ClinVar for Gene (Select 390648) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3205591	NM_001005326.2(OR4F6):c.917T>A (p.Val306Glu)	OR4F6 (V306E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205590	NM_001005326.2(OR4F6):c.902G>A (p.Arg301Gln)	OR4F6 (R301Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205588	NM_001005326.2(OR4F6):c.743T>A (p.Val248Asp)	OR4F6 (V248D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205587	NM_001005326.2(OR4F6):c.737T>C (p.Val246Ala)	OR4F6 (V246A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205586	NM_001005326.2(OR4F6):c.697A>G (p.Ile233Val)	OR4F6 (I233V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205585	NM_001005326.2(OR4F6):c.497T>C (p.Leu166Pro)	OR4F6 (L166P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205583	NM_001005326.2(OR4F6):c.181T>C (p.Phe61Leu)	OR4F6 (F61L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063384	GRCh37/hg19 15q26.1-26.3(chr15:94176550-102429112)x3	ADAMTS17, ALDH1A3 +23 more	Copy number gain	not specified	GPathogenic
Select item 3063364	GRCh37/hg19 15q26.3(chr15:98679543-102429112)x1	ADAMTS17, ALDH1A3 +19 more	Copy number loss	not specified	GPathogenic
Select item 2685535	GRCh37/hg19 15q26.3(chr15:101919415-102429112)x1	OR4F15, OR4F6 +3 more	Copy number loss	not provided	GUncertain significance
Select item 2671598	Single allele	ADAMTS17, ALDH1A3 +19 more	Deletion	not provided	GPathogenic
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 2558959	NM_001005326.2(OR4F6):c.61C>T (p.Arg21Trp)	OR4F6 (R21W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2469250	NM_001005326.2(OR4F6):c.218T>G (p.Phe73Cys)	OR4F6 (F73C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454245	NM_001005326.2(OR4F6):c.905G>A (p.Cys302Tyr)	OR4F6 (C302Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397510	NM_001005326.2(OR4F6):c.341T>C (p.Leu114Pro)	OR4F6 (L114P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391020	NM_001005326.2(OR4F6):c.451A>G (p.Ile151Val)	OR4F6 (I151V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346484	NM_001005326.2(OR4F6):c.338T>A (p.Val113Glu)	OR4F6 (V113E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345063	NM_001005326.2(OR4F6):c.320T>C (p.Val107Ala)	OR4F6 (V107A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2341316	NM_001005326.2(OR4F6):c.495C>A (p.Asp165Glu)	OR4F6 (D165E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337423	NM_001005326.2(OR4F6):c.464A>T (p.His155Leu)	OR4F6 (H155L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299310	NM_001005326.2(OR4F6):c.821T>C (p.Phe274Ser)	OR4F6 (F274S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246869	NM_001005326.2(OR4F6):c.354G>A (p.Met118Ile)	OR4F6 (M118I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231912	NM_001005326.2(OR4F6):c.290G>A (p.Cys97Tyr)	OR4F6 (C97Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526475	GRCh37/hg19 15q26.3(chr15:99258367-102429112)	ADAMTS17, ALDH1A3 +19 more	Copy number loss	not specified	GPathogenic
Select item 1526472	GRCh37/hg19 15q26.2-26.3(chr15:97223728-102429112)	ADAMTS17, ALDH1A3 +21 more	Copy number loss	not specified	GPathogenic
Select item 1526471	GRCh37/hg19 15q26.2-26.3(chr15:97026327-102429112)	ADAMTS17, ALDH1A3 +21 more	Copy number loss	not specified	GPathogenic
Select item 1340373	GRCh37/hg19 15q26.3(chr15:101659856-102429112)x3	CHSY1, OR4F15 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1340237	GRCh37/hg19 15q26.3(chr15:101783340-102429112)x3	CHSY1, OR4F15 +6 more	Copy number gain	not provided	GLikely benign
Select item 1180505	GRCh37/hg19 15q26.1-26.3(chr15:92335751-102399741)x1	ADAMTS17, ALDH1A3 +29 more	Copy number loss	not provided	GPathogenic
Select item 983158	GRCh37/hg19 15q25.3-26.3(chr15:86962053-102531392)x1	ABHD2, ACAN +77 more	Copy number loss	See cases	GPathogenic
Select item 980653	GRCh37/hg19 15q26.3(chr15:100853021-102429112)x1	ASB7, CERS3 +12 more	Copy number loss	not provided	GUncertain significance
Select item 980643	GRCh37/hg19 15q26.2-26.3(chr15:98275761-102358202)x1	ALDH1A3, SYNM +19 more	Copy number loss	not provided	GPathogenic
Select item 815755	GRCh37/hg19 15q26.3(chr15:98795669-102429112)x1	OR4F15, PGPEP1L +19 more	Copy number loss	not provided	GPathogenic
Select item 815754	GRCh37/hg19 15q26.3(chr15:98686212-102429112)x1	SYNM, CHSY1 +19 more	Copy number loss	not provided	GPathogenic
Select item 815743	GRCh37/hg19 15q25.3-26.3(chr15:87189245-102429112)x1	ABHD2, ACAN +76 more	Copy number loss	not provided	GPathogenic
Select item 805881	GRCh37/hg19 15q26.2-26.3(chr15:96878099-102397836)x1	CHSY1, SELENOS +22 more	Copy number loss	Chromosome 15q26-qter deletion syndrome	GPathogenic
Select item 686177	GRCh37/hg19 15q26.1-26.3(chr15:90288175-102429112)x3	ADAMTS17, ALDH1A3 +54 more	Copy number gain	not provided	GPathogenic
Select item 685015	GRCh37/hg19 15q26.3(chr15:102065746-102429112)x1	OR4F15, OR4F6 +2 more	Copy number loss	not provided	GUncertain significance
Select item 625753	GRCh37/hg19 15q26.2-26.3(chr15:96873212-102389423)	ADAMTS17, ALDH1A3 +22 more	Copy number loss	not provided	GPathogenic
Select item 564247	GRCh37/hg19 15q26.3(chr15:101734079-102429112)x3	SNRPA1, TM2D3 +6 more	Copy number gain	not provided	GLikely benign
Select item 564241	GRCh37/hg19 15q26.3(chr15:100526020-102429112)x1	SELENOS, TM2D3 +12 more	Copy number loss	not provided	GUncertain significance
Select item 564237	GRCh37/hg19 15q26.3(chr15:99928623-102429112)x3	OR4F6, MEF2A +14 more	Copy number gain	not provided	GLikely pathogenic
Select item 564229	GRCh37/hg19 15q26.1-26.3(chr15:89743929-102429112)x3	ABHD2, ADAMTS17 +66 more	Copy number gain	not provided	GPathogenic
Select item 564221	GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3	ABHD17C, ABHD2 +143 more	Copy number gain	not provided	GPathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 443865	GRCh37/hg19 15q26.1-26.3(chr15:93148806-102429112)x3	ADAMTS17, ALDH1A3 +26 more	Copy number gain	See cases	GPathogenic
Select item 443651	GRCh37/hg19 15q26.3(chr15:98737093-102429112)x1	ADAMTS17, ALDH1A3 +19 more	Copy number loss	See cases	GPathogenic
Select item 443543	GRCh37/hg19 15q26.2-26.3(chr15:96913435-102429112)x1	ADAMTS17, ALDH1A3 +21 more	Copy number loss	See cases	GPathogenic
Select item 443269	GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3	ABHD17C, ABHD2 +154 more	Copy number gain	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 442874	GRCh37/hg19 15q26.3(chr15:100564922-102399548)x1	ADAMTS17, ALDH1A3 +12 more	Copy number loss	See cases	GUncertain significance
Select item 442658	GRCh37/hg19 15q26.3(chr15:101124214-102429112)x1	ALDH1A3, ASB7 +10 more	Copy number loss	See cases	GLikely benign
Select item 442426	GRCh37/hg19 15q26.2-26.3(chr15:98220018-102429112)x1	ADAMTS17, ALDH1A3 +20 more	Copy number loss	See cases	GPathogenic
Select item 441704	GRCh37/hg19 15q26.3(chr15:101238481-102429112)x1	ALDH1A3, CHSY1 +8 more	Copy number loss	See cases	GUncertain significance
Select item 395723	GRCh37/hg19 15q26.3(chr15:98818228-102399760)	SYNM, TARS3 +19 more	Copy number loss	See cases	GPathogenic
Select item 395560	GRCh37/hg19 15q25.3-26.3(chr15:86148286-102511616)x3	ABHD2, ACAN +79 more	Copy number gain	See cases	GPathogenic
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 395056	GRCh37/hg19 15q26.1-26.3(chr15:90346994-102354798)	ADAMTS17, ALDH1A3 +51 more	Copy number loss	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 394871	GRCh37/hg19 15q25.2-26.3(chr15:85089467-102495441)x3	ABHD2, ACAN +87 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 253671	GRCh37/hg19 15q26.1-26.3(chr15:92197136-102354857)x1	ALDH1A3, SNRPA1 +28 more	Copy number loss	See cases	GPathogenic
Select item 253543	GRCh37/hg19 15q26.2-26.3(chr15:98458265-102354857)x1	IGF1R, PCSK6 +19 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 226244	GRCh37/hg19 15q26.3(chr15:102332446-102368280)	OR4F6, OR4F15	Copy number gain	Abnormal esophagus morphology	GBenign
Select item 226243	GRCh37/hg19 15q26.3(chr15:102325461-102373183)	OR4F15, OR4F6	Copy number gain	Abnormal esophagus morphology	GBenign
Select item 221872	GRCh37/hg19 15q26.3(chr15:102251993-102461162)x3	OR4F15, OR4F6 +1 more	Copy number gain	Premature ovarian failure	GBenign
Select item 157354	NM_001001674.1(OR4F15):c.-19963_8460dup	OR4F15, OR4F6	Duplication	Normal pregnancy	Gnot provided
Select item 155459	GRCh38/hg38 15q26.3(chr15:98280297-101888909)x3	ADAMTS17, ALDH1A3 +165 more	Copy number gain	See cases	GPathogenic
Select item 155109	GRCh38/hg38 15q26.2-26.3(chr15:97681713-101920998)x1	ADAMTS17, ALDH1A3 +179 more	Copy number loss	See cases	GPathogenic
Select item 155021	GRCh38/hg38 15q26.2-26.3(chr15:96024127-101920998)x1	LOC126862250, LOC126862251 +203 more	Copy number loss	See cases	GPathogenic
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 154700	GRCh38/hg38 15q26.3(chr15:101552822-101843270)x1	LINC02348, LOC126862257 +12 more	Copy number loss	See cases	GLikely benign
Select item 154661	GRCh38/hg38 15q26.3(chr15:98467297-101843270)x1	ADAMTS17, ALDH1A3 +159 more	Copy number loss	See cases	GPathogenic
Select item 154512	GRCh38/hg38 15q26.3(chr15:99338283-101843270)x3	ADAMTS17, ALDH1A3 +121 more	Copy number gain	See cases	GPathogenic
Select item 153566	GRCh38/hg38 15q26.3(chr15:101621199-101888909)x1	LOC126862258, LOC126862259 +9 more	Copy number loss	See cases	GLikely benign
Select item 153554	GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3	ABHD2, ACAN +552 more	Copy number gain	See cases	GPathogenic
Select item 152930	GRCh38/hg38 15q26.1-26.3(chr15:93041524-101941326)x3	ADAMTS17, ALDH1A3 +228 more	Copy number gain	See cases	GPathogenic
Select item 152750	GRCh38/hg38 15q26.2-26.3(chr15:97172754-101920998)x1	ADAMTS17, ALDH1A3 +185 more	Copy number loss	See cases	GPathogenic
Select item 151982	GRCh38/hg38 15q26.2-26.3(chr15:97283711-101920998)x3	ADAMTS17, ALDH1A3 +184 more	Copy number gain	See cases	GLikely pathogenic
Select item 150725	GRCh38/hg38 15q26.3(chr15:101685919-101843276)x1	LOC126862258, LOC126862259 +5 more	Copy number loss	See cases	GLikely benign
Select item 149341	GRCh38/hg38 15q26.3(chr15:101395560-101843276)x3	LINC02348, LOC121847966 +15 more	Copy number gain	See cases	GLikely benign
Select item 148189	GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	LOC130057962, LOC130057963 +517 more	Copy number gain	See cases	GPathogenic
Select item 147708	GRCh38/hg38 15q26.2-26.3(chr15:95770627-101810992)x1	LOC130058035, LOC130058036 +202 more	Copy number loss	See cases	GPathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC111822949, LOC112272574 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	LOC130057971, LOC130057972 +630 more	Copy number gain	See cases	GPathogenic
Select item 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	LOC130058025, LOC130058026 +500 more	Copy number gain	See cases	GPathogenic
Select item 146071	GRCh38/hg38 15q26.2-26.3(chr15:97014065-101843270)x1	ADAMTS17, ALDH1A3 +184 more	Copy number loss	See cases	GPathogenic
Select item 145641	GRCh38/hg38 15q26.3(chr15:99155987-101843270)x1	ADAMTS17, ALDH1A3 +127 more	Copy number loss	See cases	GPathogenic
Select item 144251	GRCh38/hg38 15q26.1-26.3(chr15:93198717-101843270)x1	ADAMTS17, ALDH1A3 +224 more	Copy number loss	See cases	GPathogenic
Select item 59408	GRCh38/hg38 15q26.3(chr15:100222791-101843270)x1	ADAMTS17, ALDH1A3 +84 more	Copy number loss	See cases	GPathogenic
Select item 59405	GRCh38/hg38 15q26.3(chr15:98845807-101843270)x1	LOC130058072, LOC130058073 +148 more	Copy number loss	See cases	GPathogenic
Select item 59404	GRCh38/hg38 15q26.2-26.3(chr15:97735430-101810992)x1	ADAMTS17, ALDH1A3 +174 more	Copy number loss	See cases	GPathogenic
Select item 59402	GRCh38/hg38 15q26.2-26.3(chr15:96329791-101849578)x1	ADAMTS17, ALDH1A3 +195 more	Copy number loss	See cases	GPathogenic
Select item 59388	GRCh38/hg38 15q26.2-26.3(chr15:96069425-101849578)x1	ADAMTS17, ALDH1A3 +201 more	Copy number loss	See cases	GPathogenic
Select item 58582	GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3	ADAMTS17, ALDH1A3 +422 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	LOC130057938, LOC130057939 +611 more	Copy number gain	See cases	GPathogenic

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