ClinVar for MedGen (Select 1380860) - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3238736	NM_021222.3(PRUNE1):c.631A>T (p.Arg211Ter)	PRUNE1 (R211* +1 more)	Single nucleotide variant (nonsense +2 more)	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	GUncertain significance
Select item 3065362	NM_021222.3(PRUNE1):c.264G>C (p.Glu88Asp)	PRUNE1 (E88D +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	GUncertain significance
Select item 3065109	NM_021222.3(PRUNE1):c.1264G>T (p.Asp422Tyr)	PRUNE1 (D221Y +3 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	GUncertain significance
Select item 2579198	GRCh38/hg38 1q21.3(chr1:151017715-151018767)x0	PRUNE1	Copy number loss	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	GPathogenic
Select item 2072046	NM_021222.3(PRUNE1):c.1016A>G (p.Tyr339Cys)	PRUNE1 (Y286C +3 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies +1 more	GConflicting classifications of pathogenicity
Select item 1711748	NM_021222.3(PRUNE1):c.515T>C (p.Leu172Pro)	PRUNE1 (L172P)	Single nucleotide variant (5 prime UTR variant +2 more)	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	GPathogenic
Select item 1711747	NM_021222.3(PRUNE1):c.540T>A (p.Cys180Ter)	PRUNE1	Single nucleotide variant (5 prime UTR variant +3 more)	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	GPathogenic
Select item 1711746	NM_021222.3(PRUNE1):c.50dup (p.Leu18fs)	PRUNE1 (L18fs)	Duplication (5 prime UTR variant +2 more)	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	GPathogenic
Select item 1184491	NM_021222.3(PRUNE1):c.3G>A (p.Met1Ile)	PRUNE1 (M1I)	Single nucleotide variant (5 prime UTR variant +3 more)	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	GLikely pathogenic
Select item 1032877	NM_021222.3(PRUNE1):c.506C>T (p.Ala169Val)	PRUNE1 (A169V)	Single nucleotide variant (intron variant +2 more)	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	GUncertain significance
Select item 1029812	NM_021222.3(PRUNE1):c.56A>G (p.His19Arg)	PRUNE1 (H19R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 1029811	NM_021222.3(PRUNE1):c.436G>T (p.Gly146Trp)	PRUNE1 (G146W)	Single nucleotide variant (5 prime UTR variant +2 more)	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	GUncertain significance
Select item 978029	NM_021222.3(PRUNE1):c.933G>A (p.Thr311=)	PRUNE1	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 932732	NM_021222.3(PRUNE1):c.132+2T>C	PRUNE1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 813906	NM_021222.3(PRUNE1):c.115G>C (p.Ala39Pro)	PRUNE1 (A39P)	Single nucleotide variant (5 prime UTR variant +2 more)	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	GUncertain significance
Select item 813322	GRCh37/hg19 1q21.3(chr1:150990288-151016203)	BNIPL, PRUNE1	Copy number loss	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	GPathogenic
Select item 635401	NM_001378.3(DYNC1I2):c.868C>T (p.Gln290Ter)	DYNC1I2 (Q290* +3 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	GPathogenic
Select item 635400	NM_001378.3(DYNC1I2):c.740A>G (p.Tyr247Cys)	DYNC1I2 (Y247C +3 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	GPathogenic
Select item 592125	NM_021222.3(PRUNE1):c.901A>G (p.Ile301Val)	PRUNE1 (I301V +2 more)	Single nucleotide variant (intron variant +2 more)	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	GUncertain significance
Select item 430526	NM_021222.3(PRUNE1):c.196C>T (p.Arg66Ter)	PRUNE1 (R66*)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 427232	NM_021222.3(PRUNE1):c.889C>T (p.Arg297Trp)	PRUNE1 (R297W +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 427231	NM_021222.3(PRUNE1):c.160C>A (p.Pro54Thr)	PRUNE1 (P54T)	Single nucleotide variant (missense variant +2 more)	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	GPathogenic
Select item 402132	NM_021222.3(PRUNE1):c.520G>T (p.Gly174Ter)	PRUNE1 (G174*)	Single nucleotide variant (5 prime UTR variant +2 more)	Abnormal brain morphology	GLikely pathogenic
Select item 402131	NM_021222.3(PRUNE1):c.316G>A (p.Asp106Asn)	PRUNE1 (D106N)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 384335	NM_021222.3(PRUNE1):c.383G>A (p.Arg128Gln)	PRUNE1 (R128Q)	Single nucleotide variant (5 prime UTR variant +2 more)	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies +2 more	GPathogenic/Likely pathogenic
Select item 384334	NM_021222.3(PRUNE1):c.88G>A (p.Asp30Asn)	PRUNE1 (D30N)	Single nucleotide variant (5 prime UTR variant +2 more)	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies +2 more	GPathogenic/Likely pathogenic
Select item 265536	NM_021222.3(PRUNE1):c.521-2A>G	PRUNE1	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GLikely pathogenic

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Items: 27