ClinVar for Gene (Select 5500) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3339090	NM_002709.3(PPP1CB):c.53-21_53-20del	PPP1CB	Deletion (intron variant)	not specified	GBenign
Select item 3309310	NM_002709.3(PPP1CB):c.111A>G (p.Leu37=)	PPP1CB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3256555	NM_002709.3(PPP1CB):c.493G>A (p.Asp165Asn)	PPP1CB (D165N)	Single nucleotide variant (missense variant)	Noonan syndrome-like disorder with loose anagen hair 2	GLikely pathogenic
Select item 3247619	NC_000002.11:g.(?_28999697)_(29001925_?)dup	PPP1CB	Duplication	not provided	GUncertain significance
Select item 3247618	NC_000002.11:g.(?_28974991)_(28975062_?)dup	PPP1CB	Duplication	not provided	GUncertain significance
Select item 3230213	NM_002709.3(PPP1CB):c.933T>C (p.Ser311=)	PPP1CB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3230212	NM_002709.3(PPP1CB):c.441G>A (p.Leu147=)	PPP1CB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3230211	NM_002709.3(PPP1CB):c.39C>T (p.Thr13=)	PPP1CB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3067272	NM_002709.3(PPP1CB):c.415+1159C>T	PPP1CB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3062642	GRCh37/hg19 2p23.2-23.1(chr2:28244046-30256324)x3	ALK, BABAM2 +9 more	Copy number gain	not specified	GUncertain significance
Select item 3050508	NM_002709.3(PPP1CB):c.879+8G>A	PPP1CB	Single nucleotide variant (intron variant)	PPP1CB-related disorder	GLikely benign
Select item 3038158	NM_002709.3(PPP1CB):c.42G>C (p.Arg14=)	PPP1CB	Single nucleotide variant (synonymous variant)	PPP1CB-related disorder	GLikely benign
Select item 3011103	NM_002709.3(PPP1CB):c.53-10C>T	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010977	NM_002709.3(PPP1CB):c.416-6T>G	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009938	NM_002709.3(PPP1CB):c.960A>G (p.Thr320=)	PPP1CB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008187	NM_002709.3(PPP1CB):c.13G>C (p.Glu5Gln)	PPP1CB (E5Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004725	NM_002709.3(PPP1CB):c.879+20A>G	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002349	NM_002709.3(PPP1CB):c.744+18C>G	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992472	NM_002709.3(PPP1CB):c.184+13G>A	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992336	NM_002709.3(PPP1CB):c.744+14A>C	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992305	NM_002709.3(PPP1CB):c.956G>A (p.Arg319Gln)	PPP1CB (R319Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991641	NM_002709.3(PPP1CB):c.153T>G (p.Leu51=)	PPP1CB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989960	NM_002709.3(PPP1CB):c.695G>A (p.Ser232Asn)	PPP1CB (S232N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986836	NM_002709.3(PPP1CB):c.53-16A>G	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972866	NM_002709.3(PPP1CB):c.521-14C>G	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969607	NM_002709.3(PPP1CB):c.521-7T>C	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966322	NM_002709.3(PPP1CB):c.883T>C (p.Leu295=)	PPP1CB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964846	NM_002709.3(PPP1CB):c.943G>A (p.Val315Ile)	PPP1CB (V315I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2958423	NM_002709.3(PPP1CB):c.516T>C (p.His172=)	PPP1CB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891989	NM_002709.3(PPP1CB):c.983_*15dup (p.Arg327_Ter328=)	PPP1CB	Duplication (no sequence alteration)	not provided	GUncertain significance
Select item 2881189	NM_002709.3(PPP1CB):c.771T>C (p.Phe257=)	PPP1CB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878399	NM_002709.3(PPP1CB):c.185-18G>T	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877168	NM_002709.3(PPP1CB):c.744+15A>G	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872235	NM_002709.3(PPP1CB):c.925C>T (p.Leu309=)	PPP1CB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870849	NM_002709.3(PPP1CB):c.357C>A (p.Leu119=)	PPP1CB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870534	NM_002709.3(PPP1CB):c.285A>G (p.Arg95=)	PPP1CB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869749	NM_002709.3(PPP1CB):c.879+16A>G	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869305	NM_002709.3(PPP1CB):c.891A>T (p.Pro297=)	PPP1CB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2858240	NM_002709.3(PPP1CB):c.624A>G (p.Pro208=)	PPP1CB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2856476	NM_002709.3(PPP1CB):c.706A>G (p.Asn236Asp)	PPP1CB (N236D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2853641	NM_002709.3(PPP1CB):c.297T>G (p.Ser99=)	PPP1CB	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2846001	NM_002709.3(PPP1CB):c.521-14C>T	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2842833	NM_002709.3(PPP1CB):c.139A>G (p.Ser47Gly)	PPP1CB (S47G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2830612	NM_002709.3(PPP1CB):c.53-11T>C	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2822424	NM_002709.3(PPP1CB):c.831T>C (p.Asn277=)	PPP1CB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2810931	NM_002709.3(PPP1CB):c.415+14A>C	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2804083	NM_002709.3(PPP1CB):c.415+16G>T	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2796814	NM_002709.3(PPP1CB):c.539A>C (p.Gln180Pro)	PPP1CB (Q180P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2793832	NM_002709.3(PPP1CB):c.592+2dup	PPP1CB	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 2792571	NM_002709.3(PPP1CB):c.52+8C>T	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2790829	NM_002709.3(PPP1CB):c.184+20T>A	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2788539	NM_002709.3(PPP1CB):c.63T>C (p.Cys21=)	PPP1CB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2785236	NM_002709.3(PPP1CB):c.744+10A>G	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2781941	NM_002709.3(PPP1CB):c.53-5G>A	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2781365	NM_002709.3(PPP1CB):c.879+14A>G	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2778110	NM_002709.3(PPP1CB):c.123T>C (p.Ser41=)	PPP1CB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2777738	NM_002709.3(PPP1CB):c.20A>C (p.Asn7Thr)	PPP1CB (N7T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2775866	NM_002709.3(PPP1CB):c.744+12A>G	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2765455	NM_002709.3(PPP1CB):c.53-18T>G	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2760088	NM_002709.3(PPP1CB):c.46C>T (p.Leu16=)	PPP1CB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2754786	NM_002709.3(PPP1CB):c.891A>G (p.Pro297=)	PPP1CB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2753257	NM_002709.3(PPP1CB):c.93A>G (p.Glu31=)	PPP1CB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2746919	NM_002709.3(PPP1CB):c.185-11del	PPP1CB	Deletion (intron variant)	not provided	GLikely benign
Select item 2743400	NM_002709.3(PPP1CB):c.416-15C>G	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2717966	NM_002709.3(PPP1CB):c.840A>C (p.Gly280=)	PPP1CB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2707012	NM_002709.3(PPP1CB):c.745-9del	PPP1CB	Deletion (intron variant)	not provided	GLikely benign
Select item 2704105	NM_002709.3(PPP1CB):c.357C>G (p.Leu119=)	PPP1CB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650783	NM_002709.3(PPP1CB):c.520+36dup	PPP1CB	Duplication (intron variant)	not provided	GBenign
Select item 2650782	NM_002709.3(PPP1CB):c.126G>A (p.Arg42=)	PPP1CB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650781	NM_002709.3(PPP1CB):c.104G>A (p.Arg35Gln)	PPP1CB (R35Q)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2650780	NM_002709.3(PPP1CB):c.-1G>C	PPP1CB	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2637301	NM_002709.3(PPP1CB):c.142C>G (p.Gln48Glu)	PPP1CB (Q48E)	Single nucleotide variant (missense variant)	PPP1CB-related disorder	GUncertain significance
Select item 2633494	NM_002709.3(PPP1CB):c.71G>T (p.Gly24Val)	PPP1CB (G24V)	Single nucleotide variant (missense variant)	PPP1CB-related disorder	GUncertain significance
Select item 2629844	NM_002709.3(PPP1CB):c.280G>C (p.Asp94His)	PPP1CB (D94H)	Single nucleotide variant (missense variant)	PPP1CB-related disorder	GUncertain significance
Select item 2580045	NM_002709.3(PPP1CB):c.205A>T (p.Thr69Ser)	PPP1CB (T69S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504248	NM_002709.3(PPP1CB):c.808A>G (p.Asn270Asp)	PPP1CB (N270D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504232	NM_002709.3(PPP1CB):c.145C>A (p.Pro49Thr)	PPP1CB (P49T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2449538	NM_002709.3(PPP1CB):c.276T>C (p.Tyr92=)	PPP1CB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2427541	NC_000002.11:g.(?_24443763)_(29022169_?)dup	ABHD1, ADCY3 +65 more	Duplication	not provided	GUncertain significance
Select item 2425074	NC_000002.11:g.(?_24443763)_(30143525_?)dup	ADGRF3, AGBL5 +72 more	Duplication	not provided	GUncertain significance
Select item 2283695	NM_002709.3(PPP1CB):c.364G>A (p.Gly122Arg)	PPP1CB (G122R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2231503	NM_002709.3(PPP1CB):c.755A>G (p.Asp252Gly)	PPP1CB (D252G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 2188725	NM_002709.3(PPP1CB):c.387C>T (p.Ile129=)	PPP1CB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2131528	NM_002709.3(PPP1CB):c.214C>T (p.Leu72=)	PPP1CB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2126156	NM_002709.3(PPP1CB):c.972G>C (p.Pro324=)	PPP1CB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2125766	NM_002709.3(PPP1CB):c.38C>T (p.Thr13Ile)	PPP1CB (T13I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2123024	NM_002709.3(PPP1CB):c.415+5G>A	PPP1CB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2122497	NM_002709.3(PPP1CB):c.185-15T>C	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2119675	NM_002709.3(PPP1CB):c.156G>A (p.Leu52=)	PPP1CB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2119199	NM_002709.3(PPP1CB):c.744+19T>C	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2113868	NM_002709.3(PPP1CB):c.416-13G>A	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2109569	NM_002709.3(PPP1CB):c.185-14C>T	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2091069	NM_002709.3(PPP1CB):c.220T>A (p.Leu74Ile)	PPP1CB (L74I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2032529	NM_002709.3(PPP1CB):c.416-17A>C	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2031195	NM_002709.3(PPP1CB):c.593-5del	PPP1CB	Deletion (intron variant)	not provided	GLikely benign
Select item 2029379	NM_002709.3(PPP1CB):c.504C>T (p.Ile168=)	PPP1CB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1996744	NM_002709.3(PPP1CB):c.415+7G>C	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1988632	NM_002709.3(PPP1CB):c.261T>C (p.Leu87=)	PPP1CB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1979162	NM_002709.3(PPP1CB):c.171G>A (p.Pro57=)	PPP1CB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign

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