"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "DBNL"[gene - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2657417	NM_001014436.3(DBNL):c.123C>T (p.Arg41=)	DBNL (A9V)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2657418	NM_001014436.3(DBNL):c.707C>T (p.Thr236Met)	DBNL (T133M +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3024739	NM_001014436.3(DBNL):c.957C>T (p.Pro319=)	DBNL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 360270	NM_000290.4(PGAM2):c.726C>T (p.Ala242=)	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	PGAM2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2059166	NM_000290.4(PGAM2):c.713C>T (p.Thr238Met)	DBNL, PGAM2 (T238M)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 440991	NM_000290.4(PGAM2):c.707A>C (p.Glu236Ala)	DBNL, PGAM2 (E236A)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X +2 more	GConflicting classifications of pathogenicity
Select item 911381	NM_000290.4(PGAM2):c.480T>C (p.Ile160=)	DBNL, LOC129998341 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 513506	NM_001014436.3(DBNL):c.*4099G>A	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X +1 more	GConflicting classifications of pathogenicity
Select item 360274	NM_000290.4(PGAM2):c.375G>A (p.Pro125=)	LOC129998342, DBNL +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 360275	NM_000290.4(PGAM2):c.366G>A (p.Pro122=)	DBNL, LOC129998342 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X +3 more	GBenign/Likely benign
Select item 507813	NM_000290.4(PGAM2):c.264T>C (p.Asn88=)	DBNL, LOC129998343 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 529224	NM_000290.4(PGAM2):c.119G>A (p.Arg40Gln)	DBNL, PGAM2 (R40Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X +1 more	GConflicting classifications of pathogenicity
Select item 493558	GRCh37/hg19 7p13(chr7:43884184-44297732)x3	AEBP1, CAMK2B +11 more	Copy number gain	not provided	GLikely benign