ClinVar for MedGen (Select 39314) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1172649	NM_006245.4(PPP2R5D):c.592_600del (p.Glu198_Glu200del)	PPP2R5D	Deletion (inframe_deletion)	Encephalopathy	GLikely pathogenic
Select item 1172608	NM_001690.4(ATP6V1A):c.790T>C (p.Ser264Pro)	ATP6V1A (S264P)	Single nucleotide variant (missense variant)	Epileptic encephalopathy, infantile or early childhood, 3 +1 more	GLikely pathogenic
Select item 992611	NM_015001.3(SPEN):c.6087_6088del (p.Glu2029fs)	SPEN (E2029fs)	Deletion (frameshift variant)	Encephalopathy +1 more	GPathogenic/Likely pathogenic
Select item 983379	NM_000836.4(GRIN2D):c.3961G>C (p.Gly1321Arg)	GRIN2D (G1321R)	Single nucleotide variant (missense variant)	Encephalopathy +1 more	GUncertain significance
Select item 977316	NM_001112.4(ADARB1):c.1993G>T (p.Ala665Ser)	ADARB1 (A665S +1 more)	Single nucleotide variant (missense variant +2 more)	Encephalopathy +2 more	GBenign
Select item 635911	Single allele	ABCA12, ATIC +2 more	Deletion	Encephalopathy	GUncertain significance
Select item 561124	NM_001292034.3(TAB2):c.679C>T (p.Arg227Ter)	LOC126859827, TAB2 (R227* +1 more)	Single nucleotide variant (nonsense)	Encephalopathy +4 more	GPathogenic/Likely pathogenic
Select item 488346	NM_000660.7(TGFB1):c.1159T>C (p.Cys387Arg)	TGFB1 (C387R)	Single nucleotide variant (missense variant)	Inflammatory bowel disease, immunodeficiency, and encephalopathy	GLikely pathogenic
Select item 488345	NM_000660.7(TGFB1):c.328C>T (p.Arg110Cys)	TGFB1, LOC130064510 (R110C)	Single nucleotide variant (missense variant)	Inflammatory bowel disease, immunodeficiency, and encephalopathy	GLikely pathogenic
Select item 487577	NM_000660.7(TGFB1):c.133C>T (p.Arg45Cys)	LOC130064510, TGFB1 (R45C)	Single nucleotide variant (missense variant)	Inflammatory bowel disease, immunodeficiency, and encephalopathy	GLikely pathogenic
Select item 370057	NC_012920.1(MT-ND4):m.12018C>G	MT-ND4	Single nucleotide variant	Calcification of extrapyramidal basal ganglia +10 more	GUncertain significance
Select item 370056	NC_012920.1(MT-ND4):m.12013A>G	MT-ND4	Single nucleotide variant	Leigh syndrome +10 more	GUncertain significance
Select item 370053	NC_012920.1:m.11815C>G	MT-ND4	Single nucleotide variant	Developmental delay +5 more	GUncertain significance
Select item 267985	46;XY;inv(9)(p21.2p22.1)		Inversion	Encephalopathy	GUncertain significance
Select item 267976	46;XY;inv(14)(q13q24.1)		Inversion	Encephalopathy	GLikely pathogenic
Select item 224118	NM_019109.5(ALG1):c.1187+3A>G	ALG1	Single nucleotide variant (intron variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 219190	NM_001371986.1(UNC80):c.565G>A (p.Val189Met)	UNC80 (V189M)	Single nucleotide variant (missense variant)	Encephalopathy	GLikely pathogenic
Select item 219189	NM_001371986.1(UNC80):c.1078C>T (p.Arg360Ter)	UNC80 (R360*)	Single nucleotide variant (nonsense)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +3 more	GPathogenic/Likely pathogenic
Select item 219188	NM_001371986.1(UNC80):c.3787C>T (p.Arg1263Ter)	LOC121725110, UNC80 (R1265* +2 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 8395	NM_000100.4(CSTB):c.67-1G>C	CSTB	Single nucleotide variant (splice acceptor variant)	Unverricht-Lundborg syndrome +6 more	GPathogenic
Select item 4724	NM_019109.5(ALG1):c.773C>T (p.Ser258Leu)	ALG1 (S147L)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation +4 more	GPathogenic/Likely pathogenic

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Items: 21