6283[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC130001070, LOC130001071 +962 more	Copy number gain	See cases	GPathogenic
Select item 148271	GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3	ADCK5, ADCY8 +746 more	Copy number gain	See cases	GPathogenic
Select item 33826	GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	LOC130001144, LOC130001145 +745 more	Copy number gain	See cases	GPathogenic
Select item 57179	GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3	ADCK5, ADCY8 +567 more	Copy number gain	See cases	GPathogenic
Select item 144139	GRCh38/hg38 8q24.21-24.3(chr8:130115518-141228210)x3	CCN4, CHRAC1 +206 more	Copy number gain	See cases	GPathogenic
Select item 148571	GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3	EPPK1, ERICD +499 more	Copy number gain	See cases	GPathogenic
Select item 148265	GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3	TOP1MT, TRAPPC9 +373 more	Copy number gain	See cases	GLikely pathogenic
Select item 148392	GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3	ADCK5, ADGRB1 +375 more	Copy number gain	See cases	GLikely pathogenic
Select item 369595	NR_104210.2(KCNK9):n.1375dup	KCNK9	Duplication (non-coding transcript variant)	Birk-Barel Intellectual Disability Dysmorphism Syndrome	GBenign
Select item 2663032	NM_001282534.2(KCNK9):c.1105A>T (p.Lys369Ter)	KCNK9 (K369*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3027317	NM_001282534.2(KCNK9):c.1056C>G (p.Ser352Arg)	KCNK9 (S352R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 719497	NM_001282534.2(KCNK9):c.1038C>T (p.Leu346=)	KCNK9	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3341694	NM_001282534.2(KCNK9):c.999G>T (p.Lys333Asn)	KCNK9 (K333N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 784141	NM_001282534.2(KCNK9):c.978C>T (p.Tyr326=)	KCNK9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2504730	NM_001282534.2(KCNK9):c.977A>G (p.Tyr326Cys)	KCNK9 (Y326C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2921202	NM_001282534.2(KCNK9):c.973C>A (p.His325Asn)	KCNK9 (H325N)	Single nucleotide variant (missense variant +1 more)	Birk-Barel syndrome	GUncertain significance
Select item 1304328	NM_001282534.2(KCNK9):c.932C>A (p.Ser311Ter)	KCNK9 (S311*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GUncertain significance
Select item 1305869	NM_001282534.2(KCNK9):c.929G>C (p.Arg310Pro)	KCNK9 (R310P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2270215	NM_001282534.2(KCNK9):c.914A>G (p.Gln305Arg)	KCNK9 (Q305R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 996615	NM_001282534.2(KCNK9):c.907C>T (p.Arg303Cys)	KCNK9 (R303C)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	Gassociation
Select item 3067447	NM_001282534.2(KCNK9):c.900C>A (p.Thr300=)	KCNK9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2628439	NM_001282534.2(KCNK9):c.863C>T (p.Ala288Val)	KCNK9 (A288V)	Single nucleotide variant (missense variant +1 more)	KCNK9-related disorder	GUncertain significance
Select item 2277082	NM_001282534.2(KCNK9):c.847C>T (p.Arg283Trp)	KCNK9 (R283W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 720392	NM_001282534.2(KCNK9):c.825C>T (p.Ile275=)	KCNK9	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2658854	NM_001282534.2(KCNK9):c.803G>A (p.Arg268His)	KCNK9 (R268H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1306972	NM_001282534.2(KCNK9):c.763C>T (p.Arg255Trp)	KCNK9 (R255W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 982629	NM_001282534.2(KCNK9):c.710C>A (p.Ala237Asp)	KCNK9 (A237D)	Single nucleotide variant (missense variant +1 more)	Birk-Barel syndrome	GLikely pathogenic
Select item 397636	NM_001282534.2(KCNK9):c.706G>C (p.Gly236Arg)	KCNK9 (G236R)	Single nucleotide variant (missense variant +1 more)	Birk-Barel syndrome	GPathogenic
Select item 4741	NM_001282534.2(KCNK9):c.706G>A (p.Gly236Arg)	KCNK9 (G236R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 753119	NM_001282534.2(KCNK9):c.660C>T (p.Tyr220=)	KCNK9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1174840	NM_001282534.2(KCNK9):c.636T>C (p.Gly212=)	KCNK9	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 989376	NM_001282534.2(KCNK9):c.599T>C (p.Ile200Thr)	KCNK9 (I200T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3344571	NM_001282534.2(KCNK9):c.591G>T (p.Leu197Phe)	KCNK9 (L197F)	Single nucleotide variant (missense variant +1 more)	KCNK9-related disorder	GUncertain significance
Select item 3040050	NM_001282534.2(KCNK9):c.582C>T (p.Phe194=)	KCNK9	Single nucleotide variant (synonymous variant +1 more)	KCNK9-related disorder	GLikely benign
Select item 1198832	NM_001282534.2(KCNK9):c.565G>A (p.Ala189Thr)	KCNK9 (A189T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1343186	NM_001282534.2(KCNK9):c.552G>A (p.Trp184Ter)	KCNK9 (W184*)	Single nucleotide variant (nonsense +1 more)	Developmental disorder	GUncertain significance
Select item 1035739	NM_001282534.2(KCNK9):c.551G>A (p.Trp184Ter)	KCNK9 (W184*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2579312	NM_001282534.2(KCNK9):c.550T>G (p.Trp184Gly)	KCNK9 (W184G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 928701	NM_001282534.2(KCNK9):c.509C>T (p.Thr170Met)	KCNK9 (T170M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1033821	NM_001282534.2(KCNK9):c.467T>C (p.Met156Thr)	KCNK9 (M156T)	Single nucleotide variant (missense variant +1 more)	Birk-Barel syndrome	GUncertain significance
Select item 633548	NM_001282534.2(KCNK9):c.466A>G (p.Met156Val)	KCNK9 (M156V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1309947	NM_001282534.2(KCNK9):c.464C>G (p.Ser155Cys)	KCNK9 (S155C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3043621	NM_001282534.2(KCNK9):c.459C>T (p.Asp153=)	KCNK9	Single nucleotide variant (synonymous variant +1 more)	KCNK9-related disorder	GLikely benign
Select item 2661986	NM_001282534.2(KCNK9):c.439T>C (p.Cys147Arg)	KCNK9 (C147R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3253485	NM_001282534.2(KCNK9):c.412T>C (p.Tyr138His)	KCNK9 (Y138H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1303450	NM_001282534.2(KCNK9):c.403_405del (p.Phe135del)	KCNK9 (F135del)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 985291	NM_001282534.2(KCNK9):c.392G>C (p.Arg131Pro)	KCNK9 (R131P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 372887	NM_001282534.2(KCNK9):c.392G>A (p.Arg131His)	KCNK9 (R131H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GLikely pathogenic
Select item 3342854	NM_001282534.2(KCNK9):c.391C>A (p.Arg131Ser)	KCNK9 (R131S)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 983124	NM_001282534.2(KCNK9):c.391C>T (p.Arg131Cys)	KCNK9 (R131C)	Single nucleotide variant (missense variant +1 more)	Birk-Barel syndrome +1 more	GConflicting classifications of pathogenicity
Select item 710440	NM_001282534.2(KCNK9):c.375C>T (p.Phe125=)	KCNK9	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2672078	NM_001282534.2(KCNK9):c.373T>C (p.Phe125Leu)	KCNK9 (F125L)	Single nucleotide variant (missense variant +1 more)	Birk-Barel syndrome	Gnot provided
Select item 2662692	NM_001282534.2(KCNK9):c.364C>G (p.Leu122Val)	KCNK9 (L122V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2230246	NM_001282534.2(KCNK9):c.350G>T (p.Gly117Val)	KCNK9 (G117V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1698163	NM_001282534.2(KCNK9):c.332T>A (p.Met111Lys)	KCNK9 (M111K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 734083	NM_001282534.2(KCNK9):c.309C>T (p.Thr103=)	KCNK9	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 709458	NM_001282534.2(KCNK9):c.284-10C>G	KCNK9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 733149	NM_001282534.2(KCNK9):c.270C>G (p.Val90=)	KCNK9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1307672	NM_001282534.2(KCNK9):c.235A>G (p.Lys79Glu)	KCNK9 (K79E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 634574	NM_001282534.2(KCNK9):c.223G>A (p.Gly75Ser)	KCNK9 (G75S)	Single nucleotide variant (missense variant +1 more)	Birk-Barel syndrome	GUncertain significance
Select item 2230541	NM_001282534.2(KCNK9):c.179G>A (p.Arg60Gln)	KCNK9 (R60Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 736183	NM_001282534.2(KCNK9):c.162C>T (p.Ile54=)	KCNK9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2576666	NM_001282534.2(KCNK9):c.107G>A (p.Arg36His)	KCNK9, LOC124188239 (R36H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2658855	NM_001282534.2(KCNK9):c.86T>G (p.Leu29Arg)	KCNK9, LOC124188239 (L29R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2429488	NM_001282534.2(KCNK9):c.80A>C (p.Asp27Ala)	LOC124188239, KCNK9 (D27A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 985478	NM_001282534.2(KCNK9):c.50C>A (p.Thr17Asn)	KCNK9, LOC124188239 (T17N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 452563	NM_001282534.2(KCNK9):c.25C>G (p.Leu9Val)	KCNK9, LOC124188239 (L9V)	Single nucleotide variant (missense variant +1 more)	Birk-Barel syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2581937	NM_001282534.2(KCNK9):c.14A>G (p.Asn5Ser)	KCNK9, LOC124188239 (N5S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	GML, KCNQ3 +173 more	Copy number gain	not provided	GPathogenic
Select item 2578018	GRCh37/hg19 8q24.21-24.3(chr8:131138343-143473913)	SLA, TRAPPC9 +29 more	Copy number gain	Distal trisomy 8q	GPathogenic
Select item 2426980	NC_000008.10:g.(?_139601496)_(141468663_?)dup	C8orf17, COL22A1 +2 more	Duplication	not provided	GUncertain significance
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1676301	GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)	FZD6, PCAT1 +236 more	Copy number gain	not provided	GPathogenic
Select item 1527465	GRCh37/hg19 8q24.21-24.3(chr8:130863093-146295771)	ADCK5, ADCY8 +117 more	Copy number gain	not specified	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 1340378	GRCh37/hg19 8q24.23-24.3(chr8:139306742-140700896)x3	COL22A1, FAM135B +1 more	Copy number gain	not provided	GUncertain significance
Select item 1328458	GRCh37/hg19 8q24.23-24.3(chr8:139692209-141412715)x3	C8orf17, COL22A1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1328457	GRCh37/hg19 8q24.21-24.3(chr8:128878931-141662233)x3	ADCY8, AGO2 +25 more	Copy number gain	not provided	GUncertain significance
Select item 815172	GRCh37/hg19 8q24.3(chr8:140699041-141497553)x3	KCNK9, C8orf17 +1 more	Copy number gain	not provided	GUncertain significance
Select item 815169	GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3	ADCK5, ADCY8 +119 more	Copy number gain	not provided	GPathogenic
Select item 815167	GRCh37/hg19 8q24.13-24.3(chr8:126892814-143750028)x1	ADCY8, ADGRB1 +39 more	Copy number loss	not provided	GPathogenic
Select item 815163	GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3	ADGRB1, ADCY8 +155 more	Copy number gain	not provided	GPathogenic
Select item 689071	GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3	ADCK5, ADCY8 +150 more	Copy number gain	not provided	GPathogenic

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