ClinVar for Gene (Select 5371) - ClinVar

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Links from Gene

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3215830	NM_033238.3(PML):c.944G>A (p.Arg315Gln)	PML (R315Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3215829	NM_033238.3(PML):c.365T>C (p.Ile122Thr)	PML (I122T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215828	NM_033238.3(PML):c.250T>G (p.Ser84Ala)	PML (S84A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215827	NM_033238.3(PML):c.2437C>T (p.Arg813Cys)	PML (R813C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215826	NM_033238.3(PML):c.2192A>G (p.Gln731Arg)	PML (Q731R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215825	NM_033238.3(PML):c.2176C>T (p.Leu726Phe)	PML (L726F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215824	NM_033238.3(PML):c.2056A>C (p.Asn686His)	PML (N686H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215823	NM_033238.3(PML):c.1981C>T (p.His661Tyr)	PML (H661Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215822	NM_033238.3(PML):c.1957G>A (p.Val653Met)	PML (V653M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215821	NM_033238.3(PML):c.1666G>A (p.Val556Ile)	PML (V556I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3215820	NM_033238.3(PML):c.1174C>A (p.Gln392Lys)	PML (Q392K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059931	NM_033238.3(PML):c.1710+1335G>C	PML (A754P +2 more)	Single nucleotide variant (missense variant +2 more)	PML-related condition	GLikely benign
Select item 3052021	NM_033238.3(PML):c.1149G>A (p.Leu383=)	PML	Single nucleotide variant (synonymous variant)	PML-related condition	GLikely benign
Select item 3051387	NM_033238.3(PML):c.537C>T (p.Asp179=)	PML	Single nucleotide variant (synonymous variant)	PML-related condition	GLikely benign
Select item 3049830	NM_033238.3(PML):c.1710+685C>T	PML (A537V +1 more)	Single nucleotide variant (missense variant +2 more)	PML-related condition	GLikely benign
Select item 3049463	NM_033238.3(PML):c.1710+833C>T	PML	Single nucleotide variant (synonymous variant +2 more)	PML-related condition	GLikely benign
Select item 3047942	NM_033238.3(PML):c.1710+1467G>A	PML	Single nucleotide variant (3 prime UTR variant +1 more)	PML-related condition	GLikely benign
Select item 3041488	NM_033238.3(PML):c.2509G>A (p.Ala837Thr)	PML (A837T)	Single nucleotide variant (missense variant)	PML-related condition	GLikely benign
Select item 3039227	NM_033238.3(PML):c.1710+1029G>A	PML (G652R +2 more)	Single nucleotide variant (missense variant +2 more)	PML-related condition	GLikely benign
Select item 3038843	NM_033238.3(PML):c.2174A>G (p.Lys725Arg)	PML (K725R)	Single nucleotide variant (missense variant)	PML-related condition	GLikely benign
Select item 3025878	NM_033238.3(PML):c.1245C>T (p.Asp415=)	PML	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2689793	NM_033238.3(PML):c.929_941dup (p.Ser314fs)	PML (S314fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2689792	NM_033238.3(PML):c.919C>T (p.Arg307Cys)	PML (R307C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2610357	NM_033238.3(PML):c.1748G>C (p.Ser583Thr)	PML (S583T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609325	NM_033238.3(PML):c.1960T>C (p.Ser654Pro)	PML (S654P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606673	NM_033238.3(PML):c.776C>T (p.Ala259Val)	PML (A259V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590030	NM_033238.3(PML):c.2615G>A (p.Arg872His)	PML (R872H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2538780	NM_033238.3(PML):c.971A>G (p.Gln324Arg)	PML (Q324R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532989	NM_033238.3(PML):c.902T>C (p.Val301Ala)	PML (V301A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523753	NM_033238.3(PML):c.2114C>T (p.Ser705Leu)	PML (S705L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	ISLR2, MESD +209 more	Copy number gain	not provided	GPathogenic
Select item 2492252	NM_033238.3(PML):c.782T>C (p.Met261Thr)	PML (M261T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489826	NM_033238.3(PML):c.2231T>A (p.Met744Lys)	PML (M744K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482961	NM_033238.3(PML):c.587C>A (p.Thr196Asn)	PML (T196N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474884	NM_033238.3(PML):c.1220C>T (p.Ala407Val)	PML (A407V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464602	NM_033238.3(PML):c.121C>T (p.Pro41Ser)	PML (P41S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461293	NM_033238.3(PML):c.1519G>A (p.Glu507Lys)	PML (E507K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2427095	NC_000015.9:g.(?_72978569)_(75190071_?)dup	ADPGK, ARID3B +29 more	Duplication	Bardet-Biedl syndrome	GUncertain significance
Select item 2408298	NM_033238.3(PML):c.1346C>T (p.Ala449Val)	PML (A449V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385206	NM_033238.3(PML):c.632T>A (p.Leu211Gln)	PML (L211Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385205	NM_033238.3(PML):c.2515C>G (p.Pro839Ala)	PML (P839A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360803	NM_033238.3(PML):c.2518G>T (p.Ala840Ser)	PML (A840S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357915	NM_033238.3(PML):c.2375G>A (p.Arg792Gln)	PML (R792Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327248	NM_033238.3(PML):c.1946A>G (p.Tyr649Cys)	PML (Y649C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298350	NM_033238.3(PML):c.1507C>T (p.Arg503Trp)	PML (R503W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292766	NM_033238.3(PML):c.1279G>A (p.Ala427Thr)	PML (A427T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276856	NM_033238.3(PML):c.20G>T (p.Arg7Leu)	PML (R7L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272832	NM_033238.3(PML):c.905A>T (p.Asp302Val)	PML (D302V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255592	NM_033238.3(PML):c.1910G>A (p.Arg637His)	PML (R637H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211284	NM_033238.3(PML):c.2218G>A (p.Glu740Lys)	PML (E740K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1353978	NC_000015.9:g.(?_72978569)_(75722716_?)del	ADPGK, ARID3B +41 more	Deletion	not provided	GPathogenic
Select item 1288742	NM_033238.3(PML):c.1710+1705A>G	PML	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	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 783716	NM_033238.3(PML):c.1710+813G>A	PML (A628T +1 more)	Single nucleotide variant (missense variant +2 more)	PML-related condition +1 more	GBenign
Select item 783060	NM_033238.3(PML):c.2373C>G (p.Pro791=)	PML	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 779897	NM_033238.3(PML):c.2283G>A (p.Pro761=)	PML	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776930	NM_033238.3(PML):c.2025C>T (p.Ala675=)	PML	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776929	NM_033238.3(PML):c.1710+948C>T	PML (R625C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 776928	NM_033238.3(PML):c.82A>C (p.Thr28Pro)	PML (T28P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 774496	NM_033238.3(PML):c.792C>T (p.Ala264=)	PML	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 744832	NM_033238.3(PML):c.1074C>G (p.Arg358=)	PML	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 713918	NM_033238.3(PML):c.1710+1227G>A	PML (V718M +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 708969	NM_033238.3(PML):c.1645G>A (p.Ala549Thr)	PML (A549T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 564216	GRCh37/hg19 15q24.1(chr15:74315568-74654641)x3	CCDC33, CYP11A1 +5 more	Copy number gain	not provided	GUncertain significance
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	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
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 +561 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +561 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 403330	NM_033238.3(PML):c.1710+1270G>T	PML (G732V +1 more)	Single nucleotide variant (missense variant +2 more)	PML-related condition +1 more	GBenign
Select item 403329	NM_033238.3(PML):c.1710+1245A>G	PML (S724G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GBenign
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	GPR176, GRAMD2A +568 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	AAGAB, ABHD17C +446 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	SLC24A1, SLC28A1 +310 more	Copy number gain	not provided	GLikely pathogenic
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 +279 more	Copy number gain	See cases	GPathogenic
Select item 221319	NM_033238.3(PML):c.2264G>C (p.Arg755Pro)	PML (R755P)	Single nucleotide variant (missense variant)	Breast ductal adenocarcinoma	GUncertain significance
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	ABHD17C, ABHD2 +1244 more	Copy number gain	See cases	GPathogenic
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057816, LOC130057817 +1763 more	Copy number gain	See cases	GPathogenic
Select item 154681	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75242989)x1	LOC110467517, LOC112272614 +202 more	Copy number loss	See cases	GPathogenic
Select item 153193	GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1	LOC121530589, LOC121530590 +487 more	Copy number loss	See cases	GPathogenic
Select item 153074	GRCh38/hg38 15q24.1-24.2(chr15:72685231-75727625)x1	ADPGK, ADPGK-AS1 +243 more	Copy number loss	See cases	GPathogenic
Select item 148272	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75199803)x1	NPTN-IT1, PML +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	LOC130057507, LOC130057508 +236 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 95