ClinVar for Gene (Select 57184) - ClinVar

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Links from Gene

Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3277378	NM_020447.5(FAM219B):c.497A>T (p.Asp166Val)	FAM219B (D165V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277377	NM_020447.5(FAM219B):c.496G>T (p.Asp166Tyr)	FAM219B (D165Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277376	NM_020447.5(FAM219B):c.62G>A (p.Ser21Asn)	FAM219B (S21N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277375	NM_020447.5(FAM219B):c.332C>T (p.Ala111Val)	FAM219B (A111V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3243780	NC_000015.9:g.(?_74219125)_(77329517_?)del	ARID3B, C15orf39 +47 more	Deletion	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GUncertain significance
Select item 3092308	NM_020447.5(FAM219B):c.61A>G (p.Ser21Gly)	FAM219B (S21G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3092307	NM_020447.5(FAM219B):c.553T>C (p.Cys185Arg)	FAM219B (C184R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092306	NM_020447.5(FAM219B):c.532G>A (p.Ala178Thr)	FAM219B (A177T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092305	NM_020447.5(FAM219B):c.178A>G (p.Met60Val)	FAM219B (M60V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092304	NM_020447.5(FAM219B):c.15G>T (p.Glu5Asp)	FAM219B (E5D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092303	NM_020447.5(FAM219B):c.124G>A (p.Ala42Thr)	FAM219B (A42T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092302	NM_020447.5(FAM219B):c.101C>T (p.Pro34Leu)	FAM219B (P34L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063378	GRCh37/hg19 15q24.1-24.2(chr15:74823917-75455431)x3	ARID3B, CLK3 +14 more	Copy number gain	not specified	GUncertain significance
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2574692	GRCh37/hg19 15q24.1-24.2(chr15:72943184-76085232)	ADPGK, ARID3B +48 more	Copy number loss	Chromosome 15q24 deletion syndrome	GPathogenic
Select item 2545452	NM_020447.5(FAM219B):c.374C>A (p.Ser125Tyr)	FAM219B (S125Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528470	NM_020447.5(FAM219B):c.28G>C (p.Ala10Pro)	FAM219B (A10P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	AAGAB, ABHD17C +209 more	Copy number gain	not provided	GPathogenic
Select item 2483500	NM_020447.5(FAM219B):c.14A>G (p.Glu5Gly)	FAM219B (E5G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479944	NM_020447.5(FAM219B):c.524A>C (p.Lys175Thr)	FAM219B (K174T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467752	NM_020447.5(FAM219B):c.268G>T (p.Ala90Ser)	FAM219B (A90S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465985	NM_020447.5(FAM219B):c.529A>T (p.Met177Leu)	FAM219B (M176L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391739	NM_020447.5(FAM219B):c.142C>T (p.Arg48Cys)	FAM219B (R48C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345148	NM_020447.5(FAM219B):c.307G>C (p.Val103Leu)	FAM219B (V103L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316284	NM_020447.5(FAM219B):c.139G>A (p.Glu47Lys)	FAM219B (E47K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289260	NM_020447.5(FAM219B):c.55C>T (p.Arg19Trp)	FAM219B (R19W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265790	NM_020447.5(FAM219B):c.499G>A (p.Glu167Lys)	FAM219B (E166K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251481	NM_020447.5(FAM219B):c.432G>C (p.Gln144His)	FAM219B (Q144H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2244207	NM_020447.5(FAM219B):c.343A>C (p.Ser115Arg)	FAM219B (S115R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226630	NM_020447.5(FAM219B):c.541A>G (p.Thr181Ala)	FAM219B (T181A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1808905	GRCh37/hg19 15q24.1-24.2(chr15:75167794-75459288)x1	COX5A, FAM219B +4 more	Copy number loss	not provided	GUncertain significance
Select item 1808735	GRCh37/hg19 15q24.1-24.3(chr15:74353736-77884397)x1	ARID3B, C15orf39 +48 more	Copy number loss	not provided	GPathogenic
Select item 1703679	GRCh37/hg19 15q24.1-24.2(chr15:74398068-76054094)	ARID3B, C15orf39 +34 more	Copy number loss	Hearing impairment	GPathogenic
Select item 1353978	NC_000015.9:g.(?_72978569)_(75722716_?)del	ADPGK, ARID3B +41 more	Deletion	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980532	GRCh37/hg19 15q24.1-24.2(chr15:74398162-76054094)x1	ARID3B, C15orf39 +34 more	Copy number loss	not provided	GPathogenic
Select item 888284	NM_002435.3(MPI):c.*441G>C	MPI, FAM219B	Single nucleotide variant (3 prime UTR variant)	MPI-congenital disorder of glycosylation	GUncertain significance
Select item 887020	NM_002435.3(MPI):c.*312T>A	FAM219B, MPI	Single nucleotide variant (3 prime UTR variant)	MPI-congenital disorder of glycosylation	GUncertain significance
Select item 887019	NM_002435.3(MPI):c.*289A>G	FAM219B, MPI	Single nucleotide variant (3 prime UTR variant)	MPI-congenital disorder of glycosylation	GUncertain significance
Select item 815735	GRCh37/hg19 15q24.1-24.2(chr15:75039267-75268029)x1	CPLX3, COX5A +8 more	Copy number loss	not provided	GUncertain significance
Select item 815734	GRCh37/hg19 15q24.1-24.2(chr15:72943184-75567198)x1	ADPGK, ARID3B +37 more	Copy number loss	not provided	GPathogenic
Select item 688538	GRCh37/hg19 15q24.1-24.2(chr15:72943184-75544524)x1	ADPGK, ARID3B +36 more	Copy number loss	not provided	GPathogenic
Select item 687513	GRCh37/hg19 15q24.1-24.2(chr15:72963271-76064900)x3	ADPGK, ARID3B +47 more	Copy number gain	not provided	GPathogenic
Select item 687381	GRCh37/hg19 15q24.1-24.2(chr15:72926922-75544524)x1	ADPGK, ARID3B +36 more	Copy number loss	not provided	GPathogenic
Select item 564218	GRCh37/hg19 15q24.1-24.2(chr15:75078195-75862756)x1	SCAMP2, ULK3 +17 more	Copy number loss	not provided	GPathogenic
Select item 564215	GRCh37/hg19 15q24.1-24.2(chr15:72943184-76072324)x1	ADPGK, ARID3B +48 more	Copy number loss	not provided	GPathogenic
Select item 564214	GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3	ABHD17C, ABHD2 +215 more	Copy number gain	not provided	GPathogenic
Select item 560117	Single allele	ADPGK, ARID3B +37 more	Deletion	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 545183	Single allele	MIR6882, MPI +258 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 545182	Single allele	LOC130057525, LOC130057526 +205 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 443649	GRCh37/hg19 15q24.1-24.2(chr15:72943184-75567198)x1	ADPGK, ARID3B +37 more	Copy number loss	See cases	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 441056	GRCh37/hg19 15q24.1-24.2(chr15:72958539-76063285)x1	ADPGK, STOML1 +48 more	Copy number loss	not provided	Gnot provided
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 317150	NM_002435.3(MPI):c.*483G>C	FAM219B, MPI	Single nucleotide variant (3 prime UTR variant)	MPI-congenital disorder of glycosylation	GUncertain significance
Select item 317149	NM_002435.3(MPI):c.*393G>A	FAM219B, MPI	Single nucleotide variant (3 prime UTR variant)	MPI-congenital disorder of glycosylation	GUncertain significance
Select item 317148	NM_002435.3(MPI):c.*358G>A	FAM219B, MPI	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 254015	GRCh37/hg19 15q24.1-24.3(chr15:74368270-78122737)x3	ARID3B, C15orf39 +49 more	Copy number gain	See cases	GUncertain significance
Select item 253605	GRCh37/hg19 15q24.1-24.2(chr15:72998989-76069787)x3	ADPGK, ARID3B +47 more	Copy number gain	See cases	GPathogenic
Select item 253560	GRCh37/hg19 15q24.1-24.2(chr15:72958539-75569605)x1	ADPGK, ARID3B +37 more	Copy number loss	See cases	GPathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 154681	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75242989)x1	LOC130057584, LOC130057585 +202 more	Copy number loss	See cases	GPathogenic
Select item 153193	GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1	ACSBG1, ADPGK +487 more	Copy number loss	See cases	GPathogenic
Select item 153074	GRCh38/hg38 15q24.1-24.2(chr15:72685231-75727625)x1	LOC130057567, LOC130057568 +243 more	Copy number loss	See cases	GPathogenic
Select item 148272	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75199803)x1	ADPGK, ADPGK-AS1 +195 more	Copy number loss	See cases	GLikely pathogenic
Select item 58078	GRCh38/hg38 15q24.1-24.2(chr15:72629028-75242989)x3	ADPGK, ADPGK-AS1 +204 more	Copy number gain	See cases	GPathogenic
Select item 57428	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75662276)x1	ADPGK, ADPGK-AS1 +236 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 73