Related gene-specific medical variations for Gene (Select 4659) - ClinVar - NCBI

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

Links from Gene

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382842	NM_002480.3(PPP1R12A):c.1550+2T>C	PPP1R12A	Single nucleotide variant (splice donor variant)	Genitourinary and/or brain malformation syndrome	GLikely pathogenic
Select item 3361752	NM_002480.3(PPP1R12A):c.787A>G (p.Lys263Glu)	PPP1R12A (K176E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3244364	NC_000012.11:g.(?_80114165)_(80221528_?)dup	PPP1R12A	Duplication	not provided	GLikely benign
Select item 3062288	NM_002480.3(PPP1R12A):c.508C>T (p.Arg170Ter)	PPP1R12A (R170* +1 more)	Single nucleotide variant (nonsense)	Genitourinary and/or brain malformation syndrome	GLikely pathogenic
Select item 2837996	NM_002480.3(PPP1R12A):c.95A>C (p.Gln32Pro)	LOC112163633, PPP1R12A (Q32P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2643188	NM_002480.3(PPP1R12A):c.2956-749G>A	PPP1R12A, PPP1R12A-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2637226	NM_002480.3(PPP1R12A):c.3092A>T (p.Ter1031Leu)	PPP1R12A, PPP1R12A-AS2	Single nucleotide variant (stop lost)	PPP1R12A-related disorder	GUncertain significance
Select item 2633322	NM_002480.3(PPP1R12A):c.220C>G (p.Leu74Val)	LOC112163633, PPP1R12A (L74V)	Single nucleotide variant (missense variant)	PPP1R12A-related disorder	GUncertain significance
Select item 2524365	NM_002480.3(PPP1R12A):c.176T>A (p.Leu59Gln)	LOC112163633, PPP1R12A (L59Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2442229	NM_002480.3(PPP1R12A):c.127del (p.Val43fs)	LOC112163633, PPP1R12A (V43fs)	Deletion (frameshift variant)	Genitourinary and/or brain malformation syndrome	GLikely pathogenic
Select item 2201002	NM_002480.3(PPP1R12A):c.132C>T (p.Phe44=)	LOC112163633, PPP1R12A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2068757	NM_002480.3(PPP1R12A):c.27G>A (p.Lys9=)	LOC112163633, PPP1R12A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1309399	NM_002480.3(PPP1R12A):c.3046G>A (p.Asp1016Asn)	PPP1R12A, PPP1R12A-AS2 (D1016N +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic