C1855304[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 632426	NM_003619.4(PRSS12):c.2488_2489del (p.Met830fs)	PRSS12 (M830fs)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1029730	NM_003619.4(PRSS12):c.2040-1G>C	PRSS12	Single nucleotide variant (splice acceptor variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 347397	NM_003619.4(PRSS12):c.1640C>A (p.Ala547Asp)	PRSS12 (A547D)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1031342	NM_003619.4(PRSS12):c.1238A>G (p.Asp413Gly)	PRSS12 (D413G)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 1 +1 more	GConflicting classifications of pathogenicity
Select item 1031345	NM_003619.4(PRSS12):c.910G>A (p.Val304Ile)	PRSS12 (V304I)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 1031344	NM_003619.4(PRSS12):c.254C>A (p.Thr85Lys)	PRSS12 (T85K)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 1029732	NM_003619.4(PRSS12):c.235G>C (p.Ala79Pro)	PRSS12 (A79P)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1029729	NM_003619.4(PRSS12):c.121C>T (p.Pro41Ser)	PRSS12 (P41S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 1	GUncertain significance
Select item 440998	NM_003619.4(PRSS12):c.37G>A (p.Gly13Arg)	PRSS12 (G13R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 1 +1 more	GUncertain significance