349[HGNC] - ClinVar

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Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938007, LOC129938008 +1317 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC129938312, LOC129938313 +1246 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	LOC129937897, LOC129937898 +1244 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC129938023, LOC129938024 +1200 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938326, LOC129938327 +1064 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938320, LOC129938321 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ABCC5, ABCC5-AS1 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	ZMAT3, ZNF639 +866 more	Copy number gain	See cases	GPathogenic
Select item 153734	GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1	ABCC5, ABCC5-AS1 +399 more	Copy number loss	See cases	GPathogenic
Select item 150107	GRCh38/hg38 3q27.2-27.3(chr3:184843627-187461008)x3	ADIPOQ, ADIPOQ-AS1 +131 more	Copy number gain	See cases	GPathogenic
Select item 57868	GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1	LOC110121069, LOC110121110 +557 more	Copy number loss	See cases	GPathogenic
Select item 1029361	NM_001622.4(AHSG):c.4A>T (p.Lys2Ter)	AHSG (K2*)	Single nucleotide variant (nonsense)	Alopecia-intellectual disability syndrome 1	GPathogenic
Select item 3102412	NM_001622.4(AHSG):c.26G>T (p.Cys9Phe)	AHSG (C9F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058930	NM_001622.4(AHSG):c.39C>G (p.Leu13=)	AHSG	Single nucleotide variant (synonymous variant)	AHSG-related disorder	GBenign
Select item 2654333	NM_001622.4(AHSG):c.81T>C (p.Tyr27=)	AHSG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2234752	NM_001622.4(AHSG):c.89C>T (p.Pro30Leu)	AHSG (P30L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2203911	NM_001622.4(AHSG):c.97G>A (p.Asp33Asn)	AHSG (D33N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102407	NM_001622.4(AHSG):c.117A>C (p.Glu39Asp)	AHSG (E39D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728698	NM_001622.4(AHSG):c.208C>T (p.Pro70Ser)	AHSG (P70S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 16045	NM_001622.4(AHSG):c.214-903G>A	AHSG	Single nucleotide variant (intron variant)		GBenign
Select item 2257041	NM_001622.4(AHSG):c.220T>C (p.Ser74Pro)	AHSG (S73P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301439	NM_001622.4(AHSG):c.223G>A (p.Gly75Arg)	AHSG (G75R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494237	NM_001622.4(AHSG):c.272T>G (p.Val91Gly)	AHSG (V90G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527438	NM_001622.4(AHSG):c.292G>A (p.Ala98Thr)	AHSG (A98T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410659	NM_001622.4(AHSG):c.304G>A (p.Val102Met)	AHSG (V101M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 737830	NM_001622.4(AHSG):c.410-7C>T	AHSG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 786026	NM_001622.4(AHSG):c.424G>T (p.Val142Leu)	AHSG (V142L +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 782089	NM_001622.4(AHSG):c.468C>T (p.Asn156=)	AHSG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 790549	NM_001622.4(AHSG):c.510C>T (p.Ala170=)	AHSG	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2462886	NM_001622.4(AHSG):c.536A>G (p.Asn179Ser)	AHSG (N180S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102427	NM_001622.4(AHSG):c.541C>G (p.Gln181Glu)	AHSG (Q182E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325616	NM_001622.4(AHSG):c.543G>C (p.Gln181His)	AHSG (Q181H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102436	NM_001622.4(AHSG):c.565C>A (p.Gln189Lys)	AHSG (Q188K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 126865	NM_001622.4(AHSG):c.574-298T>G	AHSG	Single nucleotide variant (intron variant)	Calcium oxalate urolithiasis	Gassociation
Select item 126866	NM_001622.4(AHSG):c.574-149A>G	AHSG	Single nucleotide variant (intron variant)	Calcium oxalate urolithiasis	Gassociation
Select item 3102442	NM_001622.4(AHSG):c.593A>C (p.Tyr198Ser)	AHSG (Y198S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778119	NM_001622.4(AHSG):c.675+10C>A	AHSG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2596918	NM_001622.4(AHSG):c.728T>C (p.Val243Ala)	AHSG (V242A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 16043	NM_001622.4(AHSG):c.743T>C (p.Met248Thr)	AHSG (M248T +2 more)	Single nucleotide variant (missense variant +1 more)	Alopecia-intellectual disability syndrome 1	GBenign
Select item 16044	NM_001622.4(AHSG):c.767G>C (p.Ser256Thr)	AHSG (S256T +3 more)	Single nucleotide variant (missense variant)	Alopecia-intellectual disability syndrome 1	GBenign
Select item 747405	NM_001622.4(AHSG):c.782C>G (p.Pro261Arg)	AHSG (P260R +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2654334	NM_001622.4(AHSG):c.804C>T (p.Val268=)	AHSG	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1188909	NM_001622.4(AHSG):c.810A>C (p.Thr270=)	AHSG	Single nucleotide variant (synonymous variant)	Alopecia-intellectual disability syndrome 1	GBenign
Select item 2411213	NM_001622.4(AHSG):c.814G>A (p.Val272Met)	AHSG (V272M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238940	NM_001622.4(AHSG):c.842C>T (p.Pro281Leu)	AHSG (P253L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570534	NM_001622.4(AHSG):c.886G>T (p.Asp296Tyr)	AHSG (D295Y +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3037333	NM_001622.4(AHSG):c.925T>C (p.Leu309=)	AHSG	Single nucleotide variant (synonymous variant)	AHSG-related disorder	GBenign
Select item 780109	NM_001622.4(AHSG):c.949C>T (p.Arg317Cys)	AHSG (R318C +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 488189	NM_001622.4(AHSG):c.950G>A (p.Arg317His)	AHSG (R317H +3 more)	Single nucleotide variant (missense variant)	Alopecia-intellectual disability syndrome 1	GPathogenic
Select item 2397609	NM_001622.4(AHSG):c.1001C>T (p.Ser334Leu)	AHSG (S306L +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2472809	NM_001622.4(AHSG):c.1009C>T (p.Arg337Trp)	AHSG (R337W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774853	NM_001622.4(AHSG):c.1019G>A (p.Arg340His)	AHSG (R341H +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1032762	NM_001622.4(AHSG):c.1024G>A (p.Val342Met)	AHSG (V314M +3 more)	Single nucleotide variant (missense variant)	Alopecia-intellectual disability syndrome 1	GUncertain significance
Select item 2569292	NM_001622.4(AHSG):c.1031A>C (p.Gln344Pro)	AHSG (Q343P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608548	NM_001622.4(AHSG):c.1036A>C (p.Ser346Arg)	AHSG (S347R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102387	NM_001622.4(AHSG):c.1039G>T (p.Val347Phe)	AHSG (V346F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102391	NM_001622.4(AHSG):c.1051G>C (p.Ala351Pro)	AHSG (A351P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494084	NM_001622.4(AHSG):c.1073G>A (p.Cys358Tyr)	AHSG (C357Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367712	NM_001622.4(AHSG):c.1076C>T (p.Pro359Leu)	AHSG (P359L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 753004	NM_001622.4(AHSG):c.1077G>C (p.Pro359=)	AHSG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3102403	NM_001622.4(AHSG):c.1088G>C (p.Arg363Thr)	AHSG (R364T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038852	NM_001622.4(AHSG):c.*7C>A	AHSG	Single nucleotide variant (3 prime UTR variant)	AHSG-related disorder	GBenign
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	AADAC, AADACL2 +286 more	Duplication	not provided	GPathogenic
Select item 2426290	NC_000003.11:g.(?_186256485)_(187009420_?)dup	ADIPOQ, AHSG +14 more	Duplication	3MC syndrome 1	GUncertain significance
Select item 1809046	GRCh37/hg19 3q27.1-28(chr3:184170962-188047867)x1	ADIPOQ, AHSG +32 more	Copy number loss	not provided	GLikely pathogenic
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 1703654	GRCh37/hg19 3q27.1-28(chr3:183556940-188083060)	ABCC5, ABCF3 +53 more	Copy number loss	Short stature	GPathogenic
Select item 1527065	GRCh37/hg19 3q27.3(chr3:186149060-186599706)	ADIPOQ, AHSG +10 more	Copy number loss	not specified	GUncertain significance
Select item 1527063	GRCh37/hg19 3q27.1-27.3(chr3:183178932-186838042)	ABCC5, ABCF3 +49 more	Copy number loss	not specified	GPathogenic
Select item 1527061	GRCh37/hg19 3q26.33-27.3(chr3:182189525-187212935)	ABCC5, ABCF3 +59 more	Copy number loss	not specified	GPathogenic
Select item 1328104	GRCh37/hg19 3q26.31-27.3(chr3:175119199-187592480)x3	ABCC5, ABCF3 +82 more	Copy number gain	not provided	GPathogenic
Select item 980554	GRCh37/hg19 3q27.1-27.3(chr3:182877291-186830759)x1	CLCN2, YEATS2 +52 more	Copy number loss	not provided	GPathogenic
Select item 832891	NC_000003.11:g.(?_186256465)_(187009440_?)del	HRG, TBCCD1 +14 more	Deletion	3MC syndrome 1	GPathogenic
Select item 814507	GRCh37/hg19 3q27.2-27.3(chr3:185879162-187446035)x1	ST6GAL1, DNAJB11 +19 more	Copy number loss	not provided	GPathogenic
Select item 814497	GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3	FXR1, HTR3D +113 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 562848	GRCh37/hg19 3q26.33-28(chr3:182650681-191275809)x1	KNG1, FETUB +75 more	Copy number loss	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 531899	NC_000003.11:g.(?_186256465)_(186980528_?)del	ADIPOQ, AHSG +14 more	Deletion	3MC syndrome 1	GPathogenic
Select item 523279	GRCh37/hg19 3q27.1-28(chr3:184300169-188285627)	FETUB, HRG +32 more	Copy number loss	Cognitive impairment +1 more	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 394816	GRCh37/hg19 3q27.2-27.3(chr3:185419048-186575415)x1	ADIPOQ, AHSG +14 more	Copy number loss	See cases	GPathogenic
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	LRRC31, MCCC1 +198 more	Copy number gain	See cases	GPathogenic
Select item 253655	GRCh37/hg19 3q27.3-28(chr3:186291045-191037240)x1	GMNC, UTS2B +28 more	Copy number loss	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	PTX3, MIR1224 +220 more	Copy number gain	See cases	GPathogenic

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Items: 92