ClinVar for MedGen (Select 99124) - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1330183	GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1	ADCK2, AGBL3 +105 more	Copy number loss	Small face +7 more	GPathogenic
Select item 1120267	NM_018017.4(CCDC186):c.767C>G (p.Ser256Ter)	CCDC186 (S256*)	Single nucleotide variant (nonsense +1 more)	EEG with spike-wave complexes +9 more	GPathogenic
Select item 917488	NM_181336.4(LEMD2):c.1436C>T (p.Ser479Phe)	LEMD2 (S177F +2 more)	Single nucleotide variant (missense variant)	Reduced bone mineral density +18 more	GLikely pathogenic
Select item 598964	NM_001031689.3(PLAA):c.1487-1G>A	PLAA	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases +10 more	GConflicting classifications of pathogenicity
Select item 523361	NM_000352.6(ABCC8):c.1793G>A (p.Arg598Gln)	ABCC8 (R598Q +1 more)	Single nucleotide variant (missense variant +1 more)	Hypoglycemia +11 more	GLikely pathogenic
Select item 504485	NM_015693.4(INTU):c.1354G>A (p.Ala452Thr)	INTU, LOC126807151 (A452T)	Single nucleotide variant (missense variant)	INTU-related condition +2 more	GConflicting classifications of pathogenicity
Select item 431698	NM_005085.4(NUP214):c.5521+10del	NUP214	Deletion (intron variant)	Developmental delay +2 more	GLikely pathogenic
Select item 373988	NM_003995.4(NPR2):c.779A>T (p.Glu260Val)	NPR2 (E260V)	Single nucleotide variant (missense variant)	Growth delay +3 more	GLikely pathogenic
Select item 373987	NM_003995.4(NPR2):c.2162_2172del (p.Ser721fs)	NPR2 (S721fs +1 more)	Deletion (frameshift variant)	Growth delay +3 more	GLikely pathogenic
Select item 373964	NM_001271.4(CHD2):c.949A>G (p.Ile317Val)	CHD2 (I317V)	Single nucleotide variant (missense variant)	CNS hypomyelination +10 more	GLikely benign
Select item 373963	NM_001374353.1(GLI2):c.254G>C (p.Gly85Ala)	GLI2 (G85A)	Single nucleotide variant (missense variant +1 more)	CNS hypomyelination +10 more	GLikely benign
Select item 373936	NM_020533.3(MCOLN1):c.378C>G (p.Tyr126Ter)	MCOLN1 (Y126*)	Single nucleotide variant (nonsense)	Intellectual disability +6 more	GLikely pathogenic
Select item 373935	NM_020533.3(MCOLN1):c.777+1G>C	MCOLN1	Single nucleotide variant (splice donor variant)	Mucolipidosis type IV	GPathogenic
Select item 267945	46;XY;t(1;18)(q32.1;q22.1)		Translocation	Mild global developmental delay +5 more	GUncertain significance
Select item 267943	46;XX;t(4;13)(q31.3;q14.3)dn		Translocation	Microcephaly +7 more	GUncertain significance
Select item 267910	46;XX;t(11;17)(q13;q25)dn		Translocation	Growth delay +7 more	GUncertain significance
Select item 267896	46;XX;t(2;8)(q33;p21)dn		Translocation	Intellectual disability, severe +5 more	GLikely pathogenic
Select item 267885	46;XY;t(2;6)(q33;q21)dn		Translocation	Intellectual disability +7 more	GPathogenic
Select item 267876	46;XY;t(2;6)(q32.3;q25.3)dn		Translocation	Growth delay +3 more	GLikely pathogenic
Select item 267867	46;XX;t(6;15)(q23;q22)dn		Translocation	Cerebral calcification +12 more	GLikely pathogenic
Select item 267857	46;XX;inv(5)(q14q35)dn		Inversion	Global developmental delay +14 more	GPathogenic
Select item 267850	46;XY;t(8;10)(q13;p13)dn		Translocation	Hypertelorism +13 more	GPathogenic
Select item 267833	46;XY;t(6;12)(q14;q24);20p+dn		Complex	Growth delay +14 more	GPathogenic
Select item 267830	46;X;t(X;5)(q24;q13)dn		Translocation	Limb joint contracture +20 more	GPathogenic
Select item 267821	46;XX;t(3;12)(q13.2;q14)dn		Translocation	Craniosynostosis syndrome +16 more	GPathogenic
Select item 267820	46;XY;t(16;20)(q11.2;q13.2)dn		Translocation	Cryptorchidism +10 more	GUncertain significance
Select item 224716	NM_002074.5(GNB1):c.284T>C (p.Leu95Pro)	GNB1 (L95P)	Single nucleotide variant (5 prime UTR variant +1 more)	Hypotonia +2 more	GPathogenic/Likely pathogenic
Select item 224715	NM_002074.5(GNB1):c.239T>A (p.Ile80Asn)	GNB1 (I80N)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal dominant 42 +2 more	GPathogenic
Select item 224714	NM_002074.5(GNB1):c.233A>G (p.Lys78Arg)	GNB1 (K78R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 223153	NM_018129.4(PNPO):c.674G>A (p.Arg225His)	PNPO (R225H)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures +2 more	GPathogenic
Select item 208722	NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)	GNB1 (I80T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +7 more	GPathogenic/Likely pathogenic
Select item 194090	NM_014780.5(CUL7):c.2563A>G (p.Lys855Glu)	CUL7 (K855E +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 35609	NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met)	ABCC8 (V1173M +3 more)	Single nucleotide variant (missense variant +1 more)	Monogenic diabetes +4 more	GUncertain significance
Select item 16332	NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys)	FGFR3 (R248C)	Single nucleotide variant (missense variant +1 more)	FGFR3-related chondrodysplasia +32 more	GPathogenic

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Items: 34