ClinVar for MedGen (Select 1794183) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2973704	NM_020738.4(KIDINS220):c.3386C>T (p.Thr1129Met)	KIDINS220 (T1087M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 2444156	NM_020738.4(KIDINS220):c.3504dup (p.Pro1169fs)	KIDINS220 (P1169fs +1 more)	Duplication (frameshift variant +2 more)	Ventriculomegaly and arthrogryposis	GPathogenic
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)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2152522	NM_020738.4(KIDINS220):c.25G>A (p.Val9Ile)	KIDINS220 (V9I)	Single nucleotide variant (missense variant +2 more)	Ventriculomegaly and arthrogryposis +1 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 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)	not provided +2 more	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 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 1261683	NM_020738.4(KIDINS220):c.2849-25T>A	KIDINS220	Single nucleotide variant (intron variant)	Ventriculomegaly and arthrogryposis +2 more	GBenign
Select item 1217314	NM_020738.4(KIDINS220):c.2137_2145del (p.Gln713_Leu715del)	KIDINS220	Deletion (inframe_deletion +1 more)	Ventriculomegaly and arthrogryposis	GPathogenic
Select item 1217313	NM_020738.4(KIDINS220):c.208del	KIDINS220	Deletion (splice acceptor variant)	Ventriculomegaly and arthrogryposis	GPathogenic
Select item 1217312	NM_020738.4(KIDINS220):c.3394_3403del (p.Gln1132fs)	KIDINS220 (Q1090fs +2 more)	Deletion (frameshift variant +1 more)	Ventriculomegaly and arthrogryposis	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 1049450	NM_020738.4(KIDINS220):c.3886A>G (p.Ser1296Gly)	KIDINS220 (S1197G +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 789266	NM_020738.4(KIDINS220):c.3586-7T>C	KIDINS220	Single nucleotide variant	not specified +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

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Items: 23