ClinVar for MedGen (Select 1380260) - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065124	NM_001031689.3(PLAA):c.1496G>A (p.Arg499His)	PLAA (R476H +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	GUncertain significance
Select item 2497674	NM_001031689.3(PLAA):c.1800G>A (p.Trp600Ter)	PLAA (W577* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	GLikely pathogenic
Select item 2434916	NM_001031689.3(PLAA):c.1036C>A (p.Pro346Thr)	PLAA (P346T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	GUncertain significance
Select item 2430379	NM_001031689.3(PLAA):c.215G>A (p.Cys72Tyr)	PLAA (C72Y)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	GUncertain significance
Select item 2013465	NM_001031689.3(PLAA):c.1957_1958delinsAT (p.Pro653Ile)	PLAA (P630I +1 more)	Indel (missense variant)	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies +1 more	GUncertain significance
Select item 1806265	NM_001031689.3(PLAA):c.1570C>T (p.Arg524Ter)	PLAA (R501* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	GLikely pathogenic
Select item 1701741	NM_001031689.3(PLAA):c.481C>T (p.Pro161Ser)	PLAA (P161S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1659125	NM_001031689.3(PLAA):c.1486+6A>T	PLAA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1440518	NM_001031689.3(PLAA):c.1068C>G (p.Ile356Met)	PLAA (I356M)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies +2 more	GUncertain significance
Select item 1333605	NM_001031689.3(PLAA):c.850_860del (p.Asp284fs)	PLAA (D284fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	GLikely pathogenic
Select item 1333483	NM_001031689.3(PLAA):c.340A>G (p.Thr114Ala)	PLAA (T114A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1033219	NM_001031689.3(PLAA):c.911C>G (p.Thr304Arg)	PLAA (T304R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1033218	NM_001031689.3(PLAA):c.-16C>T	PLAA	Single nucleotide variant (5 prime UTR variant)	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	GUncertain significance
Select item 1033217	NM_001031689.3(PLAA):c.1370G>C (p.Gly457Ala)	PLAA (G457A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1030979	NM_001031689.3(PLAA):c.2323T>C (p.Tyr775His)	PLAA (Y752H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 975039	NM_001031689.3(PLAA):c.829T>C (p.Cys277Arg)	PLAA	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	GPathogenic
Select item 975038	NM_001031689.3(PLAA):c.1049A>T (p.Glu350Val)	PLAA	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	GPathogenic
Select item 973095	NM_001031689.3(PLAA):c.2264A>G (p.Asp755Gly)	PLAA (D755G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 828067	NM_001031689.3(PLAA):c.120C>G (p.Asp40Glu)	PLAA (D40E)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	GPathogenic
Select item 812649	NM_016146.6(TRAPPC4):c.454+3A>G	TRAPPC4	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy +2 more	GPathogenic/Likely pathogenic
Select item 807466	NM_001031689.3(PLAA):c.240_241insTAG (p.Pro81Ter)	PLAA (P81*)	Insertion (nonsense)	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	GPathogenic
Select item 780798	NM_001031689.3(PLAA):c.957C>T (p.His319=)	PLAA	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 694395	NM_001031689.3(PLAA):c.2350del (p.Lys783_Val784insTer)	PLAA	Deletion (nonsense)	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	GLikely pathogenic
Select item 427942	NM_001031689.3(PLAA):c.68dup (p.Leu24fs)	PLAA (L24fs)	Duplication (frameshift variant)	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	GPathogenic
Select item 427941	NM_001031689.3(PLAA):c.68G>T (p.Gly23Val)	PLAA (G23V)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	GPathogenic
Select item 427940	NM_001031689.3(PLAA):c.2254C>T (p.Leu752Phe)	PLAA (L752F +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	GPathogenic
Select item 242318	NM_001348768.2(HECW2):c.3988C>T (p.Arg1330Trp)	HECW2 (R1330W +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic

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Items: 27