Related gene-specific medical variations for Gene (Select 5526) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3217800	NM_006244.4(PPP2R5B):c.553G>A (p.Val185Met)	LOC126861234, PPP2R5B (V185M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2990603	NM_006244.4(PPP2R5B):c.426G>A (p.Pro142=)	LOC126861234, PPP2R5B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2853369	NM_006244.4(PPP2R5B):c.498+9G>A	LOC126861234, PPP2R5B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2832970	NM_006244.4(PPP2R5B):c.533G>T (p.Ser178Ile)	LOC126861234, PPP2R5B (S178I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2710717	NM_006244.4(PPP2R5B):c.661T>C (p.Tyr221His)	PPP2R5B, LOC126861234 (Y221H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2641943	NM_006244.4(PPP2R5B):c.722G>A (p.Arg241Gln)	LOC126861234, PPP2R5B (R241Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2641942	NM_006244.4(PPP2R5B):c.438C>A (p.Asn146Lys)	LOC126861234, PPP2R5B (N146K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1955089	NM_006244.4(PPP2R5B):c.424C>G (p.Pro142Ala)	PPP2R5B, LOC126861234 (P142A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1612757	NM_006244.4(PPP2R5B):c.483G>A (p.Ser161=)	LOC126861234, PPP2R5B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1553821	NM_006244.4(PPP2R5B):c.453T>C (p.Pro151=)	LOC126861234, PPP2R5B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1410548	NM_006244.4(PPP2R5B):c.601C>G (p.Leu201Val)	LOC126861234, PPP2R5B (L201V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1381040	NM_006244.4(PPP2R5B):c.521G>A (p.Arg174His)	LOC126861234, PPP2R5B (R174H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 217453	NM_006244.4(PPP2R5B):c.482C>T (p.Ser161Leu)	LOC126861234, PPP2R5B (S161L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance