ClinVar for Gene (Select 51400) - ClinVar

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Links from Gene

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3309300	NM_016147.3(PPME1):c.372A>T (p.Glu124Asp)	PPME1 (E124D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217388	NM_016147.3(PPME1):c.840G>C (p.Lys280Asn)	PPME1 (K294N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217386	NM_016147.3(PPME1):c.691A>G (p.Met231Val)	PPME1 (M231V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217385	NM_016147.3(PPME1):c.47G>T (p.Arg16Leu)	PPME1 (R16L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685411	GRCh37/hg19 11q13.4(chr11:72308632-74236530)x1	ARAP1, ARAP1-AS2 +25 more	Copy number loss	not provided	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2606884	NM_016147.3(PPME1):c.817A>C (p.Lys273Gln)	PPME1 (K273Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514667	NM_016147.3(PPME1):c.1091C>G (p.Ala364Gly)	P4HA3, PPME1 (A378G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458598	NM_016147.3(PPME1):c.803T>C (p.Ile268Thr)	PPME1 (I268T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426953	NC_000011.9:g.(?_71146421)_(75283128_?)dup	ANAPC15, ARAP1 +63 more	Duplication	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2395408	NM_016147.3(PPME1):c.920A>G (p.Asn307Ser)	PPME1 (N321S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358164	NM_016147.3(PPME1):c.1144G>A (p.Val382Met)	P4HA3, PPME1 (V382M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316964	NM_016147.3(PPME1):c.293C>A (p.Ala98Glu)	PPME1 (A98E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274357	NM_016147.3(PPME1):c.1150C>T (p.Pro384Ser)	P4HA3, PPME1 (P384S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243514	NM_016147.3(PPME1):c.536T>A (p.Met179Lys)	PPME1 (M179K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 22