PPM1B[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	ABCG5, ABCG8 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 147991	GRCh38/hg38 2p21(chr2:43676810-45016061)x3	ABCG5, ABCG8 +34 more	Copy number gain	See cases	GUncertain significance
Select item 146326	GRCh38/hg38 2p21(chr2:43762375-44960289)x3	ABCG5, ABCG8 +32 more	Copy number gain	See cases	GUncertain significance
Select item 785963	NM_002706.6(PPM1B):c.52G>A (p.Ala18Thr)	PPM1B (A18T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3217318	NM_002706.6(PPM1B):c.220C>T (p.His74Tyr)	PPM1B (H74Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 750311	NM_002706.6(PPM1B):c.396A>T (p.Ser132=)	PPM1B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2603986	NM_002706.6(PPM1B):c.413T>C (p.Met138Thr)	PPM1B (M138T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217319	NM_002706.6(PPM1B):c.433T>C (p.Tyr145His)	PPM1B (Y145H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 722715	NM_002706.6(PPM1B):c.444C>T (p.Asn148=)	PPM1B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2299632	NM_002706.6(PPM1B):c.458G>A (p.Arg153His)	PPM1B (R153H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341838	NM_002706.6(PPM1B):c.470A>G (p.Tyr157Cys)	PPM1B (Y157C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301198	NM_002706.6(PPM1B):c.478G>A (p.Gly160Arg)	PPM1B (G160R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 810944	NM_002706.6(PPM1B):c.481C>G (p.Gln161Glu)	PPM1B (Q161E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217321	NM_002706.6(PPM1B):c.494C>T (p.Ser165Phe)	PPM1B (S165F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593093	NM_002706.6(PPM1B):c.532G>A (p.Glu178Lys)	PPM1B (E178K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217322	NM_002706.6(PPM1B):c.568C>G (p.Gln190Glu)	PPM1B (Q190E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607314	NM_002706.6(PPM1B):c.601G>A (p.Ala201Thr)	PPM1B (A201T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322513	NM_002706.6(PPM1B):c.809A>G (p.Asn270Ser)	PPM1B (N270S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209135	NM_002706.6(PPM1B):c.818A>G (p.Asn273Ser)	PPM1B (N273S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291684	NM_002706.6(PPM1B):c.831C>G (p.Asp277Glu)	PPM1B (D277E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217323	NM_002706.6(PPM1B):c.949G>C (p.Glu317Gln)	PPM1B (E30Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222139	NM_002706.6(PPM1B):c.955C>T (p.Arg319Trp)	PPM1B (R32W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217324	NM_002706.6(PPM1B):c.976A>G (p.Lys326Glu)	PPM1B (K326E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724393	NM_002706.6(PPM1B):c.984C>T (p.Gly328=)	PPM1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3217325	NM_002706.6(PPM1B):c.996G>A (p.Met332Ile)	PPM1B (M45I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217315	NM_002706.6(PPM1B):c.1018C>T (p.Arg340Cys)	PPM1B (R340C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401489	NM_002706.6(PPM1B):c.1127G>A (p.Ser376Asn)	PPM1B (S376N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 788956	NM_002706.6(PPM1B):c.1134+14_1134+18del	PPM1B	Microsatellite (intron variant)	not provided	GBenign
Select item 767794	NM_002706.6(PPM1B):c.1134+10A>G	PPM1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 708633	NM_002706.6(PPM1B):c.1141G>A (p.Asp381Asn)	PPM1B (D381N +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2476950	NM_002706.6(PPM1B):c.1194A>T (p.Gln398His)	PPM1B (Q111H +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 752491	NM_002706.6(PPM1B):c.1194A>G (p.Gln398=)	PPM1B	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3217316	NM_002706.6(PPM1B):c.1222C>G (p.Arg408Gly)	PPM1B (R121G +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3217317	NM_002706.6(PPM1B):c.1249A>G (p.Ser417Gly)	PPM1B (S417G +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2278870	NM_002706.6(PPM1B):c.1397C>G (p.Ser466Cys)	PPM1B (S466C +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 3247230	NC_000002.11:g.(?_44001278)_(45236249_?)del	ABCG5, ABCG8 +8 more	Deletion	Holoprosencephaly 2	GPathogenic
Select item 2684475	GRCh37/hg19 2p21(chr2:44352121-44462340)x1	PPM1B	Copy number loss	not provided	GUncertain significance
Select item 2422665	NC_000002.11:g.(?_38121051)_(47710088_?)dup	ABCG5, ABCG8 +52 more	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 684922	GRCh37/hg19 2p21(chr2:44438045-44546016)x1	PPM1B, SLC3A1 +1 more	Copy number loss	not provided	GPathogenic
Select item 562680	GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3	ABCG5, ABCG8 +100 more	Copy number gain	not provided	GPathogenic
Select item 562542	GRCh37/hg19 2p21(chr2:44412415-44621042)x1	SLC3A1, PPM1B +2 more	Copy number loss	not provided	GUncertain significance
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442534	GRCh37/hg19 2p21(chr2:43386188-45013725)x3	ABCG5, ABCG8 +9 more	Copy number gain	See cases	GLikely pathogenic
Select item 429039	NC_000002.11:g.38121110_47669522inv	GEMIN6, HAAO +52 more	Inversion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 402127	GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3	ABCG5, ABCG8 +139 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 52