ClinVar for MedGen (Select 1684840) - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3075721	NM_017951.5(SMPD4):c.1904C>T (p.Ala635Val)	SMPD4 (A572V +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies	GLikely pathogenic
Select item 3065110	NM_017951.5(SMPD4):c.649C>T (p.Pro217Ser)	SMPD4 (P183S +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies	GUncertain significance
Select item 3065042	NM_017951.5(SMPD4):c.127-2A>G	SMPD4	Single nucleotide variant (intron variant +1 more)	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies	GLikely pathogenic
Select item 3064542	NM_017951.5(SMPD4):c.1660-28_1666del	SMPD4	Deletion (splice acceptor variant)	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies	GLikely pathogenic
Select item 3062306	NM_017951.5(SMPD4):c.202dup (p.Leu68fs)	SMPD4 (L107fs +1 more)	Duplication (frameshift variant +2 more)	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies	GLikely pathogenic
Select item 3062305	NM_017951.5(SMPD4):c.2242_2260del (p.Ser748fs)	SMPD4 (S685fs +2 more)	Deletion (frameshift variant +1 more)	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies	GLikely pathogenic
Select item 2582580	NM_017951.5(SMPD4):c.784_785del (p.Leu262fs)	SMPD4 (L228fs +2 more)	Microsatellite (frameshift variant +1 more)	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies	GLikely pathogenic
Select item 2582531	NM_017951.5(SMPD4):c.2316_2333dup (p.Arg778_Thr779insPheLeuGlySerTyrArg)	SMPD4	Duplication (inframe_insertion +1 more)	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies	GUncertain significance
Select item 2579260	GRCh38/hg38 2q21.1(chr2:130099219-130374931)x1	CCDC115, CCDC74B +19 more	Copy number loss	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies	GPathogenic
Select item 2498125	NM_017951.5(SMPD4):c.270-1G>A	SMPD4	Single nucleotide variant (intron variant +1 more)	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies	GPathogenic
Select item 2442024	NM_017951.5(SMPD4):c.-117A>T	SMPD4 (M1L)	Single nucleotide variant (missense variant +3 more)	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies	GUncertain significance
Select item 2436208	NM_017951.5(SMPD4):c.1693A>G (p.Lys565Glu)	SMPD4 (K502E +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies	GUncertain significance
Select item 2433656	NM_017951.5(SMPD4):c.1961_1962delinsC (p.Lys654fs)	SMPD4 (K591fs +2 more)	Indel (frameshift variant +1 more)	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies	GLikely pathogenic
Select item 2433653	NM_017951.5(SMPD4):c.2074G>T (p.Glu692Ter)	SMPD4 (E629* +2 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies	GLikely pathogenic
Select item 1806112	NM_017951.5(SMPD4):c.812T>G (p.Leu271Arg)	SMPD4 (L237R +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies	GUncertain significance
Select item 1805905	NM_017951.5(SMPD4):c.2374_2375del (p.Leu792fs)	SMPD4 (L729fs +2 more)	Microsatellite (frameshift variant +1 more)	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies	GUncertain significance
Select item 1805741	NM_017951.5(SMPD4):c.-43del	SMPD4 (W25fs)	Deletion (frameshift variant +2 more)	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies	GPathogenic
Select item 1686221	NM_017951.5(SMPD4):c.792+2T>G	SMPD4	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies	GPathogenic
Select item 1684150	NM_017951.5(SMPD4):c.546_547del (p.Ala183fs)	SMPD4 (A149fs +2 more)	Microsatellite (frameshift variant +1 more)	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies	GLikely pathogenic
Select item 1333145	NM_017951.5(SMPD4):c.345+33G>A	SMPD4	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies	GBenign
Select item 1333144	NM_017951.5(SMPD4):c.1097+27A>G	SMPD4	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies	GBenign
Select item 1333143	NM_017951.5(SMPD4):c.2025+45C>T	SMPD4	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies	GBenign
Select item 1262775	NM_017951.5(SMPD4):c.735G>A (p.Thr245=)	SMPD4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1172611	NM_017951.5(SMPD4):c.1137CTT[1] (p.Phe380del)	SMPD4 (F317del +2 more)	Microsatellite (inframe_deletion +1 more)	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies +1 more	GConflicting classifications of pathogenicity
Select item 1172610	NM_017951.5(SMPD4):c.1174del (p.Ala392fs)	SMPD4 (A329fs +2 more)	Deletion (frameshift variant +1 more)	Abnormal cerebral morphology +1 more	GConflicting classifications of pathogenicity
Select item 1030617	NM_017951.5(SMPD4):c.1893+2T>C	SMPD4	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies	GLikely pathogenic
Select item 870339	NM_017951.5(SMPD4):c.2164C>T (p.Gln722Ter)	SMPD4 (Q761* +3 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies	GUncertain significance
Select item 870338	NM_017951.5(SMPD4):c.575T>C (p.Leu192Pro)	SMPD4 (L158P +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies	GLikely pathogenic
Select item 870337	NM_017951.5(SMPD4):c.253G>T (p.Glu85Ter)	SMPD4 (E124* +1 more)	Single nucleotide variant (nonsense +2 more)	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies	GLikely pathogenic
Select item 870336	NM_017951.5(SMPD4):c.1865C>T (p.Ala622Val)	SMPD4 (A632V +3 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies	GUncertain significance
Select item 691973	NM_017951.5(SMPD4):c.1356_1362del (p.Leu453fs)	SMPD4 (L390fs +3 more)	Deletion (frameshift variant +1 more)	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies	GPathogenic
Select item 691972	NM_017951.5(SMPD4):c.1220C>T (p.Pro407Leu)	SMPD4 (P446L +3 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies	GUncertain significance
Select item 691971	NM_017951.5(SMPD4):c.82C>T (p.Gln28Ter)	SMPD4 (Q67* +1 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies	GLikely pathogenic
Select item 691970	NM_017951.5(SMPD4):c.345+1G>T	SMPD4	Single nucleotide variant (intron variant +1 more)	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies	GPathogenic
Select item 691969	NM_017951.5(SMPD4):c.1453+1G>A	SMPD4	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies	GPathogenic
Select item 691968	NM_017951.5(SMPD4):c.1290-9G>A	SMPD4	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies	GPathogenic

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Items: 36