A	KIDINS220	Single nucleotide variant (splice donor variant)	Spastic paraplegia, intellectual disability, nystagmus, and obesity +1 more	GUncertain significance
Select item 3064467	NM_020738.4(KIDINS220):c.89A>T (p.Asp30Val)	KIDINS220 (D30V)	Single nucleotide variant (missense variant +2 more)	Spastic paraplegia, intellectual disability, nystagmus, and obesity	GUncertain significance
Select item 2672131	NM_020738.4(KIDINS220):c.4213_4216dup (p.Ile1406fs)	KIDINS220 (I1307fs +6 more)	Duplication (frameshift variant +1 more)	Spastic paraplegia, intellectual disability, nystagmus, and obesity	GLikely pathogenic
Select item 2671679	NM_020738.4(KIDINS220):c.4631A>G (p.Lys1544Arg)	KIDINS220 (K1445R +6 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia, intellectual disability, nystagmus, and obesity	GUncertain significance
Select item 2664840	NM_020738.4(KIDINS220):c.4169A>G (p.Tyr1390Cys)	KIDINS220 (Y1291C +6 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia, intellectual disability, nystagmus, and obesity	GUncertain significance
Select item 2585019	NM_020738.4(KIDINS220):c.876T>G (p.Tyr292Ter)	KIDINS220 (Y292* +2 more)	Single nucleotide variant (nonsense +1 more)	Spastic paraplegia, intellectual disability, nystagmus, and obesity	GLikely pathogenic
Select item 2502201	NM_020738.4(KIDINS220):c.1462G>A (p.Gly488Arg)	KIDINS220 (G446R +2 more)	Single nucleotide variant (missense variant +1 more)	Ventriculomegaly and arthrogryposis +1 more	GUncertain significance
Select item 2500966	NM_020738.4(KIDINS220):c.3529-5G>T	KIDINS220	Single nucleotide variant (intron variant)	Spastic paraplegia, intellectual disability, nystagmus, and obesity	GUncertain significance
Select item 2388181	NM_020738.4(KIDINS220):c.517C>T (p.Pro173Ser)	KIDINS220 (P131S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2388180	NM_020738.4(KIDINS220):c.346C>T (p.Arg116Cys)	KIDINS220 (R116C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2146522	NM_020738.4(KIDINS220):c.4835C>A (p.Ala1612Glu)	KIDINS220 (A1594E +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1905915	NM_020738.4(KIDINS220):c.4550A>G (p.Gln1517Arg)	KIDINS220 (Q1461R +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1895452	NM_020738.4(KIDINS220):c.4412delinsAAG (p.Ser1471Ter)	KIDINS220 (S1372* +6 more)	Indel (nonsense +1 more)	Spastic paraplegia, intellectual disability, nystagmus, and obesity	GPathogenic
Select item 1806313	NM_020738.4(KIDINS220):c.959A>G (p.Asp320Gly)	KIDINS220 (D278G +2 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia, intellectual disability, nystagmus, and obesity	GUncertain significance
Select item 1806301	NM_020738.4(KIDINS220):c.2294A>G (p.Asn765Ser)	KIDINS220 (N723S +2 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia, intellectual disability, nystagmus, and obesity	GUncertain significance
Select item 1804954	NM_020738.4(KIDINS220):c.3395dup (p.His1133fs)	KIDINS220 (H1091fs +2 more)	Duplication (frameshift variant +1 more)	Spastic paraplegia, intellectual disability, nystagmus, and obesity	GPathogenic
Select item 1803914	NM_020738.4(KIDINS220):c.560A>G (p.Lys187Arg)	KIDINS220 (K145R +2 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia, intellectual disability, nystagmus, and obesity	GUncertain significance
Select item 1803899	NM_020738.4(KIDINS220):c.1022A>G (p.Lys341Arg)	KIDINS220 (K299R +2 more)	Single nucleotide variant (missense variant +1 more)	Ventriculomegaly and arthrogryposis +1 more	GUncertain significance
Select item 1803883	NM_020738.4(KIDINS220):c.2593G>A (p.Val865Ile)	KIDINS220 (V823I +2 more)	Single nucleotide variant (missense variant +1 more)	Ventriculomegaly and arthrogryposis +2 more	GUncertain significance
Select item 1710066	NM_020738.4(KIDINS220):c.4822C>T (p.Gln1608Ter)	KIDINS220 (Q1509* +6 more)	Single nucleotide variant (nonsense +1 more)	Spastic paraplegia, intellectual disability, nystagmus, and obesity	GUncertain significance
Select item 1708094	NM_020738.4(KIDINS220):c.2164C>T (p.Gln722Ter)	KIDINS220 (Q680* +2 more)	Single nucleotide variant (nonsense +1 more)	Spastic paraplegia, intellectual disability, nystagmus, and obesity	GUncertain significance
Select item 1685907	NM_020738.4(KIDINS220):c.3415-4A>G	KIDINS220	Single nucleotide variant (intron variant)	Spastic paraplegia, intellectual disability, nystagmus, and obesity	GPathogenic
Select item 1683706	NM_020738.4(KIDINS220):c.4787A>G (p.Asn1596Ser)	KIDINS220 (N1497S +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1679777	NM_020738.4(KIDINS220):c.4850T>C (p.Leu1617Pro)	KIDINS220 (L1518P +6 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia, intellectual disability, nystagmus, and obesity	GUncertain significance
Select item 1619489	NM_020738.4(KIDINS220):c.2556A>G (p.Ala852=)	KIDINS220	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia, intellectual disability, nystagmus, and obesity +2 more	GBenign/Likely benign
Select item 1526161	NM_020738.4(KIDINS220):c.4388C>A (p.Ser1463Ter)	KIDINS220 (S1364* +6 more)	Single nucleotide variant (nonsense +1 more)	Spastic paraplegia, intellectual disability, nystagmus, and obesity	GLikely pathogenic
Select item 1525138	NM_020738.4(KIDINS220):c.2569G>A (p.Val857Ile)	KIDINS220 (V815I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1342417	NM_020738.4(KIDINS220):c.4889A>G (p.His1630Arg)	KIDINS220 (H1531R +6 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia, intellectual disability, nystagmus, and obesity	GUncertain significance
Select item 1333866	NM_020738.4(KIDINS220):c.3991G>T (p.Glu1331Ter)	KIDINS220 (E1232* +6 more)	Single nucleotide variant (nonsense +1 more)	Spastic paraplegia, intellectual disability, nystagmus, and obesity	GLikely pathogenic
Select item 1261683	NM_020738.4(KIDINS220):c.2849-25T>A	KIDINS220	Single nucleotide variant (intron variant)	Ventriculomegaly and arthrogryposis +2 more	GBenign
Select item 1217311	NM_020738.4(KIDINS220):c.4389_4390del (p.Val1465fs)	KIDINS220 (V1366fs +6 more)	Deletion (frameshift variant +1 more)	Spastic paraplegia, intellectual disability, nystagmus, and obesity	GPathogenic
Select item 1169867	NM_020738.4(KIDINS220):c.4824G>T (p.Gln1608His)	KIDINS220 (Q1509H +6 more)	Single nucleotide variant (missense variant +1 more)	Ventriculomegaly and arthrogryposis +2 more	GBenign
Select item 1168944	NM_020738.4(KIDINS220):c.3673C>T (p.Leu1225=)	KIDINS220	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 1032095	NM_020738.4(KIDINS220):c.578_579delinsTT (p.Gly193Val)	KIDINS220 (G151V +2 more)	Indel (missense variant +1 more)	Spastic paraplegia, intellectual disability, nystagmus, and obesity +1 more	GUncertain significance
Select item 1032094	NM_020738.4(KIDINS220):c.746C>T (p.Thr249Met)	KIDINS220 (T207M +2 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia, intellectual disability, nystagmus, and obesity +1 more	GUncertain significance
Select item 1032092	NM_020738.4(KIDINS220):c.2428A>G (p.Ile810Val)	KIDINS220 (I811V +2 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia, intellectual disability, nystagmus, and obesity +1 more	GUncertain significance
Select item 1032091	NM_020738.4(KIDINS220):c.207+3A>G	KIDINS220	Single nucleotide variant (intron variant)	Spastic paraplegia, intellectual disability, nystagmus, and obesity +1 more	GUncertain significance
Select item 1030723	NM_020738.4(KIDINS220):c.4549C>T (p.Gln1517Ter)	KIDINS220 (Q1461* +6 more)	Single nucleotide variant (nonsense +1 more)	Spastic paraplegia, intellectual disability, nystagmus, and obesity +1 more	GUncertain significance
Select item 931552	NM_020738.4(KIDINS220):c.900+5G>A	KIDINS220	Single nucleotide variant (intron variant)	Spastic paraplegia, intellectual disability, nystagmus, and obesity	GUncertain significance
Select item 930776	NM_020738.4(KIDINS220):c.2987T>G (p.Met996Arg)	KIDINS220 (M954R +2 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia, intellectual disability, nystagmus, and obesity	GUncertain significance
Select item 930551	NM_020738.4(KIDINS220):c.2702G>A (p.Arg901Gln)	KIDINS220 (R902Q +2 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia, intellectual disability, nystagmus, and obesity	GUncertain significance
Select item 930271	NM_020738.4(KIDINS220):c.4053+1G>T	KIDINS220	Single nucleotide variant (splice donor variant)	Spastic paraplegia, intellectual disability, nystagmus, and obesity	GUncertain significance
Select item 817641	NM_020738.4(KIDINS220):c.4417dup (p.Leu1473fs)	KIDINS220 (L1417fs +6 more)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 789266	NM_020738.4(KIDINS220):c.3586-7T>C	KIDINS220	Single nucleotide variant	Spastic paraplegia, intellectual disability, nystagmus, and obesity +3 more	GBenign/Likely benign
Select item 767781	NM_020738.4(KIDINS220):c.2568C>T (p.Leu856=)	KIDINS220	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 741480	NM_020738.4(KIDINS220):c.3318C>T (p.Ser1106=)	KIDINS220	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 729662	NM_020738.4(KIDINS220):c.4947C>G (p.Asp1649Glu)	KIDINS220 (D1592E +6 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia, intellectual disability, nystagmus, and obesity +1 more	GConflicting classifications of pathogenicity
Select item 587468	NM_020738.4(KIDINS220):c.299G>A (p.Arg100His)	KIDINS220 (R100H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 441104	NM_020738.4(KIDINS220):c.974A>G (p.Asn325Ser)	KIDINS220 (N325S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 431718	NM_020738.4(KIDINS220):c.4138C>T (p.Gln1380Ter)	KIDINS220 (Q1380* +6 more)	Single nucleotide variant (nonsense +1 more)	Spastic paraplegia, intellectual disability, nystagmus, and obesity	GLikely pathogenic
Select item 430805	NM_020738.4(KIDINS220):c.5079_5080del (p.Asn1693fs)	KIDINS220 (N1637fs +6 more)	Deletion (frameshift variant +1 more)	Spastic paraplegia, intellectual disability, nystagmus, and obesity	GUncertain significance
Select item 374910	NM_020738.4(KIDINS220):c.4520dup (p.Leu1507fs)	KIDINS220 (L1408fs +6 more)	Duplication (frameshift variant +1 more)	Spastic paraplegia, intellectual disability, nystagmus, and obesity	GPathogenic
Select item 374909	NM_020738.4(KIDINS220):c.4096C>T (p.Gln1366Ter)	KIDINS220 (Q1366* +6 more)	Single nucleotide variant (nonsense +1 more)	Spastic paraplegia, intellectual disability, nystagmus, and obesity	GPathogenic
Select item 374908	NM_020738.4(KIDINS220):c.4050G>A (p.Trp1350Ter)	KIDINS220 (W1350* +6 more)	Single nucleotide variant (nonsense +1 more)	Spastic paraplegia, intellectual disability, nystagmus, and obesity	GPathogenic

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Items: 55