PPM1F[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 59279	GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3	LOC130067034, LOC130067035 +535 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 150466	GRCh38/hg38 22q11.21-11.22(chr22:18178932-22562620)x3	LOC130066994, LOC130066995 +287 more	Copy number gain	See cases	GPathogenic
Select item 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	See cases	GPathogenic
Select item 152705	GRCh38/hg38 22q11.21-11.23(chr22:18339130-23480799)x1	AIFM3, ARVCF +378 more	Copy number loss	See cases	GPathogenic
Select item 58214	GRCh38/hg38 22q11.21-11.22(chr22:20668552-22358488)x3	AIFM3, CCDC116 +123 more	Copy number gain	See cases	GPathogenic
Select item 145536	GRCh38/hg38 22q11.21-11.22(chr22:20671366-22088366)x3	AIFM3, CCDC116 +101 more	Copy number gain	See cases	GUncertain significance
Select item 57261	GRCh38/hg38 22q11.21-11.22(chr22:20671366-22046408)x3	AIFM3, CCDC116 +101 more	Copy number gain	See cases	GPathogenic
Select item 147737	GRCh38/hg38 22q11.21-11.23(chr22:20726972-24197852)x1	AIFM3, BCR +265 more	Copy number loss	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 154610	GRCh38/hg38 22q11.21-11.22(chr22:21151069-22489199)x3	CCDC116, FAM230B +94 more	Copy number gain	See cases	GUncertain significance
Select item 148420	GRCh38/hg38 22q11.21-11.22(chr22:21151069-22617194)x1	CCDC116, FAM230B +102 more	Copy number loss	See cases	GPathogenic
Select item 148419	GRCh38/hg38 22q11.21-11.22(chr22:21151069-22617194)x3	CCDC116, FAM230B +102 more	Copy number gain	See cases	GUncertain significance
Select item 57332	GRCh38/hg38 22q11.21-11.22(chr22:21151069-22562663)x1	CCDC116, FAM230B +99 more	Copy number loss	See cases	GPathogenic
Select item 150486	GRCh38/hg38 22q11.21-11.22(chr22:21151097-22562620)x1	CCDC116, FAM230B +99 more	Copy number loss	See cases	GPathogenic
Select item 149700	GRCh38/hg38 22q11.21-11.23(chr22:21207181-24247140)x3	BCR, C22orf15 +229 more	Copy number gain	See cases	GUncertain significance
Select item 59326	GRCh38/hg38 22q11.21-11.23(chr22:21386914-23305976)x3	BCR, CCDC116 +177 more	Copy number gain	See cases	GPathogenic
Select item 59253	GRCh38/hg38 22q11.21-11.23(chr22:21443815-23397298)x1	BCR, CCDC116 +180 more	Copy number loss	See cases	GPathogenic
Select item 59252	GRCh38/hg38 22q11.21-11.23(chr22:21443815-24235645)x1	BCR, C22orf15 +223 more	Copy number loss	See cases	GPathogenic
Select item 147610	GRCh38/hg38 22q11.21-11.22(chr22:21444416-22574173)x1	CCDC116, HIC2 +90 more	Copy number loss	See cases	GPathogenic
Select item 153062	GRCh38/hg38 22q11.21-11.22(chr22:21447344-22655838)x1	CCDC116, GGTLC2 +94 more	Copy number loss	See cases	GPathogenic
Select item 146777	GRCh38/hg38 22q11.21-11.22(chr22:21454649-22562620)x1	CCDC116, IGL +89 more	Copy number loss	See cases	GPathogenic
Select item 146776	GRCh38/hg38 22q11.21-11.22(chr22:21454649-22562620)x3	CCDC116, IGL +89 more	Copy number gain	See cases	GPathogenic
Select item 155200	GRCh38/hg38 22q11.21-11.22(chr22:21454661-22617194)x1	CCDC116, IGL +92 more	Copy number loss	See cases	GPathogenic
Select item 148699	GRCh38/hg38 22q11.21-11.23(chr22:21454661-23312035)x1	LOC129929044, LOC129929045 +176 more	Copy number loss	See cases	GPathogenic
Select item 148615	GRCh38/hg38 22q11.21-11.23(chr22:21454661-24247140)x1	BCR, C22orf15 +223 more	Copy number loss	See cases	GPathogenic
Select item 146442	GRCh38/hg38 22q11.21-11.23(chr22:21454661-23414686)x1	BCR, CCDC116 +179 more	Copy number loss	See cases	GPathogenic
Select item 59327	GRCh38/hg38 22q11.21-11.23(chr22:21454661-23414686)x3	BCR, CCDC116 +179 more	Copy number gain	See cases	GPathogenic
Select item 32689	GRCh38/hg38 22q11.21-11.22(chr22:21454661-22562663)x1	CCDC116, IGL +89 more	Copy number loss	See cases	GPathogenic/Likely pathogenic
Select item 59264	GRCh38/hg38 22q11.21-11.23(chr22:21457690-24220231)x1	BCR, C22orf15 +222 more	Copy number loss	See cases	GPathogenic
Select item 59267	GRCh38/hg38 22q11.21-11.23(chr22:21562911-24307688)x1	BCR, C22orf15 +227 more	Copy number loss	See cases	GPathogenic
Select item 151375	GRCh38/hg38 22q11.21-11.22(chr22:21583391-22647760)x3	CCDC116, GGTLC2 +86 more	Copy number gain	See cases	GPathogenic
Select item 57444	GRCh38/hg38 22q11.21-11.22(chr22:21603122-22562663)x1	CCDC116, IGL +80 more	Copy number loss	See cases	GPathogenic
Select item 59328	GRCh38/hg38 22q11.21-11.22(chr22:21623411-22651271)x3	CCDC116, GGTLC2 +84 more	Copy number gain	See cases	GPathogenic
Select item 59283	GRCh38/hg38 22q11.21-11.23(chr22:21623411-23315617)x1	BCR, CCDC116 +168 more	Copy number loss	See cases	GPathogenic
Select item 59282	GRCh38/hg38 22q11.21-11.22(chr22:21623411-22617259)x1	CCDC116, IGL +83 more	Copy number loss	See cases	GPathogenic
Select item 2047621	NM_014634.4(PPM1F):c.1345C>G (p.Gln449Glu)	PPM1F (Q281E +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2035947	NM_014634.4(PPM1F):c.1259T>G (p.Leu420Arg)	PPM1F (L252R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2896715	NM_014634.4(PPM1F):c.1221G>A (p.Thr407=)	PPM1F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2143587	NM_014634.4(PPM1F):c.1193G>A (p.Arg398Gln)	PPM1F (R230Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3309274	NM_014634.4(PPM1F):c.1168G>A (p.Ala390Thr)	PPM1F (A222T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2692829	NM_014634.4(PPM1F):c.1163G>A (p.Arg388His)	PPM1F (R220H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2082633	NM_014634.4(PPM1F):c.1157G>A (p.Gly386Glu)	PPM1F (G386E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 769151	NM_014634.4(PPM1F):c.1155C>T (p.Ser385=)	PPM1F	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2454720	NM_014634.4(PPM1F):c.1132C>T (p.His378Tyr)	PPM1F (H378Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309272	NM_014634.4(PPM1F):c.1046C>T (p.Thr349Met)	PPM1F (T181M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366613	NM_014634.4(PPM1F):c.1037G>A (p.Arg346Gln)	PPM1F (R178Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1996422	NM_014634.4(PPM1F):c.1028C>G (p.Ala343Gly)	PPM1F (A175G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874553	NM_014634.4(PPM1F):c.1024G>A (p.Asp342Asn)	PPM1F (D342N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2719439	NM_014634.4(PPM1F):c.1017G>C (p.Gly339=)	PPM1F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955397	NM_014634.4(PPM1F):c.986-10G>T	PPM1F	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1988596	NM_014634.4(PPM1F):c.985+13G>A	PPM1F	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 769152	NM_014634.4(PPM1F):c.969C>A (p.Ala323=)	PPM1F	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2290835	NM_014634.4(PPM1F):c.962C>T (p.Thr321Ile)	PPM1F (T153I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1329853	NM_014634.4(PPM1F):c.904C>T (p.Arg302Cys)	PPM1F (R302C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1974020	NM_014634.4(PPM1F):c.903G>T (p.Ala301=)	PPM1F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023428	NM_014634.4(PPM1F):c.891+18C>A	PPM1F	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1901943	NM_014634.4(PPM1F):c.891+16C>T	PPM1F	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2747838	NM_014634.4(PPM1F):c.891+7G>T	PPM1F	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2224363	NM_014634.4(PPM1F):c.805G>A (p.Val269Ile)	PPM1F (V101I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2017232	NM_014634.4(PPM1F):c.795G>A (p.Ala265=)	PPM1F	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2043696	NM_014634.4(PPM1F):c.779C>T (p.Ala260Val)	PPM1F (A260V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2405471	NM_014634.4(PPM1F):c.760G>A (p.Gly254Ser)	PPM1F (G86S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1950337	NM_014634.4(PPM1F):c.747+16T>C	PPM1F	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1898310	NM_014634.4(PPM1F):c.747+14G>A	PPM1F	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2031326	NM_014634.4(PPM1F):c.714C>G (p.Thr238=)	PPM1F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2125093	NM_014634.4(PPM1F):c.685G>A (p.Gly229Arg)	PPM1F (G229R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2752417	NM_014634.4(PPM1F):c.655C>T (p.Arg219Cys)	PPM1F (R51C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2008200	NM_014634.4(PPM1F):c.648C>T (p.Asn216=)	PPM1F	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2289406	NM_014634.4(PPM1F):c.644C>G (p.Thr215Ser)	PPM1F (T215S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217340	NM_014634.4(PPM1F):c.638T>G (p.Val213Gly)	PPM1F (V213G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2894929	NM_014634.4(PPM1F):c.636C>T (p.His212=)	PPM1F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2790680	NM_014634.4(PPM1F):c.631G>A (p.Val211Ile)	PPM1F (V211I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2414001	NM_014634.4(PPM1F):c.559-13A>G	PPM1F	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1987803	NM_014634.4(PPM1F):c.558+13G>A	PPM1F	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2041466	NM_014634.4(PPM1F):c.555G>A (p.Leu185=)	PPM1F	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2702693	NM_014634.4(PPM1F):c.549C>T (p.Phe183=)	PPM1F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2764991	NM_014634.4(PPM1F):c.483C>T (p.Ala161=)	PPM1F	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 3217339	NM_014634.4(PPM1F):c.457C>T (p.Arg153Trp)	PPM1F (R153W)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3217337	NM_014634.4(PPM1F):c.427C>A (p.Gln143Lys)	PPM1F (Q143K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2977353	NM_014634.4(PPM1F):c.408C>T (p.Val136=)	PPM1F	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3309271	NM_014634.4(PPM1F):c.395G>A (p.Arg132His)	PPM1F (R132H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2033464	NM_014634.4(PPM1F):c.394C>T (p.Arg132Cys)	PPM1F (R132C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2000181	NM_014634.4(PPM1F):c.356-6C>T	PPM1F	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2038201	NM_014634.4(PPM1F):c.333GGA[1] (p.Glu113del)	PPM1F, PPM1F-AS1 (E113del)	Microsatellite (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2897101	NM_014634.4(PPM1F):c.315GGA[2] (p.Glu107del)	PPM1F, PPM1F-AS1 (E107del)	Microsatellite (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2047622	NM_014634.4(PPM1F):c.315G>A (p.Glu105=)	PPM1F, PPM1F-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GBenign
Select item 2045396	NM_014634.4(PPM1F):c.306AGA[2] (p.Glu107del)	PPM1F, PPM1F-AS1 (E107del)	Microsatellite (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3217336	NM_014634.4(PPM1F):c.307G>A (p.Glu103Lys)	PPM1F, PPM1F-AS1 (E103K)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2358826	NM_014634.4(PPM1F):c.244G>A (p.Glu82Lys)	PPM1F, PPM1F-AS1 (E82K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309273	NM_014634.4(PPM1F):c.241C>A (p.His81Asn)	PPM1F, PPM1F-AS1 (H81N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3309270	NM_014634.4(PPM1F):c.230C>T (p.Ala77Val)	PPM1F, PPM1F-AS1 (A77V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2066268	NM_014634.4(PPM1F):c.206+4G>T	PPM1F	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3217335	NM_014634.4(PPM1F):c.187A>G (p.Met63Val)	PPM1F (M63V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2054292	NM_014634.4(PPM1F):c.168C>T (p.Gly56=)	PPM1F	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2060191	NM_014634.4(PPM1F):c.140C>T (p.Thr47Met)	PPM1F (T47M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3217334	NM_014634.4(PPM1F):c.134C>T (p.Pro45Leu)	PPM1F (P45L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456170	NM_014634.4(PPM1F):c.56C>T (p.Thr19Ile)	PPM1F (T19I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3217338	NM_014634.4(PPM1F):c.44G>A (p.Gly15Glu)	PPM1F (G15E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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