ClinVar for MedGen (Select 381352) - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3584058	NM_007254.4(PNKP):c.1316G>A (p.Arg439Gln)	PNKP (R439Q)	Single nucleotide variant (missense variant)	Ataxia - oculomotor apraxia type 4 +2 more	GUncertain significance
Select item 3065388	NM_007254.4(PNKP):c.637-1G>C	PNKP	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth disease type 2B2	GLikely pathogenic
Select item 1453676	NM_007254.4(PNKP):c.721G>T (p.Glu241Ter)	PNKP (E241*)	Single nucleotide variant (nonsense)	Ataxia - oculomotor apraxia type 4 +4 more	GPathogenic/Likely pathogenic
Select item 974688	NM_030973.4(MED25):c.949G>T (p.Gly317Cys)	MED25 (G317C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B2 +1 more	GUncertain significance
Select item 973234	NM_030973.4(MED25):c.1628_1637del (p.Asn543fs)	MED25 (N543fs)	Deletion (frameshift variant)	Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome +2 more	GConflicting classifications of pathogenicity
Select item 854429	NM_007254.4(PNKP):c.1549C>T (p.Gln517Ter)	PNKP (Q517*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 12 +2 more	GConflicting classifications of pathogenicity
Select item 743299	NM_007254.4(PNKP):c.499-7A>C	PNKP	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B2 +3 more	GLikely benign
Select item 698358	NM_030973.4(MED25):c.633A>T (p.Thr211=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2B2 +2 more	GLikely benign
Select item 655582	NM_030973.4(MED25):c.751G>A (p.Ala251Thr)	MED25 (A251T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 471506	NM_007254.4(PNKP):c.58C>A (p.Pro20Thr)	PNKP (P20T)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 436354	NM_007254.4(PNKP):c.636+1G>T	PNKP	Single nucleotide variant (splice donor variant)	Microcephaly, seizures, and developmental delay +3 more	GPathogenic/Likely pathogenic
Select item 421749	NM_030973.4(MED25):c.316G>A (p.Gly106Arg)	MED25 (G106R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B2 +3 more	GConflicting classifications of pathogenicity
Select item 391407	NM_007254.4(PNKP):c.1009G>C (p.Glu337Gln)	PNKP (E337Q)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 329886	NM_030973.4(MED25):c.1675-7C>T	MED25	Single nucleotide variant (intron variant)	Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome +4 more	GBenign/Likely benign
Select item 221177	NM_030973.4(MED25):c.1483-7C>T	MED25	Single nucleotide variant (intron variant)	Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome +4 more	GBenign
Select item 216779	NM_030973.4(MED25):c.1438C>G (p.Leu480Val)	MED25 (L480V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +3 more	GUncertain significance
Select item 206429	NM_007254.4(PNKP):c.1317_1321dup (p.Ala441fs)	PNKP (A441fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease type 2B2 +3 more	GPathogenic/Likely pathogenic
Select item 206415	NM_007254.4(PNKP):c.1391G>C (p.Arg464Pro)	PNKP (R464P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12 +4 more	GUncertain significance
Select item 206401	NM_007254.4(PNKP):c.1029+2T>C	PNKP	Single nucleotide variant (splice donor variant)	Ataxia - oculomotor apraxia type 4 +6 more	GConflicting classifications of pathogenicity
Select item 198198	NM_007254.4(PNKP):c.625G>A (p.Glu209Lys)	PNKP (E209K)	Single nucleotide variant (missense variant)	Microcephaly, seizures, and developmental delay +5 more	GUncertain significance
Select item 197287	NM_007254.4(PNKP):c.290A>G (p.Asn97Ser)	PNKP (N97S)	Single nucleotide variant (missense variant)	Microcephaly, seizures, and developmental delay +5 more	GUncertain significance
Select item 194242	NM_007254.4(PNKP):c.1177C>T (p.His393Tyr)	PNKP (H393Y)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12 +4 more	GUncertain significance
Select item 190219	NM_007254.4(PNKP):c.1221_1223del (p.Thr408del)	PNKP (T408del)	Deletion (inframe_deletion)	Developmental and epileptic encephalopathy, 12 +3 more	GPathogenic/Likely pathogenic
Select item 159796	NM_007254.4(PNKP):c.498+23A>T	PNKP	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 159794	NM_007254.4(PNKP):c.416G>A (p.Arg139His)	PNKP (R139H)	Single nucleotide variant (missense variant)	Ataxia - oculomotor apraxia type 4 +6 more	GConflicting classifications of pathogenicity
Select item 138710	NM_007254.4(PNKP):c.636+7G>A	PNKP	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 95484	NM_007254.4(PNKP):c.579G>A (p.Arg193=)	PNKP	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 95483	NM_007254.4(PNKP):c.538C>A (p.Arg180Ser)	PNKP (R180S)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign
Select item 1324	NM_030973.4(MED25):c.1004C>T (p.Ala335Val)	MED25	Single nucleotide variant (missense variant)	Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome +4 more	GConflicting classifications of pathogenicity

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Items: 29