Related gene-specific medical variations for Gene (Select 55607) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3217733	NM_001166160.2(PPP1R9A):c.3020T>C (p.Met1007Thr)	LOC126860112, PPP1R9A (M985T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217732	NM_001166160.2(PPP1R9A):c.3019A>G (p.Met1007Val)	LOC126860112, PPP1R9A (M1007V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3217731	NM_001166160.2(PPP1R9A):c.3004G>T (p.Gly1002Trp)	LOC126860112, PPP1R9A (G962W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217730	NM_001166160.2(PPP1R9A):c.2935G>A (p.Asp979Asn)	LOC126860112, PPP1R9A (D957N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217729	NM_001166160.2(PPP1R9A):c.2930C>T (p.Pro977Leu)	LOC126860112, PPP1R9A (P955L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217728	NM_001166160.2(PPP1R9A):c.2899G>A (p.Glu967Lys)	LOC126860112, PPP1R9A (E945K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217727	NM_001166160.2(PPP1R9A):c.2867T>G (p.Leu956Arg)	LOC126860112, PPP1R9A (L956R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3058883	NM_001166160.2(PPP1R9A):c.3116G>A (p.Arg1039Gln)	LOC126860112, PPP1R9A (R1017Q +2 more)	Single nucleotide variant (missense variant +1 more)	PPP1R9A-related disorder	GBenign
Select item 3037786	NM_001166160.2(PPP1R9A):c.3124+9A>C	LOC126860112, PPP1R9A	Single nucleotide variant (intron variant)	PPP1R9A-related disorder	GBenign
Select item 3037317	NM_001166160.2(PPP1R9A):c.2889G>A (p.Thr963=)	LOC126860112, PPP1R9A	Single nucleotide variant (synonymous variant +1 more)	PPP1R9A-related disorder	GLikely benign
Select item 2561047	NM_001166160.2(PPP1R9A):c.1522G>C (p.Glu508Gln)	PPP1R9A, PPP1R9A-AS1 (E508Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556884	NM_001166160.2(PPP1R9A):c.3014C>T (p.Ser1005Phe)	LOC126860112, PPP1R9A (S983F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542290	NM_001166160.2(PPP1R9A):c.1886A>G (p.Asp629Gly)	PPP1R9A, PPP1R9A-AS1 (D629G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535359	NM_001166160.2(PPP1R9A):c.1907T>G (p.Leu636Trp)	PPP1R9A, PPP1R9A-AS1 (L636W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470417	NM_001166160.2(PPP1R9A):c.1900G>A (p.Ala634Thr)	PPP1R9A, PPP1R9A-AS1 (A634T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353200	NM_001166160.2(PPP1R9A):c.3090C>A (p.His1030Gln)	LOC126860112, PPP1R9A (H990Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292968	NM_001166160.2(PPP1R9A):c.1908G>T (p.Leu636Phe)	PPP1R9A, PPP1R9A-AS1 (L636F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285457	NM_001166160.2(PPP1R9A):c.2939G>A (p.Ser980Asn)	LOC126860112, PPP1R9A (S940N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278872	NM_001166160.2(PPP1R9A):c.1422C>G (p.Asp474Glu)	PPP1R9A, PPP1R9A-AS1 (D474E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273823	NM_001166160.2(PPP1R9A):c.2817G>C (p.Glu939Asp)	LOC126860112, PPP1R9A (E917D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233364	NM_001166160.2(PPP1R9A):c.1793A>T (p.Glu598Val)	PPP1R9A, PPP1R9A-AS1 (E598V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783494	NM_001166160.2(PPP1R9A):c.3012C>G (p.Leu1004=)	LOC126860112, PPP1R9A	Single nucleotide variant (synonymous variant +1 more)	PPP1R9A-related disorder +1 more	GBenign
Select item 719439	NM_001166160.2(PPP1R9A):c.1512A>G (p.Pro504=)	PPP1R9A, PPP1R9A-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 394273	GRCh37/hg19 7q21.3(chr7:94399796-94606785)x3	PPP1R9A	Copy number gain	See cases	GLikely benign

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Items: 24