84919[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 545154	NC_000001.11:g.(?_204033173)_(208209798_?)del	LOC129932391, PIK3C2B +278 more	Deletion	Autism	GLikely pathogenic
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 2214015	NM_032833.5(PPP1R15B):c.2134C>A (p.Gln712Lys)	PPP1R15B (Q712K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2018167	NM_032833.5(PPP1R15B):c.2123A>C (p.Asn708Thr)	PPP1R15B (N708T)	Single nucleotide variant (missense variant)	not provided	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 2875411	NM_032833.5(PPP1R15B):c.1998A>G (p.Ala666=)	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 798855	NM_032833.5(PPP1R15B):c.1983A>G (p.Pro661=)	PPP1R15B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2018668	NM_032833.5(PPP1R15B):c.1973G>T (p.Arg658Leu)	PPP1R15B (R658L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 807902	NM_032833.5(PPP1R15B):c.1973G>A (p.Arg658His)	PPP1R15B (R658H)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 222030	NM_032833.5(PPP1R15B):c.1972C>T (p.Arg658Cys)	PPP1R15B (R658C)	Single nucleotide variant (missense variant)	Microcephaly, short stature, and impaired glucose metabolism 2	GPathogenic
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 1974664	NM_032833.5(PPP1R15B):c.1953T>C (p.Tyr651=)	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 2000293	NM_032833.5(PPP1R15B):c.1920+9C>T	PPP1R15B	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 716902	NM_032833.5(PPP1R15B):c.1886C>G (p.Ser629Cys)	PPP1R15B (S629C)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
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 3217509	NM_032833.5(PPP1R15B):c.1868T>C (p.Val623Ala)	PPP1R15B (V623A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1971986	NM_032833.5(PPP1R15B):c.1836G>A (p.Leu612=)	PPP1R15B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2060810	NM_032833.5(PPP1R15B):c.1829A>T (p.Gln610Leu)	PPP1R15B (Q610L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 2006520	NM_032833.5(PPP1R15B):c.1790C>T (p.Ala597Val)	PPP1R15B (A597V)	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 2039413	NM_032833.5(PPP1R15B):c.1765A>G (p.Lys589Glu)	PPP1R15B (K589E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2579632	NM_032833.5(PPP1R15B):c.1762del (p.Ser588fs)	PPP1R15B (S588fs)	Deletion (frameshift variant)	not provided	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 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 2087415	NM_032833.5(PPP1R15B):c.1731A>G (p.Thr577=)	PPP1R15B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2026514	NM_032833.5(PPP1R15B):c.1724T>A (p.Phe575Tyr)	PPP1R15B (F575Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1973526	NM_032833.5(PPP1R15B):c.1721C>A (p.Pro574His)	PPP1R15B (P574H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 1997242	NM_032833.5(PPP1R15B):c.1712T>C (p.Phe571Ser)	PPP1R15B (F571S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 436407	NM_032833.5(PPP1R15B):c.1694C>T (p.Pro565Leu)	PPP1R15B (P565L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1336388	NM_032833.5(PPP1R15B):c.1692C>T (p.Asp564=)	PPP1R15B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 2278625	NM_032833.5(PPP1R15B):c.1617G>C (p.Glu539Asp)	PPP1R15B (E539D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1972186	NM_032833.5(PPP1R15B):c.1612G>C (p.Gly538Arg)	PPP1R15B (G538R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 2829248	NM_032833.5(PPP1R15B):c.1574A>G (p.Gln525Arg)	PPP1R15B (Q525R)	Single nucleotide variant (missense variant)	not provided	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 2325183	NM_032833.5(PPP1R15B):c.1536G>C (p.Lys512Asn)	PPP1R15B (K512N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 444192	NM_032833.5(PPP1R15B):c.1516G>A (p.Glu506Lys)	PPP1R15B (E506K)	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 2290493	NM_032833.5(PPP1R15B):c.1465C>T (p.Pro489Ser)	PPP1R15B (P489S)	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 2167928	NM_032833.5(PPP1R15B):c.1451T>C (p.Val484Ala)	PPP1R15B (V484A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1993645	NM_032833.5(PPP1R15B):c.1441T>C (p.Phe481Leu)	PPP1R15B (F481L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1336154	NM_032833.5(PPP1R15B):c.1407A>T (p.Glu469Asp)	PPP1R15B (E469D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 591459	NM_032833.5(PPP1R15B):c.1342_1362del (p.Trp448_Asp454del)	PPP1R15B	Deletion (inframe_deletion)	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 796320	NM_032833.5(PPP1R15B):c.1308C>T (p.Asp436=)	PPP1R15B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2696049	NM_032833.5(PPP1R15B):c.1272A>G (p.Lys424=)	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 3217506	NM_032833.5(PPP1R15B):c.1258G>C (p.Ala420Pro)	PPP1R15B (A420P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2876299	NM_032833.5(PPP1R15B):c.1242C>T (p.Pro414=)	PPP1R15B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3217505	NM_032833.5(PPP1R15B):c.1166A>T (p.Glu389Val)	PPP1R15B (E389V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2842514	NM_032833.5(PPP1R15B):c.1117C>G (p.Pro373Ala)	PPP1R15B (P373A)	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 2003017	NM_032833.5(PPP1R15B):c.1088A>G (p.Glu363Gly)	PPP1R15B (E363G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1993344	NM_032833.5(PPP1R15B):c.1065A>C (p.Gly355=)	PPP1R15B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1998837	NM_032833.5(PPP1R15B):c.1045G>A (p.Ala349Thr)	PPP1R15B (A349T)	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 2019736	NM_032833.5(PPP1R15B):c.1008A>G (p.Pro336=)	PPP1R15B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1694543	NM_032833.5(PPP1R15B):c.987C>T (p.His329=)	PPP1R15B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2143386	NM_032833.5(PPP1R15B):c.969C>T (p.His323=)	PPP1R15B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3309370	NM_032833.5(PPP1R15B):c.946C>G (p.Pro316Ala)	PPP1R15B (P316A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 757532	NM_032833.5(PPP1R15B):c.930G>T (p.Gly310=)	PPP1R15B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2113113	NM_032833.5(PPP1R15B):c.923= (p.Ser308=)	PPP1R15B	Variation (no sequence alteration)	not provided	GBenign
Select item 775165	NM_032833.5(PPP1R15B):c.923G>A (p.Ser308Asn)	PPP1R15B (S308N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2011663	NM_032833.5(PPP1R15B):c.903G>T (p.Leu301=)	PPP1R15B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2231850	NM_032833.5(PPP1R15B):c.871C>T (p.Pro291Ser)	PPP1R15B (P291S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2059979	NM_032833.5(PPP1R15B):c.868C>G (p.Leu290Val)	PPP1R15B (L290V)	Single nucleotide variant (missense variant)	not provided	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 2556553	NM_032833.5(PPP1R15B):c.842G>A (p.Gly281Glu)	PPP1R15B (G281E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2026149	NM_032833.5(PPP1R15B):c.840G>C (p.Gln280His)	PPP1R15B (Q280H)	Single nucleotide variant (missense variant)	not provided	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 2132054	NM_032833.5(PPP1R15B):c.819A>G (p.Glu273=)	PPP1R15B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 713035	NM_032833.5(PPP1R15B):c.782G>A (p.Arg261Lys)	PPP1R15B (R261K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2121603	NM_032833.5(PPP1R15B):c.777C>T (p.Cys259=)	PPP1R15B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1975144	NM_032833.5(PPP1R15B):c.733A>G (p.Ser245Gly)	PPP1R15B (S245G)	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
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 3217511	NM_032833.5(PPP1R15B):c.672C>A (p.Asn224Lys)	PPP1R15B (N224K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1972839	NM_032833.5(PPP1R15B):c.668T>A (p.Leu223Gln)	PPP1R15B (L223Q)	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 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

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