9276[HGNC] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +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 3309261	NM_002706.6(PPM1B):c.232C>T (p.His78Tyr)	PPM1B (H78Y)	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 3309262	NM_002706.6(PPM1B):c.847G>A (p.Gly283Arg)	PPM1B (G283R)	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 3309260	NM_002706.6(PPM1B):c.1028C>T (p.Ser343Phe)	PPM1B (S343F +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	CAMKMT, CDKL4 +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	ABCG5, KCNG3 +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

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Items: 55