ClinVar for Gene (Select 84919) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3340325	NM_032833.5(PPP1R15B):c.448C>T (p.Gln150Ter)	PPP1R15B (Q150*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3309373	NM_032833.5(PPP1R15B):c.489G>C (p.Lys163Asn)	PPP1R15B (K163N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3309371	NM_032833.5(PPP1R15B):c.1960G>A (p.Gly654Ser)	PPP1R15B (G654S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3309370	NM_032833.5(PPP1R15B):c.946C>G (p.Pro316Ala)	PPP1R15B (P316A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3309369	NM_032833.5(PPP1R15B):c.752A>G (p.Gln251Arg)	PPP1R15B (Q251R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3309368	NM_032833.5(PPP1R15B):c.1913G>C (p.Arg638Thr)	PPP1R15B (R638T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3309367	NM_032833.5(PPP1R15B):c.634C>G (p.Arg212Gly)	PPP1R15B (R212G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 3217513	NM_032833.5(PPP1R15B):c.959A>G (p.Asn320Ser)	PPP1R15B (N320S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3217511	NM_032833.5(PPP1R15B):c.672C>A (p.Asn224Lys)	PPP1R15B (N224K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3217510	NM_032833.5(PPP1R15B):c.272T>G (p.Met91Arg)	PPP1R15B (M91R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3217509	NM_032833.5(PPP1R15B):c.1868T>C (p.Val623Ala)	PPP1R15B (V623A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3217508	NM_032833.5(PPP1R15B):c.1757G>T (p.Arg586Leu)	PPP1R15B (R586L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3217507	NM_032833.5(PPP1R15B):c.1558C>G (p.Leu520Val)	PPP1R15B (L520V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3217506	NM_032833.5(PPP1R15B):c.1258G>C (p.Ala420Pro)	PPP1R15B (A420P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3217505	NM_032833.5(PPP1R15B):c.1166A>T (p.Glu389Val)	PPP1R15B (E389V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2905788	NM_032833.5(PPP1R15B):c.1792A>G (p.Ile598Val)	PPP1R15B (I598V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2890553	NM_032833.5(PPP1R15B):c.1764_1766del (p.Lys589del)	PPP1R15B (K589del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2876299	NM_032833.5(PPP1R15B):c.1242C>T (p.Pro414=)	PPP1R15B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2876295	NM_032833.5(PPP1R15B):c.1615G>A (p.Glu539Lys)	PPP1R15B (E539K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875411	NM_032833.5(PPP1R15B):c.1998A>G (p.Ala666=)	PPP1R15B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875293	NM_032833.5(PPP1R15B):c.1447A>G (p.Ser483Gly)	PPP1R15B (S483G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870542	NM_032833.5(PPP1R15B):c.1292G>C (p.Gly431Ala)	PPP1R15B (G431A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2870212	NM_032833.5(PPP1R15B):c.2137T>C (p.Cys713Arg)	PPP1R15B (C713R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870043	NM_032833.5(PPP1R15B):c.1879G>A (p.Val627Ile)	PPP1R15B (V627I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867664	NM_032833.5(PPP1R15B):c.1514A>G (p.Glu505Gly)	PPP1R15B (E505G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867345	NM_032833.5(PPP1R15B):c.1590T>C (p.Pro530=)	PPP1R15B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2842514	NM_032833.5(PPP1R15B):c.1117C>G (p.Pro373Ala)	PPP1R15B (P373A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2829248	NM_032833.5(PPP1R15B):c.1574A>G (p.Gln525Arg)	PPP1R15B (Q525R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2807527	NM_032833.5(PPP1R15B):c.487A>G (p.Lys163Glu)	PPP1R15B (K163E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2797369	NM_032833.5(PPP1R15B):c.1030A>C (p.Thr344Pro)	PPP1R15B (T344P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2775630	NM_032833.5(PPP1R15B):c.241G>C (p.Val81Leu)	PPP1R15B (V81L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2749583	NM_032833.5(PPP1R15B):c.1866G>A (p.Ser622=)	PPP1R15B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2734414	NM_032833.5(PPP1R15B):c.1920+12G>A	PPP1R15B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2721225	NM_032833.5(PPP1R15B):c.562A>G (p.Ser188Gly)	PPP1R15B (S188G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2696049	NM_032833.5(PPP1R15B):c.1272A>G (p.Lys424=)	PPP1R15B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639827	NM_032833.5(PPP1R15B):c.555G>C (p.Leu185=)	PPP1R15B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617300	NM_032833.5(PPP1R15B):c.1271A>G (p.Lys424Arg)	PPP1R15B (K424R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613762	NM_032833.5(PPP1R15B):c.703G>C (p.Glu235Gln)	PPP1R15B (E235Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579632	NM_032833.5(PPP1R15B):c.1762del (p.Ser588fs)	PPP1R15B (S588fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2579631	NM_032833.5(PPP1R15B):c.217C>T (p.Pro73Ser)	PPP1R15B (P73S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575690	NM_032833.5(PPP1R15B):c.511G>A (p.Ala171Thr)	PPP1R15B (A171T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2556553	NM_032833.5(PPP1R15B):c.842G>A (p.Gly281Glu)	PPP1R15B (G281E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535293	NM_032833.5(PPP1R15B):c.299C>T (p.Ala100Val)	PPP1R15B (A100V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2501853	NM_032833.5(PPP1R15B):c.1457del (p.Pro486fs)	PPP1R15B (P486fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2492075	NM_032833.5(PPP1R15B):c.1347T>A (p.Asp449Glu)	PPP1R15B (D449E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483099	NM_032833.5(PPP1R15B):c.166C>G (p.Pro56Ala)	PPP1R15B (P56A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470519	NM_032833.5(PPP1R15B):c.819A>C (p.Glu273Asp)	PPP1R15B (E273D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2435224	NM_032833.5(PPP1R15B):c.644A>G (p.Asn215Ser)	PPP1R15B (N215S)	Single nucleotide variant (missense variant)	Microcephaly, short stature, and impaired glucose metabolism 2	GUncertain significance
Select item 2435223	NM_032833.5(PPP1R15B):c.1733C>G (p.Ser578Ter)	PPP1R15B (S578*)	Single nucleotide variant (nonsense)	Microcephaly, short stature, and impaired glucose metabolism 2	GUncertain significance
Select item 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	ADIPOR1, ADORA1 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	ADIPOR1, ADORA1 +110 more	Duplication	not provided	GUncertain significance
Select item 2410951	NM_032833.5(PPP1R15B):c.1240C>T (p.Pro414Ser)	PPP1R15B (P414S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401854	NM_032833.5(PPP1R15B):c.116C>T (p.Pro39Leu)	PPP1R15B (P39L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398132	NM_032833.5(PPP1R15B):c.189G>C (p.Trp63Cys)	PPP1R15B (W63C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2396451	NM_032833.5(PPP1R15B):c.165G>C (p.Gln55His)	PPP1R15B (Q55H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359916	NM_032833.5(PPP1R15B):c.577C>T (p.Arg193Cys)	PPP1R15B (R193C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358425	NM_032833.5(PPP1R15B):c.223C>G (p.Pro75Ala)	PPP1R15B (P75A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325183	NM_032833.5(PPP1R15B):c.1536G>C (p.Lys512Asn)	PPP1R15B (K512N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311819	NM_032833.5(PPP1R15B):c.2100G>C (p.Gln700His)	PPP1R15B (Q700H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290493	NM_032833.5(PPP1R15B):c.1465C>T (p.Pro489Ser)	PPP1R15B (P489S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278625	NM_032833.5(PPP1R15B):c.1617G>C (p.Glu539Asp)	PPP1R15B (E539D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259544	NM_032833.5(PPP1R15B):c.639A>G (p.Ile213Met)	PPP1R15B (I213M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231850	NM_032833.5(PPP1R15B):c.871C>T (p.Pro291Ser)	PPP1R15B (P291S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228399	NM_032833.5(PPP1R15B):c.266G>A (p.Gly89Asp)	PPP1R15B (G89D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226757	NM_032833.5(PPP1R15B):c.74T>A (p.Phe25Tyr)	PPP1R15B (F25Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220761	NM_032833.5(PPP1R15B):c.1636A>G (p.Ser546Gly)	PPP1R15B (S546G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2215576	NM_032833.5(PPP1R15B):c.884A>G (p.His295Arg)	PPP1R15B (H295R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214340	NM_032833.5(PPP1R15B):c.587C>T (p.Ser196Phe)	PPP1R15B (S196F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2214015	NM_032833.5(PPP1R15B):c.2134C>A (p.Gln712Lys)	PPP1R15B (Q712K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2199626	NM_032833.5(PPP1R15B):c.455C>T (p.Ser152Leu)	PPP1R15B (S152L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2198757	NM_032833.5(PPP1R15B):c.1243A>G (p.Ile415Val)	PPP1R15B (I415V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2192408	NM_032833.5(PPP1R15B):c.606T>A (p.Ser202=)	PPP1R15B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2186014	NM_032833.5(PPP1R15B):c.1997C>T (p.Ala666Val)	PPP1R15B (A666V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2179866	NM_032833.5(PPP1R15B):c.845G>C (p.Cys282Ser)	PPP1R15B (C282S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2167928	NM_032833.5(PPP1R15B):c.1451T>C (p.Val484Ala)	PPP1R15B (V484A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2167596	NM_032833.5(PPP1R15B):c.659C>T (p.Ser220Phe)	PPP1R15B (S220F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2150256	NM_032833.5(PPP1R15B):c.940C>T (p.Pro314Ser)	PPP1R15B (P314S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2149244	NM_032833.5(PPP1R15B):c.61T>C (p.Trp21Arg)	PPP1R15B (W21R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2143386	NM_032833.5(PPP1R15B):c.969C>T (p.His323=)	PPP1R15B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2132054	NM_032833.5(PPP1R15B):c.819A>G (p.Glu273=)	PPP1R15B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2124604	NM_032833.5(PPP1R15B):c.467T>C (p.Leu156Pro)	PPP1R15B (L156P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2121603	NM_032833.5(PPP1R15B):c.777C>T (p.Cys259=)	PPP1R15B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2113547	NM_032833.5(PPP1R15B):c.62G>A (p.Trp21Ter)	PPP1R15B (W21*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2113114	NM_032833.5(PPP1R15B):c.57G>C (p.Arg19=)	PPP1R15B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2113113	NM_032833.5(PPP1R15B):c.923= (p.Ser308=)	PPP1R15B	Variation (no sequence alteration)	not provided	GBenign
Select item 2112260	NM_032833.5(PPP1R15B):c.1A>G (p.Met1Val)	PPP1R15B (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2111429	NM_032833.5(PPP1R15B):c.457C>T (p.Pro153Ser)	PPP1R15B (P153S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2105485	NM_032833.5(PPP1R15B):c.344C>G (p.Pro115Arg)	PPP1R15B (P115R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2104883	NM_032833.5(PPP1R15B):c.1124C>G (p.Ala375Gly)	PPP1R15B (A375G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2103262	NM_032833.5(PPP1R15B):c.191C>T (p.Thr64Met)	PPP1R15B (T64M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2100578	NM_032833.5(PPP1R15B):c.1104A>G (p.Leu368=)	PPP1R15B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2087665	NM_032833.5(PPP1R15B):c.97T>G (p.Ser33Ala)	PPP1R15B (S33A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2087642	NM_032833.5(PPP1R15B):c.243G>A (p.Val81=)	PPP1R15B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2087415	NM_032833.5(PPP1R15B):c.1731A>G (p.Thr577=)	PPP1R15B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2079005	NM_032833.5(PPP1R15B):c.463G>A (p.Asp155Asn)	PPP1R15B (D155N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2069208	NM_032833.5(PPP1R15B):c.368C>A (p.Ser123Tyr)	PPP1R15B (S123Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2063158	NM_032833.5(PPP1R15B):c.1717G>C (p.Ala573Pro)	PPP1R15B (A573P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2061424	NM_032833.5(PPP1R15B):c.788A>C (p.Asp263Ala)	PPP1R15B (D263A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2060911	NM_032833.5(PPP1R15B):c.710G>A (p.Ser237Asn)	PPP1R15B (S237N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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