15991[HGNC] - ClinVar

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Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ZMAT3, ZNF639 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	LOC129938282, LOC129938283 +866 more	Copy number gain	See cases	GPathogenic
Select item 57868	GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1	MIR944, MUC20 +557 more	Copy number loss	See cases	GPathogenic
Select item 57997	GRCh38/hg38 3q28-29(chr3:189265371-198110178)x3	ACAP2, APOD +411 more	Copy number gain	See cases	GPathogenic
Select item 57998	GRCh38/hg38 3q28-29(chr3:190667663-198110178)x3	LOC126806930, LOC126806931 +375 more	Copy number gain	See cases	GPathogenic
Select item 148761	GRCh38/hg38 3q29(chr3:192752937-198118383)x3	ACAP2, APOD +337 more	Copy number gain	See cases	GPathogenic
Select item 155434	GRCh38/hg38 3q29(chr3:193704605-198125115)x3	TM4SF19-DYNLT2B, TMEM44 +313 more	Copy number gain	See cases	GPathogenic
Select item 149477	GRCh38/hg38 3q29(chr3:194296197-198110198)x3	ACAP2, APOD +273 more	Copy number gain	See cases	GPathogenic
Select item 58000	GRCh38/hg38 3q29(chr3:194424496-198168758)x3	RUBCN, SENP5 +264 more	Copy number gain	See cases	GPathogenic
Select item 148016	GRCh38/hg38 3q29(chr3:195711798-198110178)x3	BDH1, CEP19 +169 more	Copy number gain	See cases	GPathogenic
Select item 59685	GRCh38/hg38 3q29(chr3:195711798-197976152)x3	LOC129938284, LOC129938285 +166 more	Copy number gain	See cases	GUncertain significance
Select item 59686	GRCh38/hg38 3q29(chr3:195896948-198110178)x3	BDH1, CEP19 +155 more	Copy number gain	See cases	GUncertain significance
Select item 153416	GRCh38/hg38 3q29(chr3:196418334-198125115)x3	BDH1, CEP19 +102 more	Copy number gain	See cases	GUncertain significance
Select item 2579209	GRCh38/hg38 3q29(chr3:197681032-198111976)x1	FYTTD1, IQCG +27 more	Copy number loss	Diamond-Blackfan anemia 5	GPathogenic
Select item 150783	GRCh38/hg38 3q29(chr3:197862644-198110198)x3	IQCG, LMLN +11 more	Copy number gain	See cases	GBenign
Select item 146856	GRCh38/hg38 3q29(chr3:197862644-198021643)x3	IQCG, LMLN +9 more	Copy number gain	See cases	GBenign
Select item 144420	GRCh38/hg38 3q29(chr3:197941928-198110178)x3	IQCG, LMLN +7 more	Copy number gain	See cases	GBenign
Select item 150782	GRCh38/hg38 3q29(chr3:197958670-198110198)x3	IQCG, LMLN +5 more	Copy number gain	See cases	GLikely benign
Select item 2392664	NM_001136049.3(LMLN):c.50G>A (p.Gly17Asp)	LMLN (G17D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314832	NM_001136049.3(LMLN):c.64C>T (p.Arg22Cys)	LMLN (R22C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206431	NM_001136049.3(LMLN):c.64C>G (p.Arg22Gly)	LMLN (R22G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328459	NM_001136049.3(LMLN):c.74G>C (p.Gly25Ala)	LMLN (G25A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480335	NM_001136049.3(LMLN):c.163C>T (p.Pro55Ser)	LMLN (P55S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 721272	NM_001136049.3(LMLN):c.196-9T>A	LMLN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3290957	NM_001136049.3(LMLN):c.213T>G (p.His71Gln)	LMLN (H71Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222484	NM_001136049.3(LMLN):c.380G>A (p.Arg127Gln)	LMLN (R127Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290956	NM_001136049.3(LMLN):c.392C>T (p.Thr131Ile)	LMLN (T131I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 723480	NM_001136049.3(LMLN):c.407+7C>G	LMLN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3119303	NM_001136049.3(LMLN):c.433C>T (p.Arg145Trp)	LMLN (R145W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290954	NM_001136049.3(LMLN):c.502A>G (p.Ile168Val)	LMLN (I168V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3119304	NM_001136049.3(LMLN):c.515A>G (p.Glu172Gly)	LMLN (E172G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495992	NM_001136049.3(LMLN):c.709A>G (p.Ile237Val)	LMLN (I237V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282853	NM_001136049.3(LMLN):c.719A>T (p.Tyr240Phe)	LMLN (Y240F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 150083	GRCh38/hg38 3q29(chr3:197990588-198110198)x3	LMLN, LMLN-AS1 +1 more	Copy number gain	See cases	GLikely benign
Select item 3119305	NM_001136049.3(LMLN):c.968G>A (p.Arg323Gln)	LMLN (R323Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 144479	GRCh38/hg38 3q29(chr3:197990647-198110178)x3	LMLN, LMLN-AS1 +1 more	Copy number gain	See cases	GBenign
Select item 746054	NM_001136049.3(LMLN):c.1044T>C (p.Phe348=)	LMLN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 791967	NM_001136049.3(LMLN):c.1056T>A (p.Val352=)	LMLN	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 161526	NM_001136049.3(LMLN):c.1093G>T (p.Gly365Cys)	LMLN (G373C +1 more)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 3119297	NM_001136049.3(LMLN):c.1106A>G (p.Asn369Ser)	LMLN (N369S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488353	NM_001136049.3(LMLN):c.1177C>G (p.Arg393Gly)	LMLN (R393G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119298	NM_001136049.3(LMLN):c.1196T>C (p.Met399Thr)	LMLN (M399T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119299	NM_001136049.3(LMLN):c.1267T>G (p.Cys423Gly)	LMLN (C423G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 147958	GRCh38/hg38 3q29(chr3:198003093-198110178)x3	LMLN, LMLN-AS1 +1 more	Copy number gain	See cases	GBenign
Select item 144229	GRCh38/hg38 3q29(chr3:198024682-198110178)x3	LMLN, LMLN-AS1 +1 more	Copy number gain	See cases	GBenign
Select item 3119300	NM_001136049.3(LMLN):c.1657G>A (p.Val553Ile)	LMLN (V553I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204926	NM_001136049.3(LMLN):c.1787C>G (p.Thr596Ser)	LMLN (T559S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267216	NM_001136049.3(LMLN):c.1823C>G (p.Pro608Arg)	LMLN (P571R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119301	NM_001136049.3(LMLN):c.1856A>T (p.Asp619Val)	LMLN (D582V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119302	NM_001136049.3(LMLN):c.1940G>A (p.Arg647Gln)	LMLN (R610Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238269	NM_001136049.3(LMLN):c.1942G>A (p.Ala648Thr)	LMLN (A611T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281233	NM_001136049.3(LMLN):c.1967G>C (p.Cys656Ser)	LMLN, LMLN-AS1 (C619S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3242309	GRCh37/hg19 3q29(chr3:195106447-197846145)x3	ACAP2, APOD +33 more	Copy number gain	not provided	GPathogenic
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 3062693	GRCh37/hg19 3q29(chr3:197583068-197851986)x1	IQCG, LMLN +2 more	Copy number loss	not specified	GPathogenic
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1707428	GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3	ABCC5, ABCF3 +118 more	Copy number gain	See cases	GPathogenic
Select item 1340518	GRCh37/hg19 3q29(chr3:195993691-197851986)x3	BDH1, CEP19 +22 more	Copy number gain	not provided	GUncertain significance
Select item 1330171	GRCh37/hg19 3q29(chr3:194790394-197961930)x3	ACAP2, APOD +35 more	Copy number gain	Chromosome 3q29 microdeletion syndrome	GUncertain significance
Select item 1328450	GRCh37/hg19 3q28-29(chr3:191866466-197842171)x1	ACAP2, APOD +48 more	Copy number loss	not provided	GPathogenic
Select item 980655	GRCh37/hg19 3q29(chr3:195068028-197851986)x3	DLG1, PPP1R2 +33 more	Copy number gain	not provided	GPathogenic
Select item 980560	GRCh37/hg19 3q29(chr3:197307386-197851986)x3	FYTTD1, LMLN +4 more	Copy number gain	not provided	GLikely benign
Select item 814517	GRCh37/hg19 3q29(chr3:197736816-197851986)x1	LMLN	Copy number loss	not provided	GUncertain significance
Select item 689140	GRCh37/hg19 3q29(chr3:197312832-197851986)x3	FYTTD1, IQCG +4 more	Copy number gain	not provided	GUncertain significance
Select item 688725	GRCh37/hg19 3q29(chr3:197386179-197851986)x3	FYTTD1, IQCG +4 more	Copy number gain	not provided	GUncertain significance
Select item 638098	GRCh37/hg19 3q28-29(chr3:188386566-197838262)x3	GMNC, GP5 +62 more	Copy number gain	See cases	GPathogenic
Select item 562857	GRCh37/hg19 3q28-29(chr3:191593619-197851986)x3	MB21D2, MUC4 +48 more	Copy number gain	not provided	GPathogenic
Select item 562855	GRCh37/hg19 3q28-29(chr3:187913567-197851986)x3	TMEM44, GP5 +62 more	Copy number gain	not provided	GPathogenic
Select item 562852	GRCh37/hg19 3q27.3-29(chr3:186374365-197851986)x3	PCYT1A, TNK2-AS1 +77 more	Copy number gain	not provided	GPathogenic
Select item 562850	GRCh37/hg19 3q27.1-29(chr3:184003967-197851986)x3	FYTTD1, FAM43A +103 more	Copy number gain	not provided	GPathogenic
Select item 562847	GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3	PPP1R2, TBCCD1 +126 more	Copy number gain	not provided	GPathogenic
Select item 493598	GRCh37/hg19 3q29(chr3:197626443-197845254)x3	IQCG, LMLN +1 more	Copy number gain	not provided	GLikely benign
Select item 493597	GRCh37/hg19 3q29(chr3:197672517-197766791)x3	IQCG, LMLN +1 more	Copy number gain	not provided	GLikely benign
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 394471	GRCh37/hg19 3q29(chr3:197553766-197729964)x3	IQCG, LMLN +2 more	Copy number gain	See cases	GLikely benign
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	ABCC5, ABCF3 +198 more	Copy number gain	See cases	GPathogenic
Select item 219039	GRCh37/hg19 3q29(chr3:197127599-197771083)x3	BDH1, FYTTD1 +5 more	Copy number gain	See cases	GUncertain significance

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Items: 88